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 TTBK2 0 genome.wustl.edu 37 15 43045133 43045133 + Missense_Mutation SNP C C G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 15 43045133 43045133 C G SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.2311 p.E771Q 0.997 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 TTBK2 HGNC ENSG00000128881 tier1 - - 62 0 0.00 42 31 42.47 109 0 0.00 49 59 54.63 DH17 0 genome.wustl.edu 37 17 76446859 76446859 + Missense_Mutation SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 17 76446859 76446859 G A SNP DH17 ENST00000389840 human ensembl 74_37 -1 known missense c.10762 p.R3588C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DH17 HGNC ENSG00000187775 tier1 - - 62 0 0.00 27 24 47.06 72 0 0.00 43 36 45.57 TTBK2 0 genome.wustl.edu 37 15 43044957 43044957 + Silent SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 15 43044957 43044957 C T SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known silent c.2487 p.Q829 1.000 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 TTBK2 HGNC ENSG00000128881 tier1 - - 46 0 0.00 25 29 53.70 115 0 0.00 57 35 38.04 WDFY4 0 genome.wustl.edu 37 10 49951200 49951200 + Missense_Mutation SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 49951200 49951200 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.2066 p.S689F 0.991 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 63 0 0.00 88 14 13.73 72 0 0.00 64 24 27.27 CUX1 0 genome.wustl.edu 37 7 101801856 101801856 + Missense_Mutation SNP A A T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 7 101801856 101801856 A T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.724 p.M242L 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 57 0 0.00 24 24 50.00 68 0 0.00 56 31 35.63 ASTN1 0 genome.wustl.edu 37 1 177001821 177001821 + Silent SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 1 177001821 177001821 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.636 p.H212 0.099 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 52 0 0.00 45 22 32.84 24 0 0.00 21 8 27.59 HNF1B 0 genome.wustl.edu 37 17 36091772 36091772 + Missense_Mutation SNP C C G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 17 36091772 36091772 C G SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known missense c.859 p.G287R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 tier1 - - 34 0 0.00 15 20 57.14 81 0 0.00 23 30 56.60 ADAM28 0 genome.wustl.edu 37 8 24168921 24168921 + Silent SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 8 24168921 24168921 C T SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known silent c.354 p.D118 0.730 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 rs144018592 - 64 0 0.00 61 22 26.51 98 0 0.00 56 14 20.00 TSPAN6 0 genome.wustl.edu 37 X 99890554 99890554 + Splice_Site SNP C C A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a X 99890554 99890554 C A SNP TSPAN6 ENST00000373020 human ensembl 74_37 -1 known splice_site c.276+1 e2+1 1.000 - - - no_errors TSPAN6 HGNC ENSG00000000003 tier1 - - 41 0 0.00 18 4 18.18 112 1 0.88 34 5 12.82 WDFY4 0 genome.wustl.edu 37 10 49951225 49951225 + Silent SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 49951225 49951225 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known silent c.2091 p.V697 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 53 0 0.00 87 15 14.71 71 0 0.00 70 28 28.57 WDFY4 0 genome.wustl.edu 37 10 49951426 49951426 + Silent SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 49951426 49951426 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known silent c.2292 p.L764 0.014 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 42 0 0.00 87 20 18.69 94 0 0.00 93 23 19.66 WDFY4 0 genome.wustl.edu 37 10 49951403 49951403 + Missense_Mutation SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 49951403 49951403 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.2269 p.P757S 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 42 0 0.00 74 16 17.78 85 0 0.00 85 19 18.27 TCTN1 0 genome.wustl.edu 37 12 111065921 111065921 + Silent SNP A A G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 12 111065921 111065921 A G SNP TCTN1 ENST00000397656 human ensembl 74_37 +1 known silent c.537 p.P179 0.000 NULL pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 tier1 - - 53 0 0.00 19 25 56.82 53 0 0.00 34 17 33.33 LOC100507600 0 genome.wustl.edu 37 2 136579728 136579728 + R SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 2 136579728 136579728 G A SNP LOC100507600 ENST00000437007 