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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF NTNG1 0 genome.wustl.edu 37 1 107691262 107691262 + Missense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 107691262 107691262 T A SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.47 p.V16E 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 238 0 0 181 52 22.3176 STXBP3 0 genome.wustl.edu 37 1 109342845 109342845 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 109342845 109342845 G A SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.1453 p.A485T 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 140 0 0 114 25 17.9856 ENSG00000226849 0 genome.wustl.edu 37 1 11130859 11130859 + RNA SNP A A C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 11130859 11130859 A C SNP ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 88 0 0 39 68 63.5514 ENSG00000242663 0 genome.wustl.edu 37 1 149754507 149754507 + RNA SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 149754507 149754507 G A SNP ENSG00000242663 ENST00000420462 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-196G18.21 Clone_based_vega_gene ENSG00000242663 11 0 0 2 3 60 FLG2 0 genome.wustl.edu 37 1 152328248 152328248 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 152328248 152328248 C T SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2014 p.V672I 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 582 0 0 350 132 27.3859 OR10Z1 0 genome.wustl.edu 37 1 158576420 158576420 + Silent SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 158576420 158576420 C A SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.192 p.S64 0.305 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 354 0 0 296 108 26.7327 ENSG00000228863 0 genome.wustl.edu 37 1 160640841 160640841 + RNA SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 160640841 160640841 C T SNP ENSG00000228863 ENST00000598917 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors RP11-404F10.2 Clone_based_vega_gene ENSG00000228863 23 0 0 3 4 57.1429 GAS5 0 genome.wustl.edu 37 1 173833295 173833295 + RNA SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 173833295 173833295 A G SNP GAS5 ENST00000363840 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GAS5 HGNC ENSG00000234741 83 0 0 46 26 36.1111 BRINP2 0 genome.wustl.edu 37 1 177250031 177250031 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 177250031 177250031 G C SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.1719 p.Q573H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 65 0 0 47 14 22.9508 KCNT2 0 genome.wustl.edu 37 1 196197281 196197281 + RNA SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 196197281 196197281 C G SNP KCNT2 ENST00000498426 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNT2 HGNC ENSG00000162687 20 0 0 8 4 33.3333 PTPRC 0 genome.wustl.edu 37 1 198719669 198719669 + Nonsense_Mutation SNP G G T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 198719669 198719669 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known nonsense c.3121 p.E1041* 0.875 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 86 0 0 144 36 20 CHIT1 0 genome.wustl.edu 37 1 203188783 203188783 + RNA SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 203188783 203188783 T G SNP CHIT1 ENST00000506427 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors CHIT1 HGNC ENSG00000133063 242 1 0.411523 107 35 24.6479 C1orf116 0 genome.wustl.edu 37 1 207198408 207198408 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 207198408 207198408 C T SNP C1orf116 ENST00000359470 human ensembl 74_37 -1 known missense c.107 p.S36N 1.000 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 37 0 0 53 8 13.1148 ITPKB 0 genome.wustl.edu 37 1 226825434 226825434 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 226825434 226825434 C T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known silent c.2571 p.R857 0.990 pfam_IPK pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 47 0 0 32 3 8.57143 RYR2 0 genome.wustl.edu 37 1 237774171 237774171 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 237774171 237774171 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4787 p.R1596K 0.999 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 58 0 0 26 13 33.3333 MAP1LC3C 0 genome.wustl.edu 37 1 242159615 242159615 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 242159615 242159615 G A SNP MAP1LC3C ENST00000357246 human ensembl 74_37 -1 known silent c.294 p.S98 0.652 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors MAP1LC3C HGNC ENSG00000197769 278 0 0 173 52 23.1111 HIVEP3 0 genome.wustl.edu 37 1 41979398 41979398 + Missense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 41979398 41979398 C A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.5494 p.D1832Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 157 0 0 60 18 23.0769 ARTN 0 genome.wustl.edu 