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 ADAMTS20 0 genome.wustl.edu 37 12 43771250 43771250 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 43771250 43771250 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4913 p.P1638L 0.997 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 47 0 0.00 47 7 12.96 AFG3L1P 0 genome.wustl.edu 37 16 90066363 90066363 + RNA SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 16 90066363 90066363 G A SNP AFG3L1P ENST00000388970 human ensembl 74_37 +1 known rna NULL NULL 0.966 - - - no_errors AFG3L1P HGNC ENSG00000223959 tier1 - - 34 0 0.00 17 12 41.38 AGAP10 0 genome.wustl.edu 37 10 47207813 47207813 + Missense_Mutation SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 10 47207813 47207813 T C SNP AGAP10 ENST00000413193 human ensembl 74_37 -1 known missense c.683 p.H228R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP10 HGNC ENSG00000204172 tier1 rs202014361 - 93 0 0.00 68 9 11.69 AMBRA1 0 genome.wustl.edu 37 11 46563800 46563800 + Silent SNP A A G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 46563800 46563800 A G SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.1767 p.P589 0.627 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 24 0 0.00 33 10 23.26 AMPH 0 genome.wustl.edu 37 7 38502672 38502672 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 38502672 38502672 G A SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.791 p.P264L 0.992 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 tier1 - - 58 0 0.00 85 6 6.59 ANKLE2 0 genome.wustl.edu 37 12 133306568 133306568 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 133306568 133306568 G A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.2180 p.P727L 0.749 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 27 0 0.00 23 3 11.54 ANKRD20A5P 0 genome.wustl.edu 37 18 14184381 14184381 + RNA DEL T T - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 18 14184381 14184381 T 0 DEL ANKRD20A5P ENST00000581935 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 8 0 0.00 4 2 33.33 ARL14EP 0 genome.wustl.edu 37 11 30358340 30358340 + Nonstop_Mutation SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 30358340 30358340 T A SNP ARL14EP ENST00000282032 human ensembl 74_37 +1 known nonstop c.781 p.*261K 0.924 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 28 0 0.00 17 13 43.33 ARMC4 0 genome.wustl.edu 37 10 28196695 28196695 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 10 28196695 28196695 C T SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.2507 p.R836H 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 14 0 0.00 23 18 43.90 ATAD3B 0 genome.wustl.edu 37 1 1412670 1412670 + Silent SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 1412670 1412670 C T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known silent c.222 p.A74 0.892 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 tier1 - - 76 0 0.00 25 28 52.83 B3GALT2 0 genome.wustl.edu 37 1 193149736 193149736 + Missense_Mutation SNP A A T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 193149736 193149736 A T SNP B3GALT2 ENST00000367434 human ensembl 74_37 -1 known missense c.957 p.F319L 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT2 HGNC ENSG00000162630 tier1 - - 49 0 0.00 48 28 36.84 BEND7 0 genome.wustl.edu 37 10 13485245 13485245 + RNA SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 10 13485245 13485245 C A SNP BEND7 ENST00000480703 human ensembl 74_37 -1 known rna NULL NULL 0.397 - - - no_errors BEND7 HGNC ENSG00000165626 tier1 - - 46 0 0.00 39 7 15.22 BOD1L2 0 genome.wustl.edu 37 18 54815025 54815025 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 18 54815025 54815025 G T SNP BOD1L2 ENST00000585477 human ensembl 74_37 +1 known missense c.482 p.G161V 0.000 NULL NULL - no_errors BOD1L2 HGNC ENSG00000228075 34 0 0.00 31 3 8.82 BTN2A2 0 genome.wustl.edu 37 6 26390424 26390424 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 26390424 26390424 G A SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.916 p.E306K 0.488 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 28 0 0.00 18 5 21.74 C12orf56 0 genome.wustl.edu 37 12 64712546 64712546 + Missense_Mutation SNP A A T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 64712546 64712546 A T SNP C12orf56 ENST00000543942 human ensembl 74_37 -1 putative missense c.703 p.S235T 0.101 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 63 0 0.00 83 6 6.74 CASD1 0 genome.wustl.edu 37 7 94174972 94174972 + Missense_Mutation SNP C C G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 94174972 94174972 C G SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known missense c.1592 p.T531S 0.984 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 tier1 - - 42 0 0.00 64 17 20.99 CCDC39 0 genome.wustl.edu 37 3 180369978 180369978 + Missense_Mutation SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 3 180369978 180369978 T A SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.1007 p.K336M 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 42 0 0.00 64 6 8.57 CCDC88A 0 genome.wustl.edu 37 2 55563852 55563852 + Missense_Mutation SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 55563852 55563852 T A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.1621 p.T541S 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 