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 PTCHD2 0 genome.wustl.edu 37 1 11579853 11579853 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 11579853 11579853 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2116 p.R706C 1.000 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 217 1 0.458716 119 64 34.9727 NBPF10 0 genome.wustl.edu 37 1 145324371 145324371 + Missense_Mutation SNP T T C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 145324371 145324371 T C SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.3566 p.V1189A 0.005 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 20 0 0 21 6 22.2222 HIST2H2AB 0 genome.wustl.edu 37 1 149859408 149859408 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 149859408 149859408 G A SNP HIST2H2AB ENST00000331128 human ensembl 74_37 -1 known missense c.59 p.S20F 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC ENSG00000184270 296 0 0 160 80 33.3333 HRNR 0 genome.wustl.edu 37 1 152187549 152187549 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 152187549 152187549 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.6556 p.G2186S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 252 0 0 187 33 15 FCRL5 0 genome.wustl.edu 37 1 157508895 157508895 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 157508895 157508895 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known silent c.1383 p.A461 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 72 0 0 50 18 26.4706 OR10J3 0 genome.wustl.edu 37 1 159284373 159284373 + Missense_Mutation SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 159284373 159284373 A C SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.77 p.L26R 0.093 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 333 0 0 279 111 28.4615 TNN 0 genome.wustl.edu 37 1 175067562 175067562 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 175067562 175067562 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.1950 p.Y650 0.079 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 224 0 0 157 82 34.3096 ASTN1 0 genome.wustl.edu 37 1 176992559 176992559 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 176992559 176992559 G T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1419 p.H473Q 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 21 0 0 13 5 27.7778 LAMC1 0 genome.wustl.edu 37 1 183087207 183087207 + Missense_Mutation SNP T T A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 183087207 183087207 T A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1916 p.L639H 0.950 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 127 0 0 68 23 25.2747 LAMC2 0 genome.wustl.edu 37 1 183201456 183201456 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 183201456 183201456 G A SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known silent c.1992 p.L664 0.999 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 103 0 0 78 25 24.2718 EPRS 0 genome.wustl.edu 37 1 220153467 220153467 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 220153467 220153467 G A SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.3671 p.T1224I 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 491 0 0 342 117 25.4902 USP48 0 genome.wustl.edu 37 1 22079022 22079022 + Silent SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 22079022 22079022 A C SNP USP48 ENST00000308271 human ensembl 74_37 -1 known silent c.663 p.T221 0.714 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 62 0 0 60 4 6.25 URB2 0 genome.wustl.edu 37 1 229772123 229772123 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 229772123 229772123 C T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.1763 p.P588L 0.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 382 0 0 390 22 5.33981 ELTD1 0 genome.wustl.edu 37 1 79404873 79404873 + Missense_Mutation SNP T T A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 79404873 79404873 T A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.396 p.K132N 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 24 0 0 9 5 35.7143 COL24A1 0 genome.wustl.edu 37 1 86591429 86591429 + Missense_Mutation SNP A A G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 86591429 86591429 A G SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.590 p.F197S 0.272 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 35 0 0 21 15 41.6667 ALOX5 0 genome.wustl.edu 37 10 45938960 45938960 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 10 45938960 45938960 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known silent c.1548 p.Y516 0.847 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 66 0 0 29 11 27.5 AGAP7 0 genome.wustl.edu 37 10 51465740 51465740 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 10 51465740 51465740 G A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.716 p.P239L 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 129 0 0 89 46 34.0741 MYOF 0 genome.wustl.edu 37 10 95069867 95069867 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 10 95069867 95069867 G A SNP MYOF ENST00000359263 human ensembl 74_37 -1 known silent c.6057 p.I2019 