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 ZNF547 0 genome.wustl.edu 37 19 57889153 57889153 + Missense_Mutation SNP G G T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 19 57889153 57889153 G T SNP ZNF547 ENST00000282282 human ensembl 74_37 +1 known missense c.809 p.C270F 0.321 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 ZNF547 HGNC ENSG00000152433 tier1 - - 112 0 0.00 65 16 19.75 MSLNL 0 genome.wustl.edu 37 16 824427 824427 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 16 824427 824427 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.1814 p.A605V 0.020 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 tier1 - - 15 0 0.00 9 10 52.63 CCDC151 0 genome.wustl.edu 37 19 11537380 11537380 + Silent SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 19 11537380 11537380 G A SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known silent c.726 p.L242 0.012 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 - - 172 0 0.00 73 46 38.66 PPP1R21 0 genome.wustl.edu 37 2 48734478 48734478 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 2 48734478 48734478 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.2039 p.S680F 0.923 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 203 0 0.00 151 62 29.11 PRRC2A 0 genome.wustl.edu 37 6 31599565 31599565 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 6 31599565 31599565 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.3115 p.R1039W 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 161 1 0.61 110 38 25.68 PLCD3 0 genome.wustl.edu 37 17 43196223 43196223 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 17 43196223 43196223 C T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.872 p.R291H 0.405 pfam_PLipase_C_EF-hand-like 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 tier1 - - 104 0 0.00 83 24 22.22 ENSG00000225411 0 genome.wustl.edu 37 9 68400679 68400680 + R INS - - AGCTA TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 9 68400679 68400680 - AGCTA INS ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.017:0.017 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 FHL1 0 genome.wustl.edu 37 X 135291453 135291453 + Missense_Mutation SNP C C A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 X 135291453 135291453 C A SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known missense c.740 p.P247H 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 tier1 - - 62 0 0.00 32 27 45.76 MAML3 0 genome.wustl.edu 37 4 140641346 140641346 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 4 140641346 140641346 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.2548 p.A850T 0.170 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 68 0 0.00 14 56 80.00 CPSF7 0 genome.wustl.edu 37 11 61188968 61188968 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 11 61188968 61188968 C T SNP CPSF7 ENST00000340437 human ensembl 74_37 -1 known missense c.296 p.R99H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 tier1 rs200597857 - 200 0 0.00 102 68 40.00 GSPT2 0 genome.wustl.edu 37 X 51486909 51486909 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 X 51486909 51486909 G A SNP GSPT2 ENST00000340438 human ensembl 74_37 +1 known missense c.187 p.V63I 0.998 pfam_Ataxin-2_C pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors GSPT2 HGNC ENSG00000189369 tier1 - - 131 1 0.76 56 35 38.46 KIF19 0 genome.wustl.edu 37 17 72346862 72346862 + Missense_Mutation SNP T T A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 17 72346862 72346862 T A SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.1405 p.S469T 0.594 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 - - 169 0 0.00 88 72 43.64 PTEN 0 genome.wustl.edu 37 10 89685305 89685305 + Missense_Mutation SNP T T A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 10 89685305 89685305 T A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.200 p.I67K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 - - 166 0 0.00 29 104 78.20 SYK 0 genome.wustl.edu 37 9 93624510 93624510 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 9 93624510 93624510 G A SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.601 p.G201S 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 tier1 - - 127 0 0.00 79 78 49.37 RTL1 0 genome.wustl.edu 37 14 101348435 101348435 + Silent SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 14 101348435 101348435 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.2691 p.T897 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 133 1 0.75 62 28 31.11 DCAF8L2 0 genome.wustl.edu 37 X 27765400 27765408 + In_Frame_Del DEL GAGGAGGAG GAGGAGGAG - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 GAGGAGGAG GAGGAGGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 X 27765400 27765408 GAGGAGGAG - DEL DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known in_frame_del c.388_396 p.EEE133in_frame_del 0.007:0.003:0.002:0.002:0.001:0.000:0.000:0.000:0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 