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC011893.3 Clone_based_vega_gene ENSG00000226806 tier1 - - 28 0 0.00 19 7 26.92 101 1 0.98 76 22 22.45 DLGAP4 0 genome.wustl.edu 37 20 35075162 35075162 + Silent SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 20 35075162 35075162 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.1470 p.A490 0.001 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 tier1 - - 86 0 0.00 28 23 45.10 21 0 0.00 11 3 21.43 TRPM3 0 genome.wustl.edu 37 9 73391377 73391377 + Missense_Mutation SNP C C G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 9 73391377 73391377 C G SNP TRPM3 ENST00000396283 human ensembl 74_37 -1 putative missense c.791 p.R264T 0.004 NULL NULL - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 57 0 0.00 25 23 47.92 49 0 0.00 20 25 55.56 KIAA1429 0 genome.wustl.edu 37 8 95547168 95547168 + Missense_Mutation SNP A A T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 8 95547168 95547168 A T SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.383 p.V128E 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 tier1 - - 32 0 0.00 30 15 33.33 76 0 0.00 41 34 45.33 FBXO38 0 genome.wustl.edu 37 5 147806999 147806999 + Missense_Mutation SNP C C G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 5 147806999 147806999 C G SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.2142 p.N714K 0.980 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 tier1 - - 10 0 0.00 10 6 37.50 51 1 1.92 23 20 46.51 HMGCLL1 0 genome.wustl.edu 37 6 55406543 55406543 + Missense_Mutation SNP G G C TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 6 55406543 55406543 G C SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.371 p.S124C 1.000 pfam_PYR_CT,pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 tier1 - - 69 0 0.00 41 49 54.44 74 0 0.00 67 49 42.24 KNTC1 0 genome.wustl.edu 37 12 123070191 123070191 + Silent SNP T T C TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 12 123070191 123070191 T C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.3543 p.F1181 0.989 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 92 0 0.00 56 35 38.46 83 0 0.00 31 33 51.56 KLC4 0 genome.wustl.edu 37 6 43041689 43041689 + Missense_Mutation SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 6 43041689 43041689 G A SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.1849 p.A617T 0.909 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 tier1 - - 127 0 0.00 76 41 34.75 109 0 0.00 60 22 26.83 GPRIN3 0 genome.wustl.edu 37 4 90168982 90168982 + Missense_Mutation SNP G G C TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 4 90168982 90168982 G C SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.2280 p.F760L 0.015 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 tier1 - - 46 0 0.00 26 28 51.85 60 0 0.00 29 13 30.95 HSD17B12 0 genome.wustl.edu 37 11 43819959 43819959 + Missense_Mutation SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 11 43819959 43819959 C T SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known missense c.373 p.L125F 0.999 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 tier1 - - 47 0 0.00 18 13 41.94 66 0 0.00 53 29 35.37 WDFY4 0 genome.wustl.edu 37 10 49951504 49951504 + Silent SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 49951504 49951504 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known silent c.2370 p.T790 0.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 39 0 0.00 60 18 23.08 93 0 0.00 118 30 20.27 GLI1 0 genome.wustl.edu 37 12 57864284 57864284 + Nonsense_Mutation SNP C C A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 12 57864284 57864284 C A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known nonsense c.1761 p.Y587* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 60 0 0.00 34 16 32.00 50 0 0.00 13 14 51.85 OR10S1 0 genome.wustl.edu 37 11 123847411 123847411 + Missense_Mutation SNP G G T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 11 123847411 123847411 G T SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.988 p.P330T 0.014 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 tier1 - - 16 0 0.00 17 7 29.17 41 0 0.00 39 27 40.91 SLC24A4 0 genome.wustl.edu 37 14 92923649 92923650 + R INS - - ACACCAGG TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 - - - ACACCAGG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 14 92923649 92923650 - ACACCAGG INS SLC24A4 ENST00000556739 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SLC24A4 HGNC ENSG00000140090 tier1 44 0 0.00 17 2 10.53 44 0 