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 125 0 0 95 25 20.8333 MRGPRX1 0 genome.wustl.edu 37 11 18956197 18956197 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 11 18956197 18956197 G A SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known silent c.135 p.N45 0.484 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 658 0 0 562 79 12.3245 MUC15 0 genome.wustl.edu 37 11 26587340 26587340 + Silent SNP A A G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 11 26587340 26587340 A G SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known silent c.147 p.H49 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 99 0 0 88 24 21.4286 SNORA18 0 genome.wustl.edu 37 11 93466636 93466636 + RNA SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 11 93466636 93466636 G A SNP SNORA18 ENST00000384416 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA18 HGNC ENSG00000207145 89 0 0 78 13 14.2857 CKAP4 0 genome.wustl.edu 37 12 106633279 106633279 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 12 106633279 106633279 G A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known silent c.1332 p.H444 0.000 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 143 1 0.694444 91 47 34.058 RSRC2 0 genome.wustl.edu 37 12 122995657 122995657 + Silent SNP T T C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 12 122995657 122995657 T C SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known silent c.804 p.A268 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 41 0 0 32 4 11.1111 LRRK2 0 genome.wustl.edu 37 12 40761559 40761559 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 12 40761559 40761559 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.7576 p.V2526F 0.736 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 25 0 0 42 5 10.6383 SRGAP1 0 genome.wustl.edu 37 12 64488928 64488928 + Missense_Mutation SNP T T A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 12 64488928 64488928 T A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.1622 p.F541Y 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 199 0 0 163 40 19.7044 SRGAP1 0 genome.wustl.edu 37 12 64488929 64488929 + Missense_Mutation SNP C C A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 12 64488929 64488929 C A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.1623 p.F541L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 198 0 0 164 41 20 NUPL1 0 genome.wustl.edu 37 13 25882042 25882042 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 13 25882042 25882042 G C SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.206 p.G69A 0.995 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 150 0 0 104 33 24.0876 DCLK1 0 genome.wustl.edu 37 13 36686282 36686282 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 13 36686282 36686282 G T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.447 p.N149K 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 169 0 0 123 46 27.2189 GPC5 0 genome.wustl.edu 37 13 92345708 92345708 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 13 92345708 92345708 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.593 p.R198H 0.067 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 172 0 0 129 61 32.1053 EXOC3L4 0 genome.wustl.edu 37 14 103568595 103568595 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 14 103568595 103568595 G T SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known missense c.535 p.A179S 1.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 22 0 0 9 5 35.7143 ZNF219 0 genome.wustl.edu 37 14 21561022 21561022 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 14 21561022 21561022 G T SNP ZNF219 ENST00000360947 human ensembl 74_37 -1 known missense c.434 p.A145D 0.036 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 48 0 0 25 4 13.7931 SSTR1 0 genome.wustl.edu 37 14 38678850 38678850 + Missense_Mutation SNP T T A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 14 38678850 38678850 T A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.256 p.Y86N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 301 0 0 199 60 23.166 KIAA0586 0 genome.wustl.edu 37 14 58934502 58934502 + Silent SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 14 58934502 58934502 C G SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known silent c.2259 p.V753 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 235 0 0 174 52 23.0088 IGDCC4 0 genome.wustl.edu 37 15 65678955 65678955 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 15 65678955 65678955 C T SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.2885 p.G962D 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 43 0 0 31 9 22.5 STRA6 0 genome.wustl.edu 37 15 74494638 74494638 + RNA SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 15 74494638 74494638 G A SNP STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors STRA6 HGNC ENSG00000137868 40 0 0 25 8 24.2424 IQGAP1 0 genome.wustl.edu 37 15 90984881 90984881 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 15 90984881 90984881 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.793 p.A265T 