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 AATK 0 genome.wustl.edu 37 17 79094681 79094681 + Nonsense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 17 79094681 79094681 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known nonsense c.3055 p.R1019* 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 tier1 - - 41 0 0.00 18 24 57.14 ABCC11 0 genome.wustl.edu 37 16 48209220 48209220 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 48209220 48209220 G T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.3647 p.S1216Y 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 38 0 0.00 26 31 53.45 ABCC9 0 genome.wustl.edu 37 12 22005402 22005402 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 22005402 22005402 T C SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2543 p.D848G 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 42 0 0.00 46 10 17.86 ACAP2 0 genome.wustl.edu 37 3 195027311 195027311 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 195027311 195027311 G A SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.1045 p.R349C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 tier1 - - 40 0 0.00 47 11 18.97 ACSM1 0 genome.wustl.edu 37 16 20702457 20702457 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 20702457 20702457 G A SNP ACSM1 ENST00000307493 human ensembl 74_37 -1 known silent c.54 p.H18 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 tier1 - - 117 0 0.00 56 33 37.08 ADAMTSL1 0 genome.wustl.edu 37 9 18795491 18795491 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 9 18795491 18795491 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.3774 p.Y1258 0.945 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 43 0 0.00 40 3 6.98 ADCY8 0 genome.wustl.edu 37 8 132052018 132052018 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 132052018 132052018 G T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.562 p.L188M 0.956 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 16 0 0.00 22 10 31.25 AFF2 0 genome.wustl.edu 37 X 148035142 148035142 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e X 148035142 148035142 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1430 p.A477V 0.001 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 35 0 0.00 36 4 10.00 AHDC1 0 genome.wustl.edu 37 1 27875978 27875978 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 27875978 27875978 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.2649 p.R883 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 42 0 0.00 20 23 53.49 ALKBH3 0 genome.wustl.edu 37 11 43904237 43904237 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 43904237 43904237 G A SNP ALKBH3 ENST00000302708 human ensembl 74_37 +1 known missense c.35 p.G12E 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 tier1 - - 26 0 0.00 3 12 80.00 ALMS1 0 genome.wustl.edu 37 2 73613031 73613032 + In_Frame_Ins INS - - GGA TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 73613031 73613032 - GGA INS ALMS1 ENST00000264448 human ensembl 74_37 +1 known in_frame_ins c.35_36 p.16in_frame_insE 0.999:0.989 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 20 0 0.00 21 6 22.22 ALMS1 0 genome.wustl.edu 37 2 73827964 73827964 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 73827964 73827964 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.11825 p.P3942L 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 39 0 0.00 27 9 25.00 ALS2CR11 0 genome.wustl.edu 37 2 202358876 202358877 + Frame_Shift_Ins INS - - T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 202358876 202358877 - T INS ALS2CR11 ENST00000439140 human ensembl 74_37 -1 novel frame_shift_ins c.2188_2187 p.Q729fs 0.578:0.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 48 0 0.00 32 2 5.88 ANKRD30B 0 genome.wustl.edu 37 18 14778005 14778005 + Missense_Mutation SNP C C G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 18 14778005 14778005 C G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.1351 p.Q451E 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 17 0 0.00 10 12 54.55 ANXA2R 0 genome.wustl.edu 37 5 43039891 43039891 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 5 43039891 43039891 C T SNP ANXA2R ENST00000314890 human ensembl 74_37 -1 known silent c.258 p.A86 0.000 NULL NULL - no_errors ANXA2R HGNC ENSG00000177721 tier1 - - 61 0 0.00 41 22 34.92 AP3M2 0 genome.wustl.edu 37 8 42025256 42025256 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 42025256 42025256 G T SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.1084 p.A362S 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 20 0 0.00 65 4 5.80 APOBR 0 genome.wustl.edu 37 16 28507417 28507417 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 28507417 28507417 A G SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1055 p.E352G 0.010 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 rs365499 - 27 0 0.00 15 6 28.57 ATP2C1 0 genome.wustl.edu 37 3 130716559 130716559 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 130716559 130716559 A G SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.2455 p.I819V 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 tier1 - - 82 0 0.00 47 44 48.35 BBS5 0 genome.wustl.edu 37 2 170350315 170350315 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 170350315 170350315 G T SNP BBS5 ENST00000554017 human ensembl 74_37 +1 known missense c.587 p.S196I 1.000 pfam_BBL5,smart_DM16_repeat pfam_BBL5,pfam_Kelch_1,smart_DM16_repeat,smart_Kelch_1 - no_errors BBS5 HGNC ENSG00000163093 tier1 - - 65 0 0.00 43 5 10.42 C10orf112 0 genome.wustl.edu 37 10 19493307 19493307 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 10 19493307 19493307 C T SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known silent c.63 p.F21 0.998 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 50 0 0.00 36 13 26.53 C14orf37 0 genome.wustl.edu 37 14 58604975 58604975 + Missense_Mutation SNP C C A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 58604975 58604975 C A SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known missense c.1102 p.G368W 0.068 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 tier1 - - 41 0 0.00 30 24 44.44 C5orf42 0 genome.wustl.edu 37 5 37139474 37139475 + Splice_Site INS - - A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 5 37139474 37139475 - A INS C5orf42 ENST00000425232 human ensembl 74_37 -1 known splice_site_ins c.8471-3_8471-2 e43-2 0.993:0.043 - - - no_errors C5orf42 HGNC ENSG00000197603 tier1 45 0 0.00 32 4 11.11 C6orf201 0 genome.wustl.edu 37 6 4099372 4099372 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 6 4099372 4099372 A G SNP C6orf201 ENST00000333388 human ensembl 74_37 +1 known missense c.233 p.K78R 0.255 NULL NULL - no_errors C6orf201 HGNC ENSG00000185689 tier1 - - 55 0 0.00 10 26 72.22 CACNA1H 0 genome.wustl.edu 37 16 1261734 1261734 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 1261734 1261734 G