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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val SIPA1 0 genome.wustl.edu 37 11 65413771 65413771 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 11 65413771 65413771 C T SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.1343 p.T448I 0.810 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 tier1 - - 42 0 0.00 29 5 14.71 51 0 0.00 38 8 17.39 SLCO4A1 0 genome.wustl.edu 37 20 61290029 61290029 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 20 61290029 61290029 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.797 p.A266V 0.995 pfam_OA_transporter,pfam_MFS,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 SLCO4A1 HGNC ENSG00000101187 tier1 - - 30 0 0.00 62 11 15.07 10 0 0.00 15 4 21.05 RYR2 0 genome.wustl.edu 37 1 237755055 237755055 + Missense_Mutation SNP A A C TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 1 237755055 237755055 A C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4171 p.T1391P 1.000 pfscan_B30.2/SPRY 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 54 0 0.00 25 8 24.24 64 0 0.00 59 10 14.49 TTL 0 genome.wustl.edu 37 2 113286955 113286955 + R SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 2 113286955 113286955 G A SNP TTL ENST00000460450 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTL HGNC ENSG00000114999 tier1 - - 33 0 0.00 34 17 33.33 107 0 0.00 48 36 42.86 CEACAM18 0 genome.wustl.edu 37 19 51986521 51986521 + Nonsense_Mutation SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 19 51986521 51986521 C G SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known nonsense c.1107 p.Y369* 0.022 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 49 0 0.00 61 17 21.79 46 0 0.00 45 22 32.84 TRPM2 0 genome.wustl.edu 37 21 45858991 45858991 + Silent SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 21 45858991 45858991 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.4209 p.K1403 0.903 superfamily_NUDIX_hydrolase_dom-like pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 tier1 - - 17 0 0.00 3 6 60.00 28 0 0.00 13 11 45.83 FRMPD4 0 genome.wustl.edu 37 X 12736058 12736058 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb X 12736058 12736058 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.3113 p.A1038V 0.003 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 tier1 - - 15 0 0.00 5 13 72.22 65 0 0.00 27 57 67.86 NPAP1 0 genome.wustl.edu 37 15 24923532 24923532 + Missense_Mutation SNP T T A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 15 24923532 24923532 T A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2518 p.F840I 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 42 0 0.00 37 10 21.28 101 0 0.00 61 24 28.24 RYR1 0 genome.wustl.edu 37 19 38959746 38959746 + Silent SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 19 38959746 38959746 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.3522 p.S1174 0.032 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 11 0 0.00 26 8 23.53 57 0 0.00 140 16 10.26 PYCRL 0 genome.wustl.edu 37 8 144688241 144688241 + Silent SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 8 144688241 144688241 C T SNP PYCRL ENST00000220966 human ensembl 74_37 -1 known silent c.669 p.Q223 1.000 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 tier1 - - 37 0 0.00 27 4 12.50 18 0 0.00 15 3 16.67 SMARCAL1 0 genome.wustl.edu 37 2 217332750 217332750 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 2 217332750 217332750 C T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.2225 p.T742M 0.016 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 tier1 rs2271336 GMAF=0.0005 46 0 0.00 33 7 17.50 120 0 0.00 48 21 30.43 CDH12 0 genome.wustl.edu 37 5 21854900 21854900 + Splice_Site SNP C C A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 5 21854900 21854900 C A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known splice_site c.527-1 e3-1 1.000 - - - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 76 0 0.00 56 23 29.11 128 0 0.00 76 33 30.28 STRC 0 genome.wustl.edu 37 15 43893109 43893109 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 15 43893109 43893109 C T SNP STRC ENST00000450892 human ensembl 74_37 -1 known missense c.4805 p.R1602Q 0.985 NULL NULL - no_errors STRC HGNC ENSG00000242866 tier1 - - 23 0 0.00 31 7 18.42 37 0 0.00 37 14 27.45 ID3 0 genome.wustl.edu 37 1 23885512 23885512 + Splice_Site SNP T T C TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 1 23885512 23885512 T C SNP ID3 ENST00000374561 human ensembl 74_37 -1 known splice_site c.301-2 e2-2 0.997 - - - no_errors ID3 HGNC ENSG00000117318 tier1 - - 53 0 0.00 37 28 43.08 50 0 0.00 71 25 25.77 NOTUM 0 genome.wustl.edu 37 17 79916829 79916829 + Nonsense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 17 79916829 79916829 C T SNP NOTUM ENST00000409678 human ensembl 74_37 -1 known nonsense c.515 p.W172* 1.000 pfam_NOTUM pfam_NOTUM - no_errors NOTUM HGNC ENSG00000185269 tier1 - - 46 0 0.00 52 11 17.46 60 0 0.00 76 29 27.36 MUC5B 0 genome.wustl.edu 37 11 1270805 1270805 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 11 1270805 1270805 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.12704 p.P4235L 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 24 0 0.00 50 9 15.25 37 0 0.00 24 10 29.41 UBE2O 0 genome.wustl.edu 37 17 74387533 74387533 + Missense_Mutation SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 17 74387533 74387533 C G SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.3370 p.E1124Q 0.997 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 tier1 - - 20 0 0.00 14 5 25.00 28 0 0.00 22 10 31.25 TMEM135 0 genome.wustl.edu 37 11 87024468 87024468 + Missense_Mutation SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 11 87024468 87024468 G A SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known missense c.938 p.G313D 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 tier1 - - 92 0 0.00 44 25 36.23 80 0 0.00 43 14 24.56 UNC79 0 genome.wustl.edu 37 14 93995662 93995662 + Silent SNP T T A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 14 93995662 93995662 T A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.1083 p.L361 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 72 0 0.00 36 20 35.71 108 0 0.00 52 23 30.67 XPO6 0 genome.wustl.edu 37 16 28113177 28113177 + Silent SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 16 28113177 28113177 C G SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known silent c.3036 p.L1012 0.974 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 tier1 - - 51 0 0.00 52 12 18.75 82 1 1.20 57 17 22.97 CDH8 0 genome.wustl.edu 37 16 61687551 61687551 + Silent SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 16 61687551 61687551 G A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.2361 p.G787 0.524 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 35 0 0.00 24 7 22.58 71 0 0.00 50 11 18.03 PPFIA2 0 genome.wustl.edu 37 12 81734962 81734962 + Missense_Mutation SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 12 81734962 81734962 C G SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.2288 p.R763P 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 66 0 0.00 40 23 36.51 127 0 0.00 81 45 35.43 NDUFV1 0 genome.wustl.edu 37 11 67378983 67378983 + Silent SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 11 67378983 67378983 G A SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known silent c.1023 p.A341 0.111 tigrfam_DH-UbQ_OxRdtase_suF pfam_DH_UbQ_OxRdtase_51kDa_su,pfam_DH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_DH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_DH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 tier1 - - 43 0 0.00 23 18 43.90 55 0 0.00 23 12 34.29 RAPH1 0 genome.wustl.edu 37 2 204304534 204304534 + Missense_Mutation SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 2 204304534 204304534 G A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.3535 p.R1179W 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 tier1 rs144033630 - 19 0 0.00 20 4 16.67 103 0 0.00 42 20 32.26 TTC30B 0 genome.wustl.edu 37 2 178417110 178417110 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 2 178417110 178417110 C T SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.382 p.D128N 0.989 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 tier1 - - 22 0 0.00 28 18 39.13 40 0 0.00 15 8 34.78 RSPH4A 0 genome.wustl.edu 37 6 116949368 116949368 + Missense_Mutation SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 6 116949368 116949368 C G SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known missense c.1498 p.L500V 0.958 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 tier1 - - 15 0 0.00 17 11 39.29 78 0 0.00 38 26 40.62 RNF150 0 genome.wustl.edu 37 4 141888986 141888986 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 4 141888986 141888986 C T SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known missense c.526 p.G176R 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 tier1 - - 57 0 0.00 59 19 24.36 110 0 0.00 78 27 25.71 TP53 0 genome.wustl.