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 ACCS 0 genome.wustl.edu 37 11 44089274 44089274 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 44089274 44089274 G A SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.97 p.E33K 0.004 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 tier1 - - 58 0 0.00 43 17 27.87 ADNP2 0 genome.wustl.edu 37 18 77895502 77895502 + Missense_Mutation SNP G G C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 18 77895502 77895502 G C SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.2206 p.A736P 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 tier1 - - 42 0 0.00 36 11 22.45 AKAP10 0 genome.wustl.edu 37 17 19861383 19861383 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 19861383 19861383 G T SNP AKAP10 ENST00000225737 human ensembl 74_37 -1 known missense c.821 p.A274D 1.000 superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors AKAP10 HGNC ENSG00000108599 tier1 - - 75 0 0.00 71 5 6.58 ALDH1B1 0 genome.wustl.edu 37 9 38396960 38396960 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 9 38396960 38396960 C T SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known silent c.1215 p.G405 0.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 48 0 0.00 55 3 5.17 ALPK2 0 genome.wustl.edu 37 18 56202661 56202661 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 18 56202661 56202661 C T SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known silent c.4758 p.Q1586 0.004 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 24 0 0.00 34 2 5.56 APC2 0 genome.wustl.edu 37 19 1457140 1457140 + Missense_Mutation SNP C C G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 1457140 1457140 C G SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.1105 p.R369G 1.000 superfamily_ARM-type_fold pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 tier1 - - 17 0 0.00 5 4 44.44 APOL3 0 genome.wustl.edu 37 22 36537664 36537664 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 22 36537664 36537664 C T SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.793 p.V265I 0.000 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 tier1 - - 23 0 0.00 26 4 13.33 AR 0 genome.wustl.edu 37 X 66765195 66765195 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 66765195 66765195 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.207 p.Q69 0.995 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 50 0 0.00 51 4 7.27 ARHGEF17 0 genome.wustl.edu 37 11 73021802 73021802 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 73021802 73021802 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.2119 p.R707C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 43 0 0.00 29 27 48.21 ARHGEF39 0 genome.wustl.edu 37 9 35662990 35662990 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 9 35662990 35662990 C T SNP ARHGEF39 ENST00000378387 human ensembl 74_37 -1 known missense c.626 p.R209H 0.423 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 tier1 rs147148814 - 44 0 0.00 37 4 9.76 ARID1A 0 genome.wustl.edu 37 1 27097621 27097622 + Frame_Shift_Ins INS - - A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 27097621 27097622 - A INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.3210_3211 p.W1072fs 1.000:1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 54 0 0.00 44 17 27.87 ARSB 0 genome.wustl.edu 37 5 78135223 78135223 + Missense_Mutation SNP T T A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 78135223 78135223 T A SNP ARSB ENST00000264914 human ensembl 74_37 -1 known missense c.1169 p.E390V 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSB HGNC ENSG00000113273 tier1 - - 36 0 0.00 34 15 30.61 ASH1L 0 genome.wustl.edu 37 1 155450046 155450046 + Missense_Mutation SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 155450046 155450046 A T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2615 p.I872N 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 29 0 0.00 41 3 6.82 ATHL1 0 genome.wustl.edu 37 11 293646 293646 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 293646 293646 C T SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known silent c.1533 p.F511 0.994 pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 tier1 - - 26 0 0.00 20 11 35.48 BAI1 0 genome.wustl.edu 37 8 143623556 143623556 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 143623556 143623556 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.3961 p.G1321S 0.991 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 72 0 0.00 91 37 28.91 BASP1 0 genome.wustl.edu 37 5 17275448 17275448 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 17275448 17275448 G T SNP BASP1 ENST00000322611 human ensembl 74_37 +1 known missense c.123 p.E41D 0.978 pfam_BASP1 pfam_BASP1 - no_errors BASP1 HGNC ENSG00000176788 tier1 - - 23 0 0.00 13 10 41.67 BCAM 0 genome.wustl.edu 37 19 45322020 45322020 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 45322020 45322020 G A SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.1217 p.G406D 0.645 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 tier1 - - 35 0 0.00 45 4 8.00 BCAP31 0 genome.wustl.edu 37 X 152967491 152967491 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 152967491 152967491 G A SNP BCAP31 ENST00000458587 human ensembl 74_37 -1 known missense c.874 p.R292C 1.000 NULL pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 tier1 - - 76 0 0.00 71 40 36.04 BCL7A 0 genome.wustl.edu 37 12 122468610 122468610 + Nonsense_Mutation SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 122468610 122468610 A T SNP BCL7A ENST00000538010 human ensembl 74_37 +1 known nonsense c.97 p.K33* 1.000 pfam_BCL7 pfam_BCL7 - no_errors BCL7A HGNC ENSG00000110987 41 0 0.00 43 4 8.51 BLK 0 genome.wustl.edu 37 8 11414253 11414253 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 11414253 11414253 G A SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.859 p.V287M 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_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 50 0 0.00 62 4 6.06 BLNK 0 genome.wustl.edu 37 10 97960771 97960771 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 97960771 97960771 G T SNP BLNK ENST00000224337 human ensembl 74_37 -1 known silent c.978 p.P326 0.005 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 tier1 - - 30 0 0.00 26 10 27.78 C17orf58 0 genome.wustl.edu 37 17 65989137 65989137 + Missense_Mutation SNP G G C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 65989137 65989137 G C SNP C17orf58 ENST00000334461 human ensembl 74_37 -1 known missense c.126 p.D42E 0.000 NULL NULL - no_errors C17orf58 HGNC ENSG00000186665 tier1 - - 44 0 0.00 32 14 30.43 C1orf87 0 genome.wustl.edu 37 1 60506762 60506762 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 60506762 60506762 G T SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known silent c.384 p.T128 0.527 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 32 0 0.00 34 2 5.56 C2CD4C 0 genome.wustl.edu 37 19 407400 407400 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 407400 407400 C T SNP C2CD4C ENST00000332235 human ensembl 74_37 -1 known missense c.962 p.R321H 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors C2CD4C HGNC ENSG00000183186 tier1 - - 16 0 0.00 7 4 36.36 C3orf17 0 genome.wustl.edu 37 3 112729516 112729516 + Missense_Mutation SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 112729516 112729516 T C SNP C3orf17 ENST00000314400 human ensembl 74_37 -1 known missense c.949 p.N317D 0.996 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 33 0 0.00 45 4 8.16 C6 0 genome.wustl.edu 37 5 41154084 41154084 + Missense_Mutation SNP C C G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 41154084 41154084 C G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.2118 p.K706N 0.998 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 44 0 0.00 30 2 6.25 C9orf9 0 genome.wustl.edu 37 9 135763819 135763819 + Nonsense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 9 135763819 135763819 C T SNP C9orf9 ENST00000356311 human ensembl 74_37 +1 known nonsense c.490 p.Q164* 0.797 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 tier1 - - 63 0 0.00 61 22 26.51 CACNA2D3 0 genome.wustl.edu 37 3 55108159 55108159 + Frame_Shift_Del DEL G G - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 55108159 55108159 G - DEL CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known frame_shift_del c.3202 p.G1069fs 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 32 0 0.00 37 2 5.13 CAPG 0 genome.wustl.edu 37 2 85625215 85625215 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 85625215 85625215 G T SNP CAPG ENST00000263867 human ensembl 74_37 -1 known missense c.820 p.L274I 0.001 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 tier1 - - 52 0 0.00 59 4 6.35 CBLN2 0 genome.wustl.edu 37 18 70205937 70205937 + Missense_Mutation SNP T T A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 18 70205937 70205937 T A SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.428 p.Y143F 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 43 0 0.00 21 2 8.70 CCDC41 0 genome.wustl.edu 37 12 94729531 94729531 + RNA SNP T T A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 94729531 94729531 T A SNP CCDC41 ENST00000546587 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC41 HGNC