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 SYCP1 0 genome.wustl.edu 37 1 115527485 115527485 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 115527485 115527485 T G SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.2699 p.L900R 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 65 0 0 30 14 31.8182 NGF 0 genome.wustl.edu 37 1 115829179 115829179 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 115829179 115829179 G A SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.238 p.R80W 1.000 pirsf_Nerve_growth_factor-like pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 88 0 0 37 6 13.9535 FLG 0 genome.wustl.edu 37 1 152279959 152279959 + Nonsense_Mutation SNP G G C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 152279959 152279959 G C SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.7403 p.S2468* 0.023 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 813 0 0 721 147 16.9355 PBXIP1 0 genome.wustl.edu 37 1 154926160 154926160 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 154926160 154926160 A C SNP PBXIP1 ENST00000539880 human ensembl 74_37 -1 known missense c.38 p.L13R 1.000 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 44 0 0 28 10 26.3158 FCRL3 0 genome.wustl.edu 37 1 157668284 157668284 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 157668284 157668284 T G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.188 p.K63T 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 193 0 0 115 54 31.9527 CD1E 0 genome.wustl.edu 37 1 158324300 158324300 + Silent SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 158324300 158324300 T C SNP CD1E ENST00000368167 human ensembl 74_37 +1 known silent c.192 p.T64 0.600 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 123 0 0 89 12 11.8812 SPTA1 0 genome.wustl.edu 37 1 158627318 158627318 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 158627318 158627318 C A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2754 p.K918N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 220 0 0 179 41 18.6364 USP21 0 genome.wustl.edu 37 1 161133410 161133410 + Splice_Site SNP G G C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 161133410 161133410 G C SNP USP21 ENST00000289865 human ensembl 74_37 +1 known splice_site c.1114+1 e6+1 1.000 - - - no_errors USP21 HGNC ENSG00000143258 61 0 0 35 16 31.3725 METTL18 0 genome.wustl.edu 37 1 169762587 169762587 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 169762587 169762587 T G SNP METTL18 ENST00000303469 human ensembl 74_37 -1 known missense c.250 p.S84R 0.000 NULL pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL18 HGNC ENSG00000171806 165 0 0 106 46 30.2632 FMO3 0 genome.wustl.edu 37 1 171076927 171076927 + Missense_Mutation SNP G G C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 171076927 171076927 G C SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.433 p.V145L 0.976 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 200 0 0 129 74 36.4532 GPR52 0 genome.wustl.edu 37 1 174418038 174418038 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 174418038 174418038 C T SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known silent c.789 p.Y263 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 255 0 0 168 82 32.8 COLGALT2 0 genome.wustl.edu 37 1 183908121 183908121 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 183908121 183908121 G T SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1655 p.A552E 0.992 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 119 0 0 77 38 33.0435 CFH 0 genome.wustl.edu 37 1 196642135 196642135 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 196642135 196642135 A C SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.86 p.N29T 0.001 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 105 0 0 53 17 24.2857 CFHR4 0 genome.wustl.edu 37 1 196884189 196884189 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 196884189 196884189 C G SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.1458 p.C486W 0.978 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 319 0 0 204 59 22.4335 PTPRC 0 genome.wustl.edu 37 1 198678858 198678858 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 198678858 198678858 T G SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.1076 p.L359R 0.005 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 86 0 0 52 32 38.0952 CENPF 0 genome.wustl.edu 37 1 214819369 214819369 + Silent SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 214819369 214819369 T G SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.6456 p.L2152 0.018 pfam_Centromere_CenpF_leu-rich_rpt pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 169 0 0 98 47 32.4138 USH2A 0 genome.wustl.edu 37 1 216420386 216420386 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 216420386 216420386 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2350 p.F784V 0.979 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 157 0 0 133 32 19.3939 ACTA1 0 genome.wustl.edu 37 1 229567787 229567787 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 229567787 229567787 G A SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known silent c.762 p.N254 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 43 0 0 31 14 31.1111 TARBP1 0 genome.wustl.edu 37 1 234528274 234528274 + Missense_Mutation SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 234528274 234528274 A G SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.4585 p.Y1529H 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 216 0 0 304 44 12.6437 GREM2 0 genome.wustl.edu 37 1 240656630 240656630 + Missense_Mutation SNP A A T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 240656630 240656630 A T SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known missense c.146 p.I49N 1.000 pfam_DAN,pirsf_Gremlin_precursor pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 73 0 0 50 13 20.6349 UBXN11 0 genome.wustl.edu 37 1 26612350 26612350 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 26612350 26612350 G A SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known silent c.738 p.D246 0.546 pfam_SEP_domain,superfamily_SEP_domain pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 71 0 0 36 15 29.4118 COL16A1 0 genome.wustl.edu 37 1 32138096 32138096 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 32138096 32138096 T C SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.3026 p.N1009S 0.444 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 203 0 0 122 40 24.6914 ZMYM4 0 genome.wustl.edu 37 1 35824984 35824984 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 35824984 35824984 C T SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.544 p.R182W 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 55 0 0 66 4 5.71429 MACF1 0 genome.wustl.edu 37 1 39800562 39800562 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 39800562 39800562 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.8413 p.D2805N 0.026 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 162 0 0 109 32 22.695 LEPR 0 genome.wustl.edu 37 1 66101927 66101927 + Silent SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 66101927 66101927 T C SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.2727 p.G909 0.944 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 304 1 0.327869 237 65 21.5232 LRRC40 0 genome.wustl.edu 37 1 70618204 70618204 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 70618204 70618204 C A SNP LRRC40 ENST00000370952 human ensembl 74_37 -1 known missense c.1351 p.V451F 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 110 0 0 59 12 16.9014 ZRANB2 0 genome.wustl.edu 37 1 71536585 71536585 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 71536585 71536585 C T SNP ZRANB2 ENST00000370920 human ensembl 74_37 -1 known missense c.608 p.R203H 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 207 0 0 118 36 23.3766 MSH4 0 genome.wustl.edu 37 1 76378529 76378529 + Missense_Mutation SNP A A T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 76378529 76378529 A T SNP MSH4 ENST00000263187 human ensembl 74_37 +1 known missense c.2768 p.D923V 0.989 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 46 0 0 30 7 18.9189 ZZZ3 0 genome.wustl.edu 37 1 78097749 78097749 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 78097749 78097749 C G SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.1291 p.G431R 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 118 0 0 65 55 45.8333 PKN2 0 genome.wustl.edu 37 1 89271420 89271420 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 89271420 89271420 T C SNP PKN2 ENST00000316005 human ensembl 74_37 +1 novel missense c.1742 p.I581T 0.002 NULL pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom - no_errors PKN2 HGNC ENSG00000065243 30 0 0 17 3 15 EIF3A 0 genome.wustl.edu 37 10 120810145 120810145 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 120810145 120810145 C G SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.2361 p.R787S 0.985 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 358 0 0 150 75 33.3333 NEBL 0 genome.wustl.edu 37 10 21104607 21104607 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 21104607 21104607 T G SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2188 p.S730R 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 148 0 0 102 29 22.1374 MYO3A 0 genome.wustl.edu 37 10 26500919 26500919 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 26500919 26500919 C T SNP MYO3A ENST00000543632 human ensembl 74_37 +1 known missense c.1924 p.R642W 0.