tier1 - - 28 0 0.00 27 16 37.21 CCDC88B 0 genome.wustl.edu 37 11 64109782 64109782 + Missense_Mutation SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 64109782 64109782 C A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.838 p.L280M 0.786 pfam_Hook-related_fam pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 36 0 0.00 35 4 10.26 CCT7 0 genome.wustl.edu 37 2 73471716 73471716 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 73471716 73471716 G T SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known missense c.491 p.S164I 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 tier1 - - 39 0 0.00 44 22 33.33 CELSR2 0 genome.wustl.edu 37 1 109811375 109811375 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 109811375 109811375 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.6491 p.T2164M 1.000 pfam_DUF3497 pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 tier1 - - 68 0 0.00 32 31 49.21 CREBBP 0 genome.wustl.edu 37 16 3807902 3807902 + Nonsense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 16 3807902 3807902 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known nonsense c.3517 p.R1173* 0.997 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 11 0 0.00 19 6 24.00 CROCC 0 genome.wustl.edu 37 1 17280821 17280821 + Missense_Mutation SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 17280821 17280821 G C SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.3290 p.R1097P 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 23 0 0.00 22 3 12.00 CTNND2 0 genome.wustl.edu 37 5 11082930 11082930 + Missense_Mutation SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 11082930 11082930 C A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.2666 p.R889L 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 23 0 0.00 28 11 28.21 CUL3 0 genome.wustl.edu 37 2 225422486 225422486 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 225422486 225422486 G A SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.154 p.L52F 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 tier1 - - 49 0 0.00 21 20 48.78 DAGLA 0 genome.wustl.edu 37 11 61502404 61502404 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 61502404 61502404 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1058 p.A353V 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 62 0 0.00 57 18 24.00 DEPDC5 0 genome.wustl.edu 37 22 32239099 32239099 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 22 32239099 32239099 G T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2534 p.R845L 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 53 0 0.00 48 3 5.88 DIO2 0 genome.wustl.edu 37 14 80677773 80677773 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 14 80677773 80677773 G T SNP DIO2 ENST00000422005 human ensembl 74_37 -1 known missense c.43 p.L15M 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 tier1 - - 24 0 0.00 34 15 30.61 DLGAP3 0 genome.wustl.edu 37 1 35334318 35334318 + Nonsense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 35334318 35334318 G T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known nonsense c.2373 p.C791* 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 31 0 0.00 7 4 36.36 DNAJC7 0 genome.wustl.edu 37 17 40149135 40149135 + Silent SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 17 40149135 40149135 G T SNP DNAJC7 ENST00000457167 human ensembl 74_37 -1 known silent c.289 p.R97 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 46 0 0.00 48 4 7.69 DNM1P47 0 genome.wustl.edu 37 15 102304740 102304740 + RNA SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 15 102304740 102304740 G C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 22 0 0.00 23 9 28.12 DYNC1H1 0 genome.wustl.edu 37 14 102460527 102460527 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 14 102460527 102460527 G T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.3022 p.V1008L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 62 0 0.00 39 29 42.65 ENSG00000225946 0 genome.wustl.edu 37 7 100608573 100608573 + RNA SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 100608573 100608573 G C SNP ENSG00000225946 ENST00000420080 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-395B7.2 Clone_based_vega_gene ENSG00000225946 tier1 rs10251415 - 17 0 0.00 20 11 35.48 ENSG00000232719 0 genome.wustl.edu 37 2 201967217 201967218 + RNA DEL AG AG - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 201967217 201967218 AG 0 DEL ENSG00000232719 ENST00000448256 human ensembl 74_37 +1 known rna NULL NULL 0.405:0.966 - - - no_errors RP11-13J8.1 Clone_based_vega_gene ENSG00000232719 8 0 0.00 4 2 33.33 ENSG00000250274 0 genome.wustl.edu 37 5 169736910 169736910 + RNA SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 169736910 169736910 C A SNP ENSG00000250274 ENST00000511921 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors CTB-114C7.4 Clone_based_vega_gene ENSG00000250274 tier1 - - 12 0 0.00 6 10 62.50 ENSG00000269490 0 genome.wustl.edu 37 6 33663453 33663453 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 33663453 33663453 G A SNP ENSG00000269490 ENST00000594414 human ensembl 74_37 -1 novel missense c.22 p.P8S 0.003 NULL NULL - no_errors SBP1 Uniprot_gn ENSG00000269490 22 0 0.00 23 3 11.54 F9 0 genome.wustl.edu 37 X 138643810 138643810 + Silent SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 X 138643810 138643810 C T SNP F9 ENST00000218099 human ensembl 74_37 +1 known silent c.966 p.D322 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 tier1 - - 32 0 0.00 10 48 82.76 FAM230B 0 genome.wustl.edu 37 22 21538350 21538350 + RNA SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 22 21538350 21538350 G C SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 39 0 0.00 23 4 14.81 FLT1 0 genome.wustl.edu 37 13 28959159 28959159 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 13 28959159 28959159 G T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1979 p.A660E 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 58 0 0.00 57 5 8.06 GANAB 0 genome.wustl.edu 37 11 62397743 62397743 + Missense_Mutation SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 62397743 62397743 C A SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.1585 p.A529S 0.998 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 tier1 - - 41 0 0.00 63 13 17.11 GPR98 0 genome.wustl.edu 37 5 89981640 89981640 + Silent SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 89981640 89981640 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.6318 p.A2106 0.815 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 29 0 0.00 20 2 9.09 GRID2IP 0 genome.wustl.edu 37 7 6541473 6541473 + Missense_Mutation SNP A A G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 6541473 6541473 A G SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative missense c.3338 p.I1113T 0.986 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 39 0 0.00 39 4 9.30 GRIK4 0 genome.wustl.edu 37 11 120831733 120831733 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 120831733 120831733 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1990 p.A664T 0.628 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 GRIK4 HGNC ENSG00000149403 tier1 rs139636929 - 53 0 0.00 26 10 27.78 GTPBP2 0 genome.wustl.edu 37 6 43588707 43588707 + RNA SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 43588707 43588707 G A SNP GTPBP2 ENST00000476510 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors GTPBP2 HGNC ENSG00000172432 tier1 - - 22 0 0.00 17 11 39.29 GUSBP2 0 genome.wustl.edu 37 6 26856948 26856948 + RNA SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 26856948 26856948 C A SNP GUSBP2 ENST00000463434 human ensembl 74_37 -1 known rna NULL NULL 0.501 - - - no_errors GUSBP2 HGNC ENSG00000241549 tier1 - - 106 0 0.00 102 31 23.31 HDAC4 0 genome.wustl.edu 37 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 240016733 240016733 G T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2238 p.F746L 0.191 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 tier1 - - 45 0 0.00 54 6 9.84 HID1 0 genome.wustl.edu 37 17 72958339 72958339 + Missense_Mutation SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 17 72958339 72958339 C A SNP HID1 ENST00000425042 human ensembl 74_37 -1 known missense c.601 p.D201Y 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 tier1 - - 33 0 0.00 12 19 61.29 HMGN5 0 genome.wustl.edu 37 X 80371790 80371790 + Silent SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 X 80371790 80371790 G T SNP HMGN5 ENST00000358130 human ensembl 74_37 -1 known silent c.180 p.A60 0.020 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 tier1 - - 22 0 0.00 24 5 17.24 IL12RB2 0 genome.wustl.edu 37 1 67855810 67855810 + Frame_Shift_Del DEL A A - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 67855810 67855810 A - DEL IL12RB2 ENST00000262345 human ensembl 74_37 +1 known frame_shift_del c.2045 p.E682fs 1.000 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 39 0 0.00 43 5 10.42 KCTD21 0 genome.wustl.edu 37 11 77885236 77885236 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 77885236 77885236 G A SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.365 p.T122M 0.446 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 tier1 - - 28 0 0.00 36 9 20.00 KIF3A 0 genome.wustl.edu 37 5 132035914 132035914 + Missense_Mutation SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 132035914 132035914 C A SNP KIF3A ENST00000378735 human ensembl 74_37 -1 known missense c.1929 p.E643D 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 tier1 - - 11 0 0.00 11 9 45.00 KPNB1 0 genome.wustl.edu 37 17 45750492 45750492 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 17 45750492 45750492 G T SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.1656 p.L552F 0.952 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 tier1 - - 52 0 0.00 55 4 6.78 LAMA2 0 genome.wustl.edu 37 6 129785573 129785573 + Silent SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 129785573 129785573 G T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.7131 p.L2377 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 44 0 0.00 54 4 6.90 LINC00623 0 genome.wustl.edu 37 1 149581062 149581063 + RNA INS - - A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 149581062 149581063 0 A INS LINC00623 ENST00000598569 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-353N4.6 Clone_based_vega_gene ENSG00000269501 29 0 0.00 37 6 13.95 LOC100505502 0 genome.wustl.edu 37 10 31652033 31652033 + RNA SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 10 31652033 31652033 T A SNP LOC100505502 ENST00000359888 human