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 ABCB6 0 genome.wustl.edu 37 2 220082512 220082512 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 220082512 220082512 C A SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.567 p.W189C 1.000 NULL 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 ABCB6 HGNC ENSG00000115657 62 0 0.00 44 4 8.33 ACBD4 0 genome.wustl.edu 37 17 43216519 43216519 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 43216519 43216519 C T SNP ACBD4 ENST00000321854 human ensembl 74_37 +1 known missense c.781 p.P261S 0.219 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 tier1 - - 100 0 0.00 55 17 23.61 ADAMTS19 0 genome.wustl.edu 37 5 129039941 129039941 + Frame_Shift_Del DEL A A - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 5 129039941 129039941 A - DEL ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known frame_shift_del c.3151 p.K1051fs 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 60 0 0.00 17 2 10.53 ADAMTSL1 0 genome.wustl.edu 37 9 18721596 18721596 + Missense_Mutation SNP C C G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 9 18721596 18721596 C G SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.1939 p.L647V 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 tier1 - - 69 0 0.00 16 8 33.33 AHSA1 0 genome.wustl.edu 37 14 77924544 77924544 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 14 77924544 77924544 G T SNP AHSA1 ENST00000216479 human ensembl 74_37 +1 known missense c.12 p.W4C 1.000 NULL pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 tier1 - - 71 0 0.00 41 4 8.89 AIM1L 0 genome.wustl.edu 37 1 26670651 26670653 + In_Frame_Del DEL TCC TCC - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 26670651 26670653 TCC - DEL AIM1L ENST00000374207 human ensembl 74_37 -1 known in_frame_del c.533_531 p.E178in_frame_del 0.998:0.998:0.968 NULL superfamily_PDZ - no_errors AIM1L HGNC ENSG00000176092 tier1 48 0 0.00 30 3 9.09 AKNA 0 genome.wustl.edu 37 9 117138828 117138828 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 9 117138828 117138828 G A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.1259 p.T420M 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 72 0 0.00 41 3 6.82 ALDH3B1 0 genome.wustl.edu 37 11 67786319 67786319 + Silent SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 67786319 67786319 G A SNP ALDH3B1 ENST00000007633 human ensembl 74_37 +1 known silent c.348 p.P116 0.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3B1 HGNC ENSG00000006534 41 0 0.00 24 4 14.29 AMPH 0 genome.wustl.edu 37 7 38468072 38468072 + RNA SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 38468072 38468072 G T SNP AMPH ENST00000471913 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 62 0 0.00 12 8 40.00 AMPH 0 genome.wustl.edu 37 7 38468073 38468073 + RNA SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 38468073 38468073 C T SNP AMPH ENST00000471913 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 61 0 0.00 12 8 40.00 ANKRD28 0 genome.wustl.edu 37 3 15753656 15753656 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 15753656 15753656 G T SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.1273 p.L425I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 67 0 0.00 24 2 7.69 ANKRD30B 0 genome.wustl.edu 37 18 14852390 14852390 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 18 14852390 14852390 C A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.4090 p.Q1364K 0.485 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 50 0 0.00 23 2 8.00 APOH 0 genome.wustl.edu 37 17 64219888 64219888 + Frame_Shift_Del DEL A A - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 64219888 64219888 A - DEL APOH ENST00000205948 human ensembl 74_37 -1 known frame_shift_del c.343 p.Y115fs 0.995 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 tier1 56 0 0.00 33 2 5.71 AQR 0 genome.wustl.edu 37 15 35178780 35178780 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 15 35178780 35178780 G T SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.2764 p.P922T 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 tier1 - - 65 0 0.00 10 9 47.37 ARAP2 0 genome.wustl.edu 37 4 36230984 36230984 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 36230984 36230984 T C SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.125 p.N42S 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 52 0 0.00 8 9 52.94 ARHGAP42 0 genome.wustl.edu 37 11 100792317 100792317 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 100792317 100792317 G T SNP ARHGAP42 ENST00000298815 human ensembl 74_37 +1 known missense c.579 p.K193N 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ENSG00000165895 tier1 - - 95 0 0.00 68 4 5.56 ARHGEF1 0 genome.wustl.edu 37 19 42406492 42406492 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 42406492 42406492 G A SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.1528 p.V510M 0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 tier1 - - 49 0 0.00 3 5 62.50 ATR 0 genome.wustl.edu 37 3 142172056 142172056 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 142172056 142172056 G T SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.7675 p.H2559N 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 50 0 0.00 25 3 10.71 BBS9 0 genome.wustl.edu 37 7 33423379 33423379 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 33423379 33423379 G A SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.1891 p.D631N 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 tier1 - - 98 0 0.00 57 7 10.94 BDNF 0 genome.wustl.edu 37 11 27679009 27679011 + RNA DEL TGT TGT - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 27679009 27679011 TGT - DEL BDNF ENST00000584049 human ensembl 74_37 -1 known rna NULL NULL 0.021:0.000:0.000 - - - no_errors BDNF HGNC ENSG00000176697 tier1 12 0 0.00 4 2 33.33 BRAF 0 genome.wustl.edu 37 7 140481412 140481412 + Nonsense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 140481412 140481412 C A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known nonsense c.1396 p.G466* 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 65 0 0.00 30 2 6.25 BRCA1 0 genome.wustl.edu 37 17 41219693 41219693 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 41219693 41219693 G T SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.5069 p.A1690D 1.000 pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 tier1 - - 42 0 0.00 24 3 11.11 C8orf82 0 genome.wustl.edu 37 8 145753146 145753146 + Missense_Mutation SNP G G C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 8 145753146 145753146 G C SNP C8orf82 ENST00000524821 human ensembl 74_37 -1 known missense c.231 p.F77L 1.000 NULL NULL - no_errors C8orf82 HGNC ENSG00000213563 tier1 - - 82 0 0.00 61 16 20.78 CAD 0 genome.wustl.edu 37 2 27456547 27456547 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 27456547 27456547 C T SNP CAD ENST00000264705 human ensembl 74_37 +1 known silent c.3270 p.S1090 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 24 0 0.00 10 3 23.08 CCDC108 0 genome.wustl.edu 37 2 219890846 219890846 + Silent SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 219890846 219890846 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.2247 p.C749 0.993 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 31 0 0.00 12 4 25.00 CCDC30 0 genome.wustl.edu 37 1 43002201 43002201 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 43002201 43002201 G A SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.46 p.E16K 0.998 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 41 0 0.00 25 4 13.79 CCSER2 0 genome.wustl.edu 37 10 86185632 86185632 + Frame_Shift_Del