ENSG00000173588 tier1 - - 22 0 0.00 18 7 28.00 CCDC88A 0 genome.wustl.edu 37 2 55529121 55529121 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 55529121 55529121 G A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.4559 p.T1520M 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 tier1 rs200839306 - 44 0 0.00 39 4 9.30 CDKL1 0 genome.wustl.edu 37 14 50808938 50808938 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 14 50808938 50808938 G A SNP CDKL1 ENST00000395834 human ensembl 74_37 -1 known silent c.369 p.C123 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 CDKL1 HGNC ENSG00000100490 36 0 0.00 62 4 6.06 CFTR 0 genome.wustl.edu 37 7 117251832 117251832 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 117251832 117251832 G T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.3337 p.A1113S 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 69 0 0.00 74 4 5.13 CGN 0 genome.wustl.edu 37 1 151509295 151509295 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 151509295 151509295 G T SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.3396 p.Q1132H 0.999 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 tier1 - - 35 0 0.00 45 4 8.16 CHST7 0 genome.wustl.edu 37 X 46434207 46434207 + Silent SNP A A C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 46434207 46434207 A C SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known silent c.841 p.R281 0.399 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 tier1 - - 15 0 0.00 21 6 22.22 CIITA 0 genome.wustl.edu 37 16 11001372 11001372 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 11001372 11001372 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known silent c.2023 p.L675 0.574 pfscan_NACHT_NTPase,prints_MHC_II_transact superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 tier1 - - 16 0 0.00 8 11 57.89 CIITA 0 genome.wustl.edu 37 16 11002890 11002890 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 11002890 11002890 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.2662 p.A888T 0.004 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 tier1 - - 35 0 0.00 48 4 7.69 CIRBP-AS1 0 genome.wustl.edu 37 19 1270231 1270232 + RNA INS - - C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 1270231 1270232 - C INS CIRBP-AS1 ENST00000585832 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 tier1 13 0 0.00 25 3 10.71 CIRBP-AS1 0 genome.wustl.edu 37 19 1270232 1270232 + RNA DEL C C - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 1270232 1270232 C - DEL CIRBP-AS1 ENST00000585832 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 tier1 13 0 0.00 25 3 10.71 CLCN2 0 genome.wustl.edu 37 3 184069853 184069853 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 184069853 184069853 C T SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.2363 p.C788Y 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 tier1 - - 27 0 0.00 48 4 7.69 COL22A1 0 genome.wustl.edu 37 8 139601151 139601151 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 139601151 139601151 G A SNP COL22A1 ENST00000341807 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 23 0 0.00 29 12 29.27 COL2A1 0 genome.wustl.edu 37 12 48367925 48367925 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 48367925 48367925 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.4264 p.R1422W 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 34 0 0.00 37 2 5.13 COPB1 0 genome.wustl.edu 37 11 14498481 14498481 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 14498481 14498481 C T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.1439 p.R480H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 tier1 - - 27 0 0.00 35 4 10.26 CPA2 0 genome.wustl.edu 37 7 129906763 129906763 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 129906763 129906763 G A SNP CPA2 ENST00000222481 human ensembl 74_37 +1 known silent c.42 p.G14 0.786 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA2 HGNC ENSG00000158516 tier1 - - 62 0 0.00 72 4 5.26 CRTC3 0 genome.wustl.edu 37 15 91181743 91181743 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 15 91181743 91181743 G A SNP CRTC3 ENST00000268184 human ensembl 74_37 +1 known silent c.1332 p.P444 0.007 NULL NULL - no_errors CRTC3 HGNC ENSG00000140577 20 0 0.00 38 4 9.52 CYTH1 0 genome.wustl.edu 37 17 76672223 76672223 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 76672223 76672223 C T SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known missense c.1147 p.E383K 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 tier1 - - 24 0 0.00 27 13 32.50 DCHS1 0 genome.wustl.edu 37 11 6645094 6645094 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 6645094 6645094 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.7813 p.A2605T 0.323 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 42 0 0.00 38 4 9.52 DDX54 0 genome.wustl.edu 37 12 113603800 113603800 + Silent SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 113603800 113603800 T C SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known silent c.1452 p.P484 0.243 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,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,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 tier1 - - 76 0 0.00 80 5 5.88 DFFB 0 genome.wustl.edu 37 1 3782553 3782553 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 3782553 3782553 C T SNP DFFB ENST00000378209 human ensembl 74_37 +1 known missense c.419 p.P140L 0.014 pfam_Apoptosis_DFF40 pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 tier1 - - 133 0 0.00 84 46 35.38 DHX8 0 genome.wustl.edu 37 17 41571170 41571170 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 41571170 41571170 C T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known silent c.1128 p.V376 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 51 0 0.00 48 25 34.25 DNAH5 0 genome.wustl.edu 37 5 13692122 13692122 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 13692122 13692122 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.13846 p.G4616R 1.000 pfam_Dynein_heavy_dom 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 DNAH5 HGNC ENSG00000039139 tier1 - - 39 0 0.00 37 18 32.73 DNAH5 0 genome.wustl.edu 37 5 13793738 13793738 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 13793738 13793738 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8110 p.A2704T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 46 0 0.00 86 5 5.49 DRC1 0 genome.wustl.edu 37 2 26672862 26672862 + Splice_Site SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 26672862 26672862 A T SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known splice_site c.1510-2 e12-2 1.000 - - - no_errors DRC1 HGNC ENSG00000157856 tier1 - - 46 0 0.00 30 22 42.31 DST 0 genome.wustl.edu 37 6 56417955 56417955 + Missense_Mutation SNP T T A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 56417955 56417955 T A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.15542 p.Q5181L 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 54 0 0.00 53 4 6.90 DTNBP1 0 genome.wustl.edu 37 6 15533520 15533520 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 15533520 15533520 G A SNP DTNBP1 ENST00000355917 human ensembl 74_37 -1 known silent c.621 p.D207 1.000 pfam_Dysbindin pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 tier1 - - 48 0 0.00 47 22 31.88 DYNLT3 0 genome.wustl.edu 37 X 37700359 37700359 + Splice_Site SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 37700359 37700359 C A SNP DYNLT3 ENST00000378581 human ensembl 74_37 -1 known splice_site c.197-1 e4-1 1.000 - - - no_errors DYNLT3 HGNC ENSG00000165169 tier1 - - 59 0 0.00 58 4 6.45 ECI1 0 genome.wustl.edu 37 16 2293218 2293218 + Missense_Mutation SNP C C G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 2293218 2293218 C G SNP ECI1 ENST00000301729 human ensembl 74_37 -1 known missense c.571 p.D191H 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECI1 HGNC ENSG00000167969 tier1 - - 71 0 0.00 56 33 37.08 EEF2K 0 genome.wustl.edu 37 16 22295238 22295238 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 22295238 22295238 C T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known missense c.2099 p.A700V 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 tier1 - - 57 0 0.00 89 5 5.32 EIF5B 0 genome.wustl.edu 37 2 99977973 99977973 + Missense_Mutation SNP T T A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 99977973 99977973 T A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.609 p.N203K 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 38 0 0.00 44 4 8.33 ELOVL6 0 genome.wustl.edu 37 4 110972735 110972735 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 110972735 110972735 G T SNP ELOVL6 ENST00000394607 human ensembl 74_37 -1 known missense c.557 p.A186E 0.956 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL6 HGNC ENSG00000170522 tier1 - - 50 0 0.00 32 20 38.46 ELP6 0 genome.wustl.edu 37 3 47545863 47545863 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 47545863 47545863 C T SNP ELP6 ENST00000296149 human ensembl 74_37 -1 known missense c.280 p.V94I 0.985 pfam_UPF0405 pfam_UPF0405 - no_errors ELP6 HGNC ENSG00000163832 tier1 - - 37 0 0.00 31 18 36.73 ENSG00000161103 0 genome.wustl.edu 37 22 18844883 18844883 + RNA SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 22 