ensembl 74_37 -1 known rna NULL NULL 0.109 - - - no_errors RP11-192P3.5 Clone_based_vega_gene ENSG00000196960 tier1 - - 77 0 0.00 85 16 15.69 LOC643733 0 genome.wustl.edu 37 11 104779414 104779415 + RNA INS - - CA TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 104779414 104779415 - CA INS LOC643733 ENST00000530264 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-693N9.2 Clone_based_vega_gene ENSG00000235505 tier1 10 0 0.00 21 3 12.50 LOC654342 0 genome.wustl.edu 37 2 91824935 91824935 + RNA SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 91824935 91824935 C A SNP LOC654342 ENST00000608018 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC027612.6 Clone_based_vega_gene ENSG00000143429 tier1 - - 104 0 0.00 145 17 10.49 LPAL2 0 genome.wustl.edu 37 6 160887988 160887988 + RNA SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 160887988 160887988 C T SNP LPAL2 ENST00000435757 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 78 0 0.00 63 12 15.79 LRGUK 0 genome.wustl.edu 37 7 133833054 133833054 + Missense_Mutation SNP A A C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 133833054 133833054 A C SNP LRGUK ENST00000285928 human ensembl 74_37 +1 known missense c.652 p.T218P 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like - no_errors LRGUK HGNC ENSG00000155530 tier1 - - 17 0 0.00 12 6 33.33 LRIT3 0 genome.wustl.edu 37 4 110789009 110789009 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 4 110789009 110789009 G T SNP LRIT3 ENST00000594814 human ensembl 74_37 +1 known missense c.802 p.G268C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 tier1 - - 32 0 0.00 36 4 10.00 LRP2 0 genome.wustl.edu 37 2 170030640 170030640 + Silent SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 170030640 170030640 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.10803 p.C3601 0.975 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 44 0 0.00 68 27 28.42 LRRC7 0 genome.wustl.edu 37 1 70504428 70504428 + Missense_Mutation SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 70504428 70504428 T A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.2807 p.M936K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 20 0 0.00 21 4 16.00 LRTM2 0 genome.wustl.edu 37 12 1944589 1944590 + RNA DEL AC AC - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 1944589 1944590 AC - DEL LRTM2 ENST00000543730 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.002 - - - no_errors LRTM2 HGNC ENSG00000166159 tier1 8 0 0.00 4 2 33.33 LYPLA1 0 genome.wustl.edu 37 8 54965225 54965225 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 8 54965225 54965225 G A SNP LYPLA1 ENST00000316963 human ensembl 74_37 -1 known missense c.452 p.S151F 0.998 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3 - no_errors LYPLA1 HGNC ENSG00000120992 tier1 - - 16 0 0.00 23 9 28.12 LZTR1 0 genome.wustl.edu 37 22 21348483 21348483 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 22 21348483 21348483 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1540 p.R514W 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 58 0 0.00 30 12 28.57 MAP6 0 genome.wustl.edu 37 11 75299016 75299016 + Silent SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 75299016 75299016 C T SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known silent c.1530 p.T510 0.007 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 tier1 - - 86 0 0.00 139 12 7.95 MARK4 0 genome.wustl.edu 37 19 45801428 45801428 + Missense_Mutation SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 19 45801428 45801428 G C SNP MARK4 ENST00000300843 human ensembl 74_37 +1 known missense c.1905 p.Q635H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK4 HGNC ENSG00000007047 tier1 - - 67 0 0.00 45 17 27.42 MBNL1 0 genome.wustl.edu 37 3 152016909 152016909 + RNA SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 3 152016909 152016909 C T SNP MBNL1 ENST00000466565 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors MBNL1 HGNC ENSG00000152601 tier1 - - 21 0 0.00 54 8 12.90 MDGA2 0 genome.wustl.edu 37 14 47351393 47351393 + Missense_Mutation SNP A A T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 14 47351393 47351393 A T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2270 p.I757N 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 41 0 0.00 39 17 30.36 MGARP 0 genome.wustl.edu 37 4 140188162 140188162 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 4 140188162 140188162 G T SNP MGARP ENST00000398955 human ensembl 74_37 -1 known missense c.314 p.A105E 0.010 NULL NULL - no_errors MGARP HGNC ENSG00000137463 tier1 - - 74 0 0.00 68 4 5.56 MICU2 0 genome.wustl.edu 37 13 22113447 22113447 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 13 22113447 22113447 C T SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.460 p.D154N 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 tier1 - - 26 0 0.00 19 6 24.00 MORC2 0 genome.wustl.edu 37 22 31324086 31324086 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 22 31324086 31324086 C T SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known missense c.2950 p.E984K 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 tier1 - - 77 0 0.00 54 17 23.94 MOV10 0 genome.wustl.edu 37 1 113237086 113237086 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 113237086 113237086 