DEL A A - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 10 86185632 86185632 A - DEL CCSER2 ENST00000372088 human ensembl 74_37 +1 known frame_shift_del c.1851 p.S619fs 0.396 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 tier1 34 0 0.00 22 2 8.33 CD109 0 genome.wustl.edu 37 6 74475877 74475877 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 74475877 74475877 G T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.1332 p.K444N 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 54 0 0.00 23 3 11.54 CD1C 0 genome.wustl.edu 37 1 158262114 158262114 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 158262114 158262114 T C SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.569 p.L190S 0.284 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 tier1 - - 49 0 0.00 17 13 43.33 CDC6 0 genome.wustl.edu 37 17 38457118 38457118 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 38457118 38457118 G T SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.1288 p.G430C 0.999 pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 tier1 - - 55 0 0.00 17 3 15.00 CDCA7L 0 genome.wustl.edu 37 7 21956476 21956477 + Frame_Shift_Ins INS - - G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 21956476 21956477 - G INS CDCA7L ENST00000406877 human ensembl 74_37 -1 known frame_shift_ins c.61_60 p.S20fs 1.000:1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 tier1 54 0 0.00 27 2 6.90 CDH20 0 genome.wustl.edu 37 18 59170238 59170238 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 18 59170238 59170238 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known silent c.714 p.Y238 0.959 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 83 0 0.00 30 2 6.25 CDK5R2 0 genome.wustl.edu 37 2 219825199 219825201 + In_Frame_Del DEL GCT GCT - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 219825199 219825201 GCT - DEL CDK5R2 ENST00000302625 human ensembl 74_37 +1 known in_frame_del c.657_659 p.L222in_frame_del 0.998:1.000:1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC ENSG00000171450 tier1 13 0 0.00 3 2 40.00 CEACAM5 0 genome.wustl.edu 37 19 42221564 42221564 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 42221564 42221564 C T SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known silent c.1149 p.V383 0.004 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 - - 143 0 0.00 61 12 16.22 CLEC4F 0 genome.wustl.edu 37 2 71044150 71044150 + Silent SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 71044150 71044150 G T SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known silent c.363 p.I121 0.976 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 54 0 0.00 34 2 5.56 CNEP1R1 0 genome.wustl.edu 37 16 50059594 50059594 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 16 50059594 50059594 G T SNP CNEP1R1 ENST00000458059 human ensembl 74_37 +1 known missense c.58 p.V20F 0.020 NULL pfam_Transmembrane_protein_188 - no_errors CNEP1R1 HGNC ENSG00000205423 68 0 0.00 30 4 11.76 COL6A6 0 genome.wustl.edu 37 3 130282295 130282295 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 130282295 130282295 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.448 p.A150T 0.890 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 45 0 0.00 28 2 6.67 COX10 0 genome.wustl.edu 37 17 14063220 14063220 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 14063220 14063220 C T SNP COX10 ENST00000261643 human ensembl 74_37 +1 known silent c.651 p.N217 1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 tier1 - - 49 0 0.00 25 11 30.56 CSMD1 0 genome.wustl.edu 37 8 2876139 2876139 + Frame_Shift_Del DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 8 2876139 2876139 T - DEL CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_del c.7892 p.N2631fs 0.983 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 73 0 0.00 18 2 10.00 CUL7 0 genome.wustl.edu 37 6 43016265 43016265 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 43016265 43016265 C T SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.2120 p.R707H 0.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 53 0 0.00 38 2 5.00 CYP24A1 0 genome.wustl.edu 37 20 52781025 52781025 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 52781025 52781025 G T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.810 p.D270E 0.014 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 86 0 0.00 30 4 11.76 CYP2A13 0 genome.wustl.edu 37 19 41596050 41596050 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 41596050 41596050 C A SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.442 p.R148S 0.971 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 tier1 rs146067729 - 98 0 0.00 44 4 8.33 DBR1 0 genome.wustl.edu 37 3 137886121 137886121 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 137886121 137886121 C A SNP DBR1 ENST00000260803 human ensembl 74_37 -1 known missense c.516 p.L172F 1.000 pfam_PEstase_dom pfam_DBR1_C,pfam_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 tier1 - - 30 0 0.00 11 6 35.29 DDX51 0 genome.wustl.edu 37 12 132628264 132628264 + Frame_Shift_Del DEL C C - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 132628264 132628264 C 0 DEL DDX51 ENST00000397333 human ensembl 74_37 -1 known frame_shift_del c.495 p.F166fs 0.359 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 13 0 0.00 4 2 33.33 DHX36 0 genome.wustl.edu 37 3 153993988 153993988 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 153993988 153993988 G T SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.2999 p.P1000Q 0.303 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 tier1 - - 43 0 0.00 17 3 15.00 DLGAP4 0 genome.wustl.edu 37 20 35156046 35156047 + RNA DEL CA CA - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 35156046 35156047 CA - DEL DLGAP4 ENST00000475894 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors DLGAP4 HGNC ENSG00000080845 tier1 24 0 0.00 4 2 33.33 DNAH9 0 genome.wustl.edu 37 17 11523027 11523027 + Nonsense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 11523027 11523027 G T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known nonsense c.1279 p.E427* 0.052 pfam_Dynein_heavy_dom-1 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 DNAH9 HGNC ENSG00000007174 31 0 0.00 21 3 12.50 DNHD1 0 genome.wustl.edu 37 11 6588210 6588210 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 6588210 6588210 G T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.11471 p.G3824V 0.774 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 36 0 0.00 18 3 14.29 DOCK11 0 genome.wustl.edu 37 X 117676956 117676956 + Frame_Shift_Del DEL C C - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e X 117676956 117676956 C - DEL DOCK11 ENST00000276202 human ensembl 74_37 +1 known frame_shift_del c.287 p.Q97fs 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 tier1 62 0 0.00 11 2 15.38 DPP10 0 genome.wustl.edu 37 2 116548723 116548723 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 116548723 116548723 C T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1610 p.P537L 0.954 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 45 0 0.00 32 5 13.51 EEF2 0 genome.wustl.edu 37 19 3982335 3982335 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 3982335 3982335 C A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.700 p.A234S 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 tier1 - - 39 0 0.00 20 4 16.67 EEPD1 0 genome.wustl.edu 37 7 36324326 36324326 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 36324326 36324326 C T SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known missense c.1073 p.A358V 0.021 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 