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 ABCA13 154664 genome.wustl.edu 37 7 48412032 48412032 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 48412032 48412032 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known silent c.11071 p.L3691 0.931 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC AKAP14 158798 genome.wustl.edu 37 X 119037199 119037199 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 119037199 119037199 C G SNP AKAP14 ENST00000371431 human ensembl 70_37 +1 known missense c.13 p.Q5E 0.000 NULL NULL - no_errors AKAP14 HGNC ALDH3A2 224 genome.wustl.edu 37 17 19566669 19566669 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 19566669 19566669 G C SNP ALDH3A2 ENST00000339618 human ensembl 70_37 +1 known missense c.964 p.D322H 0.002 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ANKRD55 79722 genome.wustl.edu 37 5 55407482 55407482 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 55407482 55407482 G A SNP ANKRD55 ENST00000341048 human ensembl 70_37 -1 known missense c.1093 p.P365S 0.053 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ATP2B3 492 genome.wustl.edu 37 X 152808574 152808574 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 152808574 152808574 C T SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known silent c.864 p.I288 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ATP8B2 57198 genome.wustl.edu 37 1 154306643 154306643 + Nonsense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 154306643 154306643 G A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known nonsense c.749 p.W250* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC BCL6 604 genome.wustl.edu 37 3 187443293 187443293 + Frame_Shift_Del DEL A A - TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 187443293 187443293 A - DEL BCL6 ENST00000232014 human ensembl 70_37 -1 known frame_shift_del c.1833 p.F611fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC BRSK2 9024 genome.wustl.edu 37 11 1464590 1464590 + Missense_Mutation SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 1464590 1464590 C A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.728 p.A243E 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 - no_errors BRSK2 HGNC BRWD1 54014 genome.wustl.edu 37 21 40570860 40570860 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 21 40570860 40570860 C T SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.5482 p.E1828K 0.999 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC BRWD3 254065 genome.wustl.edu 37 X 79999566 79999566 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 79999566 79999566 G C SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.778 p.L260V 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC BUD13 84811 genome.wustl.edu 37 11 116633493 116633493 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 116633493 116633493 G A SNP BUD13 ENST00000260210 human ensembl 70_37 -1 known missense c.812 p.S271F 0.973 NULL pfam_Bud13 - no_errors BUD13 HGNC C11orf80 79703 genome.wustl.edu 37 11 66512290 66512291 + In_Frame_Ins INS - - GGC TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 66512290 66512291 - GGC INS C11orf80 ENST00000360962 human ensembl 70_37 +1 known in_frame_ins c.77_78 p.30in_frame_insA 0.001:0.003 NULL NULL - no_errors C11orf80 HGNC C12orf50 160419 genome.wustl.edu 37 12 88381726 88381726 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 88381726 88381726 G A SNP C12orf50 ENST00000298699 human ensembl 70_37 -1 known missense c.718 p.H240Y 1.000 NULL NULL - no_errors C12orf50 HGNC C14orf28 122525 genome.wustl.edu 37 14 45372445 45372445 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 14 45372445 45372445 G C SNP C14orf28 ENST00000325192 human ensembl 70_37 +1 known missense c.560 p.R187T 1.000 NULL NULL - no_errors C14orf28 HGNC C21orf88 114041 genome.wustl.edu 37 21 40981555 40981555 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 21 40981555 40981555 C G SNP C21orf88 ENST00000380612 human ensembl 70_37 -1 putative missense c.107 p.R36T 0.000 NULL NULL - no_errors C21orf88 HGNC CASP2 835 genome.wustl.edu 37 7 142989416 142989416 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 142989416 142989416 G C SNP CASP2 ENST00000310447 human ensembl 70_37 +1 known missense c.249 p.Q83H 0.999 pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP2 HGNC CCDC122 160857 genome.wustl.edu 37 13 44411505 44411505 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 13 44411505 44411505 G T SNP CCDC122 ENST00000444614 human ensembl 70_37 -1 putative missense c.733 p.Q245K 1.000 NULL NULL - no_errors CCDC122 HGNC CCDC88A 55704 genome.wustl.edu 37 2 55561531 55561531 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 55561531 55561531 C G SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.2426 p.R809T 1.000 superfamily_Prefoldin pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC CCDC88A 55704 genome.wustl.edu 37 2 55562045 55562045 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 55562045 55562045 C T SNP CCDC88A ENST00000436346 human ensembl 70_37 -1 known missense c.1912 p.E638K 1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC CCNL2 81669 genome.wustl.edu 37 1 1322818 1322818 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 1322818 1322818 G A SNP CCNL2 ENST00000400809 human ensembl 70_37 -1 known silent