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 36 0 0 11 9 45 ANKRD30A 0 genome.wustl.edu 37 10 37482012 37482012 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 37482012 37482012 T G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2365 p.F789V 0.003 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 224 1 0.444444 142 34 19.3182 HSD17B7P2 0 genome.wustl.edu 37 10 38652434 38652434 + RNA SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 38652434 38652434 C T SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 61 0 0 19 27 58.6957 PCDH15 0 genome.wustl.edu 37 10 55626456 55626456 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 55626456 55626456 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3663 p.Q1221H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 136 0 0 31 20 39.2157 ARID5B 0 genome.wustl.edu 37 10 63852409 63852409 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 63852409 63852409 G A SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.3187 p.G1063R 0.297 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 128 0 0 37 26 41.2698 ACTA2 0 genome.wustl.edu 37 10 90708675 90708675 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 90708675 90708675 C G SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.13 p.E5Q 1.000 pfam_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 146 0 0 36 33 47.8261 POU2F3 0 genome.wustl.edu 37 11 120180199 120180199 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 120180199 120180199 G A SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known silent c.978 p.V326 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 85 0 0 49 24 32.8767 OR6X1 0 genome.wustl.edu 37 11 123624580 123624580 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 123624580 123624580 T C SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known missense c.647 p.Y216C 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 195 0 0 86 49 36.2963 NELL1 0 genome.wustl.edu 37 11 20949921 20949921 + Splice_Site SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 20949921 20949921 A G SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known splice_site c.895-2 e9-2 1.000 - - - no_errors NELL1 HGNC ENSG00000165973 174 0 0 51 40 43.956 OR4C3 0 genome.wustl.edu 37 11 48346846 48346846 + Silent SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 48346846 48346846 T G SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known silent c.354 p.S118 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 590 0 0 337 33 8.91892 OR51A4 0 genome.wustl.edu 37 11 4967855 4967855 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 4967855 4967855 A C SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.476 p.L159R 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 557 0 0 362 69 16.0093 OR52A5 0 genome.wustl.edu 37 11 5153446 5153446 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 5153446 5153446 A C SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.427 p.L143V 0.000 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 OR52A5 HGNC ENSG00000171944 84 0 0 39 39 50 HBE1 0 genome.wustl.edu 37 11 5289717 5289717 + Silent SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 5289717 5289717 C G SNP HBE1 ENST00000292896 human ensembl 74_37 -1 known silent c.426 p.L142 1.000 superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBE1 HGNC ENSG00000213931 196 0 0 83 53 38.9706 TRIM51 0 genome.wustl.edu 37 11 55658885 55658885 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 55658885 55658885 T G SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.1136 p.L379R 0.819 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 133 0 0 72 18 20 OR5I1 0 genome.wustl.edu 37 11 55703186 55703186 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 55703186 55703186 G A SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.691 p.R231C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 40 0 0 17 12 41.3793 OR52E4 0 genome.wustl.edu 37 11 5905963 5905963 + Silent SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 5905963 5905963 T G SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known silent c.441 p.A147 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 OR52E4 HGNC ENSG00000180974 199 0 0 78 72 48 TBX10 0 genome.wustl.edu 37 11 67399229 67399229 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 67399229 67399229 C T SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known silent c.1005 p.P335 0.010 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX10 HGNC ENSG00000167800 18 0 0 4 7 63.6364 OR2D3 0 genome.wustl.edu 37 11 6942465 6942465 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 6942465 6942465 T G SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.233 p.F78C 1.000 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 OR2D3 HGNC ENSG00000178358 293 1 0.340136 186 28 13.0841 FOLH1B 0 genome.wustl.edu 37 11 89402649 89402649 + RNA SNP T T A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 89402649 89402649 T A SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors FOLH1B HGNC ENSG00000134612 124 0 0 55 29 34.5238 FAT3 0 genome.wustl.edu 37 11 92533693 92533693 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 92533693 92533693 T C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7514 p.V2505A 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 61 0 0 36 9 20 AMOTL1 0 genome.wustl.edu 37 11 94532886 94532886 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 11 94532886 94532886 G A SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known missense c.530 p.R177Q 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 68 0 0 31 5 13.8889 DAO 0 genome.wustl.edu 37 12 109294277 109294277 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 109294277 109294277 A C SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.1010 p.K337T 0.992 NULL pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 119 0 0 56 43 43.4343 RBM19 0 genome.wustl.edu 37 12 114397059 114397059 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 114397059 114397059 C G SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.529 p.G177R 0.998 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 268 0 0 119 19 13.7681 RIMBP2 0 genome.wustl.edu 37 12 130884319 130884319 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 130884319 130884319 A C SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.3037 p.F1013V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 134 1 0.740741 49 40 44.9438 SLCO1B3 0 genome.wustl.edu 37 12 21033859 21033859 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 21033859 21033859 A C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1402 p.S468R 0.003 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 264 0 0 157 19 10.7955 SLCO1B7 0 genome.wustl.edu 37 12 21205069 21205069 + Silent SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 21205069 21205069 T G SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known silent c.1371 p.S457 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 131 0 0 79 42 34.7107 ESPL1 0 genome.wustl.edu 37 12 53686075 53686075 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 53686075 53686075 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.5810 p.P1937L 0.060 pfam_Peptidase_C50 pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 122 0 0 54 35 39.3258 OR6C3 0 genome.wustl.edu 37 12 55725817 55725817 + Silent SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 55725817 55725817 T C SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known silent c.333 p.I111 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C3 HGNC ENSG00000205329 313 0 0 164 123 42.8571 PTPRB 0 genome.wustl.edu 37 12 70918302 70918302 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 70918302 70918302 C G SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.6574 p.E2192Q 1.000 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 61 0 0 34 10 22.7273 LIN7A 0 genome.wustl.edu 37 12 81283099 81283099 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 81283099 81283099 T G SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known missense c.132 p.E44D 0.998 