37 1 44401761 44401761 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 44401761 44401761 G A SNP ARTN ENST00000414809 human ensembl 74_37 +1 known silent c.81 p.A27 0.271 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors ARTN HGNC ENSG00000117407 54 0 0 25 7 21.875 FGGY 0 genome.wustl.edu 37 1 60073530 60073530 + Missense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 60073530 60073530 T A SNP FGGY ENST00000303721 human ensembl 74_37 +1 known missense c.959 p.M320K 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 153 0 0 217 16 6.86695 DOCK7 0 genome.wustl.edu 37 1 63119745 63119745 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 63119745 63119745 C T SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.230 p.R77Q 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 135 1 0.735294 63 56 47.0588 SERBP1 0 genome.wustl.edu 37 1 67895811 67895811 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 67895811 67895811 G A SNP SERBP1 ENST00000370995 human ensembl 74_37 -1 known missense c.173 p.A58V 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 241 0 0 98 77 44 MTF2 0 genome.wustl.edu 37 1 93594824 93594824 + RNA SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 93594824 93594824 T A SNP MTF2 ENST00000489480 human ensembl 74_37 +1 known rna NULL NULL 0.552 - - - no_errors MTF2 HGNC ENSG00000143033 83 0 0 70 32 31.3725 TMEM56 0 genome.wustl.edu 37 1 95609526 95609526 + Missense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 95609526 95609526 C A SNP TMEM56 ENST00000370203 human ensembl 74_37 +1 novel missense c.69 p.F23L 1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM56 HGNC ENSG00000152078 137 0 0 94 36 27.6923 TDRD1 0 genome.wustl.edu 37 10 115970506 115970506 + Silent SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 10 115970506 115970506 C A SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known silent c.1551 p.G517 0.996 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 122 0 0 122 18 12.8571 PDZD8 0 genome.wustl.edu 37 10 119043857 119043857 + Missense_Mutation SNP A A C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 10 119043857 119043857 A C SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known missense c.2387 p.L796W 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 106 0 0 79 23 22.549 PPP2R2D 0 genome.wustl.edu 37 10 133757520 133757520 + Nonsense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 10 133757520 133757520 C T SNP PPP2R2D ENST00000455566 human ensembl 74_37 +1 known nonsense c.433 p.R145* 0.802 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC ENSG00000175470 93 0 0 40 20 33.3333 USP54 0 genome.wustl.edu 37 10 75289641 75289641 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 10 75289641 75289641 G C SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.1857 p.S619R 0.987 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 212 0 0 130 51 28.1768 NDST2 0 genome.wustl.edu 37 10 75567759 75567759 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 10 75567759 75567759 T C SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known missense c.388 p.N130D 0.529 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 228 0 0 128 40 23.8095 LOC440040 0 genome.wustl.edu 37 11 49598099 49598099 + RNA SNP A A C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 11 49598099 49598099 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 42 0 0 21 12 36.3636 DAGLA 0 genome.wustl.edu 37 11 61488300 61488300 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 11 61488300 61488300 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.245 p.R82H 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 178 0 0 91 39 30 SLC3A2 0 genome.wustl.edu 37 11 62652974 62652974 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 11 62652974 62652974 C T SNP SLC3A2 ENST00000377892 human ensembl 74_37 +1 known missense c.1433 p.A478V 0.008 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 603 0 0 399 34 7.85219 APBB1 0 genome.wustl.edu 37 11 6432549 6432549 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 11 6432549 6432549 G A SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known missense c.29 p.S10L 1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 273 0 0 63 46 42.2018 GRM5 0 genome.wustl.edu 37 11 88780628 88780628 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 11 88780628 88780628 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.413 p.R138H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 121 0 0 74 17 18.6813 FAT3 0 genome.wustl.edu 37 11 92086577 92086577 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 11 92086577 92086577 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.1299 p.R433 0.248 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 37 0 0 21 7 25 KRT72 0 genome.wustl.edu 37 12 52992799 52992799 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 52992799 