c.1356 p.C452 1.000 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC CDC14A 8556 genome.wustl.edu 37 1 100908539 100908539 + Missense_Mutation SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 100908539 100908539 A G SNP CDC14A ENST00000361544 human ensembl 70_37 +1 known missense c.506 p.Y169C 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC CGB1 114335 genome.wustl.edu 37 19 49538946 49538946 + Missense_Mutation SNP T T C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 49538946 49538946 T C SNP CGB1 ENST00000301407 human ensembl 70_37 -1 known missense c.389 p.D130G 0.493 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB1 HGNC CHD2 1106 genome.wustl.edu 37 15 93515518 93515518 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 93515518 93515518 G A SNP CHD2 ENST00000557381 human ensembl 70_37 +1 putative silent c.2376 p.K792 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC CHRNB2 1141 genome.wustl.edu 37 1 154544260 154544260 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 154544260 154544260 G A SNP CHRNB2 ENST00000368476 human ensembl 70_37 +1 known missense c.961 p.V321M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC CLASP2 23122 genome.wustl.edu 37 3 33580331 33580331 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 33580331 33580331 C G SNP CLASP2 ENST00000399362 human ensembl 70_37 -1 known missense c.3529 p.D1177H 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC CNTD2 79935 genome.wustl.edu 37 19 40732342 40732342 + Silent SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 40732342 40732342 C G SNP CNTD2 ENST00000430325 human ensembl 70_37 -1 known silent c.207 p.L69 0.568 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CNTD2 HGNC COL6A5 256076 genome.wustl.edu 37 3 130124439 130124439 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 130124439 130124439 G A SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.4289 p.R1430Q 0.706 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC DHFRL1 200895 genome.wustl.edu 37 3 93780081 93780081 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 93780081 93780081 C G SNP DHFRL1 ENST00000314636 human ensembl 70_37 -1 known missense c.275 p.R92T 0.982 pfam_DHFR_dom,superfamily_DHFR-like_dom pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR - no_errors DHFRL1 HGNC DHX16 8449 genome.wustl.edu 37 6 30633382 30633382 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 30633382 30633382 G A SNP DHX16 ENST00000376442 human ensembl 70_37 -1 known silent c.795 p.H265 0.131 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC DLC1 10395 genome.wustl.edu 37 8 13357394 13357394 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 8 13357394 13357394 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known missense c.187 p.D63N 0.952 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DLX3 1747 genome.wustl.edu 37 17 48072207 48072207 + Silent SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 48072207 48072207 C A SNP DLX3 ENST00000434704 human ensembl 70_37 -1 known silent c.156 p.S52 0.997 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC DOCK1 1793 genome.wustl.edu 37 10 129172094 129172094 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 10 129172094 129172094 G C SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.3419 p.R1140T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC DST 667 genome.wustl.edu 37 6 56417462 56417462 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 56417462 56417462 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.16035 p.F5345 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DYTN 391475 genome.wustl.edu 37 2 207572075 207572075 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 207572075 207572075 G A SNP DYTN ENST00000452335 human ensembl 70_37 -1 known missense c.247 p.P83S 0.982 pfam_EF-hand_dom_typ1 pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENHO 375704 genome.wustl.edu 37 9 34521558 34521558 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 34521558 34521558 C T SNP ENHO ENST00000399775 human ensembl 70_37 -1 known missense c.136 p.E46K 0.605 NULL NULL - no_errors ENHO HGNC ENPP1 5167 genome.wustl.edu 37 6 132171171 132171171 + Missense_Mutation SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 132171171 132171171 A G SNP ENPP1 ENST00000360971 human ensembl 70_37 +1 known missense c.355 p.N119D 1.000 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000210127 0 genome.wustl.edu 37 MT 5590 5590 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 MT 5590 5590 G A SNP ENSG00000210127 ENST00000387392 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.8 Clone_based_ensembl_gene ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117544 117544 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 GL000205.1 117544 117544 G C SNP ENSG00000212884 ENST00000391571 human ensembl 70_37 +1 known missense c.175 p.V59L NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000214970 0 genome.wustl.edu 37 17 10440966 10440966 + Splice_Site SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 10440966 10440966 G A SNP ENSG00000214970 ENST00000399342 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors CTC-297N7.7 Clone_based_vega_gene ENSG00000233513 0 genome.wustl.edu 37 6 85398359 85398359 + RNA SNP T T A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 