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 83 0 0 56 17 23.2877 ATP2B1 0 genome.wustl.edu 37 12 90017964 90017964 + Missense_Mutation SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 90017964 90017964 A G SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.1340 p.V447A 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 73 0 0 44 38 46.3415 PHC1 0 genome.wustl.edu 37 12 9070318 9070318 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 9070318 9070318 T G SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.45 p.S15R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 38 0 0 26 4 13.3333 KLRG1 0 genome.wustl.edu 37 12 9162129 9162129 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 9162129 9162129 T G SNP KLRG1 ENST00000356986 human ensembl 74_37 +1 known missense c.566 p.L189R 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG1 HGNC ENSG00000139187 122 0 0 99 20 16.8067 CLEC2D 0 genome.wustl.edu 37 12 9847365 9847365 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 9847365 9847365 C T SNP CLEC2D ENST00000261340 human ensembl 74_37 +1 known missense c.553 p.P185S 0.001 smart_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2D HGNC ENSG00000069493 88 0 0 31 21 40.3846 CD69 0 genome.wustl.edu 37 12 9907796 9907796 + Silent SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 12 9907796 9907796 A C SNP CD69 ENST00000228434 human ensembl 74_37 -1 known silent c.249 p.S83 0.091 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD69 HGNC ENSG00000110848 150 1 0.662252 98 24 19.6721 B3GALTL 0 genome.wustl.edu 37 13 31803342 31803342 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 13 31803342 31803342 G A SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known missense c.181 p.V61I 1.000 NULL pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 76 0 0 34 13 27.6596 DCLK1 0 genome.wustl.edu 37 13 36686298 36686298 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 13 36686298 36686298 T C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.431 p.K144R 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 144 0 0 70 21 23.0769 OLFM4 0 genome.wustl.edu 37 13 53624669 53624669 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 13 53624669 53624669 C T SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known silent c.1296 p.N432 0.792 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 189 0 0 86 37 30.0813 EDNRB 0 genome.wustl.edu 37 13 78475270 78475270 + Missense_Mutation SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 13 78475270 78475270 A G SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.874 p.F292L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 142 0 0 64 26 28.8889 EDNRB 0 genome.wustl.edu 37 13 78492440 78492440 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 13 78492440 78492440 C T SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.269 p.C90Y 1.000 prints_Endthln_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 142 0 0 64 21 24.7059 SLITRK6 0 genome.wustl.edu 37 13 86370123 86370123 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 13 86370123 86370123 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.521 p.S174N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 251 0 0 120 55 31.4286 PPP1R13B 0 genome.wustl.edu 37 14 104219502 104219502 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 14 104219502 104219502 G T SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.663 p.F221L 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 257 0 0 133 88 39.819 PNN 0 genome.wustl.edu 37 14 39649857 39649857 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 14 39649857 39649857 G A SNP PNN ENST00000216832 human ensembl 74_37 +1 known missense c.944 p.R315Q 1.000 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 32 0 0 16 12 42.8571 MDGA2 0 genome.wustl.edu 37 14 47601018 47601018 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 14 47601018 47601018 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.824 p.L275R 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 45 0 0 15 22 59.4595 ESR2 0 genome.wustl.edu 37 14 64699876 64699876 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 14 64699876 64699876 G A SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known silent c.1572 p.S524 0.978 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 132 0 0 78 22 22 TRIP11 0 genome.wustl.edu 37 14 92471267 92471267 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 14 92471267 92471267 G A SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.3053 p.T1018M 0.998 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 89 0 0 65 17 20.7317 SERPINA3 0 genome.wustl.edu 37 14 95089967 95089967 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 14 95089967 95089967 T G SNP SERPINA3 ENST00000393078 human ensembl 74_37 +1 known missense c.1088 p.L363R 0.807 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 144 0 0 47 29 38.1579 ATP10A 0 genome.wustl.edu 37 15 25928482 25928482 + Missense_Mutation SNP T T A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 25928482 25928482 T A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3443 p.N1148I 0.003 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,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 ATP10A HGNC ENSG00000206190 109 0 0 50 16 24.2424 TRPM1 0 genome.wustl.edu 37 15 31295126 31295126 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 31295126 31295126 G A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.3828 p.I1276 0.053 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 159 0 0 37 69 65.0943 DPH6 0 genome.wustl.edu 37 15 35814440 35814440 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 35814440 35814440 G T SNP DPH6 ENST00000440392 human ensembl 74_37 -1 known missense c.352 p.L118M 1.000 NULL pfam_DUF71_dom - no_errors DPH6 HGNC ENSG00000134146 55 0 0 21 5 19.2308 SPTBN5 0 genome.wustl.edu 37 15 42154357 42154357 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 42154357 42154357 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.7519 p.R2507C 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 20 0 0 6 5 45.4545 CDAN1 0 genome.wustl.edu 37 15 43019870 43019870 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 43019870 43019870 G A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known silent c.3045 p.R1015 0.992 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 34 0 0 3 24 88.8889 MAP1A 0 genome.wustl.edu 37 15 43815290 43815290 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 43815290 43815290 G A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.1619 p.R540H 0.966 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 202 0 0 59 59 50 COPS2 0 genome.wustl.edu 37 15 49426269 49426269 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 49426269 49426269 A C SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.773 p.F258C 1.000 smart_PAM pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 122 0 0 16 88 84.6154 PARP6 0 genome.wustl.edu 37 15 72556894 72556894 + Splice_Site SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 72556894 72556894 A G SNP PARP6 ENST00000287196 human ensembl 74_37 -1 known splice_site c.395+2 e6+2 1.000 - - - no_errors PARP6 HGNC ENSG00000137817 156 0 0 87 29 25 ACAN 0 genome.wustl.edu 37 15 89401172 89401172 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 15 89401172 89401172 A C SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.5356 p.S1786R 0.982 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 88 0 0 44 20 31.25 ATF7IP2 0 genome.wustl.edu 37 16 10551372 10551372 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 16 10551372 10551372 G T SNP ATF7IP2 ENST00000356427 human ensembl 74_37 +1 known missense c.1338 p.K446N 0.017 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ENSG00000166669 190 0 0 117 72 38.0952 KIAA0430 0 genome.wustl.edu 37 16 15705584 15705584 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 16 15705584 15705584 C T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.3482 p.G1161E 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 93 0 0 72 14 16.2791 TPPP3 0 genome.wustl.edu 37 16 67424889 67424889 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 16 67424889 67424889 G A SNP TPPP3 ENST00000290942 human ensembl 74_37 -1 known silent c.126 p.C42 1.000 pfam_P25-alpha pfam_P25-alpha - no_errors TPPP3 HGNC ENSG00000159713 89 0 0 60 4 6.25 ENSG00000263126 0 genome.wustl.edu 37 16 67918061 67918061 + RNA SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 16 67918061 67918061 C G SNP ENSG00000263126 ENST00000572067 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 33 0 0 13 9 40.9091 WWOX 0 genome.wustl.edu 37 16 78466499 78466499 + Silent SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 16 78466499 78466499 C G SNP WWOX ENST00000566780 human ensembl 74_37 +1 known