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 ABCG8 64241 genome.wustl.edu 37 2 44073306 44073306 + Missense_Mutation SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 44073306 44073306 T A SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known missense c.178 p.S60T 0.998 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ADRB2 154 genome.wustl.edu 37 5 148206530 148206530 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 5 148206530 148206530 G A SNP ADRB2 ENST00000305988 human ensembl 70_37 +1 known missense c.136 p.A46T 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRB2 HGNC AFF2 2334 genome.wustl.edu 37 X 148055117 148055117 + Silent SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 148055117 148055117 T A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known silent c.3384 p.S1128 0.160 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247031024 247031024 + Missense_Mutation SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 247031024 247031024 A G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.3205 p.S1069P 0.997 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ASH1L 55870 genome.wustl.edu 37 1 155449314 155449314 + Missense_Mutation SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 155449314 155449314 C G SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.3347 p.G1116A 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ATAD3A 55210 genome.wustl.edu 37 1 1455604 1455604 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 1455604 1455604 G A SNP ATAD3A ENST00000378755 human ensembl 70_37 +1 known missense c.742 p.E248K 0.999 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3A HGNC C1orf222 85452 genome.wustl.edu 37 1 1896377 1896377 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 1896377 1896377 C T SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1525 p.E509K 0.998 NULL NULL - no_errors C1orf222 HGNC CNTLN 54875 genome.wustl.edu 37 9 17236576 17236576 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 9 17236576 17236576 C T SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.839 p.A280V 0.932 NULL superfamily_Prefoldin - no_errors CNTLN HGNC COQ3 51805 genome.wustl.edu 37 6 99828199 99828200 + Frame_Shift_Ins INS - - A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 99828199 99828200 - A INS COQ3 ENST00000254759 human ensembl 70_37 -1 known frame_shift_ins c.252_251 p.Y85fs 0.000:0.000 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC CPNE4 131034 genome.wustl.edu 37 3 131624203 131624203 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 131624203 131624203 G A SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known missense c.139 p.R47C 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE4 HGNC CXCR2 3579 genome.wustl.edu 37 2 219000467 219000467 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 219000467 219000467 G A SNP CXCR2 ENST00000318507 human ensembl 70_37 +1 known missense c.943 p.A315T 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXC/IL8_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2/IL8RB,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC DMD 1756 genome.wustl.edu 37 X 32408240 32408240 + Missense_Mutation SNP T T G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 32408240 32408240 T G SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.4292 p.N1431T 0.966 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH6 1768 genome.wustl.edu 37 2 84942753 84942754 + Splice_Site INS - - A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 84942753 84942754 - A INS DNAH6 ENST00000237449 human ensembl 70_37 +1 known splice_site_ins c.9611+2_9611+1 e57+2 1.000:0.967 - - - no_errors DNAH6 HGNC ENSG00000205148 0 genome.wustl.edu 37 15 96831368 96831368 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 96831368 96831368 G A SNP ENSG00000205148 ENST00000378936 human ensembl 70_37 -1 known missense c.293 p.S98F 0.000 NULL NULL - no_errors AC016251.1 Clone_based_ensembl_gene ENSG00000211459 0 genome.wustl.edu 37 MT 1342 1342 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe MT 1342 1342 C T SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000211459 0 genome.wustl.edu 37 MT 1365 1365 + RNA SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe MT 1365 1365 A G SNP ENSG00000211459 ENST00000389680 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors J01415.23 Clone_based_ensembl_gene ENSG00000215948 0 genome.wustl.edu 37 15 97634512 97634512 + RNA SNP A A C TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 97634512 97634512 A C SNP ENSG00000215948 ENST00000401129 human ensembl 70_37 -1 novel rna NULL NULL 0.132 - - - no_errors AC055873.1 Clone_based_ensembl_gene ENSG00000221134 0 genome.wustl.edu 37 16 49713203 49713203 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 49713203 49713203 C T SNP ENSG00000221134 ENST00000408207 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC007339.1 Clone_based_ensembl_gene ENSG00000233145 0 genome.wustl.edu 37 X 139099535 139099535 + RNA SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 139099535 139099535 C A SNP ENSG00000233145 ENST00000417426 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-364B14.1 Clone_based_vega_gene ENSG00000244758 0 genome.wustl.edu 37 7 19834 19834 + RNA SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 19834 19834 C G SNP ENSG00000244758 ENST00000480075 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors AC093627.6 Clone_based_vega_gene ENSG00000252258 0 genome.wustl.edu 37 18 3025532 3025533 + RNA INS - - A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 18 3025532 3025533 - A INS ENSG00000252258 ENST00000516449 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors SNORA70 RFAM EP300 2033 genome.wustl.