85398359 85398359 T A SNP ENSG00000233513 ENST00000330469 human ensembl 70_37 -1 putative rna NULL NULL 0.885 - - - no_errors RP11-132M7.1 Clone_based_vega_gene ENSG00000263544 0 genome.wustl.edu 37 GL000220.1 118253 118253 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 GL000220.1 118253 118253 C T SNP ENSG00000263544 ENST00000582153 human ensembl 70_37 +1 known rna NULL NULL NULL - - - no_errors AL592188.3 Clone_based_ensembl_gene ERAP2 64167 genome.wustl.edu 37 5 96249054 96249054 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 96249054 96249054 C G SNP ERAP2 ENST00000437043 human ensembl 70_37 +1 known missense c.2550 p.I850M 0.798 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP2 HGNC ERBB2 2064 genome.wustl.edu 37 17 37879603 37879603 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 37879603 37879603 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.1978 p.G660R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERBB2 2064 genome.wustl.edu 37 17 37881425 37881425 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 37881425 37881425 G A SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.2617 p.D873N 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC FCF1 51077 genome.wustl.edu 37 14 75182714 75182714 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 14 75182714 75182714 C T SNP FCF1 ENST00000556814 human ensembl 70_37 +1 known missense c.161 p.T54I 1.000 NULL NULL - no_errors FCF1 HGNC FOXJ2 55810 genome.wustl.edu 37 12 8192501 8192501 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 8192501 8192501 G A SNP FOXJ2 ENST00000162391 human ensembl 70_37 +1 known missense c.73 p.E25K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC GABRB2 2561 genome.wustl.edu 37 5 160973755 160973755 + RNA SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 160973755 160973755 A G SNP GABRB2 ENST00000523730 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GABRB2 HGNC GPR173 54328 genome.wustl.edu 37 X 53106076 53106076 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 53106076 53106076 C G SNP GPR173 ENST00000332582 human ensembl 70_37 +1 known missense c.273 p.F91L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC GPR174 84636 genome.wustl.edu 37 X 78426971 78426971 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 78426971 78426971 G C SNP GPR174 ENST00000276077 human ensembl 70_37 +1 known missense c.467 p.R156T 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR174 HGNC GTF2I 2969 genome.wustl.edu 37 7 74113412 74113412 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 74113412 74113412 C T SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known silent c.360 p.F120 1.000 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC HCFC2 29915 genome.wustl.edu 37 12 104474574 104474574 + Nonsense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 104474574 104474574 C T SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known nonsense c.733 p.R245* 1.000 pfam_Kelch_1 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC HGFAC 3083 genome.wustl.edu 37 4 3446052 3446052 + Nonsense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 4 3446052 3446052 G T SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known nonsense c.613 p.E205* 0.664 pfam_Fibronectin_type1,smart_Fibronectin_type1,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Fibronectin_type1 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC HLA-G 3135 genome.wustl.edu 37 6 29796006 29796006 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 29796006 29796006 G C SNP HLA-G ENST00000376828 human ensembl 70_37 +1 known missense c.271 p.E91Q 0.000 pfam_MHC_I_a_a1/a2,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-G HGNC HSD17B14 51171 genome.wustl.edu 37 19 49339660 49339660 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 49339660 49339660 C T SNP HSD17B14 ENST00000263278 human ensembl 70_37 -1 known silent c.9 p.T3 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC IGF2-AS 51214 genome.wustl.edu 37 11 2168806 2168806 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 2168806 2168806 C T SNP IGF2-AS ENST00000381361 human ensembl 70_37 +1 known rna NULL NULL 0.106 - - - no_errors IGF2-AS HGNC INSL3 3640 genome.wustl.edu 37 19 17927708 17927708 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 17927708 17927708 G A SNP INSL3 ENST00000379695 human ensembl 70_37 -1 putative missense c.446 p.S149L 0.512 NULL superfamily_Insulin-like - no_errors INSL3 HGNC ITGA8 8516 genome.wustl.edu 37 10 15561412 15561412 + Splice_Site SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 10 15561412 15561412 C T SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known splice_site c.2983-1 e29-1 1.000 - - - no_errors ITGA8 HGNC ITGAX 3687 genome.wustl.edu 37 16 31368669 31368669 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 16 31368669 31368669 C T SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known silent c.414 p.L138 0.034 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ITPKA 3706 genome.wustl.edu 37 15 41786582 41786582 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 41786582 41786582 G T SNP ITPKA ENST00000260386 human ensembl 70_37 +1 known missense c.457 p.V153L 1.000 NULL pfam_IPK - no_errors ITPKA HGNC JPH3 57338 genome.wustl.edu 37 16 87678345 87678345 