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 AMY2B 0 genome.wustl.edu 37 1 104120108 104120108 + RNA SNP T T G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 104120108 104120108 T G SNP AMY2B ENST00000481821 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors AMY2B HGNC ENSG00000240038 272 0 0 171 46 21.1982 AMY2B 0 genome.wustl.edu 37 1 104120126 104120126 + Missense_Mutation SNP G G T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 104120126 104120126 G T SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1116 p.W372C 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 261 0 0 185 51 21.6102 OR10J1 0 genome.wustl.edu 37 1 159410369 159410369 + Nonsense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 159410369 159410369 C G SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known nonsense c.821 p.S274* 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC ENSG00000196184 155 0 0 91 6 6.18557 NBPF1 0 genome.wustl.edu 37 1 16903864 16903864 + Missense_Mutation SNP G G T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 16903864 16903864 G T SNP NBPF1 ENST00000432949 human ensembl 74_37 -1 known missense c.226 p.Q76K 0.002 NULL pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 439 0 0 300 57 15.9664 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 312 0 0 97 28 22.4 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 338 0 0 115 62 35.0282 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 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 55 0 0 11 7 38.8889 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 177 1 0.561798 54 20 27.027 OR2T12 0 genome.wustl.edu 37 1 248458178 248458178 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 248458178 248458178 C A SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.703 p.A235S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 101 0 0 88 15 14.5631 PRKAA2 0 genome.wustl.edu 37 1 57140083 57140083 + Missense_Mutation SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 57140083 57140083 G C SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.124 p.V42L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 105 0 0 84 15 15.1515 PCGF6 0 genome.wustl.edu 37 10 105108736 105108736 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 10 105108736 105108736 C G SNP PCGF6 ENST00000369847 human ensembl 74_37 -1 known missense c.381 p.E127D 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF6 HGNC ENSG00000156374 144 0 0 97 16 14.1593 PDCD11 0 genome.wustl.edu 37 10 105202182 105202182 + Silent SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 10 105202182 105202182 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.4920 p.A1640 0.592 smart_HAT pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 209 0 0 56 19 25.3333 TCERG1L 0 genome.wustl.edu 37 10 132944832 132944832 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 10 132944832 132944832 G A SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.1126 p.R376C 0.999 superfamily_WW_dom pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 111 0 0 44 21 32.3077 ENSG00000189332 0 genome.wustl.edu 37 11 18231624 18231624 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 18231624 18231624 G A SNP ENSG00000189332 ENST00000340135 human ensembl 74_37 +1 novel missense c.410 p.G137E 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors RP11-113D6.10 Clone_based_vega_gene ENSG00000189332 91 0 0 54 29 34.9398 OSBPL5 0 genome.wustl.edu 37 11 3114849 3114849 + Silent SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 3114849 3114849 C T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known silent c.1854 p.A618 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 173 0 0 66 4 5.71429 PKP3 0 genome.wustl.edu 37 11 404544 404544 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 404544 404544 G A SNP PKP3 ENST00000331563 human ensembl 74_37 +1 known missense c.2369 p.R790Q 0.997 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 140 0 0 34 18 34.6154 TRIM48 0 genome.wustl.edu 37 11 55036792 55036792 + Missense_Mutation SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 55036792 55036792 G C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.653 p.R218T 0.069 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 79 0 0 57 5 8.06452 TNKS1BP1 0 genome.wustl.edu 37 11 57077351 57077351 + Missense_Mutation SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 57077351 57077351 G C SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.2834 p.A945G 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 301 0 0 169 23 11.9792 OR10V1 0 genome.wustl.edu 37 11 59481026 59481026 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 59481026 59481026 C A SNP OR10V1 ENST00000307552 human ensembl 74_37 -1 known missense c.293 p.C98F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10V1 HGNC ENSG00000172289 84 0 0 27 4 12.9032 CCDC88B 0 genome.wustl.