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 108 1 0.917431 96 46 32.3944 SLCO3A1 0 genome.wustl.edu 37 15 92459622 92459622 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 15 92459622 92459622 G T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.580 p.V194L 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 45 0 0 35 3 7.89474 CHD2 0 genome.wustl.edu 37 15 93567880 93567880 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 15 93567880 93567880 G A SNP CHD2 ENST00000394196 human ensembl 74_37 +1 novel missense c.5432 p.R1811K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 121 0 0 68 33 32.6733 PDXDC1 0 genome.wustl.edu 37 16 15122751 15122751 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 16 15122751 15122751 C T SNP PDXDC1 ENST00000396410 human ensembl 74_37 +1 known silent c.1221 p.A407 0.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors PDXDC1 HGNC ENSG00000179889 70 0 0 50 6 10.7143 DNAH3 0 genome.wustl.edu 37 16 21031006 21031006 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 16 21031006 21031006 C G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5962 p.D1988H 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 185 0 0 94 41 30.3704 SRCAP 0 genome.wustl.edu 37 16 30715408 30715408 + Silent SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 16 30715408 30715408 C G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.78 p.G26 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 182 0 0 116 34 22.6667 NLRC3 0 genome.wustl.edu 37 16 3614350 3614350 + Silent SNP C C A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 16 3614350 3614350 C A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.729 p.S243 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 53 0 0 33 2 5.71429 CNTNAP4 0 genome.wustl.edu 37 16 76572099 76572099 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 16 76572099 76572099 G A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.3079 p.A1027T 0.990 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 94 0 0 74 40 35.0877 SPATA22 0 genome.wustl.edu 37 17 3349846 3349846 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 17 3349846 3349846 C G SNP SPATA22 ENST00000397168 human ensembl 74_37 -1 known missense c.722 p.R241T 1.000 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 37 0 0 30 16 34.7826 CDK12 0 genome.wustl.edu 37 17 37649112 37649112 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 17 37649112 37649112 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known silent c.2217 p.G739 0.998 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 CDK12 HGNC ENSG00000167258 105 0 0 73 29 28.4314 TRIM37 0 genome.wustl.edu 37 17 57109276 57109276 + Silent SNP A A T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 17 57109276 57109276 A T SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known silent c.1929 p.A643 1.000 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 279 0 0 191 62 24.5059 LDLR 0 genome.wustl.edu 37 19 11218184 11218184 + Nonsense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 19 11218184 11218184 G T SNP LDLR ENST00000558518 human ensembl 74_37 +1 known nonsense c.934 p.E312* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 117 1 0.847458 67 25 27.1739 CYP4F8 0 genome.wustl.edu 37 19 15730439 15730439 + RNA SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 19 15730439 15730439 G A SNP CYP4F8 ENST00000443973 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors CYP4F8 HGNC ENSG00000186526 79 0 0 36 12 25 SIGLEC14 0 genome.wustl.edu 37 19 52148732 52148732 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 19 52148732 52148732 G C SNP SIGLEC14 ENST00000360844 human ensembl 74_37 -1 known missense c.752 p.T251R 0.137 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC14 HGNC ENSG00000254415 114 0 0 76 35 31.5315 HAS1 0 genome.wustl.edu 37 19 52220238 52220238 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 19 52220238 52220238 C G SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.932 p.C311S 1.000 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 226 0 0 126 56 30.7692 EVI5L 0 genome.wustl.edu 37 19 7914143 7914143 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 19 7914143 7914143 C T SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known missense c.554 p.A185V 0.998 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 133 0 0 64 16 20 ST6GAL2 0 genome.wustl.edu 37 2 107459775 107459775 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 2 107459775 107459775 C T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.659 p.R220H 1.