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.1307 p.R436H 0.969 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 tier1 - - 66 0 0.00 21 31 59.62 MTMR14 0 genome.wustl.edu 37 3 9731787 9731787 + Missense_Mutation SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 3 9731787 9731787 T A SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.1573 p.F525I 0.995 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 tier1 - - 41 0 0.00 45 4 8.16 MUC4 0 genome.wustl.edu 37 3 195508324 195508324 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 3 195508324 195508324 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10127 p.R3376H 0.006 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs425562 - 258 0 0.00 497 28 5.29 MYBPC1 0 genome.wustl.edu 37 12 102021559 102021559 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 102021559 102021559 G T SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.155 p.R52L 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 tier1 - - 47 0 0.00 61 5 7.58 MYBPC2 0 genome.wustl.edu 37 19 50951588 50951588 + Nonsense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 19 50951588 50951588 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known nonsense c.1413 p.W471* 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 tier1 - - 40 0 0.00 57 5 8.06 NFE2L3 0 genome.wustl.edu 37 7 26224292 26224292 + Missense_Mutation SNP A A G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 26224292 26224292 A G SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.974 p.N325S 0.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 tier1 rs143091809 - 39 0 0.00 49 6 10.91 NFE2L3 0 genome.wustl.edu 37 7 26224313 26224313 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 26224313 26224313 C T SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.995 p.T332I 0.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 tier1 rs147199325 - 30 0 0.00 54 8 12.90 NFE2L3 0 genome.wustl.edu 37 7 26224323 26224323 + Silent SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 26224323 26224323 T C SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known silent c.1005 p.T335 0.002 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 tier1 rs113074870 - 28 0 0.00 49 10 16.95 NOS3 0 genome.wustl.edu 37 7 150695460 150695460 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 150695460 150695460 G A SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.598 p.D200N 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 tier1 - - 32 0 0.00 23 16 41.03 NPIPB11 0 genome.wustl.edu 37 16 29394470 29394470 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 16 29394470 29394470 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.1783 p.R595W 0.042 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 47 0 0.00 63 34 35.05 NSMAF 0 genome.wustl.edu 37 8 59510074 59510074 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 8 59510074 59510074 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.1757 p.T586M 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 tier1 - - 40 0 0.00 33 26 44.07 OGDH 0 genome.wustl.edu 37 7 44736644 44736644 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 44736644 44736644 G A SNP OGDH ENST00000222673 human ensembl 74_37 +1 known missense c.2032 p.V678M 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 tier1 rs139641350 - 59 0 0.00 63 30 32.26 OLFML2B 0 genome.wustl.edu 37 1 161954722 161954722 + Missense_Mutation SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 161954722 161954722 T C SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1523 p.N508S 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 79 0 0.00 62 30 32.61 OR10A6 0 genome.wustl.edu 37 11 7949463 7949463 + Silent SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 7949463 7949463 G C SNP OR10A6 ENST00000309838 human ensembl 74_37 -1 known silent c.747 p.T249 0.284 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 OR10A6 HGNC ENSG00000175393 tier1 - - 54 0 0.00 42 12 22.22 OR10Z1 0 genome.wustl.edu 37 1 158576618 158576618 + Silent SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 158576618 158576618 C A SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.390 p.L130 0.925 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 43 0 0.00 50 26 34.21 OR1J1 0 genome.wustl.edu 37 9 125240137 125240137 + Missense_Mutation SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 9 125240137 125240137 C A SNP OR1J1 ENST00000259357 human ensembl 74_37 -1 known missense c.69 p.Q23H 0.070 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J1 HGNC ENSG00000136834 tier1 - - 66 0 0.00 68 32 32.00 OR5AU1 0 genome.wustl.edu 37 14 21623754 21623754 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 14 21623754 21623754 G A SNP OR5AU1 ENST00000304418 human ensembl 74_37 -1 known missense c.431 p.S144F 0.099 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AU1 HGNC ENSG00000169327 33 0 0.00 38 3 7.32 PARP8 0 genome.wustl.edu 37 5 50093011 50093011 + Nonsense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 50093011 50093011 G T SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known nonsense c.1519 p.E507* 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 50 0 0.00 43 4 8.51 PBX3 0 genome.wustl.edu 37 9 128697755 128697755 + Frame_Shift_Del DEL A A - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 