52992799 A G SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.524 p.I175T 0.549 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 312 0 0 152 108 41.5385 ESPL1 0 genome.wustl.edu 37 12 53668761 53668761 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 53668761 53668761 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.1667 p.A556V 0.988 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 81 0 0 33 3 8.33333 HOXC10 0 genome.wustl.edu 37 12 54383121 54383121 + Missense_Mutation SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 54383121 54383121 T G SNP HOXC10 ENST00000303460 human ensembl 74_37 +1 known missense c.920 p.L307R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 148 0 0 77 35 31.25 SLC16A7 0 genome.wustl.edu 37 12 60173407 60173407 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 60173407 60173407 G A SNP SLC16A7 ENST00000261187 human ensembl 74_37 +1 known missense c.1384 p.V462I 0.016 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC ENSG00000118596 48 0 0 32 10 23.8095 MSRB3 0 genome.wustl.edu 37 12 65720710 65720710 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 65720710 65720710 G A SNP MSRB3 ENST00000355192 human ensembl 74_37 +1 known missense c.202 p.E68K 1.000 pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC ENSG00000174099 47 0 0 24 7 22.5806 CD4 0 genome.wustl.edu 37 12 6923370 6923370 + Missense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 6923370 6923370 C A SNP CD4 ENST00000011653 human ensembl 74_37 +1 known missense c.277 p.P93T 0.693 pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 316 0 0 239 60 20.0669 FAM90A1 0 genome.wustl.edu 37 12 8375060 8375060 + Silent SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 8375060 8375060 G C SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known silent c.753 p.L251 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 180 0 0 119 11 8.46154 A2ML1 0 genome.wustl.edu 37 12 8988261 8988261 + Silent SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 8988261 8988261 T C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.642 p.Y214 0.996 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 128 0 0 43 24 35.8209 BIVM 0 genome.wustl.edu 37 13 103468859 103468859 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 13 103468859 103468859 C G SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.560 p.P187R 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 211 0 0 115 52 31.1377 SLC46A3 0 genome.wustl.edu 37 13 29287281 29287281 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 13 29287281 29287281 G A SNP SLC46A3 ENST00000266943 human ensembl 74_37 -1 known missense c.596 p.S199L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 147 0 0 63 32 33.6842 MTUS2-AS1 0 genome.wustl.edu 37 13 30061951 30061951 + RNA SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 13 30061951 30061951 G C SNP MTUS2-AS1 ENST00000323380 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MTUS2-AS1 HGNC ENSG00000179141 64 0 0 28 10 26.3158 NAA16 0 genome.wustl.edu 37 13 41947902 41947902 + Splice_Site SNP A A T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 13 41947902 41947902 A T SNP NAA16 ENST00000477452 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors NAA16 HGNC ENSG00000172766 279 0 0 167 50 23.0415 ADCY4 0 genome.wustl.edu 37 14 24788315 24788315 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 14 24788315 24788315 C T SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.2945 p.R982H 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 310 0 0 125 40 24.2424 PRKD1 0 genome.wustl.edu 37 14 30095727 30095727 + Silent SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 14 30095727 30095727 T C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known silent c.1761 p.E587 0.999 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 115 0 0 58 29 33.3333 NRXN3 0 genome.wustl.edu 37 14 80328211 80328211 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 14 80328211 80328211 C T SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known silent c.3090 p.S1030 0.993 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 68 0 0 32 9 21.9512 NPAP1 0 genome.wustl.edu 37 15 24921084 24921084 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 15 24921084 24921084 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.70 p.A24T 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 55 0 0 11 7 38.8889 WDR72 0 genome.wustl.edu 37 15 53815461 53815461 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 15 53815461 53815461 C T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.3207 p.V1069 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 263 1 0.378788 187 78 29.434 HS3ST3A1 0 genome.wustl.edu 37 17 13400097 13400097 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 13400097 13400097 A G SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known missense c.638 