84 0 0.00 54 3 5.26 ENSG00000232623 0 genome.wustl.edu 37 21 33680842 33680842 + RNA SNP T T G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 21 33680842 33680842 T G SNP ENSG00000232623 ENST00000450936 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors AP000266.7 Clone_based_vega_gene ENSG00000232623 tier1 - - 68 0 0.00 27 12 30.77 ENSG00000235999 0 genome.wustl.edu 37 1 149287783 149287783 + RNA SNP A A G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 149287783 149287783 A G SNP ENSG00000235999 ENST00000433084 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000235999 tier1 rs138496340 - 52 0 0.00 19 3 13.64 ENSG00000254433 0 genome.wustl.edu 37 11 105967443 105967443 + RNA SNP A A G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 105967443 105967443 A G SNP ENSG00000254433 ENST00000527594 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-677I18.3 Clone_based_vega_gene ENSG00000254433 tier1 - - 42 0 0.00 15 14 48.28 ENSG00000259198 0 genome.wustl.edu 37 15 40605506 40605506 + RNA DEL G G - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 15 40605506 40605506 G - DEL ENSG00000259198 ENST00000559030 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-133K1.6 Clone_based_vega_gene ENSG00000259198 tier1 26 0 0.00 5 2 28.57 ENTHD1 0 genome.wustl.edu 37 22 40140045 40140045 + Missense_Mutation SNP A A G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 22 40140045 40140045 A G SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1463 p.L488P 0.001 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 52 0 0.00 16 3 15.79 EPHA5 0 genome.wustl.edu 37 4 66230783 66230783 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 66230783 66230783 G T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2188 p.Q730K 1.000 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom 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,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 112 0 0.00 37 3 7.50 FAM9A 0 genome.wustl.edu 37 X 8761714 8761714 + Silent SNP A A C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e X 8761714 8761714 A C SNP FAM9A ENST00000381003 human ensembl 74_37 -1 known silent c.915 p.L305 0.004 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 tier1 - - 34 0 0.00 12 3 20.00 FASTKD5 0 genome.wustl.edu 37 20 3128170 3128170 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 3128170 3128170 G A SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known missense c.1547 p.T516I 1.000 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 14 0 0.00 10 2 16.67 FBXO18 0 genome.wustl.edu 37 10 5960397 5960397 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 10 5960397 5960397 G T SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.2209 p.A737S 1.000 pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 28 0 0.00 9 3 25.00 FER 0 genome.wustl.edu 37 5 108516448 108516448 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 5 108516448 108516448 G T SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.2049 p.R683S 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 105 0 0.00 44 4 8.33 FERMT2 0 genome.wustl.edu 37 14 53327793 53327794 + RNA INS - - A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 14 53327793 53327794 - A INS FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 41 0 0.00 21 3 12.50 FGD5 0 genome.wustl.edu 37 3 14862129 14862129 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 14862129 14862129 G T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.1551 p.E517D 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 tier1 - - 90 0 0.00 33 4 10.81 FIP1L1 0 genome.wustl.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 54319248 54319249 AG - DEL FIP1L1 ENST00000337488 human ensembl 74_37 +1 known frame_shift_del c.1447_1448 p.E486fs 0.975:0.991 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 tier1 30 0 0.00 19 4 17.39 FLG 0 genome.wustl.edu 37 1 152277995 152277995 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 152277995 152277995 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9367 p.G3123W 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 60 0 0.00 28 5 15.15 FTSJ1 0 genome.wustl.edu 37 X 48340858 48340858 + Silent SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e X 48340858 48340858 G T SNP FTSJ1 ENST00000348411 human ensembl 74_37 +1 known silent c.723 p.L241 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJ1 HGNC ENSG00000068438 tier1 - - 31 0 0.00 9 3 25.00 GABARAPL2 0 genome.wustl.edu 37 16 75611681 75611681 + RNA SNP A A G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 16 75611681 75611681 A G SNP GABARAPL2 ENST00000565985 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GABARAPL2 HGNC ENSG00000034713 tier1 - - 33 0 0.00 18 15 45.45 GALNT8 0 genome.wustl.edu 37 12 4872542 4872542 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 4872542 4872542 G A SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.1483 p.V495M 0.077 superfamily_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 tier1 - - 53 0 0.00 45 4 8.16 GAS2 0 genome.wustl.edu 37 11 22747882 22747882 + Silent SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 22747882 22747882 G T SNP GAS2 ENST00000278187 human ensembl 74_37 +1 known silent c.312 p.S104 0.961 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2 HGNC ENSG00000148935 tier1 - - 77 0 0.00 53 5 8.62 GCLC 0 genome.wustl.edu 37 6 53373988 53373988 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 53373988 53373988 T C SNP GCLC ENST00000229416 human ensembl 74_37 -1 known missense c.814 p.I272V 0.997 pfam_GCS pfam_GCS - no_errors GCLC HGNC ENSG00000001084 tier1 - - 46 0 0.00 27 7 20.59 GON4L 0 genome.wustl.edu 37 1 155733171 155733171 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 155733171 155733171 G T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.4658 p.A1553D 0.061 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 101 0 0.00 58 4 6.45 GON4L 0 genome.wustl.edu 37 1 155753864 155753864 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 155753864 155753864 C A SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.1805 p.G602V 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 108 0 0.00 67 4 5.63 GPR98 0 genome.wustl.edu 37 5 90281288 90281288 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 5 90281288 90281288 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.18101 p.G6034V 0.997 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 62 0 0.00 30 2 6.25 HCAR3 0 genome.wustl.edu 37 12 123201265 123201265 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 123201265 123201265 T C SNP HCAR3 ENST00000528880 human ensembl 74_37 -1 known missense c.20 p.Q7R 0.000 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HCAR3 HGNC ENSG00000255398 tier1 - - 76 0 0.00 25 8 24.24 HELZ2 0 genome.wustl.edu 37 20 62191586 62191586 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 62191586 62191586 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.7595 p.S2532N 0.864 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 70 0 0.00 29 4 12.12 HIRIP3 0 genome.wustl.edu 37 16 30005705 30005705 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 16 30005705 30005705 T C SNP HIRIP3 ENST00000279392 human ensembl 74_37 -1 known missense c.761 p.K254R 0.000 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 98 0 0.00 38 2 5.00 HIST1H4H 0 genome.wustl.edu 37 6 26285573 26285573 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 26285573 26285573 T C SNP HIST1H4H ENST00000289352 human ensembl 74_37 -1 known missense c.155 p.Y52C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4H HGNC ENSG00000158406 