silent c.906 p.L302 0.984 NULL pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 174 0 0 100 75 42.8571 CCDC144CP 0 genome.wustl.edu 37 17 20239322 20239322 + RNA SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 17 20239322 20239322 T G SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors CCDC144CP HGNC ENSG00000154898 207 0 0 146 37 20.2186 UBBP4 0 genome.wustl.edu 37 17 21731513 21731513 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 17 21731513 21731513 C G SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.588 p.I196M 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 81 0 0 39 16 29.0909 CORO6 0 genome.wustl.edu 37 17 27944531 27944531 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 17 27944531 27944531 C A SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known missense c.740 p.G247V 1.000 superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 57 0 0 23 19 45.2381 CPD 0 genome.wustl.edu 37 17 28769455 28769455 + Missense_Mutation SNP A A T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 17 28769455 28769455 A T SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.2360 p.Q787L 1.000 smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 133 0 0 113 1605 93.4226 KRT28 0 genome.wustl.edu 37 17 38950093 38950093 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 17 38950093 38950093 T C SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.1184 p.D395G 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 255 0 0 203 3083 93.8223 FHOD3 0 genome.wustl.edu 37 18 34349283 34349283 + Missense_Mutation SNP T T A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 18 34349283 34349283 T A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.4131 p.D1377E 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 146 0 0 64 25 28.0899 PIK3C3 0 genome.wustl.edu 37 18 39607420 39607420 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 18 39607420 39607420 G A SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.1498 p.E500K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 111 0 0 61 24 28.2353 DCC 0 genome.wustl.edu 37 18 50832036 50832036 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 18 50832036 50832036 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.2000 p.R667H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 129 0 0 9 66 88 NETO1 0 genome.wustl.edu 37 18 70532875 70532875 + RNA SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 18 70532875 70532875 G T SNP NETO1 ENST00000580049 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NETO1 HGNC ENSG00000166342 12 0 0 10 2 16.6667 ZNF791 0 genome.wustl.edu 37 19 12738763 12738763 + Silent SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 12738763 12738763 C G SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known silent c.420 p.A140 0.116 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 ZNF791 HGNC ENSG00000173875 177 0 0 68 89 56.6879 ZNF208 0 genome.wustl.edu 37 19 22156121 22156121 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 22156121 22156121 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1715 p.K572T 0.001 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 ZNF208 HGNC ENSG00000160321 95 0 0 35 11 23.913 ZNF208 0 genome.wustl.edu 37 19 22156323 22156323 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 22156323 22156323 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1513 p.A505S 0.066 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 146 1 0.680272 64 28 30.4348 ZNF536 0 genome.wustl.edu 37 19 30934928 30934928 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 30934928 30934928 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.459 p.T153 0.002 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 100 0 0 49 20 28.9855 RYR1 0 genome.wustl.edu 37 19 39066574 39066574 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 39066574 39066574 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.14145 p.N4715 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 149 0 0 39 51 56.6667 MEGF8 0 genome.wustl.edu 37 19 42880436 42880436 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 42880436 42880436 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.8047 p.R2683C 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 15 0 0 1 2 66.6667 MIR521-1 0 genome.wustl.edu 37 19 54251945 54251945 + RNA SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 54251945 54251945 C T SNP MIR521-1 ENST00000384902 human ensembl 74_37 +1 known rna NULL NULL 0.160 - - - no_errors MIR521-1 HGNC ENSG00000207634 156 0 0 78 29 27.1028 NLRP2 0 genome.wustl.edu 37 19 55494614 55494614 + Silent SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 55494614 55494614 C A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.1548 p.T516 0.001 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 163 0 0 18 82 82 ZNF329 0 genome.wustl.edu 37 19 58639803 58639803 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 58639803 58639803 C T SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known silent c.1068 p.S356 0.571 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 149 0 0 98 33 25.1908 KHSRP 0 genome.wustl.edu 37 19 6420084 6420084 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 6420084 6420084 C A SNP KHSRP ENST00000398148 human ensembl 74_37 -1 known missense c.547 p.D183Y 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 40 0 0 32 2 5.88235 MUC16 0 genome.wustl.edu 37 19 9089223 9089223 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 9089223 9089223 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.2592 p.E864D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 78 0 0 26 38 59.375 ZNF559 0 genome.wustl.edu 37 19 9449168 9449168 + Splice_Site SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 19 9449168 9449168 A G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.001 - - - no_errors ZNF559 HGNC ENSG00000188321 78 0 0 28 19 40.4255 GYPC 0 genome.wustl.edu 37 2 127453545 127453545 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 127453545 127453545 G A SNP GYPC ENST00000259254 human ensembl 74_37 +1 known missense c.214 p.V72I 0.965 NULL smart_Neurexin-like - no_errors GYPC HGNC ENSG00000136732 212 0 0 121 32 20.915 MGAT5 0 genome.wustl.edu 37 2 135199405 135199405 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 135199405 135199405 G T SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.1946 p.C649F 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 168 1 0.591716 71 24 25.2632 MAP3K19 0 genome.wustl.edu 37 2 135745059 135745059 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 135745059 135745059 G A SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known silent c.1383 p.S461 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 282 0 0 162 59 26.6968 LRP1B 0 genome.wustl.edu 37 2 141122309 141122309 + Silent SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 141122309 141122309 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.11052 p.S3684 0.996 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 198 0 0 57 64 52.8926 TPO 0 genome.wustl.edu 37 2 1499798 1499798 + Nonsense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 1499798 1499798 C T SNP TPO ENST00000329066 human ensembl 74_37 +1 known nonsense c.2044 p.Q682* 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 44 0 0 29 8 21.6216 NEB 0 genome.wustl.edu 37 2 152499752 152499752 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 152499752 152499752 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.8072 p.R2691H 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 237 0 0 145 80 35.5556 PLA2R1 0 genome.wustl.edu 37 2 160901447 160901447 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 160901447 160901447 C T SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.331 p.V111I 0.