18844883 18844883 C T SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 348 0 0.00 348 37 9.61 ENSG00000177553 0 genome.wustl.edu 37 1 11837351 11837351 + RNA SNP G G C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 11837351 11837351 G C SNP ENSG00000177553 ENST00000376620 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-56N19.5 Clone_based_vega_gene ENSG00000177553 tier1 - - 52 0 0.00 62 4 6.06 ENSG00000185710 0 genome.wustl.edu 37 16 21916099 21916099 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 21916099 21916099 G A SNP ENSG00000185710 ENST00000517529 human ensembl 74_37 -1 known rna NULL NULL 0.232 - - - no_errors RP11-645C24.2 Clone_based_vega_gene ENSG00000185710 tier1 - - 64 0 0.00 37 24 39.34 ENSG00000205611 0 genome.wustl.edu 37 20 29516303 29516303 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 20 29516303 29516303 G A SNP ENSG00000205611 ENST00000380888 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-610C12.4 Clone_based_vega_gene ENSG00000205611 tier1 - - 12 0 0.00 10 6 37.50 ENSG00000214733 0 genome.wustl.edu 37 8 144872406 144872406 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 144872406 144872406 G A SNP ENSG00000214733 ENST00000527139 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-429J17.8 Clone_based_vega_gene ENSG00000214733 tier1 - - 40 0 0.00 70 21 23.08 ENSG00000221418 0 genome.wustl.edu 37 7 125680343 125680343 + RNA SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 125680343 125680343 G T SNP ENSG00000221418 ENST00000408491 human ensembl 74_37 +1 novel rna NULL NULL 0.063 - - - no_errors AC003968.1 Clone_based_ensembl_gene ENSG00000221418 tier1 - - 47 0 0.00 57 24 29.63 ENSG00000223759 0 genome.wustl.edu 37 1 149673265 149673265 + RNA SNP C C G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 149673265 149673265 C G SNP ENSG00000223759 ENST00000443602 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-353N4.4 Clone_based_vega_gene ENSG00000223759 tier1 - - 11 0 0.00 11 5 31.25 ENSG00000234277 0 genome.wustl.edu 37 1 227618722 227618722 + RNA DEL A A - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 227618722 227618722 A - DEL ENSG00000234277 ENST00000445817 human ensembl 74_37 +1 known rna NULL NULL 0.163 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 tier1 14 0 0.00 9 3 25.00 ENSG00000237357 0 genome.wustl.edu 37 9 44401879 44401879 + RNA SNP A A C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 9 44401879 44401879 A C SNP ENSG00000237357 ENST00000428895 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-475I24.3 Clone_based_vega_gene ENSG00000237357 tier1 - - 98 0 0.00 74 16 17.78 ENSG00000244306 0 genome.wustl.edu 37 14 19856372 19856372 + RNA SNP A A G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 14 19856372 19856372 A G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 23 0 0.00 35 4 10.26 ENSG00000257743 0 genome.wustl.edu 37 7 141831824 141831824 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 141831824 141831824 G A SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.514 p.V172M 0.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 55 0 0.00 48 23 32.39 ENSG00000259721 0 genome.wustl.edu 37 15 33010353 33010353 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 15 33010353 33010353 G A SNP ENSG00000259721 ENST00000558441 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-758N13.1 Clone_based_vega_gene ENSG00000259721 tier1 - - 15 0 0.00 14 5 26.32 ENSG00000272918 0 genome.wustl.edu 37 7 104745797 104745797 + RNA SNP A A G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 104745797 104745797 A G SNP ENSG00000272918 ENST00000607968 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-152G17.6 Clone_based_vega_gene ENSG00000272918 tier1 - - 30 0 0.00 18 9 33.33 ERBB2IP 0 genome.wustl.edu 37 5 65338949 65338949 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 65338949 65338949 G A SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known missense c.1351 p.E451K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 tier1 - - 61 0 0.00 57 29 33.72 ERN2 0 genome.wustl.edu 37 16 23712332 23712332 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 23712332 23712332 G A SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.1451 p.A484V 0.585 NULL pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 - - 46 0 0.00 49 4 7.55 FAM138D 0 genome.wustl.edu 37 12 148811 148811 + RNA SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 148811 148811 G T SNP FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.177 - - - no_errors FAM138D HGNC ENSG00000206114 38 0 0.00 65 5 7.14 FAM13B 0 genome.wustl.edu 37 5 137289026 137289026 + Missense_Mutation SNP T T A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 137289026 137289026 T A SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.1781 p.K594M 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 tier1 - - 55 0 0.00 61 4 6.15 FANK1 0 genome.wustl.edu 37 10 127677338 127677338 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 127677338 127677338 C T SNP FANK1 ENST00000449042 human ensembl 74_37 +1 known missense c.392 p.T131I 0.000 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FANK1 HGNC ENSG00000203780 tier1 - - 17 0 0.00 8 6 42.86 FAXC 0 genome.wustl.edu 37 6 99729215 99729215 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 99729215 99729215 C T SNP FAXC ENST00000389677 human ensembl 74_37 -1 known missense c.1055 p.S352N 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 15 0 0.00 32 3 8.57 FGA 0 genome.wustl.edu 37 4 155505987 155505988 + Splice_Site INS - - A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 155505987 155505988 - A INS FGA ENST00000302053 human ensembl 74_37 -1 known splice_site_ins c.1892-3_1892-2 e6-2 1.000:1.000 - - - no_errors FGA HGNC ENSG00000171560 tier1 37 0 0.00 30 2 6.25 FHOD3 0 genome.wustl.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 18 34261459 34261460 AG - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1371_1372 p.R461fs 0.879:1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 49 0 0.00 50 6 10.71 FMO1 0 genome.wustl.edu 37 1 171247904 171247904 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 171247904 171247904 G T SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known missense c.521 p.R174L 0.963 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 43 0 0.00 36 2 5.26 FREM2 0 genome.wustl.edu 37 13 39358714 39358714 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 13 39358714 39358714 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.5788 p.P1930S 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 18 0 0.00 38 5 11.63 FSD1 0 genome.wustl.edu 37 19 4323073 4323073 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 4323073 4323073 G T SNP FSD1 ENST00000221856 human ensembl 74_37 +1 known missense c.1130 p.S377I 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD1 HGNC ENSG00000105255 tier1 - - 56 0 0.00 42 15 26.32 GAB3 0 genome.wustl.edu 37 X 153925438 153925438 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 153925438 153925438 C T SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known missense c.1396 p.A466T 0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 tier1 - - 47 0 0.00 40 4 9.09 GABRB1 0 genome.wustl.edu 37 4 47408862 47408862 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 47408862 47408862 G T SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known silent c.999 p.G333 0.750 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 tier1 - - 36 0 0.00 47 4 7.69 GALNTL5 0 genome.wustl.edu 37 7 151716773 151716773 + Missense_Mutation SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 151716773 151716773 T C SNP GALNTL5 ENST00000392800 human ensembl 74_37 +1 known missense c.1219 p.Y407H 0.883 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 tier1 - - 40 0 0.00 51 8 13.56 GCC2 0 genome.wustl.edu 37 2 109087535 109087535 + Nonsense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 109087535 109087535 G T SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known nonsense c.1750 p.E584* 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 35 0 0.00 33 2 5.71 GDI2 0 genome.wustl.edu 37 10 5808472 5808472 + Missense_Mutation SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 5808472 5808472 T C SNP GDI2 ENST00000380132 human ensembl 74_37 -1 known missense c.1133 p.E378G 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 tier1 - - 51 0 0.00 52 4 7.14 GEMIN7 0 genome.wustl.edu 37 19 45593410 45593410 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 45593410 45593410 G A SNP GEMIN7 ENST00000270257 human ensembl 74_37 +1 known missense c.38 p.R13Q 1.000 NULL pfam_SMN_gemin7 - no_errors GEMIN7 HGNC ENSG00000142252 tier1 - - 85 0 0.00 48 36 42.86 GLRB 0 genome.wustl.edu 37 4 158073901 158073901 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 158073901 158073901 G T SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.936 p.E312D 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 tier1 - - 58 0 0.00 64 4 5.88 GOLGA3 0 genome.wustl.edu 37 12 133351713 133351713 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 133351713 133351713 G A SNP GOLGA3 ENST00000456883 human ensembl 74_37 -1 known missense c.4157 p.A1386V 0.