T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.4495 p.V1499L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 32 0 0.00 21 2 8.70 CACNG5 0 genome.wustl.edu 37 17 64876781 64876781 + Missense_Mutation SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 17 64876781 64876781 G C SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.391 p.A131P 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 - - 63 0 0.00 51 16 23.88 CARD11 0 genome.wustl.edu 37 7 2963891 2963891 + Missense_Mutation SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 2963891 2963891 A T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.1916 p.M639K 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 - - 50 0 0.00 52 8 13.33 CASP8 0 genome.wustl.edu 37 2 202151220 202151220 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 202151220 202151220 A G SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.1520 p.Y507C 0.004 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 tier1 - - 36 0 0.00 15 29 65.91 CASZ1 0 genome.wustl.edu 37 1 10718607 10718607 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 10718607 10718607 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1367 p.A456V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 72 0 0.00 58 5 7.81 CBL 0 genome.wustl.edu 37 11 119077233 119077233 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 119077233 119077233 C T SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.106 p.H36Y 0.999 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 tier1 - - 22 0 0.00 7 19 73.08 CCDC171 0 genome.wustl.edu 37 9 15744551 15744551 + Nonsense_Mutation SNP C C G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 9 15744551 15744551 C G SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known nonsense c.2330 p.S777* 0.997 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 - - 33 0 0.00 14 7 33.33 CCDC27 0 genome.wustl.edu 37 1 3677911 3677911 + Nonsense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 3677911 3677911 G T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known nonsense c.778 p.E260* 0.541 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 tier1 - - 31 0 0.00 12 11 47.83 CCDC7 0 genome.wustl.edu 37 10 32807402 32807402 + Frame_Shift_Del DEL A A - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 10 32807402 32807402 A - DEL CCDC7 ENST00000277657 human ensembl 74_37 +1 known frame_shift_del c.962 p.N322fs 1.000 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 tier1 24 0 0.00 27 2 6.90 CD36 0 genome.wustl.edu 37 7 80302674 80302674 + Silent SNP A A C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 80302674 80302674 A C SNP CD36 ENST00000309881 human ensembl 74_37 +1 known silent c.1203 p.V401 0.106 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 tier1 - - 25 0 0.00 21 5 19.23 CENPC 0 genome.wustl.edu 37 4 68385049 68385049 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 68385049 68385049 G T SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.503 p.S168Y 0.013 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 tier1 - - 47 0 0.00 60 4 6.25 CENPE 0 genome.wustl.edu 37 4 104116291 104116291 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 104116291 104116291 T C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.457 p.I153V 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 25 0 0.00 13 29 69.05 CEP350 0 genome.wustl.edu 37 1 180064685 180064685 + Nonsense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 180064685 180064685 C T SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known nonsense c.8539 p.Q2847* 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 - - 18 0 0.00 16 9 36.00 CISD2 0 genome.wustl.edu 37 4 103806549 103806549 + Missense_Mutation SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 103806549 103806549 A T SNP CISD2 ENST00000273986 human ensembl 74_37 +1 known missense c.280 p.T94S 0.121 pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam pfam_FeS-contain_mitoNEET_N,pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam - no_errors CISD2 HGNC ENSG00000145354 tier1 - - 50 0 0.00 35 17 32.69 CNGB3 0 genome.wustl.edu 37 8 87641177 87641177 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 87641177 87641177 C T SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1450 p.E484K 1.000 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 84 0 0.00 80 15 15.79 CNN2 0 genome.wustl.edu 37 19 1036246 1036246 + Splice_Site SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 1036246 1036246 G A SNP CNN2 ENST00000263097 human ensembl 74_37 +1 known splice_site c.507+1 e5+1 1.000 - - - no_errors CNN2 HGNC ENSG00000064666 tier1 - - 49 0 0.00 32 5 13.51 COL4A6 0 genome.wustl.edu 37 X 107431880 107431880 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e X 107431880 107431880 C T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.1457 p.G486D 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 28 0 0.00 10 10 50.00 CREBBP 0 genome.wustl.edu 37 16 3781439 3781439 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 3781439 3781439 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.4926 p.V1642 0.665 NULL 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 14 0 0.00 14 6 30.00 CUBN 0 genome.wustl.edu 37 10 16949507 16949507 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 10 16949507 16949507 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.7705 p.V2569M 1.000 superfamily_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 50 0 0.00 53 18 25.35 DAB2IP 0 genome.wustl.edu 37 9 124535315 124535315 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 9 124535315 124535315 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2508 p.A836 0.476 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 - - 14 0 0.00 12 7 36.84 DACH1 0 genome.wustl.edu 37 13 72063217 72063217 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 13 72063217 72063217 T C SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.1796 p.H599R 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 tier1 - - 46 0 0.00 45 6 11.76 DDX11L9 0 genome.wustl.edu 37 15 102516816 102516816 + RNA SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 15 102516816 102516816 G T SNP DDX11L9 ENST00000559159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DDX11L9 HGNC ENSG00000248472 tier1 - - 15 0 0.00 8 3 27.27 DKK2 0 genome.wustl.edu 37 4 107845807 107845807 + Missense_Mutation SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 107845807 107845807 G C SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.424 p.L142V 1.000 NULL pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 tier1 - - 49 0 0.00 35 27 43.55 DNAH11 0 genome.wustl.edu 37 7 21730409 21730409 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 21730409 21730409 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.5972 p.T1991I 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 42 0 0.00 49 5 9.26 DNAH11 0 genome.wustl.edu 37 