9 128697755 128697755 A - DEL PBX3 ENST00000373489 human ensembl 74_37 +1 known frame_shift_del c.712 p.R239fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX3 HGNC ENSG00000167081 tier1 23 0 0.00 29 2 6.45 PDLIM5 0 genome.wustl.edu 37 4 95503830 95503830 + RNA SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 4 95503830 95503830 T C SNP PDLIM5 ENST00000514830 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDLIM5 HGNC ENSG00000163110 tier1 - - 26 0 0.00 18 13 41.94 PIK3C2A 0 genome.wustl.edu 37 11 17190418 17190418 + Nonsense_Mutation SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 17190418 17190418 C A SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known nonsense c.871 p.E291* 0.996 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 34 0 0.00 55 4 6.78 PLTP 0 genome.wustl.edu 37 20 44538215 44538215 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 20 44538215 44538215 G T SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.485 p.S162Y 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 17 0 0.00 16 3 15.79 POP5 0 genome.wustl.edu 37 12 121017030 121017031 + RNA DEL TG TG - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 121017030 121017031 TG - DEL POP5 ENST00000542776 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors POP5 HGNC ENSG00000167272 tier1 17 0 0.00 22 5 18.52 PRCP 0 genome.wustl.edu 37 11 82611294 82611294 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 11 82611294 82611294 G A SNP PRCP ENST00000393399 human ensembl 74_37 -1 known missense c.151 p.L51F 0.764 NULL pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 tier1 - - 69 0 0.00 131 23 14.94 PRKCH 0 genome.wustl.edu 37 14 61788845 61788845 + Missense_Mutation SNP A A G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 14 61788845 61788845 A G SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known missense c.26 p.N9S 1.000 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 tier1 - - 26 0 0.00 19 17 47.22 PTPRO 0 genome.wustl.edu 37 12 15710404 15710404 + Silent SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 15710404 15710404 T C SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known silent c.2574 p.G858 0.983 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 42 0 0.00 48 22 31.43 QSOX1 0 genome.wustl.edu 37 1 180165983 180165983 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 180165983 180165983 G T SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.2055 p.Q685H 0.535 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 tier1 - - 90 0 0.00 98 7 6.67 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827753 + Frame_Shift_Del DEL A A - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 9 125827753 125827753 A - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K576fs 0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 17 0 0.00 15 3 16.67 RNY5 0 genome.wustl.edu 37 7 148638612 148638612 + RNA SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 148638612 148638612 T C SNP RNY5 ENST00000516501 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RNY5 HGNC ENSG00000252310 tier1 - - 29 0 0.00 24 13 35.14 RPAP1 0 genome.wustl.edu 37 15 41829177 41829177 + Silent SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 15 41829177 41829177 C T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known silent c.147 p.P49 0.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 20 0 0.00 25 5 16.67 RTN1 0 genome.wustl.edu 37 14 60193708 60193708 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 14 60193708 60193708 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.1694 p.A565V 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 58 0 0.00 41 32 43.84 RUNX1T1 0 genome.wustl.edu 37 8 92972475 92972475 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 8 92972475 92972475 G A SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1843 p.R615C 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 93 0 0.00 84 15 15.15 SCN11A 0 genome.wustl.edu 37 3 38962700 38962700 + Silent SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 3 38962700 38962700 C A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.759 p.L253 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 18 0 0.00 15 4 21.05 SIN3A 0 genome.wustl.edu 37 15 75668064 75668064 + Missense_Mutation SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 15 75668064 75668064 T C SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.3533 p.Y1178C 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 tier1 - - 34 0 0.00 44 8 15.38 SIRT1 0 genome.wustl.edu 37 10 69644841 69644841 + Missense_Mutation SNP A A G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 10 69644841 69644841 A G SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.362 p.Y121C 0.984 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 9 0 0.00 3 3 50.00 SLC6A10P 0 genome.wustl.edu 37 16 32890602 32890602 + RNA SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 16 32890602 32890602 C A SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 109 0 0.00 104 24 18.75 SLCO1B1 0 genome.wustl.edu 37 12 21349897 21349897 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 21349897 21349897 C T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.745 p.P249S 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 