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 ENSG00000272231 0 genome.wustl.edu 37 12 74293700 74293707 + R DEL ACACACAC ACACACAC - TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 ACACACAC ACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 12 74293700 74293707 ACACACAC - DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.011:0.011:0.017:0.021:0.026:0.029:0.033:0.036 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 tier1 ENSG00000234978 0 genome.wustl.edu 37 1 142803240 142803240 + R SNP G G A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 1 142803240 142803240 G A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 rs76010818 - 46 0 0.00 68 12 15.00 AXIN2 0 genome.wustl.edu 37 17 63533733 63533735 + In_Frame_Del DEL TGG TGG - TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 17 63533733 63533735 TGG - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known in_frame_del c.1421_1419 p.H474in_frame_del 0.471:0.843:0.868 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 24 0 0.00 12 3 20.00 RBPJ 0 genome.wustl.edu 37 4 26364118 26364118 + R SNP G G A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 4 26364118 26364118 G A SNP RBPJ ENST00000511401 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RBPJ HGNC ENSG00000168214 tier1 - - 39 0 0.00 31 35 53.03 PSMC6 0 genome.wustl.edu 37 14 53176455 53176455 + R DEL T T - TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 14 53176455 53176455 T - DEL PSMC6 ENST00000554952 human ensembl 74_37 +1 known rna NULL NULL 0.141 - - - no_errors PSMC6 HGNC ENSG00000100519 tier1 11 0 0.00 28 7 20.00 ATRX 0 genome.wustl.edu 37 X 76938581 76938581 + Nonsense_Mutation SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 X 76938581 76938581 C A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.2167 p.E723* 0.125 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 26 0 0.00 21 33 61.11 BRAT1 0 genome.wustl.edu 37 7 2581443 2581443 + Missense_Mutation SNP G G A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 7 2581443 2581443 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.1043 p.A348V 0.002 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 tier1 - - 104 0 0.00 22 49 69.01 IGF1R 0 genome.wustl.edu 37 15 99456289 99456289 + Missense_Mutation SNP A A G TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 15 99456289 99456289 A G SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.1606 p.T536A 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 tier1 - - 35 0 0.00 26 25 49.02 FAM65A 0 genome.wustl.edu 37 16 67575479 67575479 + Nonsense_Mutation SNP G G A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 16 67575479 67575479 G A SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known nonsense c.1008 p.W336* 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 tier1 - - 36 0 0.00 3 21 87.50 MYH11 0 genome.wustl.edu 37 16 15797882 15797882 + Missense_Mutation SNP T T C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 16 15797882 15797882 T C SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.5906 p.D1969G 0.817 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 tier1 rs112999816 - 68 0 0.00 47 79 62.70 PLCH1 0 genome.wustl.edu 37 3 155215120 155215120 + Missense_Mutation SNP A A G TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 3 155215120 155215120 A G SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.1847 p.I616T 0.956 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 tier1 - - 34 0 0.00 76 50 39.68 SLC38A10 0 genome.wustl.edu 37 17 79257271 79257271 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 17 79257271 79257271 C T SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.295 p.A99T 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 tier1 - - 48 0 0.00 44 6 12.00 GPSM2 0 genome.wustl.edu 37 1 109444543 109444543 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 1 109444543 109444543 C T SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.929 p.A310V 0.995 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 tier1 - - 37 0 0.00 27 27 50.00 KRT71 0 genome.wustl.edu 37 12 52942539 52942539 + Silent SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 12 52942539 52942539 G T SNP KRT71 ENST00000267119 human ensembl 74_37 -1 known silent c.759 p.A253 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 tier1 - - 45 0 0.00 40 4 9.09 MEI1 0 genome.wustl.edu 37 22 42154406 42154406 + Silent SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 22 42154406 42154406 G T SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known silent c.1989 p.L663 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 tier1 - - 16 0 0.00 8 19 70.37 SPATA31A6 0 genome.wustl.edu 37 9 43627588 43627588 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 9 43627588 43627588 C