7 21750323 21750323 + Splice_Site SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 21750323 21750323 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known splice_site c.6855+2 e42+2 1.000 - - - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 43 0 0.00 70 15 17.65 DOCK5 0 genome.wustl.edu 37 8 25190123 25190123 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 25190123 25190123 T C SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.2006 p.L669S 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 tier1 - - 46 0 0.00 29 15 34.09 DSC3 0 genome.wustl.edu 37 18 28588320 28588320 + Silent SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 18 28588320 28588320 G T SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known silent c.1435 p.R479 0.233 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 53 0 0.00 26 2 7.14 DSCAM 0 genome.wustl.edu 37 21 41648175 41648175 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 21 41648175 41648175 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.2205 p.Q735 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 30 0 0.00 24 3 11.11 DSCR3 0 genome.wustl.edu 37 21 38600086 38600086 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 21 38600086 38600086 C T SNP DSCR3 ENST00000309117 human ensembl 74_37 -1 known missense c.680 p.R227H 0.997 pfam_VPS26 pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 57 0 0.00 58 4 6.45 DTX2 0 genome.wustl.edu 37 7 76129758 76129758 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 76129758 76129758 G A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.1151 p.G384E 0.938 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 rs147644708 - 20 0 0.00 1 2 66.67 EEF1DP3 0 genome.wustl.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 13 32527507 32527508 GT - DEL EEF1DP3 ENST00000428783 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.035 - - - no_errors EEF1DP3 HGNC ENSG00000229715 tier1 22 0 0.00 25 2 7.41 EEF2 0 genome.wustl.edu 37 19 3982327 3982327 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 3982327 3982327 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known silent c.708 p.F236 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 45 0 0.00 24 3 11.11 EML3 0 genome.wustl.edu 37 11 62372637 62372638 + Frame_Shift_Del DEL CA CA - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 62372637 62372638 CA - DEL EML3 ENST00000529309 human ensembl 74_37 -1 known frame_shift_del c.1930_1929 p.A644fs 1.000:1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENSG00000149499 tier1 64 0 0.00 20 37 64.91 ENOX1 0 genome.wustl.edu 37 13 43986993 43986993 + Missense_Mutation SNP T T A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 13 43986993 43986993 T A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.58 p.M20L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 tier1 - - 66 0 0.00 35 22 38.60 ENOX1 0 genome.wustl.edu 37 13 43986994 43986994 + Missense_Mutation SNP C C A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 13 43986994 43986994 C A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.57 p.Q19H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 tier1 - - 65 0 0.00 35 22 38.60 ENSG00000221279 0 genome.wustl.edu 37 7 110568408 110568409 + RNA DEL CA CA - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 110568408 110568409 CA - DEL ENSG00000221279 ENST00000408352 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.003 - - - no_errors AC005161.1 Clone_based_ensembl_gene ENSG00000221279 tier1 10 0 0.00 3 3 50.00 ENSG00000236233 0 genome.wustl.edu 37 9 67793683 67793683 + RNA SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 9 67793683 67793683 A T SNP ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.063 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 12 0 0.00 12 4 25.00 ENSG00000244306 0 genome.wustl.edu 37 14 19856372 19856372 + RNA SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 19856372 19856372 A G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 13 0 0.00 17 3 15.00 ENSG00000248243 0 genome.wustl.edu 37 3 129813035 129813035 + RNA SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 129813035 129813035 G A SNP ENSG00000248243 ENST00000514010 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RP11-93K22.13 Clone_based_vega_gene ENSG00000248243 tier1 - - 14 0 0.00 16 7 30.43 ENSG00000248243 0 genome.wustl.edu 37 3 129813036 129813036 + RNA SNP C C A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 129813036 129813036 C A SNP ENSG00000248243 ENST00000514010 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-93K22.13 Clone_based_vega_gene ENSG00000248243 tier1 - - 15 0 0.00 17 8 32.00 ENSG00000272769 0 genome.wustl.edu 37 2 133104171 133104172 + RNA INS - - T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 133104171 133104172 - T INS ENSG00000272769 ENST00000608279 human ensembl 74_37 -1 known rna NULL NULL 0.046:0.010 - - - no_errors RP11-725P16.2 Clone_based_vega_gene ENSG00000272769 tier1 8 0 0.00 3 6 66.67 EPHA2 0 genome.wustl.edu 37 1 16460076 16460076 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 16460076 16460076 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.1764 p.Y588 0.126 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 rs148209354 - 39 0 0.00 25 25 50.00 FAM177A1 0 genome.wustl.edu 37 14 35515698 35515698 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 35515698 35515698 T C SNP FAM177A1 ENST00000280987 human ensembl 74_37 +1 known missense c.29 p.L10P 0.012 NULL NULL - no_errors FAM177A1 HGNC ENSG00000151327 tier1 - - 58 0 0.00 280 54 16.17 FAM230B 0 genome.wustl.edu 37 22 21538257 21538257 + RNA SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 22 21538257 21538257 G C SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 26 0 0.00 16 10 38.46 FCGR3A 0 genome.wustl.edu 37 1 161519619 161519619 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 161519619 161519619 C T SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.16 p.G6R 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 tier1 - - 75 0 0.00 54 14 20.59 FILIP1L 0 genome.wustl.edu 37 3 99568272 99568273 + Frame_Shift_Ins INS - - T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 99568272 99568273 - T INS FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_ins c.2248_2247 p.L749fs 1.000:1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 tier1 42 0 0.00 22 2 8.33 FREM3 0 genome.wustl.edu 37 4 144614306 144614306 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 144614306 144614306 G T SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.5235 p.N1745K 0.948 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 44 0 0.00 30 2 6.25 FUT5 0 genome.wustl.edu 37 19 5867206 5867206 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 5867206 5867206 G A SNP FUT5 ENST00000252675 human ensembl 74_37 -1 known silent c.531 p.D177 0.996 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 tier1 - - 42 0 0.00 32 7 17.95 GAS5 0 genome.wustl.edu 37 1 173835048 173835048 + RNA SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 173835048 173835048 G A SNP GAS5 ENST00000425771 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GAS5 HGNC ENSG00000234741 tier1 - - 62 0 0.00 57 4 6.56 GIF 0 genome.wustl.edu 37 11 59610015 59610015 + Missense_Mutation SNP C C G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 59610015 59610015 C G SNP GIF ENST00000257248 human ensembl 74_37 -1 known missense c.412 p.A138P 1.