78 0 0.00 62 42 40.38 SMG1 0 genome.wustl.edu 37 16 18840639 18840639 + Missense_Mutation SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 16 18840639 18840639 T A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.9572 p.Q3191L 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 SMG1 HGNC ENSG00000157106 14 0 0.00 36 3 7.69 SMYD4 0 genome.wustl.edu 37 17 1703986 1703986 + Silent SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 17 1703986 1703986 G T SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.702 p.S234 0.667 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 34 0 0.00 25 2 7.41 SP140L 0 genome.wustl.edu 37 2 231223688 231223688 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 231223688 231223688 G A SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.280 p.D94N 0.460 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 tier1 - - 40 0 0.00 15 11 42.31 SPAM1 0 genome.wustl.edu 37 7 123594116 123594116 + Silent SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 7 123594116 123594116 C T SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known silent c.492 p.Y164 0.879 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 tier1 - - 14 0 0.00 13 9 40.91 SPATA16 0 genome.wustl.edu 37 3 172643275 172643275 + Silent SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 3 172643275 172643275 T C SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known silent c.1089 p.Q363 0.958 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 tier1 - - 55 0 0.00 81 25 23.58 SPATA31A6 0 genome.wustl.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 9 43627428 43627428 G A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1259 p.P420L 1.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 47 0 0.00 19 3 13.64 SPTBN1 0 genome.wustl.edu 37 2 54858121 54858121 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 54858121 54858121 G T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.2937 p.E979D 0.998 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 21 0 0.00 34 2 5.56 SRCAP 0 genome.wustl.edu 37 16 30745119 30745119 + Missense_Mutation SNP G G C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 16 30745119 30745119 G C SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.6494 p.R2165T 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 33 0 0.00 32 22 40.74 SSTR2 0 genome.wustl.edu 37 17 71165533 71165533 + Silent SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 17 71165533 71165533 G T SNP SSTR2 ENST00000357585 human ensembl 74_37 +1 known silent c.75 p.V25 0.008 prints_Somatstn_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_2,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5 - no_errors SSTR2 HGNC ENSG00000180616 tier1 - - 45 0 0.00 50 4 7.41 SUMO3 0 genome.wustl.edu 37 21 46226696 46226696 + RNA SNP T T G TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 21 46226696 46226696 T G SNP SUMO3 ENST00000479153 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SUMO3 HGNC ENSG00000184900 tier1 - - 14 0 0.00 7 7 50.00 SYTL4 0 genome.wustl.edu 37 X 99956215 99956215 + Splice_Site SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 X 99956215 99956215 C T SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known splice_site c.436+1 e3+1 1.000 - - - no_errors SYTL4 HGNC ENSG00000102362 17 0 0.00 29 4 12.12 TAS2R43 0 genome.wustl.edu 37 12 11244634 11244634 + Silent SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 11244634 11244634 G A SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known silent c.195 p.N65 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 tier1 rs200893955 - 27 0 0.00 50 8 13.79 TAS2R43 0 genome.wustl.edu 37 12 11244646 11244646 + Silent SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 11244646 11244646 T C SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known silent c.183 p.V61 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 20 0 0.00 53 8 13.11 TBC1D22A 0 genome.wustl.edu 37 22 47308003 47308003 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 22 47308003 47308003 C T SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.934 p.R312C 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 29 0 0.00 37 3 7.50 TEX10 0 genome.wustl.edu 37 9 103065971 103065971 + Silent SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 9 103065971 103065971 G A SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known silent c.2619 p.L873 0.896 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 tier1 - - 19 0 0.00 29 8 21.62 TLN1 0 genome.wustl.edu 37 9 35703897 35703897 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 9 35703897 35703897 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.6232 p.V2078M 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 33 0 0.00 38 18 32.14 TMEM181 0 genome.wustl.edu 37 6 159005076 159005076 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 159005076 159005076 G A SNP TMEM181 ENST00000367090 human ensembl 74_37 +1 known missense c.670 p.E224K 1.000 NULL NULL - no_errors TMEM181 HGNC ENSG00000146433 tier1 - - 31 0 0.00 14 4 22.22 TMEM37 0 genome.wustl.edu 37 2 120194908 120194908 + Silent SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 120194908 120194908 C T SNP TMEM37 ENST00000306406 human ensembl 74_37 +1 known silent c.465 p.L155 0.553 