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 137 0 0 65 49 42.9825 KCNH7 0 genome.wustl.edu 37 2 163253359 163253359 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 163253359 163253359 T G SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.2504 p.K835T 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 107 0 0 68 51 42.8571 XIRP2 0 genome.wustl.edu 37 2 167992437 167992437 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 167992437 167992437 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.427 p.S143R 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 126 0 0 63 38 37.6238 B3GALT1 0 genome.wustl.edu 37 2 168726351 168726351 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 168726351 168726351 G T SNP B3GALT1 ENST00000305861 human ensembl 74_37 +1 known missense c.802 p.V268L 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 127 0 0 58 60 50.8475 CHN1 0 genome.wustl.edu 37 2 175779816 175779816 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 175779816 175779816 C T SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known missense c.230 p.R77Q 1.000 pfam_SH2,smart_SH2,pirsf_N-chimaerin,pfscan_SH2 pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 34 0 0 15 3 16.6667 TTN 0 genome.wustl.edu 37 2 179478896 179478896 + Missense_Mutation SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 179478896 179478896 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.41524 p.F13842L 0.997 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 57 0 0 44 9 16.9811 KCNS3 0 genome.wustl.edu 37 2 18112836 18112836 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 18112836 18112836 C T SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known silent c.561 p.I187 0.032 prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 73 0 0 40 22 35.4839 ERBB4 0 genome.wustl.edu 37 2 212251753 212251753 + Silent SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 212251753 212251753 A G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known silent c.3306 p.F1102 0.978 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 180 0 0 16 61 79.2208 VWC2L 0 genome.wustl.edu 37 2 215301358 215301358 + Silent SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 215301358 215301358 T C SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known silent c.396 p.S132 1.000 smart_VWF_C,pfscan_VWF_C smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 75 0 0 12 19 61.2903 SP100 0 genome.wustl.edu 37 2 231313845 231313845 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 231313845 231313845 C T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.566 p.S189L 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 147 0 0 75 72 48.9796 LTBP1 0 genome.wustl.edu 37 2 33585711 33585711 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 33585711 33585711 T C SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.4051 p.Y1351H 1.000 superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 138 0 0 79 72 47.6821 HK2 0 genome.wustl.edu 37 2 75061723 75061723 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 75061723 75061723 C T SNP HK2 ENST00000290573 human ensembl 74_37 +1 known silent c.16 p.L6 1.000 NULL pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 85 0 0 44 15 25.4237 RNF103 0 genome.wustl.edu 37 2 86839315 86839315 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 86839315 86839315 C A SNP RNF103 ENST00000237455 human ensembl 74_37 -1 known missense c.449 p.R150L 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 161 0 0 95 23 19.4915 FRG1B 0 genome.wustl.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 20 29625956 29625956 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.200 p.R67K 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 188 0 0 141 11 7.23684 SLC4A11 0 genome.wustl.edu 37 20 3214855 3214855 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 20 3214855 3214855 C A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.526 p.D176Y 1.000 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 195 0 0 119 66 35.6757 FITM2 0 genome.wustl.edu 37 20 42935377 42935377 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 20 42935377 42935377 C A SNP FITM2 ENST00000396825 human ensembl 74_37 -1 known missense c.677 p.G226V 0.999 pfam_FIT pfam_FIT - no_errors FITM2 HGNC ENSG00000197296 124 0 0 180 10 5.26316 KCNK15 0 genome.wustl.edu 37 20 43379120 43379120 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 20 43379120 43379120 G A SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known missense c.634 p.E212K 0.997 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 108 0 0 146 16 9.87654 SLC12A5 0 genome.wustl.edu 37 20 44670087 44670087 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 20 44670087 44670087 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.1043 p.R348H 0.953 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 179 0 0 151 85 36.0169 SALL4 0 genome.wustl.edu 37 20 50408026 50408026 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 20 50408026 50408026 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.996 p.S332 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 104 0 0 51 100 66.2252 GMEB2 0 genome.wustl.edu 37 20 62221495 62221495 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 20 62221495 62221495 G A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.1540 p.H514Y 0.999 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 75 0 0 45 16 26.2295 ADAMTS5 0 genome.wustl.edu 37 21 28306878 28306878 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 21 28306878 28306878 C G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1596 p.K532N 1.000 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 113 0 0 48 9 15.7895 MYH9 0 genome.wustl.edu 37 22 36698672 36698672 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 22 36698672 36698672 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.2441 p.R814Q 1.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 108 0 0 54 15 21.7391 TST 0 genome.wustl.edu 37 22 37414492 37414492 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 22 37414492 37414492 C T SNP TST ENST00000249042 human ensembl 74_37 -1 known silent c.282 p.T94 0.739 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 48 0 0 25 2 7.40741 MIEF1 0 genome.wustl.edu 37 22 39909637 39909637 + Missense_Mutation SNP G G C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 22 39909637 39909637 G C SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.701 p.R234P 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 95 0 0 55 20 26.6667 CACNA1I 0 genome.wustl.edu 37 22 40055853 40055853 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 22 40055853 40055853 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2618 p.A873V 0.999 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 106 0 0 31 29 48.3333 EFCAB6 0 genome.wustl.edu 37 22 44168845 44168845 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 22 44168845 44168845 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.278 p.S93N 0.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 153 0 0 83 27 24.5455 ZBED4 0 genome.wustl.edu 37 22 50278064 50278064 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 22 50278064 50278064 G A SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.754 p.V252M 0.001 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 213 0 0 87 28 24.3478 NCAPH2 0 genome.wustl.edu 37 22 50956614 50956614 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 22 50956614 50956614 G A SNP NCAPH2 ENST00000299821 human ensembl 74_37 +1 known missense c.553 p.V185I 0.799 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 104 1 0.952381 40 11 21.5686 STXBP5L 0 genome.wustl.edu 37 3 121126281 121126281 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 121126281 121126281 A C SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2851 p.I951L 1.000 pfam_Lgl_C_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 168 0 0 80 32 28.5714 NR1D2 0 genome.wustl.edu 37 3 23996233 23996233 + Silent SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 23996233 23996233 T C SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known silent c.222 p.C74 0.918 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 168 0 0 87 44 33.5878 SLC25A38 0 genome.wustl.edu 37 3 39433036 39433036 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 39433036 39433036 C T SNP SLC25A38 ENST00000273158 human ensembl 74_37 +1 known silent c.381 p.V127 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 404 0 0 206 93 31.1037 IP6K1 0 genome.wustl.edu 37 3 49764884 49764884 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 49764884 49764884 T C SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.997 p.S333G 1.000 pfam_IPK pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 109 0 0 46 15 24.5902 GNAT1 0 genome.wustl.edu 37 3 50231619 50231619 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 50231619 50231619 G A SNP GNAT1 ENST00000232461 human ensembl 74_37 +1 known missense c.673 p.A225T 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 44 0 0 20 6 23.0769 PARP3 0 genome.wustl.edu 37 3 51980232 51980232 + Nonsense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 51980232 51980232 G A SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known nonsense c.1170 p.W390* 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 105 1 0.943396 44 17 27.8689 CACNA1D 0 genome.wustl.edu 37 3 53777132 53777132 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 53777132 53777132 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.2966 p.S989L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 273 0 0 77 73 48.6667 ROBO2 0 genome.wustl.edu 37 3 77600056 77600056 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 77600056 77600056 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1147 p.R383C 