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 17 0 0.00 12 6 33.33 GPR132 0 genome.wustl.edu 37 14 105518385 105518385 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 14 105518385 105518385 G T SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known missense c.89 p.A30D 0.000 NULL pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 50 0 0.00 65 4 5.80 GPR26 0 genome.wustl.edu 37 10 125426291 125426291 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 125426291 125426291 C T SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.368 p.A123V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 tier1 - - 13 0 0.00 11 10 47.62 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 72664015 72664015 C G SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 12 0 0.00 9 5 35.71 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 72664015 72664016 0 G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 12 0 0.00 11 3 21.43 HDGFL1 0 genome.wustl.edu 37 6 22570346 22570347 + In_Frame_Ins INS - - GGC TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 22570346 22570347 - GGC INS HDGFL1 ENST00000230012 human ensembl 74_37 +1 known in_frame_ins c.542_543 p.185in_frame_insA 0.000:0.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFL1 HGNC ENSG00000112273 tier1 13 0 0.00 6 4 40.00 HDLBP 0 genome.wustl.edu 37 2 242170211 242170211 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 242170211 242170211 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.3437 p.R1146H 0.951 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 59 0 0.00 47 9 16.07 HGFAC 0 genome.wustl.edu 37 4 3443800 3443800 + Silent SNP G G C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 3443800 3443800 G C SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.72 p.L24 0.998 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 - - 37 0 0.00 50 6 10.71 HIBCH 0 genome.wustl.edu 37 2 191175496 191175496 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 191175496 191175496 G T SNP HIBCH ENST00000359678 human ensembl 74_37 -1 known missense c.62 p.T21N 0.676 NULL pfam_Crotonase_core_superfam - no_errors HIBCH HGNC ENSG00000198130 78 0 0.00 76 4 5.00 HLA-B 0 genome.wustl.edu 37 6 31323325 31323325 + Nonsense_Mutation SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 31323325 31323325 C A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known nonsense c.664 p.E222* 0.028 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 - - 92 0 0.00 79 38 32.48 HTRA3 0 genome.wustl.edu 37 4 8295892 8295892 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 8295892 8295892 C T SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known missense c.1015 p.R339W 0.360 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 38 0 0.00 36 3 7.69 HYOU1 0 genome.wustl.edu 37 11 118925330 118925330 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 118925330 118925330 C T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.554 p.R185H 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 35 0 0.00 46 4 8.00 IFI44L 0 genome.wustl.edu 37 1 79093944 79093944 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 79093944 79093944 G T SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.344 p.R115L 0.000 NULL superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 58 0 0.00 56 3 5.08 IFNGR1 0 genome.wustl.edu 37 6 137522074 137522074 + Frame_Shift_Del DEL A A - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 137522074 137522074 A - DEL IFNGR1 ENST00000367739 human ensembl 74_37 -1 known frame_shift_del c.805 p.Y269fs 0.000 pfam_Interferon_gamma_pox/mammal pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 tier1 46 0 0.00 27 24 47.06 IL7 0 genome.wustl.edu 37 8 79710313 79710313 + Silent SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 79710313 79710313 T C SNP IL7 ENST00000263851 human ensembl 74_37 -1 known silent c.141 p.Q47 0.005 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7 - no_errors IL7 HGNC ENSG00000104432 tier1 - - 22 0 0.00 28 7 20.00 IRS4 0 genome.wustl.edu 37 X 107976167 107976167 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 107976167 107976167 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.3408 p.A1136 0.019 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 42 0 0.00 34 11 24.44 ITGA9 0 genome.wustl.edu 37 3 37821442 37821442 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 37821442 37821442 G T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.2717 p.S906I 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 25 0 0.00 42 4 8.70 KCNAB2 0 genome.wustl.edu 37 1 6157447 6157447 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 6157447 6157447 G T SNP KCNAB2 ENST00000602612 human ensembl 74_37 +1 putative missense c.1044 p.R348S 0.007 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 tier1 - - 44 0 0.00 43 4 8.51 KCNB2 0 genome.wustl.edu 37 8 73480515 73480515 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 73480515 73480515 G T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.546 p.L182F 1.000 prints_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 tier1 - - 39 0 0.00 54 20 27.03 KDM3A 0 genome.wustl.edu 37 2 86705840 86705840 + Silent SNP A A G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 86705840 86705840 A G SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.2298 p.S766 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 53 0 0.00 57 3 5.00 KDM3B 0 genome.wustl.edu 37 5 137759943 137759943 + Missense_Mutation SNP G G C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 137759943 137759943 G C SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.4152 p.W1384C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 54 0 0.00 53 37 41.11 KIAA0408 0 genome.wustl.edu 37 6 127770975 127770975 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 127770975 127770975 G T SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.570 p.N190K 0.996 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 tier1 - - 34 0 0.00 49 4 7.55 KIAA1109 0 genome.wustl.edu 37 4 123147861 123147861 + Splice_Site SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 123147861 123147861 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known splice_site c.2794-1 e22-1 1.000 - - - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 44 0 0.00 27 25 48.08 KIAA1191 0 genome.wustl.edu 37 5 175775305 175775305 + Missense_Mutation SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 175775305 175775305 C A SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known missense c.514 p.A172S 0.422 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 tier1 - - 76 0 0.00 65 10 13.33 KIAA1407 0 genome.wustl.edu 37 3 113684161 113684161 + Frame_Shift_Del DEL T T - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 113684161 113684161 T - DEL KIAA1407 ENST00000295878 human ensembl 74_37 -1 known frame_shift_del c.2652 p.K884fs 0.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 25 0 0.00 38 2 5.00 KIAA1549 0 genome.wustl.edu 37 7 138603524 138603524 + Nonsense_Mutation SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 138603524 138603524 A T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known nonsense c.848 p.L283* 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 18 0 0.00 17 11 39.29 KIAA1683 0 genome.wustl.edu 37 19 18368333 18368333 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 18368333 18368333 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.3761 p.R1254H 0.997 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 22 0 0.00 22 3 12.00 KIAA2022 0 genome.wustl.edu 37 X 73960195 73960195 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 73960195 73960195 G T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4197 p.S1399R 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 40 0 0.00 46 26 36.11 KIF24 0 genome.wustl.edu 37 9 34306372 34306372 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 9 34306372 34306372 G T SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.691 p.R231S 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 28 0 0.00 29 2 6.45 KMT2A 0 genome.wustl.edu 37 11 118343016 118343017 + Frame_Shift_Ins INS - - G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 118343016 118343017 - G INS KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_ins c.1142_1143 p.A383fs 1.000:1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 27 0 0.00 16 6 27.27 KMT2A 0 genome.wustl.edu 37 11 118348808 118348808 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 118348808 118348808 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.3461 p.R1154Q 1.000 pfam_Znf_CXXC,pirsf_MeTrfase_trithorax,pfscan_Znf_CXXC pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 62 0 0.00 28 19 40.43 KMT2D 0 genome.wustl.edu 37 12 49425503 49425503 + Nonsense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 49425503 49425503 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.12985 p.Q4329* 0.985 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 53 0 0.00 46 14 22.58 KRT5 0 genome.wustl.edu 37 12 52910941 52910941 + Missense_Mutation SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 52910941 52910941 T C SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known missense c.1168 p.N390D 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 16 0 0.00 34 9 20.93 KRT85 0 genome.wustl.edu 37 12 52757174 52757174 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 52757174 52757174 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.807 p.A269 0.959 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 34 0 0.00 43 26 37.68 KRTAP2-3 0 genome.wustl.edu 37 17 39216185 39216185 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 39216185 39216185 C T SNP KRTAP2-3 ENST00000391418 human ensembl 74_37 -1 known missense c.118 p.V40M 1.