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 64124622 64124622 G A SNP CCDC88B ENST00000359902 human ensembl 74_37 +1 known missense c.1801 p.G601R 0.000 NULL NULL - no_errors CCDC88B HGNC ENSG00000168071 71 0 0 36 3 7.69231 NAALADL1 0 genome.wustl.edu 37 11 64822123 64822123 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 64822123 64822123 C T SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.691 p.E231K 0.413 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 68 0 0 29 9 23.6842 CCDC64 0 genome.wustl.edu 37 12 120502665 120502665 + Silent SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 12 120502665 120502665 C T SNP CCDC64 ENST00000446727 human ensembl 74_37 +1 known silent c.123 p.G41 1.000 NULL NULL - no_errors CCDC64 HGNC ENSG00000135127 301 0 0 132 37 21.8935 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 119 0 0 32 38 54.2857 SMARCC2 0 genome.wustl.edu 37 12 56559122 56559122 + Missense_Mutation SNP A A C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 12 56559122 56559122 A C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.3119 p.V1040G 0.997 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 171 1 0.581395 86 12 12.2449 C12orf56 0 genome.wustl.edu 37 12 64746807 64746807 + Silent SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 12 64746807 64746807 C T SNP C12orf56 ENST00000333722 human ensembl 74_37 -1 known silent c.282 p.S94 0.222 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 138 0 0 80 12 13.0435 GAPDH 0 genome.wustl.edu 37 12 6646936 6646936 + Missense_Mutation SNP G G T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 12 6646936 6646936 G T SNP GAPDH ENST00000229239 human ensembl 74_37 +1 known missense c.712 p.A238S 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 74 0 0 40 7 14.8936 NALCN 0 genome.wustl.edu 37 13 101707679 101707679 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 13 101707679 101707679 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.5185 p.D1729N 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 142 0 0 71 9 11.25 ATP8A2 0 genome.wustl.edu 37 13 26153950 26153950 + Missense_Mutation SNP G G T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 13 26153950 26153950 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.1872 p.L624F 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 155 1 0.641026 43 22 33.8462 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 20 0 0 3 8 72.7273 SNORD114-12 0 genome.wustl.edu 37 14 101435306 101435306 + RNA SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 14 101435306 101435306 C T SNP SNORD114-12 ENST00000365400 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-12 HGNC ENSG00000202270 138 0 0 60 13 17.8082 TTLL5 0 genome.wustl.edu 37 14 76330134 76330134 + Missense_Mutation SNP G G T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 14 76330134 76330134 G T SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.3451 p.A1151S 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 196 0 0 74 25 25.2525 ZNF106 0 genome.wustl.edu 37 15 42743712 42743712 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 15 42743712 42743712 C T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.689 p.R230H 0.645 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 160 0 0 82 50 37.8788 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 95 0 0 39 21 35 FAH 0 genome.wustl.edu 37 15 80450463 80450463 + Missense_Mutation SNP A A G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 15 80450463 80450463 A G SNP FAH ENST00000261755 human ensembl 74_37 +1 known missense c.143 p.H48R 1.000 pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 170 0 0 80 18 18.3673 AATF 0 genome.wustl.edu 37 17 35414006 35414006 + RNA SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 17 35414006 35414006 C T SNP AATF ENST00000587618 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors AATF HGNC ENSG00000108270 39 0 0 28 3 9.67742 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 17 48628510 48628510 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 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 14 9 39.1304 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 69 0 0 12 15 55.5556 CSHL1 0 genome.wustl.edu 37 17 61988595 61988595 + RNA SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 17 61988595 61988595 C T SNP CSHL1 ENST00000558099 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CSHL1 HGNC ENSG00000204414 106 0 0 42 14 25 DVL2 0 genome.wustl.edu 37 17 7133213 7133213 + Silent SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 17 7133213 7133213 G A SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known silent c.570 p.A190 0.973 pfam_Dishevelled_protein_dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 120 0 0 64 12 15.7895 TP53 0 genome.wustl.