T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1099 p.A367T 0.001 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 222 0 0.00 15 155 91.18 NCAN 0 genome.wustl.edu 37 19 19338775 19338775 + Missense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 19 19338775 19338775 G T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.2346 p.W782C 0.003 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,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,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 tier1 - - 50 0 0.00 33 4 10.81 PHRF1 0 genome.wustl.edu 37 11 605246 605246 + Missense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 11 605246 605246 G T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.1280 p.G427V 1.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 - - 32 0 0.00 9 9 50.00 CCDC162P 0 genome.wustl.edu 37 6 109630754 109630754 + R SNP A A C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 6 109630754 109630754 A C SNP CCDC162P ENST00000506861 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCDC162P HGNC ENSG00000203799 tier1 - - 32 0 0.00 23 37 61.67 HP 0 genome.wustl.edu 37 16 72093094 72093095 + Frame_Shift_Ins INS - - CTGAGCA TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 16 72093094 72093095 - CTGAGCA INS HP ENST00000569639 human ensembl 74_37 +1 putative frame_shift_ins c.272_273 p.*93fs 0.001:0.000 NULL superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors HP HGNC ENSG00000257017 tier1 NLRC5 0 genome.wustl.edu 37 16 57057759 57057759 + Missense_Mutation SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 16 57057759 57057759 C A SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.418 p.Q140K 0.999 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_CHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 tier1 - - 43 0 0.00 40 4 9.09 ENSG00000269688 0 genome.wustl.edu 37 19 39336125 39336125 + R SNP G G C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 19 39336125 39336125 G C SNP ENSG00000269688 ENST00000600473 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008982.2 Clone_based_vega_gene ENSG00000269688 tier1 - - 19 0 0.00 14 10 41.67 CENPV 0 genome.wustl.edu 37 17 16256372 16256372 + Nonsense_Mutation SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 17 16256372 16256372 C A SNP CENPV ENST00000299736 human ensembl 74_37 -1 known nonsense c.379 p.E127* 0.913 NULL pfam_GFA/CENP-V,superfamily_Mss4-like - no_errors CENPV HGNC ENSG00000166582 tier1 - - 22 0 0.00 12 4 25.00 LTBP3 0 genome.wustl.edu 37 11 65325326 65325334 + In_Frame_Del DEL CAGCAGCAG CAGCAGCAG - TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 CAGCAGCAG CAGCAGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 11 65325326 65325334 CAGCAGCAG - DEL LTBP3 ENST00000301873 human ensembl 74_37 -1 known in_frame_del c.105_97 p.LLL33in_frame_del 0.996:0.996:0.995:0.995:0.994:0.994:0.993:0.995:0.997 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 tier1 KRTAP10-9 0 genome.wustl.edu 37 21 46047916 46047916 + Nonsense_Mutation SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 21 46047916 46047916 C A SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known nonsense c.828 p.C276* 0.081 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 tier1 - - 107 0 0.00 50 45 47.37 TTI1 0 genome.wustl.edu 37 20 36625225 36625225 + Nonsense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 20 36625225 36625225 G T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known nonsense c.2924 p.S975* 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 - - 54 0 0.00 38 4 9.52 TP53 0 genome.wustl.edu 37 17 7577551 7577551 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 17 7577551 7577551 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.730 p.G244S 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 - - 47 0 0.00 4 34 89.47 KLHL26 0 genome.wustl.edu 37 19 18775148 18775148 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 19 18775148 18775148 C T SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.161 p.A54V 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL26 HGNC ENSG00000167487 tier1 - - 69 0 0.00 44 4 8.33 CEP135 0 genome.wustl.edu 37 4 56865763 56865763 + Silent SNP T T C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 4 56865763 56865763 T C SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known silent c.2232 p.D744 1.000 NULL superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 tier1 - - 74 0 0.00 102 30 22.73 USP30-AS1 0 genome.wustl.edu 37 12 109490426 109490427 + R INS - - CGGCGG TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 12 109490426 109490427 - CGGCGG INS USP30-AS1 ENST00000478808 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors USP30-AS1 HGNC ENSG00000256262 tier1 BOLL 0 genome.wustl.edu 37 2 198650830 198650830 + R SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 2 198650830 198650830 C A SNP BOLL ENST00000486206 human ensembl 74_37 -1 known rna NULL NULL 0.799 - - - no_errors BOLL HGNC ENSG00000152430 tier1 - - 48 0 0.00 33 4 10.81 SSPO 0 genome.wustl.edu 37 7 149477097 149477097 + R SNP G G C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 7 149477097 149477097 G C SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 63 0 0.00 48 7 12.73 TDRD3 0 genome.wustl.edu 37 13 61103259 61103260 + Frame_Shift_Ins INS - - A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 13 61103259 61103260 - A INS TDRD3 ENST00000535286 human ensembl 74_37 +1 known frame_shift_ins c.1900_1901 p.I636fs 1.000:1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 tier1 73 0 0.00 108 14 11.48 SNED1 0 genome.wustl.edu 37 2 242002240 242002240 + Missense_Mutation SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 2 242002240 242002240 C A SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.2290 p.H764N 0.998 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 68 0 0.00 20 4 16.67 GBA2 0 genome.wustl.edu 37 9 35740529 35740529 + Missense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 9 35740529 35740529 G T SNP GBA2 ENST00000545786 human ensembl 74_37 -1 known missense c.1141 p.P381T 1.000 pfam_GBA2_N,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 tier1 - - 32 0 0.00 26 4 13.33 YLPM1 0 genome.wustl.edu 37 14 75265723 75265723 + Silent SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 14 75265723 75265723 C A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.3723 p.L1241 0.858 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 37 0 0.00 28 4 12.50 GAN 0 genome.wustl.edu 37 16 81391444 81391444 + Missense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 16 81391444 81391444 G T SNP GAN ENST00000568107 human ensembl 74_37 +1 known missense c.881 p.C294F 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 tier1 - - 27 0 0.00 39 4 9.30 DCAF17 0 genome.wustl.edu 37 2 172291384 172291384 + R SNP G G A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 2 172291384 172291384 G A SNP DCAF17 ENST00000490217 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DCAF17 HGNC ENSG00000115827 tier1 - - 17 0 0.00 8 5 38.46 MMP3 0 genome.wustl.edu 37 11 102708089 102708089 + Missense_Mutation SNP G G C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 11 102708089 102708089 G C SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.1273 p.Q425E 0.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 12 0 0.00 41 14 25.45 CCSAP 0 genome.wustl.edu 37 1 229460176 229460176 + R SNP T T A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 1 229460176 229460176 T A SNP CCSAP ENST00000483092 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CCSAP HGNC ENSG00000154429 tier1 - - 66 0 0.00 70 11 13.58 SEC31B 0 genome.wustl.edu 37 10 102258919 102258919 + Missense_Mutation SNP G G C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 10 102258919 102258919 G C SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.1582 p.Q528E 0.760 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 tier1 - - 19 0 0.00 22 16 42.11 ROS1 0 genome.wustl.edu 37 6 117737431 117737431 + Missense_Mutation SNP G G C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 6 117737431 117737431 G C SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.218 p.A73G 0.990 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 - - 29 0 0.00 28 30 51.72 ADAM2 0 genome.wustl.edu 37 8 39613417 39613417 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 8 39613417 39613417 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.1627 p.G543R 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 106 0 0.00 131 128 49.42 PFKFB4 0 genome.wustl.edu 37 3 48581056 48581056 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 3 48581056 48581056 C T SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.335 p.R112H 0.462 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 tier1 rs147704999 - 25 0 0.00 13 19 59.38 TMEM25 0 genome.wustl.edu 37 11 118406329 118406336 + Frame_Shift_Del DEL AGTGTGGA AGTGTGGA - TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 AGTGTGGA AGTGTGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 11 118406329 118406336 AGTGTGGA - DEL TMEM25 ENST00000533102 human ensembl 74_37 +1 known frame_shift_del c.1131_1138 p.V378fs 0.003:0.003:0.001:0.002:0.000:0.000:0.001:0.000 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors TMEM25 HGNC ENSG00000149582 tier1 KCNH2 0 genome.wustl.edu 37 7 150655495 150655503 + In_Frame_Del DEL CGCCCGCGC CGCCCGCGC - TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 CGCCCGCGC CGCCCGCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 7 150655495 150655503 CGCCCGCGC - DEL KCNH2 ENST00000262186 human ensembl 74_37 -1 known