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP2-3 HGNC ENSG00000212724 tier1 - - 42 0 0.00 39 25 39.06 LAIR2 0 genome.wustl.edu 37 19 55020248 55020248 + Missense_Mutation SNP G G C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 55020248 55020248 G C SNP LAIR2 ENST00000301202 human ensembl 74_37 +1 known missense c.368 p.S123T 0.001 NULL smart_Ig_sub - no_errors LAIR2 HGNC ENSG00000167618 49 0 0.00 53 4 7.02 LHCGR 0 genome.wustl.edu 37 2 48914886 48914886 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 48914886 48914886 G T SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.2050 p.H684N 0.053 prints_LSH_rcpt pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 47 0 0.00 37 2 5.13 LOC100505501 0 genome.wustl.edu 37 8 60031650 60031650 + RNA SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 60031650 60031650 G T SNP LOC100505501 ENST00000523683 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-25K19.1 Clone_based_vega_gene ENSG00000167912 tier1 - - 13 0 0.00 16 6 27.27 LOC100505989 0 genome.wustl.edu 37 4 165722353 165722353 + RNA SNP A A G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 165722353 165722353 A G SNP LOC100505989 ENST00000507311 human ensembl 74_37 +1 known rna NULL NULL 0.041 - - - no_errors RP11-294O2.2 Clone_based_vega_gene ENSG00000248771 tier1 - - 38 0 0.00 50 4 7.41 LOC728715 0 genome.wustl.edu 37 12 9728362 9728362 + RNA SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 9728362 9728362 G T SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.088 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 tier1 - - 72 0 0.00 64 31 32.63 LOC728715 0 genome.wustl.edu 37 12 9728368 9728368 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 9728368 9728368 G A SNP LOC728715 ENST00000520314 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors RP11-726G1.1 Clone_based_vega_gene ENSG00000214776 tier1 - - 70 0 0.00 59 31 34.44 LRP12 0 genome.wustl.edu 37 8 105509702 105509702 + Missense_Mutation SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 105509702 105509702 T C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1021 p.N341D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 33 0 0.00 68 4 5.56 LRPPRC 0 genome.wustl.edu 37 2 44190729 44190729 + Nonsense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 44190729 44190729 G A SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known nonsense c.1486 p.Q496* 0.998 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 42 0 0.00 51 4 7.27 LRRC4C 0 genome.wustl.edu 37 11 40137317 40137317 + Nonsense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 40137317 40137317 G A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known nonsense c.526 p.R176* 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 30 0 0.00 26 13 33.33 LRRC66 0 genome.wustl.edu 37 4 52861635 52861635 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 52861635 52861635 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1553 p.R518H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 39 0 0.00 35 3 7.89 LRRK1 0 genome.wustl.edu 37 15 101554585 101554585 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 15 101554585 101554585 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.1484 p.T495I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 26 0 0.00 34 4 10.53 MAGEC1 0 genome.wustl.edu 37 X 140993740 140993740 + Nonsense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 140993740 140993740 G T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known nonsense c.550 p.E184* 0.100 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 151 0 0.00 213 61 22.26 MAGI3 0 genome.wustl.edu 37 1 114184871 114184871 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 114184871 114184871 G A SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.1699 p.A567T 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 tier1 - - 39 0 0.00 66 4 5.71 MECP2 0 genome.wustl.edu 37 X 153295833 153295833 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 153295833 153295833 G A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known silent c.1446 p.T482 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 tier1 rs76895094 - 53 0 0.00 50 26 34.21 METTL4 0 genome.wustl.edu 37 18 2563854 2563854 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 18 2563854 2563854 C T SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.401 p.R134H 0.986 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 27 0 0.00 20 2 9.09 MGAM 0 genome.wustl.edu 37 7 141764224 141764224 + Silent SNP T T G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 141764224 141764224 T G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.4386 p.L1462 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 61 0 0.00 36 28 43.75 MGAM 0 genome.wustl.edu 37 7 141764227 141764227 + Silent SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 141764227 141764227 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.4389 p.C1463 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 rs3087317 - 59 0 0.00 36 29 44.62 MLIP 0 genome.wustl.edu 37 6 54122159 54122159 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 54122159 54122159 G T SNP MLIP ENST00000274897 human ensembl 74_37 +1 known missense c.1371 p.E457D 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 tier1 - - 67 0 0.00 69 4 5.48 MPP4 0 genome.wustl.edu 37 2 202552060 202552060 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 202552060 202552060 G T SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.314 p.P105H 0.518 pfam_L27_C,smart_L27,pfscan_L27 pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 tier1 - - 53 0 0.00 72 4 5.26 MT-RNR2 0 genome.wustl.edu 37 MT 2701 2701 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 MT 2701 2701 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 716 0 0.00 1315 185 12.33 MTF1 0 genome.wustl.edu 37 1 38280975 38280975 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 38280975 38280975 G T SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known silent c.2095 p.R699 0.982 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 28 0 0.00 67 4 5.63 MUC17 0 genome.wustl.edu 37 7 100676006 100676006 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 100676006 100676006 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.1309 p.A437S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 49 0 0.00 84 16 16.00 MUC2 0 genome.wustl.edu 37 11 1096386 1096386 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 1096386 1096386 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.6411 p.Y2137 0.997 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 37 0 0.00 36 2 5.26 MYSM1 0 genome.wustl.edu 37 1 59131214 59131214 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 59131214 59131214 G T SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known silent c.2121 p.T707 1.000 smart_JAB_MPN_dom pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 tier1 - - 68 0 0.00 60 4 6.25 NBN 0 genome.wustl.edu 37 8 90949256 90949256 + Frame_Shift_Del DEL A A - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 90949256 90949256 A - DEL NBN ENST00000265433 human ensembl 74_37 -1 known frame_shift_del c.2232 p.F744fs 1.000 pfam_DNA-repair_Nbs1_C,pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 tier1 39 0 0.00 49 9 15.52 NCAM2 0 genome.wustl.edu 37 21 22658646 22658646 + Missense_Mutation SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 21 22658646 22658646 C A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.395 p.A132E 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Neural_cell_adh pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 29 0 0.00 29 4 12.12 NFKBIZ 0 genome.wustl.edu 37 3 101574724 101574724 + Missense_Mutation SNP T T A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 101574724 101574724 T A SNP NFKBIZ ENST00000326172 human ensembl 74_37 +1 known missense c.1802 p.M601K 1.000 superfamily_Ankyrin_rpt-contain_dom,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 NFKBIZ HGNC ENSG00000144802 tier1 - - 60 0 0.00 60 4 6.25 NHLRC2 0 genome.wustl.edu 37 10 115668044 115668044 + Nonsense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 115668044 115668044 G T SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known nonsense c.1930 p.E644* 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 31 0 0.00 44 4 8.33 NHLRC3 0 genome.wustl.edu 37 13 39622028 39622028 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 13 39622028 39622028 C T SNP NHLRC3 ENST00000379600 human ensembl 74_37 +1 known missense c.1009 p.P337S 0.648 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 tier1 - - 20 0 0.00 14 7 33.33 NLRC3 0 genome.wustl.edu 37 16 3613041 3613041 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 3613041 3613041 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.2038 p.L680 1.