p.M213T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 205 0 0 82 13 13.6842 HS3ST3B1 0 genome.wustl.edu 37 17 14248383 14248383 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 14248383 14248383 T C SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known missense c.593 p.M198T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 62 0 0 9 8 47.0588 ZNF624 0 genome.wustl.edu 37 17 16525840 16525840 + Missense_Mutation SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 16525840 16525840 T G SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.2360 p.K787T 0.999 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 ZNF624 HGNC ENSG00000197566 158 0 0 74 4 5.12821 C17orf102 0 genome.wustl.edu 37 17 32906083 32906083 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 32906083 32906083 T C SNP C17orf102 ENST00000357754 human ensembl 74_37 -1 known missense c.217 p.T73A 0.024 NULL NULL - no_errors C17orf102 HGNC ENSG00000197322 232 0 0 87 10 10.3093 PTGES3L-AARSD1 0 genome.wustl.edu 37 17 41102638 41102638 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 41102638 41102638 T C SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 74_37 -1 known missense c.1733 p.Y578C 0.116 NULL pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 112 0 0 27 26 49.0566 BRCA1 0 genome.wustl.edu 37 17 41245963 41245963 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 41245963 41245963 G A SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.1585 p.P529S 0.002 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 79 0 0 27 23 46 USP32 0 genome.wustl.edu 37 17 58299833 58299833 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 58299833 58299833 G A SNP USP32 ENST00000300896 human ensembl 74_37 -1 known silent c.1686 p.V562 0.856 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 761 1 0.131234 377 122 24.4489 C17orf77 0 genome.wustl.edu 37 17 72588276 72588276 + Missense_Mutation SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 72588276 72588276 T C SNP C17orf77 ENST00000328023 human ensembl 74_37 +1 known missense c.91 p.C31R 0.000 NULL NULL - no_errors C17orf77 HGNC ENSG00000182352 153 0 0 92 28 23.3333 TP53 0 genome.wustl.edu 37 17 7577532 7577532 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 17 7577532 7577532 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.749 p.P250L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 138 0 0 38 48 55.814 OSBPL1A 0 genome.wustl.edu 37 18 21894248 21894248 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 18 21894248 21894248 G A SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.934 p.R312W 0.997 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 202 0 0 192 38 16.5217 ATP8B1 0 genome.wustl.edu 37 18 55362738 55362738 + Nonsense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 18 55362738 55362738 G C SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known nonsense c.725 p.S242* 0.961 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 132 0 0 72 4 5.26316 RDH8 0 genome.wustl.edu 37 19 10129585 10129585 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 10129585 10129585 G A SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known silent c.501 p.Q167 0.998 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 183 0 0 34 28 45.1613 CACNA1A 0 genome.wustl.edu 37 19 13411396 13411396 + Silent SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 13411396 13411396 A G SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.2247 p.S749 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 355 1 0.280899 311 64 17.0667 PKN1 0 genome.wustl.edu 37 19 14561879 14561879 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 14561879 14561879 G A SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known missense c.946 p.A316T 0.970 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 8 0 0 19 6 24 WIZ 0 genome.wustl.edu 37 19 15559049 15559049 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 15559049 15559049 G A SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.70 p.P24S 0.948 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 207 0 0 192 12 5.88235 ZNF738 0 genome.wustl.edu 37 19 21558721 21558721 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 21558721 21558721 G A SNP ZNF738 ENST00000597810 human ensembl 74_37 +1 putative missense c.274 p.D92N 0.845 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF738 HGNC ENSG00000172687 135 0 0 374 23 5.79345 ZNF738 0 genome.wustl.edu 37 19 21558722 21558722 + Missense_Mutation SNP A A T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 21558722 21558722 A T SNP ZNF738 ENST00000597810 human ensembl 74_37 +1 putative missense c.275 p.D92V 0.854 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF738 HGNC ENSG00000172687 136 0 0 368 23 5.88235 ZNF599 0 genome.wustl.edu 37 19 35250430 35250430 + Nonsense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 35250430 35250430 T A SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known nonsense c.1276 p.K426* 0.992 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 ZNF599 HGNC ENSG00000153896 107 0 0 323 23 6.6474 LILRP2 0 genome.wustl.edu 37 19 55221559 55221559 + RNA SNP G G T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 55221559 55221559 G T SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LILRP2 HGNC ENSG00000170858 120 0 0 74 4 5.12821 LILRP2 0 genome.wustl.