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 22 41565529 41565529 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.4195 p.D1399N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ESRP2 80004 genome.wustl.edu 37 16 68265731 68265731 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 68265731 68265731 G A SNP ESRP2 ENST00000565858 human ensembl 70_37 -1 known missense c.1303 p.R435W 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC EVI5 7813 genome.wustl.edu 37 1 93160919 93160919 + Missense_Mutation SNP G G T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 93160919 93160919 G T SNP EVI5 ENST00000543509 human ensembl 70_37 -1 known missense c.989 p.T330K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC FAM21A 387680 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 70_37 +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC FMO1 2326 genome.wustl.edu 37 1 171239751 171239751 + RNA SNP T T G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 171239751 171239751 T G SNP FMO1 ENST00000469112 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors FMO1 HGNC FTHL17 53940 genome.wustl.edu 37 X 31089601 31089601 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 31089601 31089601 C T SNP FTHL17 ENST00000359202 human ensembl 70_37 -1 known missense c.470 p.R157H 0.001 pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTHL17 HGNC GAS6 2621 genome.wustl.edu 37 13 114537555 114537555 + Missense_Mutation SNP A A T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 13 114537555 114537555 A T SNP GAS6 ENST00000357389 human ensembl 70_37 -1 known missense c.803 p.L268H 1.000 superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37369055 37369055 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 37369055 37369055 G A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.5678 p.R1893K 0.009 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GOLGA8A 23015 genome.wustl.edu 37 15 34673973 34673973 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 34673973 34673973 C T SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.1628 p.R543Q 0.998 NULL NULL - no_errors GOLGA8A HGNC GOLGA8A 23015 genome.wustl.edu 37 15 34674006 34674006 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 34674006 34674006 C T SNP GOLGA8A ENST00000432566 human ensembl 70_37 -1 known missense c.1595 p.S532N 0.185 NULL NULL - no_errors GOLGA8A HGNC HTR2C 3358 genome.wustl.edu 37 X 114141190 114141190 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 114141190 114141190 G A SNP HTR2C ENST00000276198 human ensembl 70_37 +1 known missense c.589 p.E197K 0.898 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC IPO13 9670 genome.wustl.edu 37 1 44424143 44424143 + Missense_Mutation SNP G G T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 44424143 44424143 G T SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.1760 p.C587F 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC IRF8 3394 genome.wustl.edu 37 16 85952378 85952378 + Silent SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 85952378 85952378 C A SNP IRF8 ENST00000268638 human ensembl 70_37 +1 known silent c.957 p.V319 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC KAAG1 353219 genome.wustl.edu 37 6 24358086 24358086 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 24358086 24358086 C T SNP KAAG1 ENST00000274766 human ensembl 70_37 +1 known silent c.219 p.N73 0.000 NULL NULL - no_errors KAAG1 HGNC KCND3 3752 genome.wustl.edu 37 1 112525203 112525203 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 112525203 112525203 C T SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known missense c.146 p.R49Q 0.986 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC KDM2A 22992 genome.wustl.edu 37 11 67021785 67021785 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 67021785 67021785 G A SNP KDM2A ENST00000529006 human ensembl 70_37 +1 known missense c.3203 p.R1068Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC KLHL22 84861 genome.wustl.edu 37 22 20796610 20796610 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 22 20796610 20796610 C T SNP KLHL22 ENST00000328879 human ensembl 70_37 -1 known missense c.1655 p.R552H 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC KRTAP5-5 439915 genome.wustl.edu 37 11 1651178 1651178 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 1651178 1651178 G A SNP KRTAP5-5 ENST00000399676 human ensembl 70_37 +1 known silent c.108 p.G36 0.998 NULL NULL - no_errors KRTAP5-5 HGNC KRTAP5-5 439915 genome.wustl.