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 96 0 0.00 70 4 5.33 NLRC5 0 genome.wustl.edu 37 16 57060578 57060581 + Frame_Shift_Del DEL CCCT CCCT - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 CCCT CCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 57060578 57060581 CCCT - DEL NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_del c.1723_1726 p.P575fs 0.001:0.047:0.060:0.978 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 35 0 0.00 9 6 40.00 NOLC1 0 genome.wustl.edu 37 10 103912168 103912168 + Missense_Mutation SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 103912168 103912168 A T SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.1 p.M1L 0.982 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 tier1 - - 62 0 0.00 44 14 24.14 NOTCH3 0 genome.wustl.edu 37 19 15281251 15281251 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 15281251 15281251 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5005 p.R1669C 1.000 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 23 0 0.00 19 13 40.62 NOVA1 0 genome.wustl.edu 37 14 27064755 27064755 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 14 27064755 27064755 G A SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known silent c.141 p.D47 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 31 0 0.00 34 2 5.56 NRG1 0 genome.wustl.edu 37 8 32621513 32621513 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 32621513 32621513 G A SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1540 p.A514T 0.039 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 45 0 0.00 68 22 24.44 NSD1 0 genome.wustl.edu 37 5 176694593 176694593 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 176694593 176694593 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.5177 p.P1726L 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 25 0 0.00 18 21 53.85 NSD1 0 genome.wustl.edu 37 5 176709465 176709465 + Splice_Site SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 176709465 176709465 G A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known splice_site c.5893-1 e18-1 1.000 - - - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 44 0 0.00 47 24 33.80 NUB1 0 genome.wustl.edu 37 7 151065005 151065005 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 151065005 151065005 G A SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known missense c.1118 p.R373Q 0.909 superfamily_UBA-like pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 tier1 - - 31 0 0.00 34 15 30.61 NUP160 0 genome.wustl.edu 37 11 47801978 47801978 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 47801978 47801978 G A SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.4138 p.P1380S 0.953 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 46 0 0.00 56 4 6.67 OGFR 0 genome.wustl.edu 37 20 61444312 61444312 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 20 61444312 61444312 G T SNP OGFR ENST00000290291 human ensembl 74_37 +1 known missense c.1345 p.A449S 0.000 NULL pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 tier1 - - 31 0 0.00 26 4 13.33 OR1D4 0 genome.wustl.edu 37 17 3144529 3144529 + RNA SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 3144529 3144529 T C SNP OR1D4 ENST00000531680 human ensembl 74_37 +1 known rna NULL NULL 0.148 - - - no_errors OR1D4 HGNC ENSG00000255095 tier1 - - 23 0 0.00 13 16 55.17 OR2T11 0 genome.wustl.edu 37 1 248790145 248790145 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 248790145 248790145 G T SNP OR2T11 ENST00000330803 human ensembl 74_37 -1 known silent c.285 p.G95 0.828 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 52 0 0.00 57 3 5.00 OR4S1 0 genome.wustl.edu 37 11 48328641 48328641 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 48328641 48328641 C T SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known silent c.867 p.N289 0.010 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 tier1 - - 26 0 0.00 25 4 13.79 OR6A2 0 genome.wustl.edu 37 11 6816277 6816277 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 6816277 6816277 G T SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known silent c.663 p.A221 0.050 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 OR6A2 HGNC ENSG00000184933 tier1 - - 20 0 0.00 15 8 34.78 PCDH20 0 genome.wustl.edu 37 13 61987736 61987736 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 13 61987736 61987736 C T SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.496 p.V166I 0.997 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 47 0 0.00 36 21 36.84 PCDHGA6 0 genome.wustl.edu 37 5 140755131 140755131 + Missense_Mutation SNP A A G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 140755131 140755131 A G SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.1481 p.D494G 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 56 0 0.00 62 4 6.06 PDZD7 0 genome.wustl.edu 37 10 102789899 102789899 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 102789899 102789899 G A SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known silent c.78 p.S26 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 tier1 - - 111 0 0.00 68 40 37.04 PGD 0 genome.wustl.edu 37 1 10468184 10468184 + Missense_Mutation SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 10468184 10468184 C A SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.506 p.P169H 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 26 0 0.00 43 4 8.51 PHKA2 0 genome.wustl.edu 37 X 18915365 18915365 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 18915365 18915365 C T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known silent c.3198 p.Q1066 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 54 0 0.00 52 4 7.14 PKHD1L1 0 genome.wustl.edu 37 8 110493751 110493751 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 110493751 110493751 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.9417 p.W3139C 1.000 pfam_G8_domain pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 61 0 0.00 75 4 5.06 PKP4 0 genome.wustl.edu 37 2 159488428 159488428 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 159488428 159488428 G A SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known silent c.1317 p.Q439 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 35 0 0.00 46 22 32.35 PMP2 0 genome.wustl.edu 37 8 82359617 82359617 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 82359617 82359617 C T SNP PMP2 ENST00000256103 human ensembl 74_37 -1 known missense c.5 p.S2N 1.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors PMP2 HGNC ENSG00000147588 tier1 - - 47 0 0.00 74 4 5.13 POSTN 0 genome.wustl.edu 37 13 38137315 38137316 + RNA INS - - A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 13 38137315 38137316 - A INS POSTN ENST00000478947 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.028 - - - no_errors POSTN HGNC ENSG00000133110 tier1 15 0 0.00 21 2 8.70 PPFIA2 0 genome.wustl.edu 37 12 81839369 81839369 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 81839369 81839369 G T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.536 p.S179Y 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 79 0 0.00 59 16 21.33 PPP1R18 0 genome.wustl.edu 37 6 30653411 30653411 + Missense_Mutation SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 30653411 30653411 T C SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known missense c.385 p.M129V 0.023 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 tier1 - - 48 0 0.00 31 23 42.59 PPP5C 0 genome.wustl.edu 37 19 46857022 46857022 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 46857022 46857022 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.139 p.A47T 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 27 0 0.00 25 2 7.41 PRKD2 0 genome.wustl.edu 37 19 47178336 47178336 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 47178336 47178336 C T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.2378 p.R793H 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,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 22 0 0.00 31 2 6.06 PRKDC 0 genome.wustl.edu 37 8 48773474 48773474 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 48773474 48773474 G T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.6041 p.A2014E 0.187 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 43 0 0.00 76 4 5.00 PROB1 0 genome.wustl.edu 37 5 138729895 138729895 + Silent SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 138729895 138729895 C A SNP PROB1 ENST00000434752 human ensembl 74_37 -1 known silent c.876 p.L292 0.019 NULL NULL - no_errors PROB1 HGNC ENSG00000228672 tier1 - - 163 0 0.00 125 74 37.19 PRPF3 0 genome.wustl.edu 37 1 150318310 150318310 + RNA SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 150318310 150318310 T C SNP PRPF3 ENST00000476970 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRPF3 HGNC ENSG00000117360 tier1 - - 9 0 0.00 7 7 50.00 PTEN 0 genome.wustl.edu 37 10 89717619 89717619 + Missense_Mutation SNP T T G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 89717619 89717619 T G SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.644 p.F215C 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 - - 71 0 0.00 53 30 36.14 PTPN3 0 genome.wustl.edu 37 9 112225697 112225697 + Silent SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 