PCDH12 0 genome.wustl.edu 37 5 141335172 141335172 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 5 141335172 141335172 C T SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.2245 p.A749T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 tier1 - - 76 0 0.00 55 6 9.84 DDX41 0 genome.wustl.edu 37 5 176938889 176938889 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 5 176938889 176938889 C T SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known missense c.1772 p.R591Q 0.999 superfamily_Znf_CCHC pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 tier1 - - 87 0 0.00 53 49 48.04 CCDC19 0 genome.wustl.edu 37 1 159846347 159846347 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 1 159846347 159846347 G A SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1351 p.R451W 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 tier1 - - 109 1 0.91 18 56 75.68 IDO1 0 genome.wustl.edu 37 8 39776355 39776355 + Missense_Mutation SNP G G C TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 8 39776355 39776355 G C SNP IDO1 ENST00000518237 human ensembl 74_37 +1 known missense c.325 p.V109L 0.461 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO1 HGNC ENSG00000131203 tier1 - - 174 0 0.00 83 32 27.83 AK9 0 genome.wustl.edu 37 6 109996917 109996917 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 6 109996917 109996917 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.32 p.P11L 0.999 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 204 0 0.00 161 101 38.55 AHK 0 genome.wustl.edu 37 11 62294150 62294150 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 11 62294150 62294150 G A SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.7739 p.S2580F 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 345 0 0.00 249 28 10.11 MUC16 0 genome.wustl.edu 37 19 9076876 9076876 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 19 9076876 9076876 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.10570 p.E3524K 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 265 0 0.00 112 79 41.36 VPS51 0 genome.wustl.edu 37 11 64877351 64877351 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 11 64877351 64877351 G A SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.1834 p.V612I 1.000 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 tier1 - - 162 0 0.00 35 48 57.83 BCL11A 0 genome.wustl.edu 37 2 60688425 60688425 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 2 60688425 60688425 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1622 p.R541H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 tier1 - - 22 0 0.00 7 12 63.16 DCHS1 0 genome.wustl.edu 37 11 6643466 6643466 + Silent SNP C C G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 11 6643466 6643466 C G SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.9441 p.L3147 0.998 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 83 0 0.00 12 47 79.66 GLIS1 0 genome.wustl.edu 37 1 54060320 54060320 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 1 54060320 54060320 C T SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.256 p.V86I 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 160 0 0.00 129 110 45.83 ENSG00000206195 0 genome.wustl.edu 37 22 16150827 16150827 + R SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 22 16150827 16150827 C T SNP ENSG00000206195 ENST00000413768 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors AP000525.9 Clone_based_vega_gene ENSG00000206195 tier1 rs199764989 - 12 0 0.00 6 4 40.00 SOX17 0 genome.wustl.edu 37 8 55372529 55372529 + Missense_Mutation SNP T T C TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 8 55372529 55372529 T C SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.1219 p.Y407H 0.998 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 tier1 - - 93 0 0.00 56 23 29.11 ZNF519 0 genome.wustl.edu 37 18 14105364 14105364 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 18 14105364 14105364 G A SNP ZNF519 ENST00000590202 human ensembl 74_37 -1 known missense c.1175 p.T392I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF519 HGNC ENSG00000175322 tier1 - - 104 0 0.00 62 62 50.00 ENSG00000273312 0 genome.wustl.edu 37 10 35896211 35896212 + R INS - - TGCTCT TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 10 35896211 35896212 - TGCTCT INS ENSG00000273312 ENST00000609313 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-425A6.5 Clone_based_vega_gene ENSG00000273312 tier1 TM4SF1 0 genome.wustl.edu 37 3 149093526 149093526 + Missense_Mutation SNP G G T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 3 149093526 149093526 G T SNP TM4SF1 ENST00000305366 human ensembl 74_37 -1 known missense c.208 p.L70M 0.536 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF1 HGNC ENSG00000169908 tier1 - - 55 0 0.00 21 15 41.67 DCHS1 0 genome.wustl.edu 37 11 6653374 6653374 + Silent SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 11 6653374 