tier1 - - 62 0 0.00 34 18 34.62 HIST2H3D 0 genome.wustl.edu 37 1 149785084 149785084 + Missense_Mutation SNP C C G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 149785084 149785084 C G SNP HIST2H3D ENST00000331491 human ensembl 74_37 -1 known missense c.153 p.E51D 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 tier1 - - 106 0 0.00 47 10 17.54 HMCN2 0 genome.wustl.edu 37 9 133284204 133284204 + RNA SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 9 133284204 133284204 G A SNP HMCN2 ENST00000487727 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors HMCN2 HGNC ENSG00000148357 tier1 - - 62 0 0.00 14 10 41.67 HOXC10 0 genome.wustl.edu 37 12 54383342 54383343 + RNA INS - - A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 54383342 54383343 - A INS HOXC10 ENST00000511575 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors HOXC10 HGNC ENSG00000180818 tier1 41 0 0.00 25 2 7.41 HSPA6 0 genome.wustl.edu 37 1 161495860 161495860 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 161495860 161495860 G A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.1412 p.R471H 0.989 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 tier1 rs41299256 - 57 0 0.00 29 6 17.14 HYAL2 0 genome.wustl.edu 37 3 50357844 50357844 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 50357844 50357844 G A SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known missense c.77 p.T26I 1.000 pfam_Hyaluronidase,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 tier1 - - 24 0 0.00 5 9 64.29 IL5RA 0 genome.wustl.edu 37 3 3139885 3139885 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 3139885 3139885 G A SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known missense c.457 p.L153F 0.985 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 84 0 0.00 21 2 8.70 INO80D 0 genome.wustl.edu 37 2 206874404 206874404 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 206874404 206874404 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.1657 p.R553C 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 90 0 0.00 61 4 6.15 ISYNA1 0 genome.wustl.edu 37 19 18546480 18546480 + Missense_Mutation SNP T T A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 18546480 18546480 T A SNP ISYNA1 ENST00000338128 human ensembl 74_37 -1 known missense c.1147 p.I383F 1.000 pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 tier1 - - 33 0 0.00 9 4 30.77 ITGA10 0 genome.wustl.edu 37 1 145532437 145532437 + RNA DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 145532437 145532437 T - DEL ITGA10 ENST00000481236 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ITGA10 HGNC ENSG00000143127 tier1 26 0 0.00 6 2 25.00 ITPR3 0 genome.wustl.edu 37 6 33659405 33659405 + Silent SNP G G C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 33659405 33659405 G C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.7239 p.G2413 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 34 0 0.00 19 3 13.64 ITSN1 0 genome.wustl.edu 37 21 35209308 35209309 + RNA INS - - C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 21 35209308 35209309 - C INS ITSN1 ENST00000472548 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors ITSN1 HGNC ENSG00000205726 tier1 55 0 0.00 37 2 5.13 KCNB2 0 genome.wustl.edu 37 8 73849090 73849090 + Silent SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 8 73849090 73849090 G A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.1500 p.S500 0.236 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 43 0 0.00 36 2 5.26 KDM4B 0 genome.wustl.edu 37 19 5119803 5119805 + In_Frame_Del DEL GAG GAG - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 5119803 5119805 GAG - DEL KDM4B ENST00000159111 human ensembl 74_37 +1 known in_frame_del c.1255_1257 p.E422in_frame_del 0.988:1.000:1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 30 0 0.00 9 2 18.18 KDR 0 genome.wustl.edu 37 4 55964887 55964887 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 55964887 55964887 T C SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.2350 p.I784V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 50 0 0.00 18 17 48.57 KIF26B 0 genome.wustl.edu 37 1 245850135 245850135 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 245850135 245850135 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3850 p.E1284K 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 KIF26B HGNC ENSG00000162849 tier1 - - 31 0 0.00 15 6 28.57 KIF3B 0 genome.wustl.edu 37 20 30919073 30919073 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 30919073 30919073 C T SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.2195 p.T732I 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 tier1 - - 45 0 0.00 32 4 11.11 KNTC1 0 genome.wustl.edu 37 12 123087277 123087277 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 123087277 123087277 G T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.4815 p.W1605C 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 72 0 0.00 50 5 9.09 LCORL 0 genome.wustl.edu 37 4 17885614 17885614 + Frame_Shift_Del DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 17885614 17885614 T - DEL LCORL ENST00000382226 human ensembl 74_37 -1 known frame_shift_del c.1538 p.K513fs 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC ENSG00000178177 tier1 62 0 0.00 19 2 9.52 LINC00029 0 genome.wustl.edu 37 20 61665826 61665826 + RNA SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 61665826 61665826 C T SNP LINC00029 ENST00000370341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00029 HGNC ENSG00000125514 tier1 - - 20 0 0.00 7 4 36.36 LOC101927708 0 genome.wustl.edu 37 11 3602402 3602402 + RNA DEL A A - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 3602402 3602402 A - DEL LOC101927708 ENST00000527970 human ensembl 74_37 -1 known rna NULL NULL 0.632 - - - no_errors RP13-726E6.2 Clone_based_vega_gene ENSG00000255367 tier1 30 0 0.00 3 2 40.00 LRRN3 0 genome.wustl.edu 37 7 110763077 110763077 + Missense_Mutation SNP A A T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 110763077 110763077 A T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.249 p.K83N 0.999 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 47 0 0.00 11 8 42.11 LTBP2 0 genome.wustl.edu 37 14 74973428 74973428 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 14 74973428 74973428 T C SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.4006 p.I1336V 0.988 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 tier1 - - 47 0 0.00 16 5 23.81 MAMDC4 0 genome.wustl.edu 37 9 139752668 139752668 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 9 139752668 139752668 G A SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.2851 p.A951T 0.049 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,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 - no_errors MAMDC4 HGNC ENSG00000177943 65 0 0.00 36 4 10.00 MASP1 0 genome.wustl.edu 37 3 187009140 187009140 + Splice_Site DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 187009140 187009140 T - DEL MASP1 ENST00000392470 human ensembl 74_37 -1 putative splice_site_del c.1-2 e1-2 0.948 - - - no_errors MASP1 HGNC ENSG00000127241 tier1 55 0 0.00 12 2 14.29 MCEE 0 genome.wustl.edu 37 2 71336956 71336956 + RNA SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 71336956 71336956 T C SNP MCEE ENST00000462609 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MCEE HGNC ENSG00000124370 tier1 - - 71 0 0.00 32 12 27.27 MED13L 0 genome.wustl.edu 37 12 116429734 116429734 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 116429734 116429734 C A SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.3025 p.D1009Y 