0.00 17 2 10.53 ACTA2 0 genome.wustl.edu 37 10 90701022 90701025 + Frame_Shift_Del DEL TCTT TCTT - TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 TCTT TCTT TCTT - TCTT TCTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 90701022 90701025 TCTT - DEL ACTA2 ENST00000224784 human ensembl 74_37 -1 known frame_shift_del c.580_577 p.K193fs 1.000:1.000:1.000:1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 tier1 75 0 0.00 10 26 72.22 36 0 0.00 6 18 75.00 ACTA2 0 genome.wustl.edu 37 10 90701026 90701026 + Missense_Mutation SNP C C A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 90701026 90701026 C A SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.576 p.M192I 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 tier1 - - 73 0 0.00 9 30 76.92 36 0 0.00 6 18 75.00 ADAMTS18 0 genome.wustl.edu 37 16 77325184 77325184 + Missense_Mutation SNP C C A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 16 77325184 77325184 C A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3381 p.W1127C 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 72 0 0.00 11 21 65.62 86 0 0.00 6 36 85.71 ANGPTL3 0 genome.wustl.edu 37 1 63070097 63070097 + R SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 1 63070097 63070097 C T SNP ANGPTL3 ENST00000493994 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ANGPTL3 HGNC ENSG00000132855 tier1 - - 14 0 0.00 5 4 44.44 59 0 0.00 3 44 93.62 ELFN2 0 genome.wustl.edu 37 22 37770666 37770666 + Silent SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 22 37770666 37770666 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known silent c.909 p.H303 0.337 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 tier1 rs201226596 - 94 0 0.00 14 45 76.27 31 0 0.00 3 13 81.25 EMP2 0 genome.wustl.edu 37 16 10625606 10625613 + R DEL ATGAATGA ATGAATGA - TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 ATGAATGA ATGAATGA ATGAATGA - ATGAATGA ATGAATGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 16 10625606 10625613 ATGAATGA - DEL EMP2 ENST00000566033 human ensembl 74_37 -1 putative rna NULL NULL 0.092:0.092:0.091:0.090:0.088:0.085:0.082:0.078 - - - no_errors EMP2 HGNC ENSG00000213853 tier1 6 0 0.00 6 2 25.00 6 0 0.00 6 2 25.00 GATC 0 genome.wustl.edu 37 12 120884319 120884319 + Silent SNP C C G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 12 120884319 120884319 C G SNP GATC ENST00000551765 human ensembl 74_37 +1 known silent c.36 p.A12 0.000 NULL pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC ENSG00000257218 tier1 - - 110 0 0.00 62 20 24.39 18 0 0.00 4 4 50.00 GATC 0 genome.wustl.edu 37 12 120884322 120884331 + Frame_Shift_Del DEL TCTGGGCGGG TCTGGGCGGG - TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 TCTGGGCGGG TCTGGGCGGG TCTGGGCGGG - TCTGGGCGGG TCTGGGCGGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 12 120884322 120884331 TCTGGGCGGG - DEL GATC ENST00000551765 human ensembl 74_37 +1 known frame_shift_del c.39_48 p.L14fs 0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000 NULL pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC ENSG00000257218 tier1 15 0 0.00 4 4 50.00 15 0 0.00 4 4 50.00 MRGPRX3 0 genome.wustl.edu 37 11 18159001 18159001 + Silent SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 11 18159001 18159001 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known silent c.252 p.P84 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 rs148328055 - 57 0 0.00 12 25 67.57 45 0 0.00 6 16 72.73 MUC2 0 genome.wustl.edu 37 11 1098687 1098687 + Missense_Mutation SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 11 1098687 1098687 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.7057 p.D2353N 0.118 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 tier1 - - 112 0 0.00 10 54 84.38 15 0 0.00 3 3 50.00 SLC17A4 0 genome.wustl.edu 37 6 25771211 25771211 + Missense_Mutation SNP T T A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 6 25771211 25771211 T A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.677 p.I226K 0.004 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 128 0 0.00 6 43 87.76 83 0 0.00 4 26 86.67 TM2D1 0 genome.wustl.edu 37 1 62190776 62190776 + Missense_Mutation SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 1 62190776 62190776 G A SNP TM2D1 ENST00000371180 human ensembl 74_37 -1 known missense c.203 p.P68L 0.004 NULL pfam_TM2 - no_errors TM2D1 HGNC ENSG00000162604 tier1 - - 56 0 0.00 5 24 82.76 18 0 0.00 1 5 83.33 UBAC2 0 genome.wustl.edu 37 13 100038221 100038221 + R SNP C C G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 