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 CSDE1 0 genome.wustl.edu 37 1 115275417 115275417 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 115275417 115275417 G A SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known silent c.903 p.R301 0.995 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 140 0 0 90 5 5.26316 ADAM30 0 genome.wustl.edu 37 1 120438121 120438121 + Missense_Mutation SNP T T A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 120438121 120438121 T A SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known missense c.839 p.K280I 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM30 HGNC ENSG00000134249 82 0 0 52 12 18.75 NBPF18P 0 genome.wustl.edu 37 1 151994936 151994936 + RNA SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 151994936 151994936 G A SNP NBPF18P ENST00000432386 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors NBPF18P HGNC ENSG00000229021 87 0 0 40 10 20 RC3H1 0 genome.wustl.edu 37 1 173931083 173931083 + Missense_Mutation SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 173931083 173931083 T C SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known missense c.1982 p.Q661R 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 208 0 0 122 48 28.2353 ARHGEF10L 0 genome.wustl.edu 37 1 18021598 18021598 + RNA SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 18021598 18021598 G C SNP ARHGEF10L ENST00000495593 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ARHGEF10L HGNC ENSG00000074964 255 0 0 56 8 12.5 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 318 0 0 90 30 25 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 385 0 0 82 33 28.6957 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 192 0 0 49 26 34.6667 ACTN2 0 genome.wustl.edu 37 1 236902782 236902782 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 236902782 236902782 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1057 p.R353W 0.998 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 99 0 0 42 8 16 OR2L8 0 genome.wustl.edu 37 1 248112505 248112505 + Missense_Mutation SNP T T G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 248112505 248112505 T G SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.346 p.S116A 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 295 0 0 229 30 11.583 OR2M4 0 genome.wustl.edu 37 1 248402353 248402353 + Missense_Mutation SNP A A C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 248402353 248402353 A C SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.123 p.E41D 0.557 pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 252 0 0 138 20 12.6582 GPATCH3 0 genome.wustl.edu 37 1 27223851 27223851 + Missense_Mutation SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 27223851 27223851 A G SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known missense c.817 p.C273R 0.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 398 0 0 119 17 12.5 ERI3 0 genome.wustl.edu 37 1 44785405 44785405 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 44785405 44785405 C T SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known silent c.501 p.E167 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 76 0 0 64 5 7.24638 SPATA1 0 genome.wustl.edu 37 1 84991560 84991560 + RNA SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 1 84991560 84991560 A G SNP SPATA1 ENST00000370638 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 61 0 0 34 6 15 SLC16A9 0 genome.wustl.edu 37 10 61432672 61432672 + Splice_Site SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 10 61432672 61432672 C A SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known splice_site c.197-1 e2-1 1.000 - - - no_errors SLC16A9 HGNC ENSG00000165449 64 0 0 68 23 25.2747 MMP20 0 genome.wustl.edu 37 11 102482570 102482570 + Missense_Mutation SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 102482570 102482570 G T SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.439 p.Q147K 0.724 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 84 0 0 48 7 12.7273 SIK3 0 genome.wustl.edu 37 11 116719989 116719989 + Silent SNP T T G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 116719989 116719989 T G SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known silent c.3522 p.I1174 0.675 NULL 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 73 0 0 51 4 7.27273 CDON 0 genome.wustl.edu 37 11 125891151 125891151 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 125891151 125891151 G A SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.341 p.S114F 0.911 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 71 0 0 42 17 28.8136 SPTY2D1 0 genome.wustl.edu 37 11 18637507 18637507 + Nonsense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 18637507 18637507 G C SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known nonsense c.314 p.S105* 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 219 0 0 117 15 11.3636 SCGB1C1 0 genome.wustl.edu 37 11 193135 193135 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 193135 193135 C T SNP SCGB1C1 ENST00000342878 human ensembl 74_37 +1 known silent c.36 p.L12 0.026 pfam_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1C1 HGNC ENSG00000188076 119 0 0 32 5 13.5135 TSSC2 0 genome.wustl.