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 17 7577124 7577124 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.814 p.V272M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 45 0 0 21 9 30 CDC37 0 genome.wustl.edu 37 19 10506724 10506724 + Silent SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 10506724 10506724 G C SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known silent c.258 p.A86 0.182 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 357 1 0.27933 90 25 21.7391 FFAR3 0 genome.wustl.edu 37 19 35850476 35850476 + Silent SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 35850476 35850476 G A SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known silent c.684 p.A228 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 294 0 0 185 39 17.4107 CYP2A6 0 genome.wustl.edu 37 19 41352841 41352841 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 41352841 41352841 C T SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known missense c.770 p.R257H 0.530 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 76 0 0 17 4 19.0476 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 237 0 0 81 55 40.4412 KIR3DX1 0 genome.wustl.edu 37 19 55053753 55053753 + Missense_Mutation SNP A A T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 55053753 55053753 A T SNP KIR3DX1 ENST00000221567 human ensembl 74_37 +1 known missense c.1021 p.S341C 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 95 0 0 43 8 15.6863 ZNF772 0 genome.wustl.edu 37 19 57985198 57985198 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 57985198 57985198 C T SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known missense c.914 p.R305H 0.031 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 ZNF772 HGNC ENSG00000197128 165 0 0 111 95 46.1165 XAB2 0 genome.wustl.edu 37 19 7684501 7684501 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 7684501 7684501 C T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.2539 p.A847T 0.240 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 33 0 0 28 9 24.3243 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 30 0 0 20 2 9.09091 TTN 0 genome.wustl.edu 37 2 179641252 179641252 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 2 179641252 179641252 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5339 p.T1780I 1.000 pfam_Ig_I-set,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 111 0 0 114 17 12.9771 CXCR2P1 0 genome.wustl.edu 37 2 218925419 218925419 + RNA SNP A A T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 2 218925419 218925419 A T SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors CXCR2P1 HGNC ENSG00000229754 145 0 0 58 5 7.93651 AGXT 0 genome.wustl.edu 37 2 241817520 241817520 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 2 241817520 241817520 C A SNP AGXT ENST00000307503 human ensembl 74_37 +1 known missense c.1024 p.H342N 0.096 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 98 0 0 25 3 10.7143 CNNM4 0 genome.wustl.edu 37 2 97474375 97474375 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 2 97474375 97474375 G A SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.2026 p.A676T 0.000 superfamily_cNMP-bd-like pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 114 0 0 47 17 26.5625 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 138 0 0 59 51 46.3636 DESI1 0 genome.wustl.edu 37 22 41997112 41997112 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 22 41997112 41997112 C T SNP DESI1 ENST00000263256 human ensembl 74_37 -1 known missense c.496 p.G166S 1.000 NULL pfam_PPPDE_dom - no_errors DESI1 HGNC ENSG00000100418 41 0 0 11 4 26.6667 CDPF1 0 genome.wustl.edu 37 22 46644115 46644115 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 22 46644115 46644115 G A SNP CDPF1 ENST00000381037 human ensembl 74_37 -1 known missense c.67 p.P23S 0.981 pfam_Cys-rich_DPF,prints_Cys-rich_DPF pfam_Cys-rich_DPF,prints_Cys-rich_DPF - no_errors CDPF1 HGNC ENSG00000205643 47 0 0 24 7 22.5806 GPR171 0 genome.wustl.edu 37 3 150916325 150916325 + Missense_Mutation SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 3 150916325 150916325 G C SNP GPR171 ENST00000309180 human ensembl 74_37 -1 known missense c.849 p.I283M 0.537 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR171 HGNC ENSG00000174946 95 0 0 47 12 20.339 MED12L 0 genome.wustl.edu 37 3 151129252 151129252 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 3 151129252 151129252 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5992 p.Q1998K 1.000 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 137 0 0 75 9 10.7143 LIMD1 0 genome.wustl.edu 37 3 45677682 45677682 + Silent SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 3 45677682 45677682 C G SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1449 p.G483 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 487 0 0 211 51 19.4656 SLC25A20 0 genome.wustl.edu 37 3 48896998 48896998 + Nonsense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 3 48896998 48896998 C A SNP SLC25A20 ENST00000319017 human ensembl 74_37 -1 known nonsense c.598 p.E200* 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A20 HGNC ENSG00000178537 277 0 0 102 12 10.5263 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 180 0 0 59 19 24.359 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 293 0 0 58 34 36.9565 TRAIP 0 genome.wustl.edu 37 3 