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 tier1 - - 48 0 0.00 29 9 23.68 GINS2 0 genome.wustl.edu 37 16 85712254 85712254 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 85712254 85712254 C T SNP GINS2 ENST00000253462 human ensembl 74_37 -1 known silent c.324 p.P108 0.947 pfam_GINS_complex,pirsf_GINS_Psf2_subgr pfam_GINS_complex,pirsf_GINS_Psf2_subgr - no_errors GINS2 HGNC ENSG00000131153 tier1 - - 11 0 0.00 7 4 36.36 GPR4 0 genome.wustl.edu 37 19 46094736 46094736 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 46094736 46094736 C T SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known missense c.389 p.R130H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 tier1 - - 25 0 0.00 12 4 25.00 GPRIN3 0 genome.wustl.edu 37 4 90168959 90168959 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 90168959 90168959 C T SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.2303 p.R768H 0.552 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 rs145667508 - 40 0 0.00 7 16 69.57 GRIA4 0 genome.wustl.edu 37 11 105483048 105483048 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 105483048 105483048 G T SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.134 p.R45L 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 GRIA4 HGNC ENSG00000152578 79 0 0.00 50 3 5.66 GZF1 0 genome.wustl.edu 37 20 23345474 23345474 + Missense_Mutation SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 20 23345474 23345474 A T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.454 p.S152C 0.001 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 tier1 - - 26 0 0.00 11 8 42.11 HELZ2 0 genome.wustl.edu 37 20 62202818 62202818 + RNA SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 20 62202818 62202818 T C SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 61 0 0.00 43 6 12.24 HERC2P4 0 genome.wustl.edu 37 16 32198420 32198420 + RNA SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 32198420 32198420 C T SNP HERC2P4 ENST00000568097 human ensembl 74_37 -1 known rna NULL NULL 0.904 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 77 0 0.00 62 44 41.51 HSPA1B 0 genome.wustl.edu 37 6 31795842 31795842 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 6 31795842 31795842 C T SNP HSPA1B ENST00000375650 human ensembl 74_37 +1 known missense c.115 p.P39S 1.000 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1B HGNC ENSG00000204388 tier1 - - 34 0 0.00 9 15 62.50 HTATSF1 0 genome.wustl.edu 37 X 135594151 135594151 + Silent SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e X 135594151 135594151 T C SNP HTATSF1 ENST00000218364 human ensembl 74_37 +1 known silent c.2247 p.D749 0.686 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 64 0 0.00 56 4 6.67 IFI44L 0 genome.wustl.edu 37 1 79107493 79107493 + Nonstop_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 79107493 79107493 G T SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known nonstop c.1358 p.*453L 0.000 NULL superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 tier1 - - 75 0 0.00 29 15 34.09 ITPR1 0 genome.wustl.edu 37 3 4888305 4888305 + RNA DEL C C - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 4888305 4888305 C - DEL ITPR1 ENST00000463980 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ITPR1 HGNC ENSG00000150995 tier1 47 0 0.00 9 22 70.97 KIF15 0 genome.wustl.edu 37 3 44882647 44882647 + Missense_Mutation SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 44882647 44882647 G C SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.3502 p.A1168P 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 tier1 - - 30 0 0.00 11 16 59.26 KIF21A 0 genome.wustl.edu 37 12 39735383 39735383 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 39735383 39735383 C T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known silent c.1845 p.E615 0.969 superfamily_ARM-type_fold pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 36 0 0.00 50 3 5.66 KMT2B 0 genome.wustl.edu 37 19 36221688 36221688 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 36221688 36221688 G T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.5357 p.W1786L 0.864 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 50 0 0.00 30 2 6.25 KRT8 0 genome.wustl.edu 37 12 53298675 53298675 + Missense_Mutation SNP A A C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 53298675 53298675 A C SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.91 p.S31A 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 63 0 0.00 43 3 6.52 KRT8 0 genome.wustl.edu 37 12 53298699 53298699 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 53298699 53298699 G A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 66 0 0.00 29 4 12.12 KTN1 0 genome.wustl.edu 37 14 56142634 56142634 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 56142634 56142634 A G SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.3853 p.K1285E 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 tier1 - - 37 0 0.00 34 14 29.17 L3MBTL4 0 genome.wustl.edu 37 18 6311610 6311610 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 18 6311610 6311610 G A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known silent c.15 p.N5 0.952 NULL pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 59 0 0.00 42 19 31.15 LGALS8 0 genome.wustl.edu 37 1 236704981 236704981 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 236704981 236704981 C T SNP LGALS8 ENST00000352231 human ensembl 74_37 +1 known silent c.493 p.L165 0.001 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS8 HGNC ENSG00000116977 tier1 - - 56 0 0.00 32 21 39.62 LINC00943 0 genome.wustl.edu 37 12 127229404 127229404 + RNA SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 127229404 127229404 T C SNP LINC00943 ENST00000345111 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00943 HGNC ENSG00000189238 tier1 - - 109 0 0.00 98 26 20.97 LINC00957 0 genome.wustl.edu 37 7 44080441 44080441 + RNA SNP C C G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 44080441 44080441 C G SNP LINC00957 ENST00000416824 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00957 HGNC ENSG00000235314 tier1 - - 28 0 0.00 37 48 56.47 LOC101928673 0 genome.wustl.edu 37 1 173430053 173430053 + RNA DEL C C - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 173430053 173430053 C - DEL LOC101928673 ENST00000367716 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors RP11-296O14.3 