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 55221570 55221570 A C SNP LILRP2 ENST00000413439 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LILRP2 HGNC ENSG00000170858 138 1 0.719424 70 4 5.40541 GP6 0 genome.wustl.edu 37 19 55526287 55526287 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 55526287 55526287 G A SNP GP6 ENST00000310373 human ensembl 74_37 -1 known silent c.1026 p.T342 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 91 0 0 32 19 37.2549 ENSG00000267751 0 genome.wustl.edu 37 19 571674 571674 + RNA SNP A A T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 571674 571674 A T SNP ENSG00000267751 ENST00000589457 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC009005.2 Clone_based_vega_gene ENSG00000267751 23 0 0 24 6 20 WDR18 0 genome.wustl.edu 37 19 992110 992110 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 19 992110 992110 C T SNP WDR18 ENST00000251289 human ensembl 74_37 +1 known missense c.1087 p.L363F 0.961 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 WDR18 HGNC ENSG00000065268 18 0 0 3 4 57.1429 IL1RL2 0 genome.wustl.edu 37 2 102804325 102804325 + Nonsense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 102804325 102804325 G A SNP IL1RL2 ENST00000441515 human ensembl 74_37 +1 known nonsense c.78 p.W26* 0.016 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RL2 HGNC ENSG00000115598 263 0 0 99 43 30.2817 XIRP2 0 genome.wustl.edu 37 2 168104460 168104460 + Silent SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 168104460 168104460 T G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.6558 p.T2186 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 95 0 0 76 25 24.7525 XIRP2 0 genome.wustl.edu 37 2 168107180 168107180 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 168107180 168107180 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.9278 p.R3093H 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 126 0 0 95 38 28.5714 PGAP1 0 genome.wustl.edu 37 2 197708744 197708744 + Nonsense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 197708744 197708744 G C SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known nonsense c.2393 p.S798* 0.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 71 0 0 49 20 28.9855 NBEAL1 0 genome.wustl.edu 37 2 204000806 204000806 + Missense_Mutation SNP T T A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 204000806 204000806 T A SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.4133 p.I1378N 0.981 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 128 0 0 76 23 23.2323 INPP5D 0 genome.wustl.edu 37 2 233986859 233986859 + Missense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 233986859 233986859 C A SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.241 p.Q81K 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 208 0 0 79 13 14.1304 NEU4 0 genome.wustl.edu 37 2 242758315 242758315 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 242758315 242758315 G A SNP NEU4 ENST00000325935 human ensembl 74_37 +1 known missense c.1435 p.A479T 0.000 NULL superfamily_Sialidases - no_errors NEU4 HGNC ENSG00000204099 39 0 0 10 7 41.1765 TET3 0 genome.wustl.edu 37 2 74328640 74328640 + Silent SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 74328640 74328640 G C SNP TET3 ENST00000409262 human ensembl 74_37 +1 known silent c.4320 p.L1440 0.998 NULL NULL - no_errors TET3 HGNC ENSG00000187605 37 0 0 21 8 27.5862 HSPA12B 0 genome.wustl.edu 37 20 3726571 3726571 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 20 3726571 3726571 G A SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known missense c.568 p.E190K 1.000 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 258 0 0 95 43 31.1594 BCL2L13 0 genome.wustl.edu 37 22 18209612 18209612 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 22 18209612 18209612 C T SNP BCL2L13 ENST00000317582 human ensembl 74_37 +1 known missense c.770 p.S257L 0.999 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC ENSG00000099968 104 0 0 50 21 29.5775 BCL2L13 0 genome.wustl.edu 37 22 18209747 18209747 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 22 18209747 18209747 C G SNP BCL2L13 ENST00000317582 human ensembl 74_37 +1 known missense c.905 p.S302C 1.000 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC ENSG00000099968 134 0 0 67 7 9.45946 SGSM1 0 genome.wustl.edu 37 22 25313668 25313668 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 22 25313668 