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 17 7577556 7577556 C G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.725 p.C242S 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 52 0 0.00 5 37 88.10 67 0 0.00 15 35 70.00 KIF17 0 genome.wustl.edu 37 1 21042109 21042109 + Silent SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 1 21042109 21042109 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.255 p.G85 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 tier1 - - 42 0 0.00 37 10 21.28 23 0 0.00 16 2 11.11 TLR3 0 genome.wustl.edu 37 4 187004218 187004218 + Missense_Mutation SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 4 187004218 187004218 G A SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.1378 p.E460K 0.990 NULL 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 TLR3 HGNC ENSG00000164342 tier1 rs144550375 - 37 0 0.00 4 21 84.00 97 0 0.00 24 50 67.57 PCDH1 0 genome.wustl.edu 37 5 141248186 141248186 + Missense_Mutation SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 5 141248186 141248186 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.851 p.S284F 0.228 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 - - 28 0 0.00 26 40 60.61 24 0 0.00 24 43 64.18 DCAF4L2 0 genome.wustl.edu 37 8 88885986 88885986 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 8 88885986 88885986 C T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.214 p.D72N 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 tier1 - - 56 0 0.00 39 18 31.58 85 0 0.00 28 31 52.54 TRDN 0 genome.wustl.edu 37 6 123892185 123892185 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 6 123892185 123892185 C T SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.115 p.D39N 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 34 0 0.00 43 45 51.14 96 0 0.00 70 69 49.29 RABEP1 0 genome.wustl.edu 37 17 5241402 5241413 + In_Frame_Del DEL AAGACAAAATTA AAGACAAAATTA - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 AAGACAAAATTA AAGACAAAATTA AAGACAAAATTA - AAGACAAAATTA AAGACAAAATTA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 17 5241402 5241413 AAGACAAAATTA - DEL RABEP1 ENST00000262477 human ensembl 74_37 +1 known in_frame_del c.617_628 p.DKIK207in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.974:0.997:1.000:0.998:1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 tier1 133 0 0.00 69 10 12.66 133 0 0.00 69 10 12.66 CREBBP 0 genome.wustl.edu 37 16 3819196 3819196 + Frame_Shift_Del DEL G G - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 16 3819196 3819196 G - DEL CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_del c.3039 p.E1016fs 0.279 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 18 0 0.00 42 8 16.00 53 0 0.00 69 25 26.60 RAB38 0 genome.wustl.edu 37 11 87882881 87882881 + Frame_Shift_Del DEL C C - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 11 87882881 87882881 C - DEL RAB38 ENST00000243662 human ensembl 74_37 -1 known frame_shift_del c.445 p.E149fs 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB38 HGNC ENSG00000123892 tier1 51 0 0.00 46 10 17.86 98 0 0.00 62 11 15.07 TET2 0 genome.wustl.edu 37 4 106196943 106196945 + In_Frame_Del DEL CTT CTT - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 CTT CTT CTT - CTT CTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 4 106196943 106196945 CTT - DEL TET2 ENST00000380013 human ensembl 74_37 +1 known in_frame_del c.5276_5278 p.S1760in_frame_del 0.019:0.003:0.005 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 13 0 0.00 11 2 15.38 109 0 0.00 69 13 15.85 RNF25 0 genome.wustl.edu 37 2 219529965 219529965 + Frame_Shift_Del DEL T T - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 2 219529965 219529965 T - DEL RNF25 ENST00000295704 human ensembl 74_37 -1 known frame_shift_del c.579 p.V194fs 0.233 smart_Znf_RING,pfscan_Znf_RING pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 tier1 46 0 0.00 22 3 12.00 79 0 0.00 32 10 23.81 ITGA10 0 genome.wustl.edu 37 1 145532554 145532554 + Missense_Mutation SNP A A G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 1 145532554 145532554 A G SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.1007 p.N336S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 24 