49867138 49867138 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 3 49867138 49867138 C T SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known missense c.1148 p.G383D 0.973 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 94 0 0 42 9 17.6471 FAM175A 0 genome.wustl.edu 37 4 84383771 84383771 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 4 84383771 84383771 G A SNP FAM175A ENST00000321945 human ensembl 74_37 -1 known missense c.1081 p.R361W 0.108 NULL prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su - no_errors FAM175A HGNC ENSG00000163322 216 0 0 97 41 29.7101 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 203 0 0 67 47 41.2281 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 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 206 0 0 63 65 50.7812 REEP2 0 genome.wustl.edu 37 5 137781275 137781275 + Silent SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 5 137781275 137781275 G A SNP REEP2 ENST00000378339 human ensembl 74_37 +1 known silent c.684 p.A228 0.963 NULL pfam_TB2_DP1_HVA22 - no_errors REEP2 HGNC ENSG00000132563 98 0 0 27 14 34.1463 PCDHB8 0 genome.wustl.edu 37 5 140559227 140559227 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 5 140559227 140559227 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1612 p.G538S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 445 0 0 159 42 20.8955 SYNPO 0 genome.wustl.edu 37 5 150029689 150029689 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 5 150029689 150029689 C T SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known missense c.2584 p.R862C 0.893 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 196 0 0 61 23 27.381 RXFP3 0 genome.wustl.edu 37 5 33938220 33938220 + Missense_Mutation SNP C C A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 5 33938220 33938220 C A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1375 p.R459S 0.954 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 70 0 0 28 9 24.3243 VNN3 0 genome.wustl.edu 37 6 133047896 133047896 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 6 133047896 133047896 G A SNP VNN3 ENST00000207771 human ensembl 74_37 -1 known missense c.791 p.A264V 0.703 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 269 0 0 138 14 9.21053 UTRN 0 genome.wustl.edu 37 6 144858781 144858781 + Missense_Mutation SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 6 144858781 144858781 G C SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.6297 p.W2099C 0.997 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 67 0 0 42 11 20.7547 RPS18 0 genome.wustl.edu 37 6 33244009 33244009 + Silent SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 6 33244009 33244009 G A SNP RPS18 ENST00000439602 human ensembl 74_37 +1 known silent c.348 p.K116 1.000 pfam_Ribosomal_S13,superfamily_Ribosomal_S13-like_H2TH,pirsf_Ribosomal_S13,pfscan_Ribosomal_S13 pfam_Ribosomal_S13,superfamily_Ribosomal_S13-like_H2TH,pirsf_Ribosomal_S13,pfscan_Ribosomal_S13 - no_errors RPS18 HGNC ENSG00000231500 127 0 0 58 8 12.1212 PIM1 0 genome.wustl.edu 37 6 37139029 37139029 + Silent SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 6 37139029 37139029 C G SNP PIM1 ENST00000373509 human ensembl 74_37 +1 known silent c.369 p.P123 0.976 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM1 HGNC ENSG00000137193 392 1 0.254453 192 18 8.57143 PHIP 0 genome.wustl.edu 37 6 79655835 79655835 + Missense_Mutation SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 6 79655835 79655835 G C SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.4513 p.R1505G 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 99 0 0 72 28 28 NOS3 0 genome.wustl.edu 37 7 150706297 150706297 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 7 150706297 150706297 C T SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.2266 p.R756W 0.996 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 109 0 0 41 7 14.5833 PURB 0 genome.wustl.edu 37 7 44924114 44924114 + Missense_Mutation SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 7 44924114 44924114 C G SNP PURB ENST00000395699 human ensembl 74_37 -1 known missense c.834 p.E278D 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURB HGNC ENSG00000146676 297 0 0 157 18 10.2857 FAM135B 0 genome.wustl.edu 37 8 139263141 139263141 + Missense_Mutation SNP G G T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 8 139263141 139263141 G T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.485 p.S162Y 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 221 0 0 104 29 21.8045 CYHR1 0 genome.wustl.edu 37 8 145689777 145689777 + Silent SNP G G C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 8 145689777 145689777 G C SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known silent c.312 p.G104 0.858 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 211 1 0.471698 83 31 27.193 TERF1 0 genome.wustl.edu 37 8 73934526 73934526 + Missense_Mutation SNP A A G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 8 73934526 73934526 A G SNP TERF1 ENST00000276603 