25313668 A G SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.3137 p.D1046G 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 110 0 0 57 4 6.55738 ZNRF3 0 genome.wustl.edu 37 22 29445281 29445281 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 22 29445281 29445281 G A SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.1112 p.R371H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 211 0 0 94 34 26.5625 ZBED2 0 genome.wustl.edu 37 3 111312961 111312961 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 111312961 111312961 C G SNP ZBED2 ENST00000317012 human ensembl 74_37 -1 known missense c.88 p.E30Q 0.192 NULL pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED2 HGNC ENSG00000177494 192 0 0 116 7 5.69106 PHLDB2 0 genome.wustl.edu 37 3 111659435 111659435 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 111659435 111659435 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known silent c.2340 p.Q780 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 75 0 0 40 13 24.5283 WDR52 0 genome.wustl.edu 37 3 113120574 113120574 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 113120574 113120574 C T SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.1183 p.E395K 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 86 0 0 79 20 20.202 GOLGB1 0 genome.wustl.edu 37 3 121445864 121445864 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 121445864 121445864 C T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.427 p.E143K 0.054 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 93 0 0 52 20 27.7778 DNAH1 0 genome.wustl.edu 37 3 52392752 52392752 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 52392752 52392752 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.4265 p.T1422M 0.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 96 0 0 47 18 27.6923 CNTN3 0 genome.wustl.edu 37 3 74351856 74351856 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 74351856 74351856 C G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1771 p.D591H 0.976 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 61 0 0 33 11 25 OR5H14 0 genome.wustl.edu 37 3 97869090 97869090 + Silent SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 97869090 97869090 C G SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known silent c.861 p.P287 0.506 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 47 0 0 47 20 29.8507 NDST3 0 genome.wustl.edu 37 4 119059215 119059215 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 4 119059215 119059215 G A SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1231 p.G411S 0.981 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 134 0 0 41 30 42.2535 DND1 0 genome.wustl.edu 37 5 140052407 140052407 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 5 140052407 140052407 G A SNP DND1 ENST00000542735 human ensembl 74_37 -1 known missense c.227 p.P76L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 30 0 0 13 5 27.7778 CYFIP2 0 genome.wustl.edu 37 5 156714037 156714037 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 5 156714037 156714037 G C SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.127 p.D43H 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 84 0 0 24 18 42.8571 GRIK2 0 genome.wustl.edu 37 6 102247533 102247533 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 102247533 102247533 C T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.962 p.A321V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 258 0 0 178 57 24.2553 PERP 0 genome.wustl.edu 37 6 138428360 138428360 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 138428360 138428360 C T SNP PERP ENST00000421351 human ensembl 74_37 -1 known missense c.118 p.D40N 0.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC ENSG00000112378 137 0 0 120 15 11.1111 SCAND3 0 genome.wustl.edu 37 6 28543037 28543037 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 28543037 28543037 C G SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1445 p.R482T 0.104 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 119 0 0 98 29 22.8346 RGL2 0 genome.wustl.edu 37 6 33263368 33263368 + Nonsense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 33263368 33263368 C A SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known nonsense c.937 p.E313* 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 104 1 0.952381 64 10 13.5135 ITPR3 0 genome.wustl.edu 37 6 33652629 33652629 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 33652629 33652629 A G SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.5216 p.D1739G 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 214 1 0.465116 160 14 8.04598 EYS 0 genome.wustl.edu 37 6 66063378 66063378 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 66063378 66063378 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1432 p.E478K 0.036 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 107 0 0 82 35 29.9145 