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 67 0 0 27 13 32.5 ZNF385B 0 genome.wustl.edu 37 2 180309654 180309654 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 2 180309654 180309654 C T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known silent c.1146 p.K382 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 376 0 0 320 89 21.7604 DNAH7 0 genome.wustl.edu 37 2 196749409 196749409 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 2 196749409 196749409 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5663 p.T1888M 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 141 0 0 99 32 24.4275 COL6A3 0 genome.wustl.edu 37 2 238249780 238249780 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 2 238249780 238249780 G C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7779 p.I2593M 0.003 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 244 0 0 161 83 34.0164 NRXN1 0 genome.wustl.edu 37 2 51255085 51255085 + Silent SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 2 51255085 51255085 A C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.327 p.V109 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 47 0 0 31 12 27.907 ANKRD53 0 genome.wustl.edu 37 2 71211788 71211788 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 2 71211788 71211788 C T SNP ANKRD53 ENST00000360589 human ensembl 74_37 +1 putative silent c.951 p.H317 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD53 HGNC ENSG00000144031 107 0 0 77 28 26.6667 OTOR 0 genome.wustl.edu 37 20 16730657 16730657 + Splice_Site SNP T T C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 20 16730657 16730657 T C SNP OTOR ENST00000246081 human ensembl 74_37 +1 known splice_site c.363+2 e3+2 1.000 - - - no_errors OTOR HGNC ENSG00000125879 47 0 0 53 12 18.4615 CST8 0 genome.wustl.edu 37 20 23472436 23472436 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 20 23472436 23472436 C T SNP CST8 ENST00000246012 human ensembl 74_37 +1 known silent c.132 p.N44 0.868 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 315 0 0 256 78 23.3533 PTGIS 0 genome.wustl.edu 37 20 48124559 48124559 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 20 48124559 48124559 G C SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known missense c.1401 p.I467M 0.006 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 96 0 0 111 26 18.9781 KCNJ6 0 genome.wustl.edu 37 21 39086934 39086934 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 21 39086934 39086934 C T SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.526 p.V176M 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 162 0 0 102 43 29.6552 SUSD2 0 genome.wustl.edu 37 22 24583266 24583266 + Missense_Mutation SNP T T G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 22 24583266 24583266 T G SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1739 p.V580G 0.991 pfam_VWF_type-D,smart_VWF_type-D pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 88 0 0 45 13 22.4138 ACO2 0 genome.wustl.edu 37 22 41923306 41923306 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 22 41923306 41923306 G A SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known silent c.1968 p.R656 1.000 pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 109 1 0.909091 73 15 17.0455 PKDREJ 0 genome.wustl.edu 37 22 46658193 46658193 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 22 46658193 46658193 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.1027 p.D343N 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 300 0 0 195 62 24.1245 C3orf52 0 genome.wustl.edu 37 3 111828417 111828417 + Missense_Mutation SNP T T G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 3 111828417 111828417 T G SNP C3orf52 ENST00000264848 human ensembl 74_37 +1 known missense c.424 p.S142A 0.059 NULL NULL - no_errors C3orf52 HGNC ENSG00000114529 36 0 0 15 6 28.5714 PODXL2 0 genome.wustl.edu 37 3 127381088 127381088 + Nonsense_Mutation SNP C C A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 3 127381088 127381088 C A SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known nonsense c.1140 p.C380* 1.000 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 101 1 0.980392 69 4 5.47945 CNTN6 0 genome.wustl.edu 37 3 1337484 1337484 + Silent SNP T T G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 3 1337484 1337484 T G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.654 p.T218 0.214 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 75 0 0 46 23 33.3333 CACNA2D3 0 genome.wustl.edu 37 3 54871251 54871251 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 3 54871251 54871251 C T SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.1464 p.N488 0.315 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 314 0 0 235 66 21.9269 RASGEF1B 0 genome.wustl.edu 37 4 82355019 82355019 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 4 82355019 82355019 G A SNP RASGEF1B ENST00000264400 human ensembl 74_37 -1 known silent c.1299 p.L433 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1B HGNC ENSG00000138670 237 0 0 153 67 30.4545 SLC26A1 0 genome.wustl.edu 37 4 984125 984125 + Missense_Mutation SNP C C A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 4 984125 984125 C A SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.602 p.G201V 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 16 0 0 12 4 25 HNRNPA0 0 genome.wustl.edu 37 5 137089636 137089636 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 5 137089636 137089636 C T SNP HNRNPA0 ENST00000314940 human ensembl 74_37 -1 known silent c.120 p.V40 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA0 HGNC ENSG00000177733 124 0 0 46 