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 16 87678345 87678345 C T SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known silent c.864 p.Y288 1.000 pirsf_Junctophilin,pfam_MORN,smart_MORN pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC GLTSCR1L 23506 genome.wustl.edu 37 6 42790704 42790704 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 42790704 42790704 C T SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known missense c.122 p.S41F 1.000 NULL NULL - no_errors KIAA0240 HGNC KIF21B 23046 genome.wustl.edu 37 1 200977902 200977902 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 200977902 200977902 G A SNP KIF21B ENST00000422435 human ensembl 70_37 -1 known silent c.442 p.L148 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC KLF17 128209 genome.wustl.edu 37 1 44596347 44596347 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 44596347 44596347 G A SNP KLF17 ENST00000372299 human ensembl 70_37 +1 known silent c.1089 p.K363 0.687 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC KLRC1 3821 genome.wustl.edu 37 12 10603153 10603153 + Silent SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 10603153 10603153 G T SNP KLRC1 ENST00000359151 human ensembl 70_37 -1 known silent c.213 p.L71 1.000 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC LINC00029 100144596 genome.wustl.edu 37 20 61665882 61665882 + RNA SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 20 61665882 61665882 G C SNP LINC00029 ENST00000370341 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00029 HGNC LMTK3 114783 genome.wustl.edu 37 19 49013842 49013842 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 49013842 49013842 G A SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known silent c.171 p.F57 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC LOC401463 401463 genome.wustl.edu 37 8 65488963 65488963 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 8 65488963 65488963 C T SNP LOC401463 ENST00000517909 human ensembl 70_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-21C4.1 Clone_based_vega_gene MAGEE1 57692 genome.wustl.edu 37 X 75648955 75648955 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 75648955 75648955 C T SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.632 p.S211F 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649207 75649207 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 75649207 75649207 C T SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.884 p.S295F 0.086 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAP2 4133 genome.wustl.edu 37 2 210561651 210561651 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 210561651 210561651 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.4398 p.K1466 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP2 4133 genome.wustl.edu 37 2 210561658 210561658 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 210561658 210561658 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.4405 p.E1469K 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAPK8IP1 9479 genome.wustl.edu 37 11 45924612 45924612 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 45924612 45924612 G A SNP MAPK8IP1 ENST00000241014 human ensembl 70_37 +1 known missense c.1294 p.E432K 1.000 superfamily_SH3_domain pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC MDGA2 161357 genome.wustl.edu 37 14 47504461 47504461 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 14 47504461 47504461 G C SNP MDGA2 ENST00000557238 human ensembl 70_37 -1 known missense c.652 p.Q218E 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MDGA2 HGNC MPP2 4355 genome.wustl.edu 37 17 41958920 41958920 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 41958920 41958920 C T SNP MPP2 ENST00000461854 human ensembl 70_37 -1 known missense c.791 p.R264Q 0.019 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP2 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13393 13393 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 MT 13393 13393 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1057 p.E353K NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MTR 4548 genome.wustl.edu 37 1 236958908 236958908 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 236958908 236958908 C T SNP MTR ENST00000418145 human ensembl 70_37 +1 known silent c.288 p.L96 0.000 pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pfscan_S_MeTrfase - no_errors MTR HGNC NAV3 89795 genome.wustl.edu 37 12 78444771 78444771 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 78444771 78444771 G A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.2360 p.R787Q 0.991 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NINL 22981 genome.wustl.edu 37 20 25477429 25477429 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 20 25477429 25477429 C T SNP NINL ENST00000278886 human ensembl 70_37 -1 known missense c.1180 p.E394K 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC NUP205 23165 genome.wustl.edu 37 7 135276246 135276246 + Missense_Mutation SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 135276246 135276246 A G SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known missense c.1522 p.T508A 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC OGN 4969 genome.wustl.edu 37 9 95152240 95152240 + Nonsense_Mutation SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 