ENSG00000243501 0 genome.wustl.edu 37 6 73952192 73952192 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 73952192 73952192 G A SNP ENSG00000243501 ENST00000423730 human ensembl 74_37 -1 known missense c.49 p.P17S 0.005 NULL NULL - no_errors RP11-257K9.8 Clone_based_vega_gene ENSG00000243501 167 0 0 93 30 24.3902 MRAP2 0 genome.wustl.edu 37 6 84798909 84798909 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 6 84798909 84798909 C T SNP MRAP2 ENST00000257776 human ensembl 74_37 +1 known silent c.327 p.N109 0.001 NULL NULL - no_errors MRAP2 HGNC ENSG00000135324 163 0 0 104 51 32.9032 PTPRZ1 0 genome.wustl.edu 37 7 121653684 121653684 + Silent SNP T T C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 7 121653684 121653684 T C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.4584 p.S1528 0.231 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 110 0 0 50 11 18.0328 KMT2C 0 genome.wustl.edu 37 7 151859927 151859927 + Nonsense_Mutation SNP C C A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 7 151859927 151859927 C A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.10735 p.G3579* 0.389 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 125 0 0 54 4 6.89655 FAM220A 0 genome.wustl.edu 37 7 6370486 6370486 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 7 6370486 6370486 C T SNP FAM220A ENST00000313324 human ensembl 74_37 -1 known silent c.300 p.P100 0.000 NULL NULL - no_errors FAM220A HGNC ENSG00000178397 136 0 0 103 21 16.9355 ZFAT 0 genome.wustl.edu 37 8 135614852 135614852 + Missense_Mutation SNP G G C TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 8 135614852 135614852 G C SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1110 p.I370M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 157 0 0 132 10 7.04225 SLC45A4 0 genome.wustl.edu 37 8 142229090 142229090 + Missense_Mutation SNP C C G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 8 142229090 142229090 C G SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.649 p.D217H 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 203 0 0 101 31 23.4848 CPSF1 0 genome.wustl.edu 37 8 145621891 145621891 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 8 145621891 145621891 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.2748 p.G916 0.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 310 0 0 170 73 30.0412 ERICH1 0 genome.wustl.edu 37 8 642594 642594 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 8 642594 642594 G A SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known missense c.188 p.P63L 0.000 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 127 0 0 35 17 32.6923 ZFHX4 0 genome.wustl.edu 37 8 77767078 77767078 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 8 77767078 77767078 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7921 p.E2641K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 107 0 0 54 23 29.8701 RGS3 0 genome.wustl.edu 37 9 116346512 116346512 + Silent SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 9 116346512 116346512 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known silent c.2820 p.R940 1.000 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 207 1 0.480769 87 34 28.0992 DFNB31 0 genome.wustl.edu 37 9 117185721 117185721 + Missense_Mutation SNP A A G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 9 117185721 117185721 A G SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.1499 p.I500T 0.997 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 301 0 0 175 33 15.8654 SPATA31D1 0 genome.wustl.edu 37 9 84607898 84607898 + Missense_Mutation SNP T T G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 9 84607898 84607898 T G SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2513 p.F838C 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 166 1 0.598802 78 32 29.0909 FAM120A 0 genome.wustl.edu 37 9 96214522 96214522 + Missense_Mutation SNP G G A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 9 96214522 96214522 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.325 p.V109I 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 28 0 0 4 11 73.3333 NRK 0 genome.wustl.edu 37 X 105197150 105197150 + Silent SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef X 105197150 105197150 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known silent c.4641 p.C1547 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 8 0 0 7 4 36.3636 HUWE1 0 genome.wustl.edu 37 X 53564520 53564520 + Missense_Mutation SNP C C T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef X 53564520 53564520 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.12134 p.R4045Q 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 24 0 0 4 8 66.6667 PIGR 0 genome.wustl.edu 37 1 207110552 207110554 + In_Frame_Del DEL CAC CAC - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 1 207110552 207110554 CAC - DEL PIGR ENST00000356495 human ensembl 74_37 -1 known in_frame_del c.933_931 p.V311in_frame_del 0.000:0.000:0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 137 0 0 155 27 14.8352 BEST3 0 genome.wustl.edu 37 12 70049361 70049362 + Frame_Shift_Ins INS - - G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 12 70049361 70049362 - G INS BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_ins c.1333_1332 p.R444fs 0.001:0.001 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 174 1 0.571429 127 33 20.625 MYO16 0 genome.wustl.edu 37 13 109661386 109661386 + Frame_Shift_Del DEL T T - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 13 109661386 109661386 T - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.2518 p.F842fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 158 0 0 103 20 16.2602 COL4A1 0 genome.wustl.edu 37 13 110838820 110838821 + Frame_Shift_Ins INS - - G TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 13 110838820 110838821 - G INS COL4A1 ENST00000375820 human ensembl 74_37 -1 known frame_shift_ins c.1809_1808 p.G604fs 0.909:1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 253 0 0 142 12 7.79221 KBTBD7 0 genome.wustl.edu 37 13 41766772 41766775 + Frame_Shift_Del DEL CTAG CTAG - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 CTAG CTAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 13 41766772 41766775 CTAG - DEL KBTBD7 ENST00000379483 human ensembl 74_37 -1 known frame_shift_del c.1622_1619 p.A540fs 1.000:1.000:1.000:1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 393 0 0 199 49 19.7581 MBIP 0 genome.wustl.edu 37 14 36770037 36770037 + RNA DEL A A - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 14 36770037 36770037 A - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241 - - - no_errors MBIP HGNC ENSG00000151332 27 0 0 13 2 13.3333 TPPP3 0 genome.wustl.edu 37 16 67424253 67424254 + Frame_Shift_Del DEL CT CT - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 16 67424253 67424254 CT - DEL TPPP3 ENST00000290942 human ensembl 74_37 -1 known frame_shift_del c.355_354 p.G120fs 0.012:0.009 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP3 HGNC ENSG00000159713 433 0 0 125 25 16.6667 BIRC6 0 genome.wustl.edu 37 2 32673875 32673876 + Frame_Shift_Ins INS - - A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 2 32673875 32673876 - A INS BIRC6 ENST00000421745 human ensembl 74_37 +1 known frame_shift_ins c.4497_4498 p.S1499fs 0.998:1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 170 0 0 72 27 27.2727 ENSG00000230440 0 genome.wustl.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 20 26113543 26113543 A - DEL ENSG00000230440 ENST00000416563 human ensembl 74_37 -1 known rna NULL NULL 0.089 - - - no_errors RP13-329D4.3 Clone_based_vega_gene ENSG00000230440 17 0 0 9 2 18.1818 CENPB 0 genome.wustl.edu 37 20 3766368 3766369 + Frame_Shift_Ins INS - - T TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 20 3766368 3766369 - T INS CENPB ENST00000379751 human ensembl 74_37 -1 known frame_shift_ins c.763_762 p.A254fs 0.478:0.480 pfam_DDE_SF_endonuclease_CENPB-like pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 70 0 0 37 4 9.7561 FETUB 0 genome.wustl.edu 37 3 186370130 186370130 + Frame_Shift_Del DEL A A - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 186370130 186370130 A - DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.859 p.N288fs 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 484 0 0 218 78 26.3514 CTDSPL 0 genome.wustl.edu 37 3 38017246 38017246 + Frame_Shift_Del DEL G G - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 38017246 38017246 G - DEL CTDSPL ENST00000273179 human ensembl 74_37 +1 known frame_shift_del c.566 p.A190fs 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL HGNC ENSG00000144677 336 0 0 167 50 23.0415 USP19 0 genome.wustl.edu 37 3 49149979 49149987 + In_Frame_Del DEL AAAGCAGAG AAAGCAGAG - TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 AAAGCAGAG AAAGCAGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 3 49149979 49149987 AAAGCAGAG - DEL USP19 ENST00000398888 human ensembl 74_37 -1 known in_frame_del c.2280_2272 p.LCF758in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 227 0 0 107 16 13.0081 ATP10B 0 genome.wustl.edu 37 5 160067471 160067472 + Frame_Shift_Ins INS - - A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef 5 160067471 160067472 - A INS ATP10B ENST00000327245 human ensembl 74_37 -1 known frame_shift_ins c.997_996 p.V332fs 0.033:0.042 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 264 0 0 78 42 35 CD99 0 genome.wustl.edu 37 X 2637596 2637597 + RNA INS - - A TCGA-CG-4449-01A-01D-1158-08 TCGA-CG-4449-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fa76e231-afc1-490d-8463-4438ee64a36f 1318498f-4165-4777-b997-e3ec9346d8ef X 2637596 2637597 - A INS CD99 ENST00000497752 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.003 - - - no_errors CD99 HGNC ENSG00000002586 297 0 0 134 69 33.9901