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 - - 37 0 0.00 17 5 22.73 MED15 0 genome.wustl.edu 37 22 20918793 20918795 + In_Frame_Del DEL CAG CAG - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 22 20918793 20918795 CAG - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known in_frame_del c.508_510 p.Q173in_frame_del 1.000:1.000:0.999 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 59 0 0.00 20 3 13.04 MEIS1 0 genome.wustl.edu 37 2 66739317 66739317 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 66739317 66739317 C T SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.779 p.T260I 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 69 0 0.00 26 3 10.34 MGAT5B 0 genome.wustl.edu 37 17 74928738 74928738 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 74928738 74928738 G A SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.1336 p.D446N 0.999 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 - - 46 0 0.00 17 12 41.38 MIR3684 0 genome.wustl.edu 37 4 99918539 99918539 + RNA SNP A A G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 99918539 99918539 A G SNP MIR3684 ENST00000579779 human ensembl 74_37 +1 known rna NULL NULL 0.154 - - - no_errors MIR3684 HGNC ENSG00000265213 tier1 - - 65 0 0.00 20 16 44.44 MIR720 0 genome.wustl.edu 37 3 164059164 164059164 + RNA SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 164059164 164059164 G T SNP MIR720 ENST00000408828 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors MIR720 HGNC ENSG00000221755 tier1 - - 123 0 0.00 54 17 23.94 MME 0 genome.wustl.edu 37 3 154889996 154889996 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 154889996 154889996 G T SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.2071 p.A691S 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 tier1 - - 72 0 0.00 27 21 43.75 MPHOSPH8 0 genome.wustl.edu 37 13 20207922 20207922 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 13 20207922 20207922 G A SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.34 p.A12T 0.001 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 tier1 - - 66 0 0.00 34 4 10.53 MRGPRX4 0 genome.wustl.edu 37 11 18195433 18195433 + Silent SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 18195433 18195433 G A SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known silent c.630 p.P210 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 tier1 - - 84 0 0.00 66 4 5.71 MRPS5 0 genome.wustl.edu 37 2 95753228 95753228 + Frame_Shift_Del DEL C C - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 95753228 95753228 C - DEL MRPS5 ENST00000272418 human ensembl 74_37 -1 known frame_shift_del c.1167 p.L391fs 0.000 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 tier1 58 0 0.00 34 2 5.56 MT-TC 0 genome.wustl.edu 37 MT 5814 5814 + RNA SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e MT 5814 5814 T C SNP MT-TC ENST00000387405 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TC HGNC ENSG00000210140 tier1 rs200077222 - 170 0 0.00 45 107 70.39 MUC19 0 genome.wustl.edu 37 12 40917139 40917139 + RNA SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 40917139 40917139 G T SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 66 0 0.00 23 8 25.81 NCAPH 0 genome.wustl.edu 37 2 97008986 97008986 + Frame_Shift_Del DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 97008986 97008986 T - DEL NCAPH ENST00000240423 human ensembl 74_37 +1 known frame_shift_del c.539 p.L183fs 0.998 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 tier1 47 0 0.00 24 2 7.69 NOTCH1 0 genome.wustl.edu 37 9 139413049 139413049 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 9 139413049 139413049 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.1093 p.R365C 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 70 0 0.00 13 10 43.48 NRD1 0 genome.wustl.edu 37 1 52302076 52302076 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 52302076 52302076 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.799 p.A267T 0.988 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 30 0 0.00 18 3 13.64 NUCB1 0 genome.wustl.edu 37 19 49404095 49404097 + In_Frame_Del DEL GCT GCT - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 49404095 49404097 GCT - DEL NUCB1 ENST00000263273 human ensembl 74_37 +1 known in_frame_del c.42_44 p.L18in_frame_del 0.000:0.000:0.000 NULL pfscan_EF_hand_dom - no_errors NUCB1 HGNC ENSG00000104805 tier1 93 0 0.00 31 3 8.82 NUP98 0 genome.wustl.edu 37 11 3733897 3733897 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 3733897 3733897 G T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.2639 p.S880Y 0.949 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 tier1 - - 73 0 0.00 19 3 13.64 OR2W5 0 genome.wustl.edu 37 1 247655201 247655201 + RNA SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 247655201 247655201 C T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.469 - - - no_errors OR2W5 HGNC ENSG00000203664 tier1 - - 50 0 0.00 23 11 32.35 OR6T1 0 genome.wustl.edu 37 11 123813686 123813686 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 123813686 123813686 G A SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.860 p.P287L 0.974 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 63 0 0.00 18 2 10.00 OR8H3 0 genome.wustl.edu 37 11 55889986 55889986 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 55889986 55889986 G T SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.138 p.M46I 0.102 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 115 0 0.00 56 17 23.29 OSBP 0 genome.wustl.edu 37 11 59376070 59376070 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 59376070 59376070 G A SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.709 p.R237C 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 tier1 - - 43 0 0.00 27 6 18.18 OSBPL6 0 genome.wustl.edu 37 2 179257143 179257143 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 179257143 179257143 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known silent c.2463 p.S821 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 86 0 0.00 34 4 10.53 PAX8 0 genome.wustl.edu 37 2 114004339 114004339 + Silent SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 114004339 114004339 G T SNP PAX8 ENST00000429538 human ensembl 74_37 -1 known silent c.183 p.I61 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 tier1 - - 28 0 0.00 29 4 12.12 PCDHA7 0 genome.wustl.edu 37 5 140215472 140215472 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 5 140215472 140215472 C A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1504 p.R502S 0.859 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 168 0 0.00 43 26 37.68 PDGFRA 0 genome.wustl.edu 37 4 55161318 55161318 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 55161318 55161318 T C SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.3149 p.I1050T 0.603 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 82 0 0.00 27 2 6.90 PEAK1 0 genome.wustl.edu 37 15 77472942 77472942 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 15 77472942 77472942 C T SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.1327 p.V443I 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 71 0 0.00 26 18 40.91 PITPNM2 0 genome.wustl.edu 37 12 123498531 123498531 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 123498531 123498531 C A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.137 p.R46L 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 19 0 0.00 15 4 21.05 PITPNM3 0 genome.wustl.edu 37 17 6380423 6380423 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 6380423 6380423 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.1011 p.P337 0.934 