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 GGCTGTGGA GGCTGTGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 1651191 1651199 GGCTGTGGA - DEL KRTAP5-5 ENST00000399676 human ensembl 70_37 +1 known in_frame_del c.121_129 p.GCG44in_frame_del 0.036:0.152:0.136:0.093:0.018:0.001:0.874:0.883:0.301 NULL NULL - no_errors KRTAP5-5 HGNC LRIT1 26103 genome.wustl.edu 37 10 85997188 85997188 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 85997188 85997188 G A SNP LRIT1 ENST00000372105 human ensembl 70_37 -1 known missense c.377 p.A126V 0.990 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC MAGEB16 139604 genome.wustl.edu 37 X 35820970 35820970 + Silent SNP T T C TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 35820970 35820970 T C SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known silent c.753 p.R251 0.847 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC MAP3K15 389840 genome.wustl.edu 37 X 19449566 19449566 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 19449566 19449566 C T SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.1156 p.A386T 0.990 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC MED14 9282 genome.wustl.edu 37 X 40571458 40571458 + Missense_Mutation SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 40571458 40571458 T A SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.869 p.Q290L 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC MTOR 2475 genome.wustl.edu 37 1 11181396 11181396 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 11181396 11181396 C T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known silent c.6840 p.L2280 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MYADML 151325 genome.wustl.edu 37 2 33952905 33952905 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 2 33952905 33952905 C T SNP MYADML ENST00000474610 human ensembl 70_37 -1 known rna NULL NULL 0.818 - - - no_errors MYADML HGNC NBPF3 84224 genome.wustl.edu 37 1 21809724 21809724 + Missense_Mutation SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 21809724 21809724 C G SNP NBPF3 ENST00000318249 human ensembl 70_37 +1 known missense c.1747 p.Q583E 0.000 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC NT5C1A 84618 genome.wustl.edu 37 1 40131256 40131256 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 40131256 40131256 C T SNP NT5C1A ENST00000235628 human ensembl 70_37 -1 known missense c.370 p.V124I 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC PARK2 5071 genome.wustl.edu 37 6 162683699 162683699 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 162683699 162683699 G A SNP PARK2 ENST00000366898 human ensembl 70_37 -1 known silent c.270 p.N90 0.000 pirsf_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr - no_errors PARK2 HGNC PKD2L1 9033 genome.wustl.edu 37 10 102089003 102089003 + Missense_Mutation SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 102089003 102089003 A G SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known missense c.314 p.L105S 0.985 prints_PKD_1 pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC PLD1 5337 genome.wustl.edu 37 3 171406541 171406541 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 171406541 171406541 G A SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known silent c.1464 p.D488 0.998 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC PLEKHO1 51177 genome.wustl.edu 37 1 150129152 150129152 + Silent SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 150129152 150129152 G A SNP PLEKHO1 ENST00000369124 human ensembl 70_37 +1 known silent c.366 p.S122 0.140 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC PTPRM 5797 genome.wustl.edu 37 18 8406235 8406235 + RNA SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 18 8406235 8406235 G A SNP PTPRM ENST00000580949 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRM HGNC RHOD 29984 genome.wustl.edu 37 11 66838981 66838981 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 11 66838981 66838981 G A SNP RHOD ENST00000308831 human ensembl 70_37 +1 known missense c.541 p.A181T 0.012 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOD HGNC RPLP0 6175 genome.wustl.edu 37 12 120638791 120638791 + RNA SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 120638791 120638791 G A SNP RPLP0 ENST00000551336 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RPLP0 HGNC RPS6KA2 6196 genome.wustl.edu 37 6 166872944 166872944 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 6 166872944 166872944 C T SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known silent c.1143 p.T381 0.999 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC SEMA3A 10371 genome.wustl.edu 37 7 83640560 83640560 + Silent SNP T T C TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 83640560 83640560 T C SNP SEMA3A ENST00000265362 human ensembl 70_37 -1 known silent c.864 p.K288 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC SH2D7 646892 genome.wustl.edu 37 15 78386459 78386459 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 15 78386459 78386459 C T SNP SH2D7 ENST00000328828 human ensembl 70_37 +1 novel missense c.182 p.T61M 0.998 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D7 HGNC SLC39A5 283375 genome.wustl.edu 37 12 56629106 56629106 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 56629106 56629106 C T SNP SLC39A5 ENST00000266980 human ensembl 70_37 +1 known missense c.800 p.P267L 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC SLC6A3 6531 genome.wustl.edu 37 5 1409228 1409228 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 5 1409228 1409228 C T SNP SLC6A3 ENST00000270349 human ensembl 70_37 -1 known missense c.1411 p.V471I 0.999 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC SLC9A7 84679 genome.wustl.edu 37 X 46618353 46618353 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe X 46618353 46618353 C T SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.112 p.A38T 0.941 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC SLCO1B1 10599 genome.wustl.edu 37 12 21355441 21355441 + Silent SNP T T G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 21355441 21355441 T G SNP SLCO1B1 ENST00000256958 human ensembl 70_37 +1 known silent c.1152 p.P384 0.089 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC SND1 27044 