95152240 95152240 C A SNP OGN ENST00000262551 human ensembl 70_37 -1 known nonsense c.526 p.E176* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC PCDHA7 56141 genome.wustl.edu 37 5 140215713 140215713 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 140215713 140215713 C T SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.1745 p.P582L 0.011 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC PCDHGB1 56104 genome.wustl.edu 37 5 140730998 140730998 + Nonsense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 140730998 140730998 G T SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known nonsense c.1171 p.E391* 0.049 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC PDXDC2P 283970 genome.wustl.edu 37 16 70068259 70068259 + RNA SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 16 70068259 70068259 C A SNP PDXDC2P ENST00000529089 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PDXDC2P HGNC PEPD 5184 genome.wustl.edu 37 19 33878885 33878885 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 33878885 33878885 C T SNP PEPD ENST00000244137 human ensembl 70_37 -1 known missense c.1255 p.D419N 0.997 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC PIGO 84720 genome.wustl.edu 37 9 35094192 35094192 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 35094192 35094192 G A SNP PIGO ENST00000465745 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIGO HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 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 PIK3CA 5290 genome.wustl.edu 37 3 178951964 178951964 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 178951964 178951964 G C SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.3019 p.G1007R 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_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 PLCD3 113026 genome.wustl.edu 37 17 43196380 43196380 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 43196380 43196380 C T SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known missense c.715 p.E239K 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC PLP1 5354 genome.wustl.edu 37 X 103041064 103041064 + RNA SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 103041064 103041064 C T SNP PLP1 ENST00000461231 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PLP1 HGNC PRUNE2 158471 genome.wustl.edu 37 9 79319881 79319881 + Nonsense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 79319881 79319881 G A SNP PRUNE2 ENST00000428286 human ensembl 70_37 -1 known nonsense c.6232 p.R2078* 0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC PTPRF 5792 genome.wustl.edu 37 1 44088825 44088825 + RNA SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 44088825 44088825 C G SNP PTPRF ENST00000496447 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTPRF HGNC PTPRQ 374462 genome.wustl.edu 37 12 81064201 81064201 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 12 81064201 81064201 C G SNP PTPRQ ENST00000266688 human ensembl 70_37 +1 known missense c.6520 p.L2174V 0.612 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC RALGAPA2 57186 genome.wustl.edu 37 20 20596757 20596757 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 20 20596757 20596757 C T SNP RALGAPA2 ENST00000202677 human ensembl 70_37 -1 known missense c.1618 p.D540N 1.000 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA2 HGNC RFWD2 64326 genome.wustl.edu 37 1 175996812 175996812 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 175996812 175996812 G C SNP RFWD2 ENST00000367669 human ensembl 70_37 -1 known missense c.1625 p.S542C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC RGS7BP 401190 genome.wustl.edu 37 5 63802466 63802466 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 63802466 63802466 G A SNP RGS7BP ENST00000334025 human ensembl 70_37 +1 known silent c.15 p.P5 1.000 NULL NULL - no_errors RGS7BP HGNC RIMS1 22999 genome.wustl.edu 37 6 72984127 72984127 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 6 72984127 72984127 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.3474 p.E1158 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC RPL23AP79 100271626 genome.wustl.edu 37 19 59110367 59110367 + RNA SNP C C A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 59110367 59110367 C A SNP RPL23AP79 ENST00000473164 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL23AP79 HGNC RYR3 6263 genome.wustl.edu 37 15 34113779 34113779 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 34113779 34113779 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.10971 p.N3657 0.995 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SDHA 6389 genome.wustl.edu 37 5 226026 226026 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 226026 226026 G C SNP SDHA ENST00000264932 human ensembl 70_37 +1 known missense c.485 p.R162T 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC SETX 23064 genome.wustl.edu 37 9 135204702 135204702 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 9 135204702 135204702 C T SNP SETX ENST00000372169 human ensembl 70_37 -1 known silent c.2283 p.S761 0.031 NULL NULL - no_errors SETX HGNC SLC17A6 57084 genome.wustl.edu 37 11 22363242 22363242 + Silent SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 22363242 22363242 C T SNP SLC17A6 ENST00000263160 human ensembl 70_37 +1 known silent c.255 p.F85 