9 112225697 112225697 A T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known silent c.18 p.R6 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 tier1 - - 58 0 0.00 51 4 7.27 RBM10 0 genome.wustl.edu 37 X 47040705 47040705 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 X 47040705 47040705 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.1340 p.S447N 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 - - 48 0 0.00 64 4 5.88 RC3H1 0 genome.wustl.edu 37 1 173931047 173931047 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 173931047 173931047 C T SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known missense c.2018 p.R673H 0.991 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 49 0 0.00 56 3 5.08 RHD 0 genome.wustl.edu 37 1 25611165 25611165 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 25611165 25611165 C T SNP RHD ENST00000328664 human ensembl 74_37 +1 known silent c.250 p.L84 0.877 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 tier1 - - 35 0 0.00 39 4 9.30 RHOBTB1 0 genome.wustl.edu 37 10 62631234 62631234 + RNA SNP T T G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 10 62631234 62631234 T G SNP RHOBTB1 ENST00000461910 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors RHOBTB1 HGNC ENSG00000072422 tier1 - - 24 0 0.00 28 9 24.32 RNPEPL1 0 genome.wustl.edu 37 2 241515026 241515026 + Silent SNP A A G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 241515026 241515026 A G SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known silent c.816 p.A272 1.000 NULL pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 tier1 - - 41 0 0.00 48 4 7.69 RTTN 0 genome.wustl.edu 37 18 67869157 67869157 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 18 67869157 67869157 G T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.460 p.Q154K 0.963 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 - - 72 0 0.00 42 30 41.67 RYR1 0 genome.wustl.edu 37 19 39028578 39028578 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 39028578 39028578 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.11667 p.L3889F 1.000 pfam_RIH_assoc-dom 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 43 0 0.00 37 23 37.70 SACS 0 genome.wustl.edu 37 13 23906661 23906661 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 13 23906661 23906661 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.11354 p.R3785K 0.980 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 48 0 0.00 32 2 5.88 SEMA6A 0 genome.wustl.edu 37 5 115827448 115827448 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 115827448 115827448 C T SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.523 p.A175T 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 27 0 0.00 50 3 5.66 SH3GL3 0 genome.wustl.edu 37 15 84237334 84237334 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 15 84237334 84237334 G A SNP SH3GL3 ENST00000324537 human ensembl 74_37 +1 known missense c.265 p.V89M 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors SH3GL3 HGNC ENSG00000140600 tier1 - - 36 0 0.00 36 11 23.40 SLC25A32 0 genome.wustl.edu 37 8 104427088 104427088 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 104427088 104427088 C T SNP SLC25A32 ENST00000297578 human ensembl 74_37 -1 known silent c.78 p.L26 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 tier1 - - 59 0 0.00 67 19 22.09 SLCO1B1 0 genome.wustl.edu 37 12 21370110 21370110 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 12 21370110 21370110 G T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1555 p.A519S 0.316 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 71 0 0.00 64 19 22.89 SMAD3 0 genome.wustl.edu 37 15 67482843 67482843 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 15 67482843 67482843 C T SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.1247 p.S416F 1.000 superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 tier1 - - 40 0 0.00 35 13 26.53 SMARCA4 0 genome.wustl.edu 37 19 11132513 11132513 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 11132513 11132513 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2729 p.T910M 0.999 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 29 0 0.00 27 9 25.00 SNAI2 0 genome.wustl.edu 37 8 49831433 49831433 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 49831433 49831433 G A SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.740 p.S247F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 tier1 - - 85 0 0.00 88 34 27.87 SNAI3-AS1 0 genome.wustl.edu 37 16 88752673 88752674 + RNA DEL CT CT - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 88752673 88752674 CT - DEL SNAI3-AS1 ENST00000567997 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.012 - - - no_errors SNAI3-AS1 HGNC ENSG00000260630 tier1 17 0 0.00 14 3 17.65 SNCAIP 0 genome.wustl.edu 37 5 121786488 121786488 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 121786488 121786488 C T SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2087 p.S696F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 - - 38 0 0.00 32 18 36.00 SPECC1 0 genome.wustl.edu 37 17 20108050 20108050 + Nonsense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 20108050 20108050 G T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known nonsense c.688 p.E230* 0.962 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 18 0 0.00 29 2 6.45 SPEF2 0 genome.wustl.edu 37 5 35814614 35814614 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 35814614 35814614 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.5428 p.G1810R 0.998 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 44 0 0.00 26 17 39.53 SPSB3 0 genome.wustl.edu 37 16 1827862 1827862 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 1827862 1827862 G A SNP SPSB3 ENST00000301717 human ensembl 74_37 -1 known missense c.607 p.H203Y 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 tier1 - - 60 0 0.00 43 21 32.81 SRL 0 genome.wustl.edu 37 16 4242709 4242709 + Nonsense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 4242709 4242709 G T SNP SRL ENST00000399609 human ensembl 74_37 -1 known nonsense c.867 p.Y289* 0.716 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors SRL HGNC ENSG00000185739 tier1 - - 80 0 0.00 51 41 44.57 SSC5D 0 genome.wustl.edu 37 19 56012123 56012123 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 56012123 56012123 G T SNP SSC5D ENST00000389623 human ensembl 74_37 +1 known missense c.2569 p.G857W 0.989 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SSC5D HGNC ENSG00000179954 tier1 - - 35 0 0.00 18 20 52.63 SSFA2 0 genome.wustl.edu 37 2 182783599 182783599 + Nonsense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 182783599 182783599 G T SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known nonsense c.2983 p.E995* 0.999 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 21 0 0.00 21 2 8.70 SSPO 0 genome.wustl.edu 37 7 149474801 149474801 + RNA SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 149474801 149474801 C A SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 72 0 0.00 45 27 36.49 STAU2 0 genome.wustl.edu 37 8 74581291 74581291 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 74581291 74581291 C T SNP STAU2 ENST00000521419 human ensembl 74_37 -1 putative missense c.351 p.M117I 0.000 NULL NULL - no_errors STAU2 HGNC ENSG00000040341 tier1 - - 236 0 0.00 292 100 24.94 STOML1 0 genome.wustl.edu 37 15 74276440 74276440 + Missense_Mutation SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 15 74276440 74276440 A T SNP STOML1 ENST00000316900 human ensembl 74_37 -1 known missense c.1035 p.D345E 0.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin - no_errors STOML1 HGNC ENSG00000067221 19 0 0.00 24 4 14.29 STXBP5L 0 genome.wustl.edu 37 3 121126164 121126164 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 121126164 121126164 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2734 p.P912S 0.998 pfam_Lgl_C_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 21 0 0.00 26 9 25.71 SYNGR2 0 genome.wustl.edu 37 17 76168023 76168023 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 76168023 76168023 G A SNP SYNGR2 ENST00000588282 human ensembl 74_37 +1 putative missense c.770 p.R257Q 0.000 NULL pfam_Marvel - no_errors SYNGR2 HGNC ENSG00000108639 tier1 - - 36 0 0.00 28 16 36.36 TBX2 0 genome.wustl.edu 37 17 59486690 59486690 + RNA SNP A A G TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 17 59486690 59486690 A G SNP TBX2 ENST00000586986 human ensembl 74_37 +1 known rna NULL NULL 0.546 - - - no_errors TBX2 HGNC ENSG00000121068 tier1 - - 26 0 0.00 21 7 25.00 TDRKH 0 genome.wustl.edu 37 1 151748932 151748932 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 151748932 151748932 G T SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known missense c.1027 p.H343N 0.984 pfam_Tudor pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 tier1 - - 39 0 0.00 33 18 35.29 TGFBR2 0 genome.wustl.edu 37 3 30732976 30732976 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 3 30732976 30732976 C T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1664 p.T555I 1.000 pirsf_Transform_growth_fac-b_typ-2,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 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 50 0 0.00 29 22 43.14 TMEM150C 