29 38.6667 GRIA1 0 genome.wustl.edu 37 5 153029970 153029970 + Missense_Mutation SNP A A T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 5 153029970 153029970 A T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.571 p.T191S 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 144 0 0 50 11 18.0328 GRIA1 0 genome.wustl.edu 37 5 153029971 153029971 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 5 153029971 153029971 C G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.572 p.T191R 0.998 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 147 0 0 52 12 18.75 GRIA1 0 genome.wustl.edu 37 5 153030042 153030042 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 5 153030042 153030042 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.643 p.E215K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 107 0 0 55 16 22.5352 FLT4 0 genome.wustl.edu 37 5 180040051 180040051 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 5 180040051 180040051 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.3391 p.G1131S 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_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 224 0 0 92 29 23.9669 THBS4 0 genome.wustl.edu 37 5 79331429 79331429 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 5 79331429 79331429 C T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.69 p.G23 0.137 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 8 0 0 0 6 100 HIST1H2AC 0 genome.wustl.edu 37 6 26124688 26124688 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 6 26124688 26124688 G C SNP HIST1H2AC ENST00000314088 human ensembl 74_37 +1 known missense c.228 p.K76N 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AC HGNC ENSG00000180573 171 0 0 158 51 24.4019 HIST1H2AM 0 genome.wustl.edu 37 6 27860703 27860703 + Silent SNP T T C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 6 27860703 27860703 T C SNP HIST1H2AM ENST00000359611 human ensembl 74_37 -1 known silent c.225 p.K75 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AM HGNC ENSG00000233224 313 0 0 252 46 15.4362 LRFN2 0 genome.wustl.edu 37 6 40359893 40359893 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 6 40359893 40359893 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.2159 p.R720H 0.998 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 35 0 0 14 11 44 PTPRN2 0 genome.wustl.edu 37 7 157414082 157414082 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 7 157414082 157414082 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.2385 p.P795 0.992 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 618 0 0 334 109 24.605 AUTS2 0 genome.wustl.edu 37 7 70231198 70231198 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 7 70231198 70231198 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.1567 p.E523K 0.999 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 105 0 0 86 19 18.0952 PCLO 0 genome.wustl.edu 37 7 82764926 82764926 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 7 82764926 82764926 C G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.1940 p.G647A 0.993 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 48 0 0 44 9 16.9811 ASAP1 0 genome.wustl.edu 37 8 131088602 131088602 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 8 131088602 131088602 G T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2693 p.P898H 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 111 0 0 65 18 21.6867 ARHGAP39 0 genome.wustl.edu 37 8 145773557 145773557 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 8 145773557 145773557 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.913 p.R305C 0.997 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 67 0 0 39 20 33.8983 LZTS1 0 genome.wustl.edu 37 8 20110556 20110556 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 8 20110556 20110556 C T SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known missense c.886 p.E296K 1.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 129 0 0 90 21 18.9189 PREX2 0 genome.wustl.edu 37 8 68993021 68993021 + Missense_Mutation SNP A A G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 8 68993021 68993021 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1826 p.D609G 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 119 0 0 41 22 34.9206 DEFB106A 0 genome.wustl.edu 37 8 7686363 7686363 + Missense_Mutation SNP T T G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 8 7686363 7686363 T G SNP DEFB106A ENST00000335186 human ensembl 74_37 +1 known missense c.86 p.L29R 0.001 NULL NULL - no_errors DEFB106A HGNC ENSG00000186579 54 0 0 45 18 28.5714 CPNE3 0 genome.wustl.edu 37 8 87567198 87567198 + Nonsense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 8 87567198 87567198 C T SNP CPNE3 ENST00000198765 human ensembl 74_37 +1 known nonsense c.1240 p.Q414* 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE3 HGNC ENSG00000085719 119 0 0 76 23 23.2323 SDCCAG3 0 genome.wustl.edu 37 9 139301561 139301561 + RNA SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 9 139301561 139301561 G A SNP SDCCAG3 ENST00000468963 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SDCCAG3 