in_frame_del c.568_560 p.GAG187in_frame_del 0.728:0.003:0.030:0.030:0.005:0.007:0.000:0.000:0.006 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 tier1 JAK3 0 genome.wustl.edu 37 19 17951086 17951086 + Missense_Mutation SNP G G A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 19 17951086 17951086 G A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1207 p.R403C 0.960 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 19 0 0.00 25 13 34.21 KCNH7 0 genome.wustl.edu 37 2 163279793 163279793 + Missense_Mutation SNP G G A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 2 163279793 163279793 G A SNP KCNH7 ENST00000328032 human ensembl 74_37 -1 known missense c.2186 p.A729V 0.158 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_PAS,superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 tier1 - - 38 0 0.00 75 10 11.76 RANBP2 0 genome.wustl.edu 37 2 109384558 109384558 + Silent SNP T T A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 2 109384558 109384558 T A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.7563 p.V2521 0.971 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 tier1 - - 169 0 0.00 150 122 44.85 PPIEL 0 genome.wustl.edu 37 1 39990865 39990865 + R SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 1 39990865 39990865 C A SNP PPIEL ENST00000331856 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-69E11.4 Clone_based_vega_gene ENSG00000182109 tier1 - - 73 0 0.00 50 33 39.76 TRPA1 0 genome.wustl.edu 37 8 72935420 72935458 + R DEL GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC - TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 8 72935420 72935458 GCATAGGTTTTAACCTCGGTCCCTTCTGAATGTAGGAAC - DEL TRPA1 ENST00000520596 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.001:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors TRPA1 HGNC ENSG00000104321 tier1 TRIML1 0 genome.wustl.edu 37 4 189063511 189063511 + Nonsense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 4 189063511 189063511 G T SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known nonsense c.610 p.E204* 0.823 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,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 TRIML1 HGNC ENSG00000184108 tier1 - - 39 0 0.00 28 22 44.00 PAXIP1 0 genome.wustl.edu 37 7 154760424 154760424 + Missense_Mutation SNP G G T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 7 154760424 154760424 G T SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.1487 p.A496D 0.999 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 - - 34 0 0.00 27 4 12.90 CELP 0 genome.wustl.edu 37 9 135962585 135962586 + R INS - - GCCCCATCCCCCCTACGGGGGACTCTGGGGCC TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 9 135962585 135962586 - GCCCCATCCCCCCTACGGGGGACTCTGGGGCC INS CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.130:0.000 - - - no_errors CELP HGNC ENSG00000170827 tier1 TLL1 0 genome.wustl.edu 37 4 166910546 166910546 + Silent SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 4 166910546 166910546 C T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.183 p.G61 0.996 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 23 0 0.00 63 54 46.15 RUSC1 0 genome.wustl.edu 37 1 155295207 155295207 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 1 155295207 155295207 C T SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.1634 p.P545L 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 tier1 - - 20 0 0.00 12 13 52.00 SSX7 0 genome.wustl.edu 37 X 52681341 52681341 + Missense_Mutation SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 X 52681341 52681341 C T SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known missense c.241 p.G81R 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 tier1 - - 109 0 0.00 56 116 67.05 NTSR1 0 genome.wustl.edu 37 20 61340995 61340995 + Missense_Mutation SNP T T C TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 20 61340995 61340995 T C SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known missense c.436 p.F146L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 tier1 - - 53 0 0.00 25 11 30.56 RP1 0 genome.wustl.edu 37 8 55541768 55541768 + Missense_Mutation SNP C C A TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 8 55541768 55541768 C A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5326 p.L1776I 0.963 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 22 0 0.00 25 23 47.92 SATL1 0 genome.wustl.edu 37 X 84363261 84363261 + Silent SNP C C T TCGA-3B-A9I1-01A-11D-A38Z-09 TCGA-3B-A9I1-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b3b4785-3d62-4dd2-8051-2ce017c9e248 4843c7f9-2185-4436-b5a9-7526d6aca0c9 X 84363261 84363261 C T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known silent c.714 p.K238 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 22 0 0.00 39 20 33.90