human ensembl 74_37 +1 known missense c.613 p.N205D 0.060 pfam_Telomere_rpt-bd_fac_dimer_dom,superfamily_Telomere_rpt-bd_fac_dimer_dom,pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC ENSG00000147601 66 0 0 40 48 54.5455 TNC 0 genome.wustl.edu 37 9 117849170 117849170 + Missense_Mutation SNP G G T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 9 117849170 117849170 G T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.840 p.N280K 0.000 smart_EG-like_dom,pfscan_EG-like_dom 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 TNC HGNC ENSG00000041982 175 0 0 82 25 23.3645 PLIN2 0 genome.wustl.edu 37 9 19120904 19120904 + Missense_Mutation SNP T T C TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 9 19120904 19120904 T C SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known missense c.569 p.Y190C 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 171 0 0 85 16 15.8416 CNTNAP3 0 genome.wustl.edu 37 9 39103860 39103860 + Missense_Mutation SNP A A T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 9 39103860 39103860 A T SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.2417 p.F806Y 1.000 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 CNTNAP3 HGNC ENSG00000106714 38 0 0 28 13 31.7073 PTPRD 0 genome.wustl.edu 37 9 8486014 8486014 + Missense_Mutation SNP C C T TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 9 8486014 8486014 C T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2803 p.V935I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 126 0 0 72 18 20 NLGN4X 0 genome.wustl.edu 37 X 5811225 5811225 + Missense_Mutation SNP G G A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 X 5811225 5811225 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.2144 p.A715V 0.992 prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 169 0 0 79 15 15.9574 SRPX2 0 genome.wustl.edu 37 X 99919931 99919931 + Silent SNP C C G TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 X 99919931 99919931 C G SNP SRPX2 ENST00000373004 human ensembl 74_37 +1 known silent c.516 p.G172 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 70 0 0 20 2 9.09091 ENSG00000203849 0 genome.wustl.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 142713977 142713977 T - DEL ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 11 0 0 9 4 30.7692 JUN 0 genome.wustl.edu 37 1 59247812 59247813 + Frame_Shift_Del DEL TC TC - TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 1 59247812 59247813 TC - DEL JUN ENST00000371222 human ensembl 74_37 -1 known frame_shift_del c.931_930 p.K311fs 1.000:1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 200 0 0 112 16 12.5 CDKN1C 0 genome.wustl.edu 37 11 2906683 2906699 + Frame_Shift_Del DEL CCATCGTGGATGTGCTG CCATCGTGGATGTGCTG - TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 CCATCGTGGATGTGCTG CCATCGTGGATGTGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 11 2906683 2906699 CCATCGTGGATGTGCTG - DEL CDKN1C ENST00000414822 human ensembl 74_37 -1 known frame_shift_del c.37_21 p.S8fs 1.000:1.000:0.982:0.717:0.196:0.111:0.009:0.000:0.000:0.001:0.006:0.427:0.708:0.951:0.998:1.000:1.000 NULL pfam_CDI - no_errors CDKN1C HGNC ENSG00000129757 11 0 0 7 4 36.3636 ZFHX3 0 genome.wustl.edu 37 16 72993774 72993777 + Frame_Shift_Del DEL GGCT GGCT - TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 GGCT GGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 16 72993774 72993777 GGCT - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.271_268 p.L91fs 0.989:0.995:1.000:1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 25 0 0 14 2 12.5 CARM1 0 genome.wustl.edu 37 19 11015670 11015671 + Frame_Shift_Del DEL AG AG - TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 19 11015670 11015671 AG - DEL CARM1 ENST00000327064 human ensembl 74_37 +1 known frame_shift_del c.264_265 p.E89fs 0.198:0.999 pfam_Histone-Arg_MeTrfase_N pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 170 0 0 46 14 23.3333 LCT 0 genome.wustl.edu 37 2 136566777 136566778 + Frame_Shift_Del DEL TC TC - TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 2 136566777 136566778 TC - DEL LCT ENST00000264162 human ensembl 74_37 -1 known frame_shift_del c.3140_3139 p.D1047fs 1.000:1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 131 0 0 66 8 10.8108 LRP2 0 genome.wustl.edu 37 2 170127593 170127594 + Frame_Shift_Ins INS - - A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 2 170127593 170127594 - A INS LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_ins c.2141_2140 p.S714fs 1.000:1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 87 0 0 34 5 12.8205 CDH12 0 genome.wustl.edu 37 5 22078599 22078600 + Frame_Shift_Ins INS - - A TCGA-CD-8526-01A-11D-2340-08 TCGA-CD-8526-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq da9892ce-21ca-435e-a73c-38ba1612bebb bf2b79e2-2d4d-4714-ba49-9da643c998a5 5 22078599 22078600 - A INS CDH12 ENST00000382254 human ensembl 74_37 -1 known frame_shift_ins c.187_186 p.V62fs 1.000:1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 152 0 0 129 10 7.19424