HGNC ENSG00000165689 59 0 0 41 10 19.6078 NAA35 0 genome.wustl.edu 37 9 88632418 88632418 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 9 88632418 88632418 C T SNP NAA35 ENST00000361671 human ensembl 74_37 +1 known missense c.1711 p.P571S 1.000 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC ENSG00000135040 72 0 0 103 12 10.4348 PHF2 0 genome.wustl.edu 37 9 96438029 96438029 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 9 96438029 96438029 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.2790 p.I930 0.944 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 170 0 0 121 25 17.1233 ARHGAP6 0 genome.wustl.edu 37 X 11162204 11162204 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb X 11162204 11162204 C T SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known missense c.2072 p.G691E 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 158 0 0 59 7 10.6061 ARHGAP6 0 genome.wustl.edu 37 X 11162252 11162252 + Missense_Mutation SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb X 11162252 11162252 A C SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known missense c.2024 p.V675G 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 139 0 0 68 40 37.037 CYLC1 0 genome.wustl.edu 37 X 83128123 83128123 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb X 83128123 83128123 G C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.407 p.G136A 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 21 0 0 12 14 53.8462 ARHGEF16 0 genome.wustl.edu 37 1 3396111 3396112 + Frame_Shift_Del DEL CA CA - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 1 3396111 3396112 CA - DEL ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known frame_shift_del c.1845_1846 p.H617fs 0.817:0.417 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 75 0 0 39 11 22 GALNT18 0 genome.wustl.edu 37 11 11400693 11400716 + In_Frame_Del DEL GCCACTGACCCTGGAGCGGATGAG GCCACTGACCCTGGAGCGGATGAG - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 GCCACTGACCCTGGAGCGGATGAG GCCACTGACCCTGGAGCGGATGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 11 11400693 11400716 GCCACTGACCCTGGAGCGGATGAG - DEL GALNT18 ENST00000227756 human ensembl 74_37 -1 known in_frame_del c.714_691 p.LIRSRVSG231in_frame_del 1.000:1.000:1.000:0.755:0.999:1.000:0.998:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:0.989:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 101 0 0 59 9 13.2353 NUP107 0 genome.wustl.edu 37 12 69096558 69096558 + Frame_Shift_Del DEL A A - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 12 69096558 69096558 A - DEL NUP107 ENST00000229179 human ensembl 74_37 +1 known frame_shift_del c.723 p.V242fs 0.173 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 120 0 0 69 19 21.5909 ALG11 0 genome.wustl.edu 37 13 52602650 52602661 + In_Frame_Del DEL GTGCATCTGTAA GTGCATCTGTAA - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 GTGCATCTGTAA GTGCATCTGTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 13 52602650 52602661 GTGCATCTGTAA - DEL ALG11 ENST00000521508 human ensembl 74_37 +1 known in_frame_del c.1403_1414 p.ASVS469in_frame_del 0.998:0.039:0.519:0.444:0.416:0.999:1.000:0.960:0.979:0.976:0.315:0.449 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 176 0 0 110 24 17.9104 BAZ1A 0 genome.wustl.edu 37 14 35343708 35343708 + Frame_Shift_Del DEL G G - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 14 35343708 35343708 G - DEL BAZ1A ENST00000360310 human ensembl 74_37 -1 known frame_shift_del c.103 p.R35fs 1.000 pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146 pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 150 0 0 99 29 22.6562 ENSG00000257275 0 genome.wustl.edu 37 14 96178149 96178150 + RNA DEL AG AG - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 14 96178149 96178150 AG - DEL ENSG00000257275 ENST00000547644 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors RP11-164H13.1 Clone_based_vega_gene ENSG00000257275 42 0 0 27 3 10 OR5H2 0 genome.wustl.edu 37 3 98001983 98001984 + Frame_Shift_Ins INS - - A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 3 98001983 98001984 - A INS OR5H2 ENST00000355273 human ensembl 74_37 +1 known frame_shift_ins c.252_253 p.M85fs 0.001:0.002 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 OR5H2 HGNC ENSG00000197938 364 0 0 371 98 20.8955 FOXC1 0 genome.wustl.edu 37 6 1612231 1612232 + Frame_Shift_Ins INS - - T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 6 1612231 1612232 - T INS FOXC1 ENST00000380874 human ensembl 74_37 +1 known frame_shift_ins c.1551_1552 p.L517fs 0.993:0.991 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC1 HGNC ENSG00000054598 43 0 0 36 4 10 WHSC1L1 0 genome.wustl.edu 37 8 38139015 38139016 + Frame_Shift_Ins INS - - A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb 8 38139015 38139016 - A INS WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known frame_shift_ins c.3588_3587 p.T1197fs 0.995:1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,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 WHSC1L1 HGNC ENSG00000147548 31 0 0 23 5 17.8571