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 tier1 - - 47 0 0.00 59 24 28.92 TNFRSF1A 0 genome.wustl.edu 37 12 6440106 6440106 + RNA SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 12 6440106 6440106 C T SNP TNFRSF1A ENST00000535038 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TNFRSF1A HGNC ENSG00000067182 tier1 rs200381667 - 10 0 0.00 21 5 19.23 TP53 0 genome.wustl.edu 37 17 7579321 7579322 + Frame_Shift_Del DEL CA CA - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 17 7579321 7579322 CA - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.366_365 p.V122fs 0.949:0.997 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 tier1 63 0 0.00 21 29 58.00 TP53BP2 0 genome.wustl.edu 37 1 223983606 223983606 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 1 223983606 223983606 G T SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.2635 p.P879T 1.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 tier1 - - 41 0 0.00 71 15 17.44 TPTE 0 genome.wustl.edu 37 21 10933879 10933879 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 21 10933879 10933879 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1000 p.V334I 0.995 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 rs149228869 - 204 0 0.00 146 39 21.08 TRERF1 0 genome.wustl.edu 37 6 42236785 42236785 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 6 42236785 42236785 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.544 p.R182C 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 rs201248674 - 9 0 0.00 10 14 58.33 TRIM23 0 genome.wustl.edu 37 5 64905171 64905171 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 64905171 64905171 G A SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.943 p.R315C 1.000 smart_Bbox_C pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 tier1 - - 29 0 0.00 11 9 45.00 TTN 0 genome.wustl.edu 37 2 179606443 179606443 + Silent SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 179606443 179606443 C T SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.11004 p.L3668 0.984 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 27 0 0.00 48 5 9.43 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 tier1 - - 45 0 0.00 47 5 9.62 U2AF2 0 genome.wustl.edu 37 19 56171899 56171901 + In_Frame_Del DEL AGA AGA - TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 19 56171899 56171901 AGA - DEL U2AF2 ENST00000308924 human ensembl 74_37 +1 known in_frame_del c.248_250 p.K87in_frame_del 1.000:1.000:1.000 tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 tier1 20 0 0.00 28 2 6.67 UNC80 0 genome.wustl.edu 37 2 210806065 210806065 + Missense_Mutation SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 2 210806065 210806065 T C SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.6569 p.L2190P 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 68 0 0.00 75 10 11.76 VPREB3 0 genome.wustl.edu 37 22 24095297 24095297 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 22 24095297 24095297 G T SNP VPREB3 ENST00000248948 human ensembl 74_37 -1 known missense c.138 p.H46Q 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VPREB3 HGNC ENSG00000128218 23 0 0.00 28 2 6.67 VPS4B 0 genome.wustl.edu 37 18 61077552 61077552 + Silent SNP T T C TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 18 61077552 61077552 T C SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known silent c.267 p.E89 0.999 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 tier1 - - 37 0 0.00 33 29 46.77 ZDHHC11 0 genome.wustl.edu 37 5 796437 796437 + RNA SNP T T A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 796437 796437 T A SNP ZDHHC11 ENST00000503758 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC11 HGNC ENSG00000188818 tier1 rs140929317 - 20 0 0.00 35 8 18.60 ZFHX4 0 genome.wustl.edu 37 8 77767606 77767606 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 8 77767606 77767606 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8449 p.D2817Y 1.000 NULL 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 tier1 - - 23 0 0.00 30 4 11.76 ZFHX4 0 genome.wustl.edu 37 8 77767663 77767663 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 8 77767663 77767663 G T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8506 p.A2836S 0.000 NULL 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 21 0 0.00 35 3 7.89 ZNF540 0 genome.wustl.edu 37 19 38092021 38092021 + RNA SNP C C A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 19 38092021 38092021 C A SNP ZNF540 ENST00000587220 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF540 HGNC ENSG00000171817 tier1 - - 23 0 0.00 18 6 25.00 ZNF565 0 genome.wustl.edu 37 19 36674504 36674504 + Missense_Mutation SNP C C T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 19 36674504 36674504 C T SNP ZNF565 ENST00000304116 human ensembl 74_37 -1 known missense c.364 p.E122K 0.025 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF565 HGNC ENSG00000196357 tier1 - - 21 0 0.00 19 11 36.67 ZNF608 0 genome.wustl.edu 37 5 123983771 123983771 + Missense_Mutation SNP G G T TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7fef6fc4-1732-4cb8-958c-1bc52248920b 14e2990d-4d88-4fde-ba19-cfec88030c98 5 123983771 123983771 G T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.2306 p.P769H 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 tier1 - - 43 0 0.00 35 4 10.26