genome.wustl.edu 37 7 127725826 127725826 + Silent SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 127725826 127725826 C T SNP SND1 ENST00000354725 human ensembl 70_37 +1 known silent c.2298 p.Y766 0.986 pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease - no_errors SND1 HGNC TBC1D5 9779 genome.wustl.edu 37 3 17255822 17255822 + Missense_Mutation SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 17255822 17255822 C A SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known missense c.1629 p.E543D 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC TERC 7012 genome.wustl.edu 37 3 169482504 169482504 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 3 169482504 169482504 C T SNP TERC ENST00000363312 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors TERC HGNC TMEM129 92305 genome.wustl.edu 37 4 1719975 1719975 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 4 1719975 1719975 C T SNP TMEM129 ENST00000382936 human ensembl 70_37 -1 known missense c.584 p.R195Q 0.528 pfam_Tmpp129 pfam_Tmpp129 - no_errors TMEM129 HGNC TPTEP1 387590 genome.wustl.edu 37 22 17131536 17131537 + RNA INS - - CTG TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 22 17131536 17131537 - CTG INS TPTEP1 ENST00000426585 human ensembl 70_37 +1 known rna NULL NULL 0.999:0.999 - - - no_errors TPTEP1 HGNC TRPV2 51393 genome.wustl.edu 37 17 16335395 16335395 + Nonsense_Mutation SNP C C A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 17 16335395 16335395 C A SNP TRPV2 ENST00000338560 human ensembl 70_37 +1 known nonsense c.1770 p.Y590* 0.011 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC TRRAP 8295 genome.wustl.edu 37 7 98563429 98563429 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 98563429 98563429 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.7066 p.E2356K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TSSK1B 83942 genome.wustl.edu 37 5 112770223 112770223 + Missense_Mutation SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 5 112770223 112770223 C T SNP TSSK1B ENST00000390666 human ensembl 70_37 -1 known missense c.314 p.R105Q 0.177 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_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC WDR63 126820 genome.wustl.edu 37 1 85559238 85559238 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 1 85559238 85559238 G A SNP WDR63 ENST00000294664 human ensembl 70_37 +1 known missense c.955 p.D319N 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC WSCD2 9671 genome.wustl.edu 37 12 108638304 108638304 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 12 108638304 108638304 G A SNP WSCD2 ENST00000261400 human ensembl 70_37 +1 known missense c.1351 p.V451I 0.000 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ZNF419 79744 genome.wustl.edu 37 19 58005234 58005234 + Missense_Mutation SNP A A T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 58005234 58005234 A T SNP ZNF419 ENST00000424930 human ensembl 70_37 +1 known missense c.1312 p.S438C 0.032 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 ZNF419 HGNC ZNF48 197407 genome.wustl.edu 37 16 30409621 30409621 + Silent SNP C C G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 16 30409621 30409621 C G SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known silent c.1050 p.L350 0.975 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ZNF518A 9849 genome.wustl.edu 37 10 97921124 97921125 + RNA INS - - T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 10 97921124 97921125 - T INS ZNF518A ENST00000534948 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ZNF518A HGNC ZNF550 162972 genome.wustl.edu 37 19 58071046 58071046 + Missense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 58071046 58071046 G A SNP ZNF550 ENST00000376230 human ensembl 70_37 -1 known missense c.5 p.A2V 0.008 NULL 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 ZNF550 HGNC ZNF737 100129842 genome.wustl.edu 37 19 20727556 20727556 + Nonsense_Mutation SNP G G A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 20727556 20727556 G A SNP ZNF737 ENST00000427401 human ensembl 70_37 -1 known nonsense c.1453 p.R485* 0.003 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 ZNF737 HGNC ZNF765 91661 genome.wustl.edu 37 19 53926630 53926630 + RNA SNP C C T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 53926630 53926630 C T SNP ZNF765 ENST00000594627 human ensembl 70_37 +1 known rna NULL NULL 0.082 - - - no_errors ZNF765 HGNC ZNF786 136051 genome.wustl.edu 37 7 148768956 148768956 + Missense_Mutation SNP T T A TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 7 148768956 148768956 T A SNP ZNF786 ENST00000491431 human ensembl 70_37 -1 known missense c.908 p.K303M 0.000 NULL 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 ZNF786 HGNC ZNF90 7643 genome.wustl.edu 37 19 20228733 20228733 + Missense_Mutation SNP A A G TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 20228733 20228733 A G SNP ZNF90 ENST00000418063 human ensembl 70_37 +1 known missense c.370 p.K124E 0.012 NULL 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 ZNF90 HGNC ZNF90 7643 genome.wustl.edu 37 19 20228749 20228749 + Missense_Mutation SNP G G T TCGA-EA-A5O9-01A-11D-A28B-09 TCGA-EA-A5O9-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 56bf72b1-09a0-45d8-825a-ba50340c9d28 ad11f7bb-98ef-4d53-8c5b-703bc234efbe 19 20228749 20228749 G T SNP ZNF90 ENST00000418063 human ensembl 70_37 +1 known missense c.386 p.G129V 0.017 NULL 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 ZNF90 HGNC