13 100038221 100038221 C G SNP UBAC2 ENST00000460562 human ensembl 74_37 +1 known rna NULL NULL 0.685 - - - no_errors UBAC2 HGNC ENSG00000134882 tier1 - - 12 0 0.00 3 8 72.73 36 0 0.00 0 24 100.00 WDR11 0 genome.wustl.edu 37 10 122648750 122648751 + R INS - - TTTTGTTTTG TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 - - - TTTTGTTTTG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 122648750 122648751 - TTTTGTTTTG INS WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.006 - - - no_errors WDR11 HGNC ENSG00000120008 tier1 12 0 0.00 8 2 20.00 12 0 0.00 8 2 20.00 ARFGEF1 0 genome.wustl.edu 37 8 68188215 68188215 + Missense_Mutation SNP G G A TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 8 68188215 68188215 G A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.1333 p.P445S 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 58 0 0.00 54 8 12.90 105 0 0.00 97 9 8.49 GATC 0 genome.wustl.edu 37 12 120884315 120884324 + Frame_Shift_Del DEL GGGCCCCTCT GGGCCCCTCT - TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 GGGCCCCTCT GGGCCCCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 12 120884315 120884324 GGGCCCCTCT - DEL GATC ENST00000551765 human ensembl 74_37 +1 known frame_shift_del c.32_41 p.P13fs 0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC ENSG00000257218 tier1 17 0 0.00 8 0 0.00 17 0 0.00 8 0 0.00 MIR3177 0 genome.wustl.edu 37 16 1785034 1785034 + R SNP C C T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 16 1785034 1785034 C T SNP MIR3177 ENST00000578255 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3177 HGNC ENSG00000265820 tier1 - - 24 0 0.00 25 17 40.48 11 0 0.00 5 0 0.00 ENSG00000221732 0 genome.wustl.edu 37 7 140280130 140280130 + R SNP T T C TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 7 140280130 140280130 T C SNP ENSG00000221732 ENST00000408805 human ensembl 74_37 +1 novel rna NULL NULL 0.057 - - - no_errors AC006452.1 Clone_based_ensembl_gene ENSG00000221732 tier1 rs62485838 - 16 0 0.00 15 5 25.00 0 0 0.00 0 0 0.00 FOXA2 0 genome.wustl.edu 37 20 22562842 22562842 + Silent SNP C C G TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 20 22562842 22562842 C G SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known silent c.1038 p.G346 0.997 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 tier1 - - 8 0 0.00 5 4 44.44 0 0 0.00 0 0 0.00 IL21R-AS1 0 genome.wustl.edu 37 16 27459684 27459684 + R SNP G G T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 16 27459684 27459684 G T SNP IL21R-AS1 ENST00000563191 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors IL21R-AS1 HGNC ENSG00000259954 tier1 - - 13 0 0.00 5 8 61.54 0 0 0.00 0 0 0.00 LOR 0 genome.wustl.edu 37 1 153233991 153233992 + In_Frame_Ins INS - - CTCTGGCGGCGG TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 1 153233991 153233992 - CTCTGGCGGCGG INS LOR ENST00000368742 human ensembl 74_37 +1 known in_frame_ins c.566_567 p.193in_frame_insGSGG 0.014:0.200 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 MSH3 0 genome.wustl.edu 37 5 79950712 79950738 + In_Frame_Del DEL GCGGCCGCAGCGGCCGCAGCGCCCCCA GCGGCCGCAGCGGCCGCAGCGCCCCCA - TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 GCGGCCGCAGCGGCCGCAGCGCCCCCA GCGGCCGCAGCGGCCGCAGCGCCCCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 5 79950712 79950738 GCGGCCGCAGCGGCCGCAGCGCCCCCA - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known in_frame_del c.166_192 p.AAAAAAPPA57in_frame_del 0.238:0.205:0.172:0.140:0.107:0.075:0.032:0.035:0.048:0.057:0.087:0.730:0.747:0.894:0.911:0.915:0.941:0.965:0.997:1.000:1.000:1.000:1.000:0.988:0.984:0.963:0.965 NULL pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 0 0 0.00 2 0 0.00 0 0 0.00 2 0 0.00 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GPR125 0 genome.wustl.edu 37 4 22404357 22404357 + Silent SNP G G T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 4 22404357 22404357 G T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.2298 p.T766 0.819 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 - - 51 0 0.00 32 4 11.11 123 0 0.00 124 2 1.59 ENSG00000200294 0 genome.wustl.edu 37 10 73940732 73940733 + R INS - - T TCGA-FX-A48G-01A-11D-A24N-09 TCGA-FX-A48G-11A-12D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb5e1546-cda6-4991-911c-f3dd9f1a475a 9ff2246f-8c56-445f-b2d9-aeeff5ce527a 10 73940732 73940733 - T INS ENSG00000200294 ENST00000363424 human ensembl 74_37 +1 novel rna NULL NULL 0.371:0.371 - - - no_errors SNORA36 RFAM ENSG00000200294 tier1 13 0 0.00 7 3 30.00 49 0 0.00 25 2 7.41