0 0.00 5 30 85.71 32 0 0.00 9 76 88.37 SERBP1 0 genome.wustl.edu 37 1 67891960 67891960 + Nonsense_Mutation SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 1 67891960 67891960 G A SNP SERBP1 ENST00000370995 human ensembl 74_37 -1 known nonsense c.322 p.R108* 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 tier1 - - 39 0 0.00 5 27 84.38 59 1 1.67 8 30 78.95 TJP2 0 genome.wustl.edu 37 9 71836181 71836181 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 9 71836181 71836181 C T SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.814 p.R272C 0.404 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 tier1 - - 8 0 0.00 18 5 21.74 13 0 0.00 8 8 50.00 TPTEP1 0 genome.wustl.edu 37 22 17178996 17178996 + R SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 22 17178996 17178996 C T SNP TPTEP1 ENST00000558085 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TPTEP1 HGNC ENSG00000100181 tier1 - - 68 0 0.00 44 48 51.06 13 0 0.00 5 7 58.33 GPR149 0 genome.wustl.edu 37 3 154055871 154055871 + Missense_Mutation SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 3 154055871 154055871 C T SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.1813 p.D605N 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 51 0 0.00 44 6 12.00 93 0 0.00 64 6 8.57 ENSG00000226145 0 genome.wustl.edu 37 17 16722293 16722293 + R SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 17 16722293 16722293 C G SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 105 0 0.00 118 14 10.61 54 0 0.00 87 7 7.45 ENSG00000258364 0 genome.wustl.edu 37 14 19412607 19412607 + R SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 14 19412607 19412607 C T SNP ENSG00000258364 ENST00000550928 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors RP11-536C10.16 Clone_based_vega_gene ENSG00000258364 tier1 - - 45 0 0.00 58 21 26.58 48 0 0.00 73 7 8.75 SUPT16H 0 genome.wustl.edu 37 14 21830470 21830470 + Missense_Mutation SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 14 21830470 21830470 G A SNP SUPT16H ENST00000216297 human ensembl 74_37 -1 known missense c.1679 p.S560F 1.000 pfam_FACT_Spt16p pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 tier1 - - 40 0 0.00 64 8 11.11 46 0 0.00 78 4 4.88 ATF4P4 0 genome.wustl.edu 37 11 113660099 113660099 + R SNP G G A TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 11 113660099 113660099 G A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATF4P4 HGNC ENSG00000256167 tier1 - - 30 0 0.00 23 7 23.33 4 0 0.00 2 0 0.00 ENSG00000216020 0 genome.wustl.edu 37 3 191693768 191693773 + R DEL GTGTGC GTGTGC - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 GTGTGC GTGTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 3 191693768 191693773 GTGTGC - DEL ENSG00000216020 ENST00000401201 human ensembl 74_37 +1 novel rna NULL NULL 0.008:0.009:0.008:0.008:0.006:0.005 - - - no_errors AC026320.1 Clone_based_ensembl_gene ENSG00000216020 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LHCGR 0 genome.wustl.edu 37 2 48982775 48982777 + In_Frame_Del DEL CTT CTT - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 2 48982775 48982777 CTT - DEL LHCGR ENST00000294954 human ensembl 74_37 -1 known in_frame_del c.36_34 p.K12in_frame_del 0.000:0.000:0.000 prints_TSH_rcpt pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 11 0 0.00 12 6 33.33 2 0 0.00 3 0 0.00 MAGEL2 0 genome.wustl.edu 37 15 23890952 23890952 + Silent SNP C C T TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 15 23890952 23890952 C T SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known silent c.129 p.E43 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 22 0 0.00 5 15 75.00 0 0 0.00 0 1 100.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147845 + R DEL GTGTGTGTGT GTGTGTGTGT - TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 GTGTGTGTGT GTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 2 50147836 50147845 GTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ZNF257 0 genome.wustl.edu 37 19 22271217 22271217 + Missense_Mutation SNP C C G TCGA-QC-A6FX-01A-11D-A32I-09 TCGA-QC-A6FX-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fcd49624-3dbe-45eb-8820-7e13da9cdcaa 2cdf6c47-3638-4511-8a87-1247ddcbaccb 19 22271217 22271217 C G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.665 p.T222S 0.007 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 ZNF257 HGNC ENSG00000197134 tier1 - - 35 0 0.00 46 16 25.81 4 0 0.00 0 1 100.00