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 3427845 3427845 C T SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TSSC2 HGNC ENSG00000223756 87 0 0 39 4 9.30233 NUP160 0 genome.wustl.edu 37 11 47819349 47819349 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 47819349 47819349 G A SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.3271 p.R1091C 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 135 0 0 59 21 26.25 OR2AG1 0 genome.wustl.edu 37 11 6806527 6806527 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 6806527 6806527 C T SNP OR2AG1 ENST00000307401 human ensembl 74_37 +1 known missense c.259 p.R87C 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AG1 HGNC ENSG00000170803 184 0 0 70 35 33.3333 TPCN2 0 genome.wustl.edu 37 11 68853143 68853143 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 68853143 68853143 G C SNP TPCN2 ENST00000294309 human ensembl 74_37 +1 known missense c.1843 p.A615P 0.575 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 202 0 0 57 17 22.973 FAM71C 0 genome.wustl.edu 37 12 100042226 100042226 + Missense_Mutation SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 12 100042226 100042226 G T SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.274 p.A92S 0.001 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 161 0 0 85 27 24.1071 MED13L 0 genome.wustl.edu 37 12 116424993 116424993 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 12 116424993 116424993 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.4035 p.R1345 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 158 0 0 57 9 13.6364 PLA2G1B 0 genome.wustl.edu 37 12 120763699 120763699 + Missense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 12 120763699 120763699 C A SNP PLA2G1B ENST00000308366 human ensembl 74_37 -1 known missense c.159 p.L53F 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G1B HGNC ENSG00000170890 317 0 0 91 21 18.75 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 163 1 0.609756 38 11 22.449 KRT6B 0 genome.wustl.edu 37 12 52841179 52841179 + Missense_Mutation SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 12 52841179 52841179 T C SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known missense c.1490 p.Y497C 0.998 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 74 0 0 33 4 10.8108 STAT2 0 genome.wustl.edu 37 12 56744056 56744056 + RNA SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 12 56744056 56744056 C T SNP STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors STAT2 HGNC ENSG00000170581 127 0 0 57 8 12.3077 OS9 0 genome.wustl.edu 37 12 58114598 58114598 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 12 58114598 58114598 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1910 p.R637H 0.998 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 80 0 0 35 7 16.6667 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36764191 36764191 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 13 36764191 36764191 G C SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.764 p.S255C 0.714 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 79 0 0 50 15 23.0769 SUPT20H 0 genome.wustl.edu 37 13 37598543 37598543 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 13 37598543 37598543 C G SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.1366 p.G456R 1.000 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 80 0 0 24 16 40 CPB2 0 genome.wustl.edu 37 13 46656606 46656606 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 13 46656606 46656606 C T SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known silent c.354 p.S118 0.016 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 124 0 0 58 16 21.6216 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 29 0 0 7 8 53.3333 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 157 0 0 38 33 46.4789 DNAAF2 0 genome.wustl.edu 37 14 50092414 50092414 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 14 50092414 50092414 G C SNP DNAAF2 ENST00000298292 human ensembl 74_37 -1 known missense c.2360 p.S787C 0.983 NULL pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 98 0 0 52 3 5.45455 C14orf182 0 genome.wustl.edu 37 14 50472554 50472554 + RNA SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 14 50472554 50472554 C G SNP C14orf182 ENST00000528300 human ensembl 74_37 -1 known rna NULL NULL 0.066 - - - no_errors C14orf182 HGNC ENSG00000214900 102 0 0 56 7 11.1111 ENSG00000272909 0 genome.wustl.edu 37 14 64908251 64908251 + RNA SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 14 64908251 64908251 G A SNP ENSG00000272909 ENST00000609125 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2555O16.4 Clone_based_vega_gene ENSG00000272909 16 0 0 13 10 43.4783 TTLL5 0 genome.wustl.edu 37 14 76368562 76368562 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 14 76368562 76368562 C G SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.3818 p.S1273C 0.999 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 84 0 0 34 7 17.0732 SNW1 0 genome.wustl.edu 37 14 78217691 78217691 + Missense_Mutation SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 14 78217691 78217691 T C SNP SNW1 ENST00000261531 human ensembl 74_37 -1 known missense c.301 p.I101V 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 135 0 0 88 11 11.1111 C14orf177 0 genome.wustl.edu 37 14 99182681 99182681 + Silent SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 14 99182681 99182681 A G SNP C14orf177 ENST00000325812 human ensembl 74_37 +1 known silent c.153 p.R51 0.000 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 46 0 0 31 5 13.8889 ASB7 0 genome.wustl.edu 37 15 101170193 101170193 + Missense_Mutation SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 15 101170193 101170193 A G SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known missense c.763 p.I255V 0.991 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 106 0 0 62 14 18.4211 OTUD7A 0 genome.wustl.edu 37 15 31776753 31776753 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 15 31776753 31776753 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.1546 p.R516C 0.934 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 44 0 0 13 3 18.75 VPS18 0 genome.wustl.edu 37 15 41192978 41192978 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 15 41192978 41192978 C T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.1962 p.N654 0.203 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 216 0 0 71 13 15.4762 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 107 0 0 33 26 44.0678 KIAA0430 0 genome.wustl.edu 37 16 15732982 15732982 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 16 15732982 15732982 G A SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.109 p.R37C 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 141 0 0 59 23 28.0488 RABEP2 0 genome.wustl.edu 37 16 28926046 28926046 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 16 28926046 28926046 C T SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known missense c.490 p.E164K 0.004 prints_Rabaptin pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 377 0 0 66 31 31.9588 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 145 0 0 53 21 28.3784 OSGIN1 0 genome.wustl.edu 37 16 83998836 83998836 + Missense_Mutation SNP T T G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 16 83998836 83998836 T G SNP OSGIN1 ENST00000361711 human ensembl 74_37 +1 known missense c.658 p.F220V 0.996 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 167 0 0 90 29 24.3697 FOXF1 0 genome.wustl.edu 37 16 86544645 86544645 + Missense_Mutation SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 16 86544645 86544645 T C SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.470 p.M157T 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 202 0 0 55 38 40.8602 KRT28 0 genome.wustl.edu 37 17 38954574 38954574 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 17 38954574 38954574 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known silent c.603 p.D201 0.510 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 150 0 0 77 10 11.4943 TTC25 0 genome.wustl.edu 37 17 40094927 40094927 + RNA SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 17 40094927 40094927 G C SNP TTC25 ENST00000591658 human ensembl 74_37 +1 known rna NULL NULL 0.721 - - - no_errors TTC25 HGNC ENSG00000204815 369 0 0 97 20 17.094 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 68 0 0 12 5 29.4118 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 77 0 0 15 19 55.8824 TSHZ1 0 genome.wustl.edu 37 18 72998526 72998526 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 18 72998526 72998526 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.1164 p.P388 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 141 1 0.704225 40 3 6.97674 CRTC1 0 genome.wustl.edu 37 19 18871039 18871039 + Splice_Site SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 18871039 18871039 G A SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known splice_site c.934+1 e9+1 1.000 - - - no_errors CRTC1 HGNC ENSG00000105662 19 0 0 9 4 30.7692 YJEFN3 0 genome.wustl.edu 37 19 19645850 19645850 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 19645850 19645850 C T SNP YJEFN3 ENST00000514277 human ensembl 74_37 +1 known missense c.326 p.P109L 0.998 pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors YJEFN3 HGNC ENSG00000250067 293 0 0 69 23 25 POP4 0 genome.wustl.edu 37 19 30101336 30101336 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 30101336 30101336 C T SNP POP4 ENST00000586823 human ensembl 74_37 +1 known missense c.116 p.P39L 0.072 NULL NULL - no_errors POP4 HGNC ENSG00000105171 17 0 0 7 2 22.2222 C19orf12 0 genome.wustl.edu 37 19 30193721 30193721 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 30193721 30193721 G A SNP C19orf12 ENST00000392278 human ensembl 74_37 -1 known silent c.357 p.T119 0.002 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 114 0 0 97 16 14.1593 ANKRD24 0 genome.wustl.edu 37 19 4202867 4202867 + Missense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 4202867 4202867 C A SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.410 p.A137D 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 19 0 0 5 2 28.5714 ZNF226 0 genome.wustl.edu 37 19 44680182 44680182 + Missense_Mutation SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 44680182 44680182 A G SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known missense c.767 p.E256G 0.008 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 ZNF226 HGNC ENSG00000167380 124 0 0 72 10 12.1951 PPM1N 0 genome.wustl.edu 37 19 46003793 46003793 + Silent SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 46003793 46003793 A G SNP PPM1N ENST00000451287 human ensembl 74_37 +1 known silent c.1137 p.L379 0.975 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1N HGNC ENSG00000213889 34 0 0 12 2 14.2857 TPRX1 0 genome.wustl.edu 37 19 48305321 48305321 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 48305321 48305321 G A SNP TPRX1 ENST00000535759 human ensembl 74_37 -1 known missense c.1238 p.S413L 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX1 HGNC ENSG00000178928 69 0 0 25 9 26.4706 MIR520C 0 genome.wustl.edu 37 19 54210785 54210785 + RNA SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 54210785 54210785 C T SNP MIR520C ENST00000385005 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR520C HGNC ENSG00000207738 103 0 0 34 27 44.2623 LILRA3 0 genome.wustl.edu 37 19 54802685 54802685 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 54802685 54802685 G A SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known silent c.756 p.Y252 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 155 0 0 41 23 35.9375 LONP1 0 genome.wustl.edu 37 19 5694792 5694792 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 19 5694792 5694792 G A SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known silent c.2134 p.L712 1.000 superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 166 0 0 29 17 36.9565 BAZ2B 0 genome.wustl.edu 37 2 160303427 160303427 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 160303427 160303427 C G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.562 p.V188L 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 143 0 0 104 11 9.56522 PXDN 0 genome.wustl.edu 37 2 1677555 1677555 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 1677555 1677555 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.878 p.R293H 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 187 0 0 77 22 22.2222 XIRP2 0 genome.wustl.edu 37 2 168105100 168105100 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 168105100 168105100 G C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7198 p.E2400Q 0.978 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 152 0 0 70 9 11.3924 TTN 0 genome.wustl.edu 37 2 179407078 179407078 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 179407078 179407078 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.89701 p.E29901K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 38 0 0 23 3 11.5385 TTN 0 genome.wustl.edu 37 2 179419223 179419223 + Silent SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 179419223 179419223 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.81147 p.G27049 0.244 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 54 0 0 24 9 27.2727 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 125 0 0 42 67 61.4679 WDR35 0 genome.wustl.edu 37 2 20113327 20113327 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 20113327 20113327 C T SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.3538 p.V1180M 0.985 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 186 0 0 94 16 14.5455 DGKD 0 genome.wustl.edu 37 2 234356752 234356752 + Missense_Mutation SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 234356752 234356752 A G SNP DGKD ENST00000264057 human ensembl 74_37 +1 known missense c.1439 p.Y480C 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 201 0 0 38 14 26.9231 ANKRD36B 0 genome.wustl.edu 37 2 98206188 98206188 + RNA SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 98206188 98206188 C G SNP ANKRD36B ENST00000419390 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ANKRD36B HGNC ENSG00000196912 64 0 0 32 3 8.57143 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 150 0 0 43 31 41.8919 YDJC 0 genome.wustl.edu 37 22 21984216 21984216 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 22 21984216 21984216 G C SNP YDJC ENST00000292778 human ensembl 74_37 -1 known missense c.88 p.L30V 1.000 pfam_Uncharacterised_UPF0249/HpnK pfam_Uncharacterised_UPF0249/HpnK - no_errors YDJC HGNC ENSG00000161179 52 0 0 9 3 25 MKL1 0 genome.wustl.edu 37 22 40859227 40859227 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 22 40859227 40859227 G C SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known missense c.5 p.P2R 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 355 0 0 110 9 7.56303 TMEM45A 0 genome.wustl.edu 37 3 100275725 100275725 + Silent SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 3 100275725 100275725 G C SNP TMEM45A ENST00000323523 human ensembl 74_37 +1 known silent c.312 p.L104 0.004 NULL pfam_DUF716_TMEM45 - no_errors TMEM45A HGNC ENSG00000181458 175 0 0 112 18 13.8462 ALG1L 0 genome.wustl.edu 37 3 125648331 125648331 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 3 125648331 125648331 C T SNP ALG1L ENST00000340333 human ensembl 74_37 -1 known missense c.428 p.R143Q 0.198 NULL NULL - no_errors ALG1L HGNC ENSG00000189366 99 0 0 29 20 40.8163 PIK3CB 0 genome.wustl.edu 37 3 138426123 138426123 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 3 138426123 138426123 C T SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.1408 p.E470K 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 46 0 0 37 12 24.4898 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 191 0 0 41 18 30.5085 CCDC71 0 genome.wustl.edu 