Clone_based_vega_gene ENSG00000203739 tier1 31 0 0.00 27 4 12.90 LOC101930284 0 genome.wustl.edu 37 1 143230361 143230361 + RNA SNP T T A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 143230361 143230361 T A SNP LOC101930284 ENST00000422716 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors RP11-782C8.5 Clone_based_vega_gene ENSG00000225278 tier1 rs199651539 - 73 0 0.00 64 9 12.33 LRP6 0 genome.wustl.edu 37 12 12312804 12312804 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 12312804 12312804 G A SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.2374 p.R792W 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 tier1 - - 61 0 0.00 79 12 13.19 LRRC57 0 genome.wustl.edu 37 15 42837391 42837391 + Missense_Mutation SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 15 42837391 42837391 G C SNP LRRC57 ENST00000323443 human ensembl 74_37 -1 known missense c.562 p.L188V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC57 HGNC ENSG00000180979 tier1 - - 40 0 0.00 28 12 30.00 LRTM1 0 genome.wustl.edu 37 3 54959124 54959124 + Silent SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 54959124 54959124 G T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known silent c.126 p.A42 0.906 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 38 0 0.00 23 3 11.54 LYG1 0 genome.wustl.edu 37 2 99901179 99901179 + Silent SNP T T G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 99901179 99901179 T G SNP LYG1 ENST00000308528 human ensembl 74_37 -1 known silent c.438 p.P146 1.000 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 tier1 - - 32 0 0.00 32 17 34.69 LYPLA1 0 genome.wustl.edu 37 8 54960378 54960378 + RNA SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 54960378 54960378 G C SNP LYPLA1 ENST00000519272 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LYPLA1 HGNC ENSG00000120992 tier1 - - 14 0 0.00 13 6 31.58 MACF1 0 genome.wustl.edu 37 1 39905125 39905125 + Missense_Mutation SNP C C A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 39905125 39905125 C A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.12223 p.P4075T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 45 0 0.00 32 4 11.11 MAML3 0 genome.wustl.edu 37 4 140811081 140811081 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 140811081 140811081 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1509 p.Q503 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 41 0 0.00 37 3 7.50 MAP3K1 0 genome.wustl.edu 37 5 56174810 56174810 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 5 56174810 56174810 A G SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.1969 p.T657A 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 46 0 0.00 33 9 21.43 MAU2 0 genome.wustl.edu 37 19 19460171 19460171 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 19460171 19460171 G A SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.1474 p.E492K 0.998 pfam_Cohesin_loading_factor,smart_TPR_repeat pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 tier1 - - 89 0 0.00 53 26 32.91 MEG3 0 genome.wustl.edu 37 14 101301083 101301083 + RNA SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 101301083 101301083 C T SNP MEG3 ENST00000398461 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 rs112191889 - 31 0 0.00 45 18 28.57 MFSD5 0 genome.wustl.edu 37 12 53646926 53646926 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 53646926 53646926 G T SNP MFSD5 ENST00000534842 human ensembl 74_37 +1 known missense c.628 p.G210C 1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 tier1 - - 55 0 0.00 72 4 5.26 MIOS 0 genome.wustl.edu 37 7 7634722 7634722 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 7634722 7634722 C T SNP MIOS ENST00000340080 human ensembl 74_37 +1 known missense c.2155 p.H719Y 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 tier1 - - 67 0 0.00 78 13 14.29 MIR1277 0 genome.wustl.edu 37 X 117520366 117520367 + RNA DEL AT AT - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e X 117520366 117520367 AT - DEL MIR1277 ENST00000408536 human ensembl 74_37 +1 known rna NULL NULL 0.986:0.997 - - - no_errors MIR1277 HGNC ENSG00000221463 tier1 52 0 0.00 38 6 13.64 MIR30E 0 genome.wustl.edu 37 1 41220064 41220064 + RNA SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 41220064 41220064 G T SNP MIR30E ENST00000362104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR30E HGNC ENSG00000198974 tier1 - - 55 0 0.00 24 25 51.02 MIR411 0 genome.wustl.edu 37 14 101489664 101489664 + RNA SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 101489664 101489664 G T SNP MIR411 ENST00000362239 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR411 HGNC ENSG00000199109 tier1 - - 99 0 0.00 87 46 34.59 MLLT3 0 genome.wustl.edu 37 9 20622295 20622295 + RNA DEL C C - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 9 20622295 20622295 C - DEL MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 tier1 72 0 0.00 69 7 9.21 MOG 0 genome.wustl.edu 37 6 29627252 29627252 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 6 29627252 29627252 A G SNP MOG ENST00000376898 human ensembl 74_37 +1 known missense c.245 p.N82S 0.991 pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MOG HGNC ENSG00000204655 68 0 0.00 44 3 6.25 MPO 0 genome.wustl.edu 37 17 56350190 56350190 + Silent SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 17 56350190 56350190 G T SNP MPO ENST00000340482 human ensembl 74_37 -1 known silent c.1807 p.R603 0.231 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 63 0 0.00 71 4 5.33 MROH2A 0 genome.wustl.edu 37 2 234741841 234741841 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 234741841 234741841 C T SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.4961 p.T1654M 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 39 0 0.00 32 4 11.11 MTBP 0 genome.wustl.edu 37 8 121473471 121473471 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 121473471 121473471 A G SNP MTBP ENST00000305949 human ensembl 74_37 +1 known missense c.953 p.Y318C 0.948 NULL NULL - no_errors MTBP HGNC ENSG00000172167 tier1 - - 57 0 0.00 47 15 24.19 MYNN 0 genome.wustl.edu 37 3 169496707 169496707 + Nonsense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 169496707 169496707 C T SNP MYNN ENST00000349841 human ensembl 74_37 +1 known nonsense c.418 p.Q140* 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 tier1 - - 49 0 0.00 62 7 10.14 MYO5B 0 genome.wustl.edu 37 18 47431143 47431143 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 18 47431143 47431143 G A SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.2470 p.R824C 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 95 0 0.00 75 30 28.57 MYOCD 0 genome.wustl.edu 37 17 12649386 12649386 + Silent SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 17 12649386 12649386 G C SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1122 p.L374 0.998 pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 49 0 0.00 44 4 