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC SLC25A3P1 163742 genome.wustl.edu 37 1 53904244 53904244 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 1 53904244 53904244 G A SNP SLC25A3P1 ENST00000566100 human ensembl 70_37 -1 known rna NULL NULL 0.762 - - - no_errors SLC25A3P1 HGNC SNORD3B-2 780852 genome.wustl.edu 37 17 18967104 18967104 + RNA SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 18967104 18967104 C G SNP SNORD3B-2 ENST00000571722 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 Clone_based_vega_gene SPATA4 132851 genome.wustl.edu 37 4 177114225 177114225 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 4 177114225 177114225 G A SNP SPATA4 ENST00000280191 human ensembl 70_37 -1 known silent c.351 p.F117 1.000 pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC STS 412 genome.wustl.edu 37 X 7252034 7252034 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 7252034 7252034 G T SNP STS ENST00000217961 human ensembl 70_37 +1 known missense c.1264 p.D422Y 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC TARSL2 123283 genome.wustl.edu 37 15 102211717 102211717 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 102211717 102211717 G T SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known missense c.1939 p.P647T 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC TMEM87B 84910 genome.wustl.edu 37 2 112873753 112873753 + RNA SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 2 112873753 112873753 G A SNP TMEM87B ENST00000471632 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM87B HGNC TP53BP1 7158 genome.wustl.edu 37 15 43738643 43738643 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 15 43738643 43738643 C T SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.2982 p.M994I 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TRRAP 8295 genome.wustl.edu 37 7 98580932 98580932 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 7 98580932 98580932 G A SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.8851 p.A2951T 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT 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 TTC3 7267 genome.wustl.edu 37 21 38523150 38523150 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 21 38523150 38523150 C T SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.2242 p.P748S 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC USH1C 10083 genome.wustl.edu 37 11 17517199 17517199 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 17517199 17517199 C T SNP USH1C ENST00000005226 human ensembl 70_37 -1 known missense c.2572 p.E858K 0.096 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC USP6 9098 genome.wustl.edu 37 17 5045313 5045313 + Missense_Mutation SNP G G T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 17 5045313 5045313 G T SNP USP6 ENST00000250066 human ensembl 70_37 +1 known missense c.1589 p.G530V 1.000 pfam_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC VSIG2 23584 genome.wustl.edu 37 11 124618303 124618303 + Silent SNP A A G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 11 124618303 124618303 A G SNP VSIG2 ENST00000326621 human ensembl 70_37 -1 known silent c.834 p.Y278 0.982 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG2 HGNC WDR49 151790 genome.wustl.edu 37 3 167217980 167217980 + Missense_Mutation SNP C C G TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 3 167217980 167217980 C G SNP WDR49 ENST00000308378 human ensembl 70_37 -1 known missense c.1936 p.E646Q 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ZFX 7543 genome.wustl.edu 37 X 24225503 24225503 + Missense_Mutation SNP C C T TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 X 24225503 24225503 C T SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.824 p.S275L 0.230 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ZNF572 137209 genome.wustl.edu 37 8 125989129 125989129 + Missense_Mutation SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 8 125989129 125989129 G C SNP ZNF572 ENST00000319286 human ensembl 70_37 +1 known missense c.619 p.E207Q 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ZNF608 57507 genome.wustl.edu 37 5 123972613 123972614 + RNA INS - - A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 123972613 123972614 - A INS ZNF608 ENST00000513985 human ensembl 70_37 -1 known rna NULL NULL 0.291:0.200 - - - no_errors ZNF608 HGNC ZNF69 7620 genome.wustl.edu 37 19 12014480 12014480 + Silent SNP G G C TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 12014480 12014480 G C SNP ZNF69 ENST00000429654 human ensembl 70_37 +1 known silent c.156 p.V52 0.992 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF69 HGNC ZNF787 126208 genome.wustl.edu 37 19 56614301 56614301 + Silent SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 19 56614301 56614301 G A SNP ZNF787 ENST00000587279 human ensembl 70_37 -1 putative silent c.286 p.L96 0.000 NULL NULL - no_errors ZNF787 HGNC ZNF879 345462 genome.wustl.edu 37 5 178459886 178459886 + Missense_Mutation SNP G G A TCGA-IR-A3LF-01A-21D-A22X-09 TCGA-IR-A3LF-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 224b26b0-dced-4b5a-95c1-c5d4c2348b07 1a368b09-b49b-404a-bc41-aa49cdc7d8a7 5 178459886 178459886 G A SNP ZNF879 ENST00000444149 human ensembl 70_37 +1 known missense c.937 p.E313K 1.000 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 ZNF879 HGNC