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 tier1 - - 46 0 0.00 24 4 14.29 PKD2L2 0 genome.wustl.edu 37 5 137230250 137230250 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 5 137230250 137230250 C T SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known missense c.476 p.T159I 0.002 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 tier1 - - 85 0 0.00 23 10 30.30 PLCE1 0 genome.wustl.edu 37 10 95892039 95892039 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 10 95892039 95892039 G T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.1315 p.G439C 0.655 superfamily_Ras_GEF_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 49 0 0.00 16 8 33.33 PLEKHA5 0 genome.wustl.edu 37 12 19408050 19408050 + Missense_Mutation SNP A A G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 19408050 19408050 A G SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.383 p.Y128C 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 - - 64 0 0.00 20 7 25.93 PLEKHB2 0 genome.wustl.edu 37 2 131904275 131904275 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 131904275 131904275 G T SNP PLEKHB2 ENST00000403716 human ensembl 74_37 +1 known missense c.598 p.D200Y 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 tier1 - - 58 0 0.00 52 4 7.14 PMM2 0 genome.wustl.edu 37 16 8895707 8895707 + Frame_Shift_Del DEL A A - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 16 8895707 8895707 A - DEL PMM2 ENST00000268261 human ensembl 74_37 +1 known frame_shift_del c.118 p.I41fs 1.000 pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM2 HGNC ENSG00000140650 tier1 75 0 0.00 29 2 6.45 POU3F3 0 genome.wustl.edu 37 2 105472850 105472852 + In_Frame_Del DEL CGG CGG - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 105472850 105472852 CGG - DEL POU3F3 ENST00000361360 human ensembl 74_37 +1 known in_frame_del c.882_884 p.G298in_frame_del 1.000:1.000:1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 tier1 36 0 0.00 9 2 18.18 PPP1R1A 0 genome.wustl.edu 37 12 54974789 54974789 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 54974789 54974789 T C SNP PPP1R1A ENST00000257905 human ensembl 74_37 -1 known missense c.449 p.E150G 0.551 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 tier1 - - 127 0 0.00 36 10 21.74 PPP1R3A 0 genome.wustl.edu 37 7 113519505 113519505 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 113519505 113519505 G T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1642 p.P548T 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 64 0 0.00 25 5 16.67 PRPF40A 0 genome.wustl.edu 37 2 153572602 153572602 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 153572602 153572602 C T SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known missense c.123 p.M41I 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 tier1 - - 30 0 0.00 23 4 14.81 PRPS2 0 genome.wustl.edu 37 X 12837706 12837706 + Missense_Mutation SNP G G C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e X 12837706 12837706 G C SNP PRPS2 ENST00000398491 human ensembl 74_37 +1 known missense c.620 p.R207P 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS2 HGNC ENSG00000101911 22 0 0.00 8 2 20.00 PRSS22 0 genome.wustl.edu 37 16 2906218 2906218 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 16 2906218 2906218 C T SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known missense c.146 p.R49Q 0.704 superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 tier1 - - 61 0 0.00 16 6 27.27 PSG2 0 genome.wustl.edu 37 19 43585989 43585990 + RNA INS - - T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 43585989 43585990 - T INS PSG2 ENST00000491995 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.004 - - - no_errors PSG2 HGNC ENSG00000242221 tier1 24 0 0.00 2 2 50.00 PTPRJ 0 genome.wustl.edu 37 11 48149405 48149405 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 48149405 48149405 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.1167 p.S389 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 51 0 0.00 18 2 10.00 PYGB 0 genome.wustl.edu 37 20 25228820 25228820 + Silent SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 25228820 25228820 G T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known silent c.6 p.A2 0.289 NULL pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 tier1 - - 62 0 0.00 24 4 14.29 QRICH1 0 genome.wustl.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 49094314 49094316 TGC - DEL QRICH1 ENST00000357496 human ensembl 74_37 -1 known in_frame_del c.1319_1317 p.Q440in_frame_del 1.000:1.000:1.000 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 tier1 43 0 0.00 15 2 11.76 RBM26 0 genome.wustl.edu 37 13 79928659 79928659 + Missense_Mutation SNP T T A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 13 79928659 79928659 T A SNP RBM26 ENST00000438724 human ensembl 74_37 -1 known missense c.1901 p.Q634L 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 34 0 0.00 10 4 28.57 RELL1 0 genome.wustl.edu 37 4 37650945 37650945 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 4 37650945 37650945 G A SNP RELL1 ENST00000314117 human ensembl 74_37 -1 known missense c.266 p.T89I 0.994 pfam_TNF_rcpt_RELT pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 72 0 0.00 19 2 9.52 RFX7 0 genome.wustl.edu 37 15 56386135 56386135 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 15 56386135 56386135 G A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.3791 p.A1264V 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 45 0 0.00 12 3 20.00 RICTOR 0 genome.wustl.edu 37 5 38942960 38942960 + Nonsense_Mutation SNP A A C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 5 38942960 38942960 A C SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known nonsense c.5099 p.L1700* 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 82 0 0.00 54 9 14.29 ROCK1P1 0 genome.wustl.edu 37 18 121145 121147 + RNA DEL TTG TTG - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 18 121145 121147 TTG - DEL ROCK1P1 ENST00000608049 human ensembl 74_37 +1 known rna NULL NULL 0.605:0.625:0.630 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 21 0 0.00 15 4 21.05 RYR2 0 genome.wustl.edu 37 1 237811850 237811850 + Silent SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 237811850 237811850 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.7443 p.F2481 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 87 0 0.00 27 3 10.00 S100A8 0 genome.wustl.edu 37 1 153362902 153362902 + Missense_Mutation SNP A A G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 153362902 153362902 A G SNP S100A8 ENST00000368732 human ensembl 74_37 -1 known missense c.110 p.L37S 0.023 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A8 HGNC ENSG00000143546 tier1 - - 51 0 0.00 18 5 21.74 SCN7A 0 genome.wustl.edu 37 2 167327160 167327160 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 167327160 167327160 G T SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.629 p.T210N 0.535 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 83 0 0.00 56 3 5.08 SGK494 0 genome.wustl.edu 37 17 26938412 26938412 + Frame_Shift_Del DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 26938412 26938412 T - DEL SGK494 ENST00000301037 human ensembl 74_37 -1 known frame_shift_del c.899 p.K300fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors SGK494 Clone_based_vega_gene ENSG00000167524 tier1 51 0 0.00 15 2 11.76 SGOL2 0 genome.wustl.edu 37 2 201437233 201437233 + Missense_Mutation SNP A A T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 201437233 201437233 A T SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known missense c.2164 p.I722L 0.957 