0 genome.wustl.edu 37 4 83406788 83406788 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 83406788 83406788 C T SNP TMEM150C ENST00000449862 human ensembl 74_37 -1 known missense c.626 p.G209D 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150C HGNC ENSG00000249242 tier1 - - 40 0 0.00 51 4 7.27 TMEM252 0 genome.wustl.edu 37 9 71155464 71155464 + Silent SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 9 71155464 71155464 G A SNP TMEM252 ENST00000377311 human ensembl 74_37 -1 known silent c.267 p.A89 0.150 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 tier1 - - 21 0 0.00 14 7 33.33 TMEM63B 0 genome.wustl.edu 37 6 44102778 44102778 + Missense_Mutation SNP C C A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 44102778 44102778 C A SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.184 p.L62I 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 tier1 - - 29 0 0.00 36 4 10.00 TPP1 0 genome.wustl.edu 37 11 6640117 6640117 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 6640117 6640117 C T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known missense c.119 p.R40H 1.000 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 26 0 0.00 38 3 7.32 TRIM66 0 genome.wustl.edu 37 11 8662484 8662484 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 8662484 8662484 G T SNP TRIM66 ENST00000299550 human ensembl 74_37 -1 known missense c.1003 p.Q335K 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Znf_PHD,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors TRIM66 HGNC ENSG00000166436 tier1 - - 22 0 0.00 21 12 36.36 TTN 0 genome.wustl.edu 37 2 179504469 179504469 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 179504469 179504469 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.33129 p.P11043 0.015 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 51 0 0.00 71 4 5.33 UNC5A 0 genome.wustl.edu 37 5 176289624 176289624 + Splice_Site SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 176289624 176289624 G T SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known splice_site c.71-1 e2-1 1.000 - - - no_errors UNC5A HGNC ENSG00000113763 40 0 0.00 42 3 6.67 VAX2 0 genome.wustl.edu 37 2 71160034 71160034 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 71160034 71160034 G T SNP VAX2 ENST00000234392 human ensembl 74_37 +1 known silent c.573 p.L191 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 tier1 - - 70 0 0.00 45 26 36.62 VGLL3 0 genome.wustl.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 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 36 0 0.00 29 5 14.71 VPS13D 0 genome.wustl.edu 37 1 12401921 12401921 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 12401921 12401921 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.8711 p.T2904I 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 56 0 0.00 58 5 7.94 VWA5A 0 genome.wustl.edu 37 11 123989240 123989240 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 123989240 123989240 G T SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.470 p.G157V 0.029 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 21 0 0.00 56 3 5.08 VWDE 0 genome.wustl.edu 37 7 12410039 12410039 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 7 12410039 12410039 C T SNP VWDE ENST00000452576 human ensembl 74_37 -1 known silent c.1893 p.A631 0.000 NULL pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 21 0 0.00 20 2 9.09 WARS2 0 genome.wustl.edu 37 1 119683180 119683180 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 119683180 119683180 G T SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.88 p.Q30K 0.962 NULL pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 tier1 - - 25 0 0.00 29 4 12.12 WDR17 0 genome.wustl.edu 37 4 177052812 177052812 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 177052812 177052812 G A SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1093 p.A365T 0.994 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 55 0 0.00 57 3 5.00 WDR41 0 genome.wustl.edu 37 5 76721825 76721825 + RNA SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 76721825 76721825 A T SNP WDR41 ENST00000514878 human ensembl 74_37 -1 putative rna NULL NULL 0.007 - - - no_errors WDR41 HGNC ENSG00000164253 tier1 - - 26 0 0.00 24 19 44.19 WHSC1 0 genome.wustl.edu 37 4 1954887 1954887 + Silent SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 4 1954887 1954887 C T SNP WHSC1 ENST00000382888 human ensembl 74_37 +1 known silent c.18 p.C6 0.042 NULL pfam_SET_dom,pfam_PWWP_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_PWWP_dom,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 48 0 0.00 50 4 7.41 WWP2 0 genome.wustl.edu 37 16 69974083 69974083 + RNA SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 69974083 69974083 G A SNP WWP2 ENST00000569297 human ensembl 74_37 +1 known rna NULL NULL 0.178 - - - no_errors WWP2 HGNC ENSG00000198373 tier1 - - 30 0 0.00 27 8 22.86 XRRA1 0 genome.wustl.edu 37 11 74559456 74559456 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 11 74559456 74559456 G A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.1408 p.P470S 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 29 0 0.00 24 12 33.33 ZBTB9 0 genome.wustl.edu 37 6 33423364 33423364 + Missense_Mutation SNP A A T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 33423364 33423364 A T SNP ZBTB9 ENST00000395064 human ensembl 74_37 +1 known missense c.487 p.T163S 0.001 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 36 0 0.00 69 5 6.76 ZC3H12A 0 genome.wustl.edu 37 1 37947279 37947279 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 1 37947279 37947279 G T SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.661 p.V221L 0.998 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 tier1 - - 50 0 0.00 25 21 45.65 ZC3H6 0 genome.wustl.edu 37 2 113074098 113074098 + Nonsense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 2 113074098 113074098 C T SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known nonsense c.799 p.Q267* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 tier1 - - 42 0 0.00 74 4 5.13 ZFP41 0 genome.wustl.edu 37 8 144332542 144332542 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 8 144332542 144332542 G T SNP ZFP41 ENST00000330701 human ensembl 74_37 +1 known missense c.529 p.G177W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 44 0 0.00 50 3 5.66 ZKSCAN2 0 genome.wustl.edu 37 16 25251911 25251911 + Silent SNP T T C TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 16 25251911 25251911 T C SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known silent c.2130 p.S710 0.890 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 tier1 - - 39 0 0.00 51 4 7.27 ZNF134 0 genome.wustl.edu 37 19 58132263 58132263 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 58132263 58132263 C T SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known missense c.776 p.P259L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 tier1 - - 29 0 0.00 28 15 34.88 ZNF30 0 genome.wustl.edu 37 19 35434868 35434868 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 35434868 35434868 G A SNP ZNF30 ENST00000303586 human ensembl 74_37 +1 known missense c.1001 p.R334Q 0.000 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 ZNF30 HGNC ENSG00000168661 tier1 - - 48 0 0.00 60 4 6.25 ZNF333 0 genome.wustl.edu 37 19 14817559 14817559 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 14817559 14817559 G A SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.485 p.R162H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 tier1 - - 31 0 0.00 30 4 11.76 ZNF335 0 genome.wustl.edu 37 20 44578137 44578137 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 20 44578137 44578137 C T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.3740 p.G1247D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 38 0 0.00 47 4 7.84 ZNF581 0 genome.wustl.edu 37 19 56156448 56156448 + Missense_Mutation SNP C C T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 56156448 56156448 C T SNP ZNF581 ENST00000270451 human ensembl 74_37 +1 known missense c.511 p.R171C 0.993 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF581 HGNC ENSG00000171425 tier1 - - 80 0 0.00 79 30 27.52 ZNF608 0 genome.wustl.edu 37 5 124080411 124080411 + Missense_Mutation SNP G G A TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 5 124080411 124080411 G A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.272 p.S91F 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 tier1 - - 52 0 0.00 40 21 34.43 ZNF667 0 genome.wustl.edu 37 19 56952917 56952917 + Silent SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 19 56952917 56952917 G T SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known silent c.1831 p.R611 0.000 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 ZNF667 HGNC ENSG00000198046 tier1 - - 36 0 0.00 46 19 28.79 ZSCAN31 0 genome.wustl.edu 37 6 28294059 28294059 + Missense_Mutation SNP G G T TCGA-JY-A93F-01A-21D-A37C-09 TCGA-JY-A93F-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq def53512-fa87-4775-8ed4-9c1ceaea2a3d 09ac5fc9-0dc3-4174-87ac-5207067025d0 6 28294059 28294059 G T SNP ZSCAN31 ENST00000344279 human ensembl 74_37 -1 known missense c.1105 p.H369N 0.847 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN31 HGNC ENSG00000235109 24 0 0.00 52 3 5.45