8.33 N4BP2 0 genome.wustl.edu 37 4 40103753 40103755 + In_Frame_Del DEL ATC ATC - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 40103753 40103755 ATC - DEL N4BP2 ENST00000261435 human ensembl 74_37 +1 known in_frame_del c.288_290 p.S99in_frame_del 0.001:0.036:0.718 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 tier1 31 0 0.00 9 12 57.14 NBEAL1 0 genome.wustl.edu 37 2 203991643 203991643 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 203991643 203991643 A G SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known missense c.3155 p.Y1052C 1.000 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 tier1 - - 106 0 0.00 64 23 26.44 NLRP2 0 genome.wustl.edu 37 19 55494687 55494687 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 55494687 55494687 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1621 p.G541R 0.003 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 tier1 - - 38 0 0.00 24 6 20.00 NPHP1 0 genome.wustl.edu 37 2 110962506 110962506 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 110962506 110962506 G A SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.40 p.R14W 0.992 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 tier1 - - 36 0 0.00 64 4 5.88 NUP107 0 genome.wustl.edu 37 12 69127301 69127301 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 69127301 69127301 A G SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.2171 p.Y724C 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 tier1 - - 30 0 0.00 25 7 21.88 OR10G8 0 genome.wustl.edu 37 11 123900746 123900746 + Silent SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 123900746 123900746 G T SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.417 p.S139 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 105 0 0.00 94 38 28.79 OR10S1 0 genome.wustl.edu 37 11 123847675 123847675 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 123847675 123847675 T C SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.724 p.I242V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 tier1 - - 22 0 0.00 9 8 47.06 OR4K1 0 genome.wustl.edu 37 14 20404271 20404271 + Nonsense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 20404271 20404271 G A SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known nonsense c.446 p.W149* 0.998 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 OR4K1 HGNC ENSG00000155249 tier1 - - 77 0 0.00 137 13 8.61 OR8B12 0 genome.wustl.edu 37 11 124413294 124413294 + Nonsense_Mutation SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 124413294 124413294 G C SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known nonsense c.257 p.S86* 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 tier1 - - 28 0 0.00 10 16 61.54 PANX3 0 genome.wustl.edu 37 11 124489477 124489477 + Silent SNP C C A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 124489477 124489477 C A SNP PANX3 ENST00000284288 human ensembl 74_37 +1 known silent c.825 p.S275 0.164 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 tier1 - - 76 0 0.00 73 17 18.89 PCDH15 0 genome.wustl.edu 37 10 55892731 55892731 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 10 55892731 55892731 T C SNP PCDH15 ENST00000373956 human ensembl 74_37 -1 known missense c.128 p.H43R 0.978 NULL NULL - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 60 0 0.00 34 21 37.50 PCDHGA6 0 genome.wustl.edu 37 5 140754632 140754632 + Nonsense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 5 140754632 140754632 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known nonsense c.982 p.R328* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 44 0 0.00 12 13 52.00 PCGF6 0 genome.wustl.edu 37 10 105110755 105110756 + Frame_Shift_Del DEL CA CA - TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 10 105110755 105110756 CA - DEL PCGF6 ENST00000369847 human ensembl 74_37 -1 known frame_shift_del c.69_68 p.L23fs 0.953:0.836 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 tier1 16 0 0.00 4 2 33.33 PCNX 0 genome.wustl.edu 37 14 71374637 71374637 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 71374637 71374637 G T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.70 p.D24Y 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 55 0 0.00 71 11 13.41 PHACTR1 0 genome.wustl.edu 37 6 13278443 13278443 + RNA SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 6 13278443 13278443 C T SNP PHACTR1 ENST00000481706 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PHACTR1 HGNC ENSG00000112137 tier1 - - 37 0 0.00 29 4 12.12 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs121913279 - 22 0 0.00 21 8 27.59 PIK3R2 0 genome.wustl.edu 37 19 18273104 18273104 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 18273104 18273104 T C SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.994 p.W332R 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 26 0 0.00 30 2 6.25 PLA2G4D 0 genome.wustl.edu 37 15 42363452 42363452 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 15 42363452 42363452 C T SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known missense c.1745 p.G582D 0.015 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 tier1 - - 50 0 0.00 51 4 7.27 PLEKHA5 0 genome.wustl.edu 37 12 19518920 19518920 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 19518920 19518920 G T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.3322 p.A1108S 0.117 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 23 0 0.00 35 2 5.41 PLEKHA7 0 genome.wustl.edu 37 11 16816072 16816072 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 11 16816072 16816072 G T SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.2708 p.S903Y 0.809 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 50 0 0.00 40 3 6.98 POLR1A 0 genome.wustl.edu 37 2 86271425 86271425 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 86271425 86271425 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.2972 p.C991Y 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 31 0 0.00 48 3 5.88 PPIL2 0 genome.wustl.edu 37 22 22043027 22043027 + Missense_Mutation SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 22 22043027 22043027 A T SNP PPIL2 ENST00000412327 human ensembl 74_37 +1 known missense c.1028 p.E343V 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_Rtf2_RING-finger,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 tier1 - - 35 0 0.00 41 8 16.00 PRDM9 0 genome.wustl.edu 37 5 23522919 23522919 + Silent SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 5 23522919 23522919 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.807 p.L269 0.364 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 68 0 0.00 46 22 32.35 PRELP 0 genome.wustl.edu 37 1 203452624 203452624 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 203452624 203452624 C T SNP PRELP ENST00000343110 human ensembl 74_37 +1 known silent c.312 p.I104 1.000 pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 tier1 - - 67 0 0.00 41 21 33.87 