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 131 1 0.757576 57 23 28.75 GBE1 0 genome.wustl.edu 37 3 81640313 81640313 + Nonsense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 3 81640313 81640313 G A SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known nonsense c.1111 p.Q371* 0.016 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 21 0 0 9 6 40 ETNPPL 0 genome.wustl.edu 37 4 109674150 109674150 + Silent SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 109674150 109674150 A C SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known silent c.519 p.T173 0.877 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 155 0 0 84 32 27.5862 FGF2 0 genome.wustl.edu 37 4 123813510 123813510 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 123813510 123813510 C A SNP FGF2 ENST00000264498 human ensembl 74_37 +1 known missense c.826 p.Q276K 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF2 HGNC ENSG00000138685 280 2 0.70922 157 38 19.4872 FAT4 0 genome.wustl.edu 37 4 126370110 126370110 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 126370110 126370110 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.7939 p.P2647S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 68 0 0 10 54 84.375 PCDH10 0 genome.wustl.edu 37 4 134072011 134072011 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 134072011 134072011 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.716 p.R239Q 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 154 0 0 53 24 31.1688 RNF175 0 genome.wustl.edu 37 4 154644505 154644505 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 154644505 154644505 G T SNP RNF175 ENST00000347063 human ensembl 74_37 -1 known missense c.507 p.F169L 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF175 HGNC ENSG00000145428 22 0 0 10 5 33.3333 SFRP2 0 genome.wustl.edu 37 4 154702901 154702901 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 154702901 154702901 T G SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known missense c.590 p.K197T 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 308 0 0 166 68 29.0598 GUCY1A3 0 genome.wustl.edu 37 4 156651353 156651353 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 156651353 156651353 T G SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.2043 p.N681K 0.976 NULL pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 118 0 0 52 14 21.2121 KLHL2 0 genome.wustl.edu 37 4 166243340 166243340 + RNA SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 166243340 166243340 G A SNP KLHL2 ENST00000509028 human ensembl 74_37 +1 known rna NULL NULL 0.737 - - - no_errors KLHL2 HGNC ENSG00000109466 38 0 0 7 10 58.8235 EVC2 0 genome.wustl.edu 37 4 5699368 5699368 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 5699368 5699368 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.235 p.P79S 0.001 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 113 0 0 59 4 6.34921 UNC5C 0 genome.wustl.edu 37 4 96123915 96123915 + Silent SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 4 96123915 96123915 G T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known silent c.2103 p.V701 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 90 0 0 40 16 28.5714 PPIP5K2 0 genome.wustl.edu 37 5 102465386 102465386 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 102465386 102465386 C G SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known missense c.93 p.D31E 0.222 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 95 0 0 13 33 71.7391 CTNND2 0 genome.wustl.edu 37 5 11364954 11364954 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 11364954 11364954 T C SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1226 p.E409G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 141 0 0 137 14 9.27152 GRXCR2 0 genome.wustl.edu 37 5 145246082 145246082 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 145246082 145246082 G A SNP GRXCR2 ENST00000377976 human ensembl 74_37 -1 known silent c.546 p.P182 0.001 NULL NULL - no_errors GRXCR2 HGNC ENSG00000204928 225 0 0 74 39 34.5133 MYO10 0 genome.wustl.edu 37 5 16676142 16676142 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 16676142 16676142 T C SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.4664 p.N1555S 0.997 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 210 0 0 250 39 13.4948 CDH18 0 genome.wustl.edu 37 5 19747287 19747287 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 19747287 19747287 C T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.287 p.G96D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 152 0 0 171 50 22.6244 CDH12 0 genome.wustl.edu 37 5 21783540 21783540 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 21783540 21783540 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known silent c.1320 p.T440 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 256 0 0 309 49 13.6872 RXFP3 0 genome.wustl.edu 37 5 33937978 33937978 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 33937978 33937978 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1133 p.A378V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 167 0 0 159 50 23.9234 NUP155 0 genome.wustl.edu 37 5 37364386 37364386 + Silent SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 37364386 37364386 T C SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known silent c.258 p.R86 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 132 0 0 179 20 10.0503 MROH2B 0 genome.wustl.edu 37 5 41061700 41061700 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 41061700 41061700 T G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.587 p.K196T 0.349 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 374 1 0.266667 439 133 23.2517 OXCT1 0 genome.wustl.edu 37 5 41803250 41803250 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 41803250 41803250 C G SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known missense c.971 p.G324A 1.000 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 144 0 0 200 32 13.7931 FASTKD3 0 genome.wustl.edu 37 5 7866882 7866882 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 7866882 7866882 G T SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known missense c.1315 p.H439N 0.007 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 144 0 0 142 20 12.3457 SEMA5A 0 genome.wustl.edu 37 5 9066715 9066715 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 9066715 9066715 T G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2117 p.K706T 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 212 0 0 261 39 13 MCTP1 0 genome.wustl.edu 37 5 94248669 94248669 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 94248669 94248669 T G SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.1363 p.S455R 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 384 1 0.25974 33 146 81.5642 RGMB 0 genome.wustl.edu 37 5 98128977 98128977 + Silent SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 5 98128977 98128977 C A SNP RGMB ENST00000308234 human ensembl 74_37 +1 known silent c.957 p.T319 0.994 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 52 0 0 22 3 12 PRDM13 0 genome.wustl.edu 37 6 100062499 100062499 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 100062499 100062499 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known missense c.1988 p.G663D 0.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 67 0 0 42 3 6.66667 RFPL4B 0 genome.wustl.edu 37 6 112671628 112671628 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 112671628 112671628 C G SNP RFPL4B ENST00000441065 human ensembl 74_37 +1 known missense c.718 p.L240V 0.041 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC ENSG00000251258 150 0 0 109 26 19.2593 ENSG00000187461 0 genome.wustl.edu 37 6 13470336 13470336 + Silent SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 13470336 13470336 A C SNP ENSG00000187461 ENST00000558378 human ensembl 74_37 -1 novel silent c.177 p.G59 0.000 NULL NULL - no_errors AL583828.1 Clone_based_ensembl_gene ENSG00000187461 71 0 0 35 39 52.7027 NUP43 0 genome.wustl.edu 37 6 150048162 150048162 + Nonsense_Mutation SNP A A T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 150048162 150048162 A T SNP NUP43 ENST00000340413 human ensembl 74_37 -1 known nonsense c.1086 p.C362* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 98 0 0 87 18 17.1429 ULBP1 0 genome.wustl.edu 37 6 150290326 150290326 + Missense_Mutation SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 150290326 150290326 A G SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known missense c.455 p.D152G 0.007 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 138 0 0 96 25 20.6612 SYNE1 0 genome.wustl.edu 37 6 152746668 152746668 + Splice_Site SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 152746668 152746668 T G SNP SYNE1 ENST00000448038 human ensembl 74_37 -1 known splice_site c.5138-2 e38-2 0.607 - - - no_errors SYNE1 HGNC ENSG00000131018 136 1 0.729927 86 33 27.7311 C6orf118 0 genome.wustl.edu 37 6 165715428 165715428 + Missense_Mutation SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 165715428 165715428 A G SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.383 p.L128P 0.005 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 231 0 0 142 42 22.8261 RBM24 0 genome.wustl.edu 37 6 17292294 17292294 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 17292294 17292294 G A SNP RBM24 ENST00000379052 human ensembl 74_37 +1 known missense c.655 p.A219T 0.933 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM24 HGNC ENSG00000112183 106 0 0 70 21 23.0769 HCRTR2 0 genome.wustl.edu 37 6 55039587 55039587 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 55039587 55039587 G A SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.202 p.A68T 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 156 0 0 99 21 17.5 DSP 0 genome.wustl.edu 37 6 7585299 7585299 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 7585299 7585299 T G SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.7804 p.L2602V 0.431 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 179 0 0 125 35 21.875 TPBG 0 genome.wustl.edu 37 6 83074910 83074910 + Missense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 6 83074910 83074910 G T SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.232 p.V78F 0.962 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 45 0 0 21 6 22.2222 CPED1 0 genome.wustl.edu 37 7 120907303 120907303 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 120907303 120907303 A C SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.2668 p.T890P 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 24 0 0 16 8 33.3333 ASB15 0 genome.wustl.edu 37 7 123264689 123264689 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 123264689 123264689 C A SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.518 p.P173H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_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 ASB15 HGNC ENSG00000146809 157 0 0 136 34 20 ATG9B 0 genome.wustl.edu 37 7 150718411 150718411 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 150718411 150718411 C T SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.827 p.R276H 0.056 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 64 0 0 24 14 36.8421 ZNF713 0 genome.wustl.edu 37 7 56007364 56007364 + Missense_Mutation SNP C C G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 56007364 56007364 C G SNP ZNF713 ENST00000429591 human ensembl 74_37 +1 known missense c.958 p.L320V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF713 HGNC ENSG00000178665 206 0 0 264 29 9.89761 SUMF2 0 genome.wustl.edu 37 7 56132002 56132002 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 56132002 56132002 C T SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known silent c.55 p.L19 0.000 NULL pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 8 0 0 4 8 66.6667 ZNF273 0 genome.wustl.edu 37 7 64378004 64378004 + Nonsense_Mutation SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 64378004 64378004 G T SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known nonsense c.148 p.E50* 0.860 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 281 2 0.706714 277 44 13.7072 SRRM3 0 genome.wustl.edu 37 7 75889227 75889227 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 75889227 75889227 G A SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known silent c.339 p.V113 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 76 0 0 72 15 17.2414 PCLO 0 genome.wustl.edu 37 7 82585678 82585678 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 82585678 82585678 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4591 p.T1531P 0.113 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 116 0 0 72 20 21.7391 PCLO 0 genome.wustl.edu 37 7 82595388 82595388 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 82595388 82595388 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.3716 p.K1239T 0.008 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 523 1 0.19084 330 107 24.4851 SEMA3A 0 genome.wustl.edu 37 7 83591046 83591046 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 83591046 83591046 C T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1957 p.E653K 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 161 0 0 106 31 22.6277 SHFM1 0 genome.wustl.edu 37 7 96251928 96251928 + Nonstop_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 7 96251928 96251928 C A SNP SHFM1 ENST00000417009 human ensembl 74_37 -1 putative nonstop c.198 p.*66Y 0.000 NULL pfam_DSS1_SEM1 - no_errors SHFM1 HGNC ENSG00000127922 44 0 0 20 10 33.3333 RIMS2 0 genome.wustl.edu 37 8 105263313 105263313 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 105263313 105263313 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3753 p.K1251N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 57 0 0 57 16 21.9178 CSMD3 0 genome.wustl.edu 37 8 113256673 113256673 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 113256673 113256673 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10352 p.R3451I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 181 0 0 106 54 33.75 CSMD3 0 genome.wustl.edu 37 8 113256738 113256738 + Silent SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 113256738 113256738 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.10287 p.S3429 0.066 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 196 0 0 137 29 17.4699 TRPS1 0 genome.wustl.edu 37 8 116631435 116631435 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 116631435 116631435 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.890 p.R297H 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 113 1 0.877193 66 39 37.1429 TAF2 0 genome.wustl.edu 37 8 120814048 120814048 + Missense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 120814048 120814048 G A SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.778 p.P260S 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 126 0 0 122 50 29.0698 DLC1 0 genome.wustl.edu 37 8 13356670 13356670 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 13356670 13356670 T G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.911 p.N304T 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 245 0 0 170 46 21.2963 BAI1 0 genome.wustl.edu 37 8 143562905 143562905 + Nonsense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 143562905 143562905 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known nonsense c.1963 p.R655* 0.998 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 18 0 0 10 6 37.5 SPATC1 0 genome.wustl.edu 37 8 145095527 145095527 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 145095527 145095527 G A SNP SPATC1 ENST00000377470 human ensembl 74_37 +1 known silent c.825 p.A275 0.000 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 179 0 0 94 102 52.0408 ARHGAP39 0 genome.wustl.edu 37 8 145806488 145806488 + Missense_Mutation SNP G G C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 145806488 145806488 G C SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known missense c.254 p.A85G 0.984 superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 15 0 0 11 5 31.25 RBPMS 0 genome.wustl.edu 37 8 30407071 30407071 + Missense_Mutation SNP G G C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 30407071 30407071 G C SNP RBPMS ENST00000287771 human ensembl 74_37 +1 known missense c.583 p.D195H 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 155 1 0.641026 82 57 41.0072 WHSC1L1 0 genome.wustl.edu 37 8 38139039 38139039 + Silent SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 38139039 38139039 G T SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known silent c.3564 p.I1188 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 29 0 0 32 13 28.8889 RP1 0 genome.wustl.edu 37 8 55540434 55540434 + Missense_Mutation SNP A A T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 55540434 55540434 A T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3992 p.E1331V 0.002 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 211 0 0 216 53 19.7026 TRPA1 0 genome.wustl.edu 37 8 72971670 72971670 + Silent SNP A A T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 72971670 72971670 A T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.948 p.A316 0.601 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 40 0 0 20 6 23.0769 NECAB1 0 genome.wustl.edu 37 8 91963378 91963378 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 91963378 91963378 A C SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known missense c.976 p.S326R 1.000 superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 97 0 0 65 13 16.6667 OR13C4 0 genome.wustl.edu 37 9 107289029 107289029 + Silent SNP G G T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 