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 tier1 - - 45 0 0.00 20 5 20.00 SI 0 genome.wustl.edu 37 3 164700808 164700808 + Silent SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 164700808 164700808 T C SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.5229 p.V1743 0.514 NULL 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 - - 64 0 0.00 28 8 22.22 SI 0 genome.wustl.edu 37 3 164709998 164709998 + Silent SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 164709998 164709998 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.4950 p.Y1650 0.141 pfam_Glyco_hydro_31 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 - - 68 0 0.00 21 8 27.59 SLC12A5 0 genome.wustl.edu 37 20 44673759 44673759 + Frame_Shift_Del DEL G G - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 44673759 44673759 G - DEL SLC12A5 ENST00000454036 human ensembl 74_37 +1 known frame_shift_del c.1618 p.G540fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 40 0 0.00 12 2 14.29 SLC6A12 0 genome.wustl.edu 37 12 306657 306657 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 306657 306657 C T SNP SLC6A12 ENST00000359674 human ensembl 74_37 -1 known missense c.961 p.A321T 0.936 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine - no_errors SLC6A12 HGNC ENSG00000111181 tier1 - - 46 0 0.00 27 5 15.62 SLC7A6 0 genome.wustl.edu 37 16 68331203 68331203 + Frame_Shift_Del DEL A A - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 16 68331203 68331203 A - DEL SLC7A6 ENST00000219343 human ensembl 74_37 +1 known frame_shift_del c.1520 p.K509fs 0.821 NULL pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 tier1 62 0 0.00 30 3 9.09 SMTN 0 genome.wustl.edu 37 22 31489516 31489516 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 22 31489516 31489516 C A SNP SMTN ENST00000404574 human ensembl 74_37 +1 putative missense c.83 p.A28E 0.003 NULL pfam_CH-domain,pfam_Smoothelin,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 tier1 - - 41 0 0.00 24 7 22.58 SNCG 0 genome.wustl.edu 37 10 88722801 88722801 + RNA SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 10 88722801 88722801 C A SNP SNCG ENST00000483064 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNCG HGNC ENSG00000173267 tier1 - - 41 0 0.00 12 6 33.33 SNHG1 0 genome.wustl.edu 37 11 62620423 62620423 + RNA DEL C C - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 62620423 62620423 C - DEL SNHG1 ENST00000384756 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors SNHG1 HGNC ENSG00000255717 tier1 43 0 0.00 35 2 5.41 SOX11 0 genome.wustl.edu 37 2 5833526 5833528 + In_Frame_Del DEL GAC GAC - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 5833526 5833528 GAC - DEL SOX11 ENST00000322002 human ensembl 74_37 +1 known in_frame_del c.673_675 p.D228in_frame_del 1.000:1.000:0.999 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 26 0 0.00 10 4 28.57 SOX12 0 genome.wustl.edu 37 20 307342 307343 + Frame_Shift_Ins INS - - C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 20 307342 307343 - C INS SOX12 ENST00000342665 human ensembl 74_37 +1 known frame_shift_ins c.774_775 p.G260fs 0.997:1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX12 HGNC ENSG00000177732 tier1 30 0 0.00 6 2 25.00 SPTY2D1-AS1 0 genome.wustl.edu 37 11 18621528 18621528 + RNA SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 18621528 18621528 C T SNP SPTY2D1-AS1 ENST00000501599 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors SPTY2D1-AS1 HGNC ENSG00000247595 tier1 - - 84 0 0.00 40 30 42.25 STX10 0 genome.wustl.edu 37 19 13255457 13255457 + Missense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 13255457 13255457 C A SNP STX10 ENST00000587230 human ensembl 74_37 -1 known missense c.607 p.D203Y 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX10 HGNC ENSG00000104915 tier1 - - 25 0 0.00 13 5 27.78 SYTL3 0 genome.wustl.edu 37 6 159086477 159086477 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 159086477 159086477 C T SNP SYTL3 ENST00000297239 human ensembl 74_37 +1 known missense c.161 p.T54M 0.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL3 HGNC ENSG00000164674 38 0 0.00 25 2 7.41 TECTA 0 genome.wustl.edu 37 11 121016684 121016684 + Frame_Shift_Del DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 121016684 121016684 T - DEL TECTA ENST00000264037 human ensembl 74_37 +1 known frame_shift_del c.3964 p.F1322fs 0.990 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 48 0 0.00 11 2 15.38 TERT 0 genome.wustl.edu 37 5 1279450 1279450 + Missense_Mutation SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 5 1279450 1279450 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.2086 p.R696C 0.732 pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 57 0 0.00 27 8 22.86 TFCP2 0 genome.wustl.edu 37 12 51512514 51512514 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 51512514 51512514 C T SNP TFCP2 ENST00000257915 human ensembl 74_37 -1 known missense c.164 p.S55N 0.997 NULL pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC ENSG00000135457 84 0 0.00 34 2 5.56 TMEM131 0 genome.wustl.edu 37 2 98418927 98418928 + Frame_Shift_Ins INS - - A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 98418927 98418928 - A INS TMEM131 ENST00000186436 human ensembl 74_37 -1 known frame_shift_ins c.2615_2614 p.S872fs 1.000:1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 tier1 76 0 0.00 29 14 32.56 TMPRSS6 0 genome.wustl.edu 37 22 37470670 37470670 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 22 37470670 37470670 C T SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.1421 p.G474D 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 tier1 - - 33 0 0.00 21 4 16.00 TNXB 0 genome.wustl.edu 37 6 32014070 32014070 + Silent SNP G G C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 32014070 32014070 G C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.10482 p.A3494 0.071 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 84 0 0.00 28 14 33.33 TNXB 0 genome.wustl.edu 37 6 32014071 32014071 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 6 32014071 32014071 G T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.10481 p.A3494D 0.245 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 84 0 0.00 28 14 33.33 TP53 0 genome.wustl.edu 37 17 7578290 7578290 + Splice_Site SNP C C G TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 7578290 7578290 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.560-1 e5-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 53 0 0.00 21 5 19.23 TP53 0 genome.wustl.edu 37 17 7577084 7577084 + Missense_Mutation SNP T T A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 7577084 7577084 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.854 p.E285V 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 52 0 0.00 22 4 15.38 TPCN1 0 genome.wustl.