PROS1 0 genome.wustl.edu 37 3 93593135 93593135 + Missense_Mutation SNP C C G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 93593135 93593135 C G SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1985 p.R662T 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 tier1 - - 94 0 0.00 46 23 33.33 PRR16 0 genome.wustl.edu 37 5 120021833 120021833 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 5 120021833 120021833 C T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.344 p.T115M 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 tier1 - - 33 0 0.00 14 12 46.15 PSPH 0 genome.wustl.edu 37 7 56079282 56079283 + RNA INS - - A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 56079282 56079283 - A INS PSPH ENST00000459834 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors PSPH HGNC ENSG00000146733 tier1 22 0 0.00 20 4 16.67 PTPRG-AS1 0 genome.wustl.edu 37 3 62278318 62278318 + RNA SNP T T A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 62278318 62278318 T A SNP PTPRG-AS1 ENST00000475371 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors PTPRG-AS1 HGNC ENSG00000241472 tier1 - - 12 0 0.00 4 6 60.00 PTPRT 0 genome.wustl.edu 37 20 41419951 41419951 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 20 41419951 41419951 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.370 p.V124M 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 51 0 0.00 12 35 74.47 PTPRU 0 genome.wustl.edu 37 1 29606613 29606613 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 29606613 29606613 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1828 p.V610M 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 46 0 0.00 27 15 35.71 RNF123 0 genome.wustl.edu 37 3 49739576 49739576 + Missense_Mutation SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 49739576 49739576 G C SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1556 p.G519A 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 tier1 - - 53 0 0.00 7 9 56.25 SBNO2 0 genome.wustl.edu 37 19 1120003 1120003 + Missense_Mutation SNP T T G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 1120003 1120003 T G SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.1169 p.H390P 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 tier1 - - 35 0 0.00 28 11 28.21 SH3BGRL2 0 genome.wustl.edu 37 6 80383498 80383498 + Silent SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 6 80383498 80383498 T C SNP SH3BGRL2 ENST00000369838 human ensembl 74_37 +1 known silent c.213 p.N71 0.999 pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL2 HGNC ENSG00000198478 tier1 - - 14 0 0.00 2 8 80.00 SI 0 genome.wustl.edu 37 3 164727159 164727159 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 3 164727159 164727159 G T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4087 p.P1363T 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 51 0 0.00 49 12 19.67 SLC12A1 0 genome.wustl.edu 37 15 48500102 48500102 + Missense_Mutation SNP T T G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 15 48500102 48500102 T G SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.186 p.F62L 1.000 prints_Na/K/Cl_cotranspt2 pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 24 0 0.00 11 23 67.65 SLC23A2 0 genome.wustl.edu 37 20 4848460 4848460 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 20 4848460 4848460 A G SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known missense c.1312 p.S438P 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 22 0 0.00 31 4 11.43 SLC36A2 0 genome.wustl.edu 37 5 150704916 150704916 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 5 150704916 150704916 G A SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.941 p.A314V 0.945 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 tier1 - - 57 0 0.00 29 18 38.30 SLC47A2 0 genome.wustl.edu 37 17 19611088 19611088 + Missense_Mutation SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 17 19611088 19611088 A T SNP SLC47A2 ENST00000325411 human ensembl 74_37 -1 known missense c.806 p.L269Q 0.001 tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 tier1 - - 28 0 0.00 14 15 51.72 SLC9B1 0 genome.wustl.edu 37 4 103867843 103867843 + Silent SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 103867843 103867843 G T SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known silent c.486 p.T162 0.954 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 tier1 - - 92 0 0.00 76 4 5.00 SMPDL3A 0 genome.wustl.edu 37 6 123110453 123110453 + RNA SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 6 123110453 123110453 G A SNP SMPDL3A ENST00000487215 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SMPDL3A HGNC ENSG00000172594 tier1 - - 10 0 0.00 1 5 83.33 SPATA17 0 genome.wustl.edu 37 1 217947781 217947781 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 217947781 217947781 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.625 p.K209E 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 tier1 - - 44 0 0.00 32 15 31.91 SPHKAP 0 genome.wustl.edu 37 2 228884710 228884710 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 228884710 228884710 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.860 p.P287Q 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 81 0 0.00 58 4 6.45 SSBP1 0 genome.wustl.edu 37 7 141443477 141443477 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 7 141443477 141443477 G A SNP SSBP1 ENST00000265304 human ensembl 74_37 +1 known missense c.202 p.G68R 1.000 pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd - no_errors SSBP1 HGNC ENSG00000106028 tier1 - - 54 0 0.00 40 4 9.09 SULT1A2 0 genome.wustl.edu 37 16 28603714 28603714 + Silent SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 16 28603714 28603714 C T SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known silent c.645 p.L215 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 126 0 0.00 94 8 7.84 TCHH 0 genome.wustl.edu 37 1 152082500 152082500 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 152082500 152082500 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3193 p.G1065R 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 106 0 0.00 72 36 33.33 TDH 0 genome.wustl.edu 37 8 11219212 11219212 + RNA SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 11219212 11219212 G A SNP TDH ENST00000525246 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TDH HGNC ENSG00000154316 tier1 - - 56 0 0.00 18 33 64.71 TLL1 0 genome.wustl.edu 37 4 166910623 166910623 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 166910623 166910623 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.260 p.G87V 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 58 0 0.00 20 2 9.09 TOP3B 0 genome.wustl.edu 37 22 22316801 22316801 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 22 22316801 22316801 C T SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1525 p.G509S 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 tier1 - - 71 0 0.00 