107289029 107289029 G T SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known silent c.462 p.I154 0.354 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 275 0 0 169 38 18.3575 PALM2-AKAP2 0 genome.wustl.edu 37 9 112918660 112918660 + Silent SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 112918660 112918660 T G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known silent c.3057 p.P1019 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 143 0 0 101 6 5.60748 SVEP1 0 genome.wustl.edu 37 9 113220820 113220820 + Silent SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 113220820 113220820 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.3507 p.A1169 0.957 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 24 0 0 28 2 6.66667 ALAD 0 genome.wustl.edu 37 9 116151291 116151291 + Silent SNP G G C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 116151291 116151291 G C SNP ALAD ENST00000409155 human ensembl 74_37 -1 known silent c.897 p.A299 0.024 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 104 0 0 82 25 23.3645 TLR4 0 genome.wustl.edu 37 9 120475916 120475916 + Missense_Mutation SNP T T C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 120475916 120475916 T C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1510 p.S504P 0.952 pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 157 0 0 126 30 19.2308 SPTAN1 0 genome.wustl.edu 37 9 131367582 131367582 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 131367582 131367582 C T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.3872 p.S1291F 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 119 0 0 153 14 8.38323 CRAT 0 genome.wustl.edu 37 9 131857713 131857713 + Missense_Mutation SNP C C T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 131857713 131857713 C T SNP CRAT ENST00000318080 human ensembl 74_37 -1 known missense c.1844 p.R615H 0.971 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 88 0 0 127 11 7.97101 COL5A1 0 genome.wustl.edu 37 9 137666757 137666757 + Missense_Mutation SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 137666757 137666757 A G SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.2384 p.K795R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 36 0 0 46 6 11.5385 BNC2 0 genome.wustl.edu 37 9 16436586 16436586 + Nonsense_Mutation SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 16436586 16436586 G A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known nonsense c.1606 p.R536* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 193 0 0 22 56 71.7949 CNTNAP3 0 genome.wustl.edu 37 9 39178353 39178353 + Silent SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 39178353 39178353 A C SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known silent c.543 p.S181 0.936 superfamily_ConA-like_lec_gl_sf 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 153 0 0 185 57 23.5537 PRKACG 0 genome.wustl.edu 37 9 71628451 71628451 + Silent SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 71628451 71628451 G A SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known silent c.558 p.F186 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 42 0 0 14 13 48.1481 IPPK 0 genome.wustl.edu 37 9 95381775 95381775 + Missense_Mutation SNP C C A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 95381775 95381775 C A SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.1243 p.D415Y 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 16 0 0 11 2 15.3846 ANKRD19P 0 genome.wustl.edu 37 9 95599704 95599704 + RNA SNP G G A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 95599704 95599704 G A SNP ANKRD19P ENST00000464387 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors ANKRD19P HGNC ENSG00000187984 23 0 0 26 9 25.7143 SERPINA7 0 genome.wustl.edu 37 X 105281009 105281009 + Missense_Mutation SNP A A C TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da X 105281009 105281009 A C SNP SERPINA7 ENST00000327674 human ensembl 74_37 -1 known missense c.41 p.L14R 0.584 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA7 HGNC ENSG00000123561 202 0 0 70 40 36.3636 RGAG1 0 genome.wustl.edu 37 X 109694940 109694940 + Silent SNP A A G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da X 109694940 109694940 A G SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.1095 p.P365 0.004 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 886 0 0 230 124 35.0282 MIR890 0 genome.wustl.edu 37 X 145075866 145075866 + RNA SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da X 145075866 145075866 T G SNP MIR890 ENST00000401256 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR890 HGNC ENSG00000216075 148 0 0 22 49 69.0141 GPR50 0 genome.wustl.edu 37 X 150348896 150348896 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da X 150348896 150348896 T G SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.841 p.F281V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt 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 243 0 0 67 45 40.1786 MXRA5 0 genome.wustl.edu 37 X 3239959 3239959 + Missense_Mutation SNP T T G TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da X 3239959 3239959 T G SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3767 p.K1256T 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 329 0 0 32 140 81.3953 DACH2 0 genome.wustl.edu 37 X 85950029 85950029 + Missense_Mutation SNP A A T TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da X 85950029 85950029 A T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.778 p.S260C 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 104 0 0 25 16 39.0244 YY1AP1 0 genome.wustl.edu 37 1 155650226 155650230 + Frame_Shift_Del DEL ATCAG ATCAG - TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 ATCAG ATCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 155650226 155650230 ATCAG - DEL YY1AP1 ENST00000368339 human ensembl 74_37 -1 known frame_shift_del c.416_412 p.L138fs 1.000:1.000:1.000:1.000:0.996 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 148 0 0 95 15 13.6364 RASAL2 0 genome.wustl.edu 37 1 178269183 178269185 + In_Frame_Del DEL GAG GAG - TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 178269183 178269185 GAG - DEL RASAL2 ENST00000367649 human ensembl 74_37 +1 known in_frame_del c.387_389 p.R131in_frame_del 0.985:0.985:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 104 0 0 101 12 10.6195 CAPN2 0 genome.wustl.edu 37 1 223934726 223934727 + Frame_Shift_Del DEL AG AG - TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 1 223934726 223934727 AG - DEL CAPN2 ENST00000295006 human ensembl 74_37 +1 known frame_shift_del c.588_589 p.G198fs 0.012:1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 166 0 0 155 39 20.1031 ACSL5 0 genome.wustl.edu 37 10 114171218 114171218 + Frame_Shift_Del DEL C C - TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 10 114171218 114171218 C - DEL ACSL5 ENST00000356116 human ensembl 74_37 +1 known frame_shift_del c.969 p.G326fs 0.978 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 122 0 0 37 20 35.0877 TP53 0 genome.wustl.edu 37 17 7578475 7578475 + Frame_Shift_Del DEL G G - TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 17 7578475 7578475 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.455 p.P152fs 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 121 0 0 40 60 60 FSIP2 0 genome.wustl.edu 37 2 186678572 186678576 + Frame_Shift_Del DEL AAAAA AAAAA - TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 AAAAA AAAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 2 186678572 186678576 AAAAA - DEL FSIP2 ENST00000343098 human ensembl 74_37 +1 known frame_shift_del c.20395_20399 p.K6799fs 0.997:0.973:0.926:0.899:0.305 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 126 0 0 61 41 40.1961 EXT1 0 genome.wustl.edu 37 8 119122980 119122981 + Frame_Shift_Ins INS - - GACT TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 8 119122980 119122981 - GACT INS EXT1 ENST00000378204 human ensembl 74_37 -1 known frame_shift_ins c.306_305 p.C103fs 1.000:1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 150 0 0 136 17 11.1111 SURF6 0 genome.wustl.edu 37 9 136199116 136199117 + Frame_Shift_Ins INS - - A TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da 9 136199116 136199117 - A INS SURF6 ENST00000372022 human ensembl 74_37 -1 known frame_shift_ins c.675_674 p.K225fs 0.997:1.000 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 148 0 0 188 12 6 UBE2NL 0 genome.wustl.edu 37 X 142967261 142967261 + Frame_Shift_Del DEL T T - TCGA-CG-4466-01A-01D-1158-08 TCGA-CG-4466-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f816b5c3-5ada-4781-93c3-b75b2e6850f7 fb3fa35c-47fb-401e-b532-37d4b027f5da X 142967261 142967261 T - DEL UBE2NL ENST00000370494 human ensembl 74_37 +1 known frame_shift_del c.59 p.P21fs 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 264 0 0 34 85 71.4286