37 3 49200783 49200783 + Nonsense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 3 49200783 49200783 G A SNP CCDC71 ENST00000321895 human ensembl 74_37 -1 known nonsense c.859 p.R287* 0.002 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 150 0 0 59 9 13.2353 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 305 0 0 53 11 17.1875 PACRGL 0 genome.wustl.edu 37 4 20714515 20714515 + Silent SNP T T A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 4 20714515 20714515 T A SNP PACRGL ENST00000471979 human ensembl 74_37 +1 known silent c.471 p.P157 0.971 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRGL HGNC ENSG00000163138 288 0 0 105 36 25.5319 BRD8 0 genome.wustl.edu 37 5 137488173 137488173 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 137488173 137488173 C T SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.2854 p.E952K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 239 0 0 121 16 11.6788 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 226 1 0.440529 64 40 38.4615 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 229 0 0 57 58 50.4348 PCDHAC1 0 genome.wustl.edu 37 5 140308819 140308819 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 140308819 140308819 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.2342 p.R781Q 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 212 0 0 78 37 32.1739 PCDHB11 0 genome.wustl.edu 37 5 140580416 140580416 + Missense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 140580416 140580416 C A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1069 p.P357T 0.758 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 189 0 0 96 7 6.79612 PCDHGA11 0 genome.wustl.edu 37 5 140803086 140803086 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 140803086 140803086 G A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known silent c.2292 p.S764 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 229 0 0 64 24 27.2727 HAVCR2 0 genome.wustl.edu 37 5 156514152 156514152 + Silent SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 156514152 156514152 T C SNP HAVCR2 ENST00000307851 human ensembl 74_37 -1 known silent c.867 p.Q289 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR2 HGNC ENSG00000135077 131 1 0.757576 35 13 27.0833 MROH2B 0 genome.wustl.edu 37 5 41000403 41000403 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 41000403 41000403 C G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.4401 p.E1467D 0.098 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 84 0 0 46 11 19.2982 NNT 0 genome.wustl.edu 37 5 43653152 43653152 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 43653152 43653152 C T SNP NNT ENST00000264663 human ensembl 74_37 +1 known silent c.1896 p.V632 0.989 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 91 0 0 65 4 5.7971 HCN1 0 genome.wustl.edu 37 5 45303801 45303801 + Silent SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 45303801 45303801 T C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.1518 p.G506 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 171 0 0 122 12 8.95522 COL10A1 0 genome.wustl.edu 37 6 116442804 116442804 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 116442804 116442804 C T SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.475 p.G159R 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 52 0 0 26 7 21.2121 RNF146 0 genome.wustl.edu 37 6 127608243 127608243 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 127608243 127608243 G A SNP RNF146 ENST00000368314 human ensembl 74_37 +1 known missense c.485 p.R162H 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 104 0 0 50 6 10.7143 PTPRK 0 genome.wustl.edu 37 6 128388735 128388735 + Missense_Mutation SNP A A C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 128388735 128388735 A C SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.2086 p.F696V 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 133 0 0 59 10 14.4928 SUMO4 0 genome.wustl.edu 37 6 149721793 149721793 + Missense_Mutation SNP A A C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 149721793 149721793 A C SNP SUMO4 ENST00000326669 human ensembl 74_37 +1 known missense c.266 p.Q89P 1.000 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors SUMO4 HGNC ENSG00000177688 292 0 0 125 13 9.42029 RSPH3 0 genome.wustl.edu 37 6 159401861 159401861 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 159401861 159401861 C T SNP RSPH3 ENST00000252655 human ensembl 74_37 -1 known silent c.1230 p.P410 0.994 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC ENSG00000130363 78 0 0 38 12 24 MLLT4 0 genome.wustl.edu 37 6 168349018 168349018 + Nonsense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 168349018 168349018 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known nonsense c.3670 p.Q1224* 0.998 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 128 0 0 61 4 6.15385 BTN3A3 0 genome.wustl.edu 37 6 26452383 26452383 + Missense_Mutation SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 26452383 26452383 G T SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known missense c.1499 p.R500I 0.127 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 214 1 0.465116 94 28 22.9508 EHMT2 0 genome.wustl.edu 37 6 31864759 31864759 + Missense_Mutation SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 31864759 31864759 G T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.221 p.A74D 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 197 0 0 84 11 11.5789 TNXB 0 genome.wustl.edu 37 6 32029369 32029369 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 32029369 32029369 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.7297 p.V2433I 0.069 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 133 1 0.746269 77 6 7.22892 SYNGAP1 0 genome.wustl.edu 37 6 33410696 33410696 + Silent SNP A A C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 33410696 33410696 A C SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.2367 p.P789 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 237 1 0.420168 95 18 15.9292 KCNQ5 0 genome.wustl.edu 37 6 73900379 73900379 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 6 73900379 73900379 C G SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1691 p.S564C 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 80 0 0 50 18 26.4706 IQUB 0 genome.wustl.edu 37 7 123143002 123143002 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 7 123143002 123143002 G A SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.863 p.T288M 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 156 1 0.636943 66 21 24.1379 GPR37 0 genome.wustl.edu 37 7 124404795 124404795 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 7 124404795 124404795 G A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.236 p.A79V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 65 0 0 22 9 29.0323 GRM8 0 genome.wustl.edu 37 7 126882910 126882910 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 7 126882910 126882910 G C SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.349 p.L117V 0.775 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 110 0 0 52 7 11.8644 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 113 0 0 46 7 13.2075 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 239 1 0.416667 107 39 26.7123 CLIP2 0 genome.wustl.edu 37 7 73771749 73771749 + Missense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 7 73771749 73771749 C A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1157 p.T386K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 89 0 0 10 13 56.5217 BLK 0 genome.wustl.edu 37 8 11406593 11406593 + Silent SNP T T C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 8 11406593 11406593 T C SNP BLK ENST00000259089 human ensembl 74_37 +1 known silent c.330 p.S110 1.000 pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain 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 40 0 0 20 3 13.0435 FGL1 0 genome.wustl.edu 37 8 17743020 17743020 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 8 17743020 17743020 G A SNP FGL1 ENST00000381840 human ensembl 74_37 -1 known missense c.44 p.T15I 0.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL1 HGNC ENSG00000104760 131 0 0 63 9 12.5 NAT2 0 genome.wustl.edu 37 8 18257994 18257994 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 8 18257994 18257994 C T SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known silent c.481 p.L161 1.000 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 116 1 0.854701 88 10 10.2041 PHYHIP 0 genome.wustl.edu 37 8 22085733 22085733 + Missense_Mutation SNP A A C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 8 22085733 22085733 A C SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known missense c.138 p.N46K 0.986 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 91 0 0 28 10 26.3158 RP1 0 genome.wustl.edu 37 8 55533671 55533671 + Missense_Mutation SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 8 55533671 55533671 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.145 p.G49S 0.010 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 140 0 0 83 37 30.8333 TMEM64 0 genome.wustl.edu 37 8 91643833 91643833 + Nonsense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 8 91643833 91643833 C A SNP TMEM64 ENST00000458549 human ensembl 74_37 -1 known nonsense c.898 p.E300* 1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 199 0 0 101 19 15.8333 ZNF189 0 genome.wustl.edu 37 9 104170424 104170424 + Missense_Mutation SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 9 104170424 104170424 A G SNP ZNF189 ENST00000339664 human ensembl 74_37 +1 known missense c.374 p.Q125R 0.061 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF189 HGNC ENSG00000136870 106 0 0 46 7 13.2075 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 178 1 0.558659 48 18 27.2727 MAMDC2 0 genome.wustl.edu 37 9 72785529 72785529 + Missense_Mutation SNP G G C TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 9 72785529 72785529 G C SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.1633 p.D545H 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 70 0 0 28 10 26.3158 DRP2 0 genome.wustl.edu 37 X 100490873 100490873 + Missense_Mutation SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 100490873 100490873 G T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.142 p.A48S 0.635 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 370 0 0 158 18 10.2273 SLC6A14 0 genome.wustl.edu 37 X 115574828 115574828 + Missense_Mutation SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 115574828 115574828 A G SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known missense c.526 p.S176G 0.434 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 47 0 0 40 12 23.0769 TENM1 0 genome.wustl.edu 37 X 123554435 123554435 + Missense_Mutation SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 123554435 123554435 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.4708 p.D1570N 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 72 0 0 57 7 10.9375 TLR7 0 genome.wustl.edu 37 X 12885640 12885640 + RNA SNP C C G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 12885640 12885640 C G SNP TLR7 ENST00000484204 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TLR7 HGNC ENSG00000196664 373 0 0 148 47 24.1026 ATP11C 0 genome.wustl.edu 37 X 138845548 138845548 + Silent SNP G G T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 138845548 138845548 G T SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known silent c.2430 p.G810 0.999 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 70 0 0 45 9 16.6667 GPR50 0 genome.wustl.edu 37 X 150349598 150349598 + Missense_Mutation SNP C C A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 150349598 150349598 C A SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.1543 p.P515T 0.563 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 446 0 0 164 30 15.4639 ACOT9 0 genome.wustl.edu 37 X 23752471 23752471 + Silent SNP T T G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 23752471 23752471 T G SNP ACOT9 ENST00000379303 human ensembl 74_37 -1 known silent c.132 p.I44 0.995 NULL pfam_Thioestr_supf - no_errors ACOT9 HGNC ENSG00000123130 188 0 0 121 41 25.3086 AWAT1 0 genome.wustl.edu 37 X 69454559 69454559 + Missense_Mutation SNP A A G TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 69454559 69454559 A G SNP AWAT1 ENST00000374521 human ensembl 74_37 +1 known missense c.14 p.K5R 0.053 NULL pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 82 0 0 48 6 11.1111 TGIF2LX 0 genome.wustl.edu 37 X 89177654 89177654 + Silent SNP G G A TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 89177654 89177654 G A SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known silent c.570 p.K190 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 101 0 0 58 6 9.375 PCDH19 0 genome.wustl.edu 37 X 99662948 99662948 + Silent SNP C C T TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 99662948 99662948 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.648 p.P216 0.740 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 PCDH19 HGNC ENSG00000165194 243 0 0 94 10 9.61538 PCGF5 0 genome.wustl.edu 37 10 93021088 93021088 + Frame_Shift_Del DEL A A - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 10 93021088 93021088 A - DEL PCGF5 ENST00000336126 human ensembl 74_37 +1 known frame_shift_del c.480 p.M161fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC ENSG00000180628 54 0 0 28 5 15.1515 MUC6 0 genome.wustl.edu 37 11 1016412 1016414 + In_Frame_Del DEL GAG GAG - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 11 1016412 1016414 GAG - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.6389_6387 p.S2130in_frame_del 0.002:0.002:0.018 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 69 0 0 27 4 12.9032 CDC27 0 genome.wustl.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 17 45219612 45219612 A - DEL CDC27 ENST00000531206 human ensembl 74_37 -1 known frame_shift_del c.1379 p.L460fs 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 66 0 0 35 2 5.40541 C1QL2 0 genome.wustl.edu 37 2 119914557 119914557 + Frame_Shift_Del DEL C C - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 2 119914557 119914557 C - DEL C1QL2 ENST00000272520 human ensembl 74_37 -1 known frame_shift_del c.685 p.V229fs 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL2 HGNC ENSG00000144119 292 0 0 118 13 9.92366 TTC14 0 genome.wustl.edu 37 3 180320995 180320995 + Frame_Shift_Del DEL G G - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 3 180320995 180320995 G - DEL TTC14 ENST00000296015 human ensembl 74_37 +1 known frame_shift_del c.370 p.E124fs 1.000 superfamily_NA-bd_OB-fold pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 194 0 0 108 10 8.47458 NFXL1 0 genome.wustl.edu 37 4 47907326 47907327 + Frame_Shift_Del DEL AT AT - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 4 47907326 47907327 AT - DEL NFXL1 ENST00000381538 human ensembl 74_37 -1 known frame_shift_del c.444_443 p.Y148fs 1.000:1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 212 0 0 90 6 6.25 RANBP3L 0 genome.wustl.edu 37 5 36249774 36249777 + Frame_Shift_Del DEL CTGT CTGT - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 5 36249774 36249777 CTGT - DEL RANBP3L ENST00000296604 human ensembl 74_37 -1 known frame_shift_del c.1380_1377 p.R459fs 0.621:0.732:0.769:0.970 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 160 0 0 120 31 20.5298 DDX26B 0 genome.wustl.edu 37 X 134715497 134715497 + Frame_Shift_Del DEL A A - TCGA-CD-8525-01A-11D-2340-08 TCGA-CD-8525-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6b58103d-f934-4cc7-b0c1-68ce4fbbbb5e 2ca85522-f4ea-47ff-aa32-d5adbdbd1ce2 X 134715497 134715497 A - DEL DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_del c.2522 p.I843fs 1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 176 0 0 89 16 15.2381