60 6 9.09 TP53 0 genome.wustl.edu 37 17 7577498 7577498 + Splice_Site SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 17 7577498 7577498 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.782+1 e6+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 250 0 0.00 82 225 73.29 TPO 0 genome.wustl.edu 37 2 1426896 1426896 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 1426896 1426896 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.174 p.M58I 0.046 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 33 0 0.00 40 3 6.98 TPP2 0 genome.wustl.edu 37 13 103330576 103330576 + Splice_Site SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 13 103330576 103330576 G A SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known splice_site c.3661-1 e29-1 1.000 - - - no_errors TPP2 HGNC ENSG00000134900 30 0 0.00 31 4 11.43 TSPAN8 0 genome.wustl.edu 37 12 71526592 71526592 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 71526592 71526592 C T SNP TSPAN8 ENST00000247829 human ensembl 74_37 -1 known missense c.457 p.G153S 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 tier1 - - 41 0 0.00 51 9 15.00 TTLL7 0 genome.wustl.edu 37 1 84399407 84399407 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 1 84399407 84399407 G T SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.931 p.L311M 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 tier1 - - 56 0 0.00 25 4 13.79 TTN 0 genome.wustl.edu 37 2 179640736 179640736 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 179640736 179640736 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5855 p.H1952R 0.563 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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 - - 48 0 0.00 33 13 28.26 TTTY5 0 genome.wustl.edu 37 Y 24443783 24443783 + RNA SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e Y 24443783 24443783 G C SNP TTTY5 ENST00000400581 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors TTTY5 HGNC ENSG00000215560 tier1 - - 30 0 0.00 46 33 41.77 TUBGCP5 0 genome.wustl.edu 37 15 22842144 22842144 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 15 22842144 22842144 G T SNP TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known missense c.583 p.D195Y 0.980 NULL pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 24 0 0.00 27 2 6.67 USP9X 0 genome.wustl.edu 37 X 41057781 41057781 + Nonsense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e X 41057781 41057781 G T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known nonsense c.4381 p.E1461* 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 tier1 - - 66 0 0.00 41 4 8.89 VAMP8 0 genome.wustl.edu 37 2 85808700 85808700 + Missense_Mutation SNP C C T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 2 85808700 85808700 C T SNP VAMP8 ENST00000263864 human ensembl 74_37 +1 known missense c.164 p.S55F 0.993 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin,pfscan_Synaptobrevin - no_errors VAMP8 HGNC ENSG00000118640 tier1 - - 63 0 0.00 70 30 30.00 VEGFC 0 genome.wustl.edu 37 4 177650746 177650746 + Nonsense_Mutation SNP G G C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 4 177650746 177650746 G C SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known nonsense c.302 p.S101* 0.089 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 tier1 - - 86 0 0.00 47 35 42.68 VIPAS39 0 genome.wustl.edu 37 14 77895359 77895359 + Missense_Mutation SNP A A G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 77895359 77895359 A G SNP VIPAS39 ENST00000343765 human ensembl 74_37 -1 known missense c.1346 p.V449A 1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 54 0 0.00 74 4 5.13 VPS13B 0 genome.wustl.edu 37 8 100871642 100871642 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 100871642 100871642 G T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.11053 p.G3685C 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 37 0 0.00 39 3 7.14 WHSC1L1 0 genome.wustl.edu 37 8 38175279 38175280 + RNA INS - - A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 8 38175279 38175280 - A INS WHSC1L1 ENST00000525081 human ensembl 74_37 -1 known rna NULL NULL 0.635:0.998 - - - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 18 0 0.00 23 3 11.54 YBX2 0 genome.wustl.edu 37 17 7193602 7193602 + Missense_Mutation SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 17 7193602 7193602 G A SNP YBX2 ENST00000007699 human ensembl 74_37 -1 known missense c.712 p.P238S 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 tier1 - - 96 0 0.00 71 24 25.26 ZADH2 0 genome.wustl.edu 37 18 72914034 72914034 + Silent SNP G G A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 18 72914034 72914034 G A SNP ZADH2 ENST00000322342 human ensembl 74_37 -1 known silent c.471 p.G157 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ZADH2 HGNC ENSG00000180011 tier1 - - 16 0 0.00 13 6 31.58 ZADH2 0 genome.wustl.edu 37 18 72914035 72914035 + Missense_Mutation SNP C C A TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 18 72914035 72914035 C A SNP ZADH2 ENST00000322342 human ensembl 74_37 -1 known missense c.470 p.G157V 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ZADH2 HGNC ENSG00000180011 tier1 - - 16 0 0.00 13 6 31.58 ZFHX2 0 genome.wustl.edu 37 14 23999349 23999349 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 14 23999349 23999349 T C SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known missense c.2855 p.Q952R 0.998 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 ZFHX2 HGNC ENSG00000136367 tier1 - - 31 0 0.00 51 5 8.93 ZNF10 0 genome.wustl.edu 37 12 133727694 133727694 + Silent SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 12 133727694 133727694 G T SNP ZNF10 ENST00000248211 human ensembl 74_37 +1 known silent c.114 p.V38 0.998 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF10 HGNC ENSG00000256223 56 0 0.00 53 3 5.36 ZNF536 0 genome.wustl.edu 37 19 31039123 31039123 + Missense_Mutation SNP C C G TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 31039123 31039123 C G SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2597 p.S866C 0.947 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 34 0 0.00 25 8 24.24 ZNF540 0 genome.wustl.edu 37 19 38102492 38102492 + Missense_Mutation SNP T T C TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 38102492 38102492 T C SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known missense c.311 p.I104T 0.088 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 ZNF540 HGNC ENSG00000171817 tier1 - - 27 0 0.00 20 6 23.08 ZNF547 0 genome.wustl.edu 37 19 57889016 57889016 + Missense_Mutation SNP G G T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d617f90-3296-4b9a-b5c0-e717cebd3f25 50939d6d-df1d-4f3e-8857-c4d11e46ba5e 19 57889016 57889016 G T SNP ZNF547 ENST00000282282 human ensembl 74_37 +1 known missense c.672 p.K224N 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF547 HGNC ENSG00000152433 63 0 0.00 39 4 9.30