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 113704096 113704098 CTG - DEL TPCN1 ENST00000541517 human ensembl 74_37 +1 known in_frame_del c.565_567 p.L192in_frame_del 1.000:1.000:1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 tier1 48 0 0.00 25 3 10.71 TRIM25 0 genome.wustl.edu 37 17 54978858 54978858 + Missense_Mutation SNP T T A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 54978858 54978858 T A SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known missense c.1009 p.I337F 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 tier1 - - 60 0 0.00 27 12 30.77 TRIM55 0 genome.wustl.edu 37 8 67066571 67066571 + Splice_Site SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 8 67066571 67066571 T C SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known splice_site c.1524+2 e9+2 1.000 - - - no_errors TRIM55 HGNC ENSG00000147573 tier1 - - 25 0 0.00 10 3 23.08 TTC40 0 genome.wustl.edu 37 10 134690433 134690433 + Silent SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 10 134690433 134690433 T C SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known silent c.4245 p.E1415 0.006 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 59 0 0.00 15 6 28.57 TTN 0 genome.wustl.edu 37 2 179585761 179585761 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 179585761 179585761 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19253 p.S6418Y 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,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,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 28 0 0.00 16 2 11.11 TTR 0 genome.wustl.edu 37 18 29175162 29175162 + Missense_Mutation SNP G G C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 18 29175162 29175162 G C SNP TTR ENST00000237014 human ensembl 74_37 +1 known missense c.280 p.D94H 1.000 pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase - no_errors TTR HGNC ENSG00000118271 87 0 0.00 36 2 5.26 TUB 0 genome.wustl.edu 37 11 8118318 8118318 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 8118318 8118318 C T SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.817 p.R273C 1.000 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 tier1 - - 37 0 0.00 11 4 26.67 UBA3 0 genome.wustl.edu 37 3 69105806 69105806 + Missense_Mutation SNP T T A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 69105806 69105806 T A SNP UBA3 ENST00000361055 human ensembl 74_37 -1 known missense c.1040 p.D347V 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA3 HGNC ENSG00000144744 tier1 - - 45 0 0.00 14 8 36.36 UBN2 0 genome.wustl.edu 37 7 138969300 138969300 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 138969300 138969300 G T SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.3649 p.V1217L 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 tier1 - - 31 0 0.00 32 4 11.11 UNC13A 0 genome.wustl.edu 37 19 17759280 17759280 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 17759280 17759280 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.2040 p.H680Q 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 54 0 0.00 22 5 18.52 UNC5B 0 genome.wustl.edu 37 10 73056419 73056419 + Frame_Shift_Del DEL A A - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 10 73056419 73056419 A - DEL UNC5B ENST00000335350 human ensembl 74_37 +1 known frame_shift_del c.2410 p.T804fs 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 tier1 48 0 0.00 17 2 10.53 USP43 0 genome.wustl.edu 37 17 9631606 9631606 + Missense_Mutation SNP C C T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 17 9631606 9631606 C T SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.2671 p.P891S 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 30 0 0.00 19 3 13.64 VGLL3 0 genome.wustl.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 3 87027857 87027859 CTC - DEL VGLL3 ENST00000398399 human ensembl 74_37 -1 known in_frame_del c.222_220 p.E74in_frame_del 1.000:1.000:1.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 tier1 47 0 0.00 16 3 15.79 VPS54 0 genome.wustl.edu 37 2 64189243 64189243 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 2 64189243 64189243 G T SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.959 p.A320E 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 102 0 0.00 55 3 5.08 WAC 0 genome.wustl.edu 37 10 28899729 28899729 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 10 28899729 28899729 G T SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1267 p.A423S 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 76 0 0.00 31 2 6.06 WNK1 0 genome.wustl.edu 37 12 970189 970189 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 12 970189 970189 G T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.1631 p.G544V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 66 0 0.00 48 4 7.69 XRRA1 0 genome.wustl.edu 37 11 74656099 74656099 + RNA DEL T T - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 11 74656099 74656099 T - DEL XRRA1 ENST00000524430 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors XRRA1 HGNC ENSG00000166435 tier1 52 0 0.00 30 5 14.29 ZFHX4 0 genome.wustl.edu 37 8 77775449 77775451 + In_Frame_Del DEL CCT CCT - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 8 77775449 77775451 CCT - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known in_frame_del c.9499_9501 p.P3170in_frame_del 1.000:0.995:0.658 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 50 0 0.00 24 3 11.11 ZMYND19 0 genome.wustl.edu 37 9 140482240 140482240 + Silent SNP A A T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 9 140482240 140482240 A T SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known silent c.147 p.A49 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 tier1 - - 93 0 0.00 38 17 30.91 ZNF136 0 genome.wustl.edu 37 19 12298428 12298428 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 12298428 12298428 G T SNP ZNF136 ENST00000343979 human ensembl 74_37 +1 known missense c.1235 p.R412I 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF136 HGNC ENSG00000196646 65 0 0.00 39 3 7.14 ZNF254 0 genome.wustl.edu 37 19 24310230 24310230 + Silent SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 24310230 24310230 C A SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known silent c.1428 p.T476 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF254 HGNC ENSG00000213096 68 0 0.00 46 10 17.86 ZNF3 0 genome.wustl.edu 37 7 99672873 99672873 + Silent SNP G G A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 7 99672873 99672873 G A SNP ZNF3 ENST00000299667 human ensembl 74_37 -1 known silent c.156 p.T52 0.910 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 ZNF3 HGNC ENSG00000166526 tier1 - - 45 0 0.00 11 5 31.25 ZNF443 0 genome.wustl.edu 37 19 12541473 12541473 + Nonsense_Mutation SNP C C A TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 12541473 12541473 C A SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known nonsense c.1513 p.E505* 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF443 HGNC ENSG00000180855 tier1 - - 59 0 0.00 20 4 16.67 ZNF600 0 genome.wustl.edu 37 19 53269156 53269156 + Missense_Mutation SNP G G T TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 19 53269156 53269156 G T SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.1853 p.A618D 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 128 0 0.00 60 4 6.25 ZNF644 0 genome.wustl.edu 37 1 91406514 91406514 + Missense_Mutation SNP T T C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 91406514 91406514 T C SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.397 p.K133E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 31 0 0.00 4 5 55.56 ZNF703 0 genome.wustl.edu 37 8 37555934 37555936 + In_Frame_Del DEL CGC CGC - TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 CGC CGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 8 37555934 37555936 CGC - DEL ZNF703 ENST00000331569 human ensembl 74_37 +1 known in_frame_del c.1515_1517 p.A509in_frame_del 0.974:0.996:0.997 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 tier1 25 0 0.00 7 3 30.00 ZZZ3 0 genome.wustl.edu 37 1 78030077 78030077 + RNA SNP A A C TCGA-LN-A9FR-01A-11D-A387-09 TCGA-LN-A9FR-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f234ab6a-0cad-432f-948a-6728266f3b1c 4974181f-23a7-4b20-8aef-ece89709a24e 1 78030077 78030077 A C SNP ZZZ3 ENST00000481346 human ensembl 74_37 -1 known rna NULL NULL 0.193 - - - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 12 0 0.00 5 7 58.33