6653374 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.3369 p.S1123 0.895 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 107 0 0.00 13 59 80.82 AP1AR 0 genome.wustl.edu 37 4 113189426 113189439 + Frame_Shift_Del DEL GGCTGGAGTGGGAA GGCTGGAGTGGGAA - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 GGCTGGAGTGGGAA GGCTGGAGTGGGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 4 113189426 113189439 GGCTGGAGTGGGAA - DEL AP1AR ENST00000274000 human ensembl 74_37 +1 known frame_shift_del c.770_783 p.G257fs 1.000:0.976:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL - no_errors AP1AR HGNC ENSG00000138660 tier1 TP53 0 genome.wustl.edu 37 17 7578213 7578213 + Frame_Shift_Del DEL A A - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 17 7578213 7578213 A - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.636 p.R213fs 0.000 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 121 0 0.00 31 94 75.20 HTATIP2 0 genome.wustl.edu 37 11 20385381 20385382 + In_Frame_Ins INS - - GCGGCG TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 11 20385381 20385382 - GCGGCG INS HTATIP2 ENST00000419348 human ensembl 74_37 +1 known in_frame_ins c.24_25 p.12in_frame_insAA 0.320:0.178 NULL pfam_Semialdehyde_DH_D-bd - no_errors HTATIP2 HGNC ENSG00000109854 tier1 FRMPD1 0 genome.wustl.edu 37 9 37744414 37744414 + Silent SNP C C A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 9 37744414 37744414 C A SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known silent c.2385 p.P795 0.144 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 tier1 - - 207 0 0.00 171 106 38.27 PSMC3IP 0 genome.wustl.edu 37 17 40725008 40725008 + Missense_Mutation SNP T T G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 17 40725008 40725008 T G SNP PSMC3IP ENST00000393795 human ensembl 74_37 -1 known missense c.632 p.N211T 0.040 NULL pfam_TBPIP,pfam_BlaI_family - no_errors PSMC3IP HGNC ENSG00000131470 tier1 - - 79 0 0.00 50 28 35.90 USP27X-AS1 0 genome.wustl.edu 37 X 49641821 49641821 + R SNP C C G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 X 49641821 49641821 C G SNP USP27X-AS1 ENST00000437322 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP27X-AS1 HGNC ENSG00000234390 tier1 - - 39 0 0.00 12 11 47.83 GCM1 0 genome.wustl.edu 37 6 52993032 52993032 + Missense_Mutation SNP A A G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 6 52993032 52993032 A G SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known missense c.1283 p.M428T 0.761 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 tier1 - - 79 0 0.00 68 50 42.37 MAP3K7CL 0 genome.wustl.edu 37 21 30505648 30505648 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 21 30505648 30505648 G A SNP MAP3K7CL ENST00000286791 human ensembl 74_37 +1 known missense c.392 p.R131Q 0.025 NULL NULL - no_errors MAP3K7CL HGNC ENSG00000156265 tier1 - - 110 0 0.00 96 74 43.53 XKR7 0 genome.wustl.edu 37 20 30584527 30584527 + Missense_Mutation SNP G G T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 20 30584527 30584527 G T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1007 p.W336L 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 tier1 - - 73 0 0.00 12 44 78.57 SCN5A 0 genome.wustl.edu 37 3 38592282 38592282 + Missense_Mutation SNP C C A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 3 38592282 38592282 C A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5581 p.V1861F 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 265 1 0.38 111 84 43.08 SSBP3 0 genome.wustl.edu 37 1 54691919 54691920 + R INS - - GAA TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 1 54691919 54691920 - GAA INS SSBP3 ENST00000326956 human ensembl 74_37 -1 known rna NULL NULL 0.706:0.379 - - - no_errors SSBP3 HGNC ENSG00000157216 tier1 10 0 0.00 6 5 45.45 DOCK1 0 genome.wustl.edu 37 10 129231688 129231688 + Missense_Mutation SNP G G T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 10 129231688 129231688 G T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.4993 p.D1665Y 0.999 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 142 0 0.00 16 76 82.61 ARHGEF7 0 genome.wustl.edu 37 13 111955453 111955453 + Missense_Mutation SNP A A G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 13 111955453 111955453 A G SNP ARHGEF7 ENST00000370623 human ensembl 74_37 +1 known missense c.2189 p.N730S 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CH-domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 tier1 - - 79 0 0.00 12 52 81.25 CDKN2D 0 genome.wustl.edu 37 19 10677946 10677946 + Missense_Mutation SNP C C A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 19 10677946 10677946 C A SNP CDKN2D ENST00000335766 human ensembl 74_37 -1 known missense c.289 p.G97W 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2D HGNC ENSG00000129355 tier1 - - 67 0 0.00 47 18 27.69 NSUN5P1 0 genome.wustl.edu 37 7 75044036 75044036 + R SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 7 75044036 75044036 C T SNP NSUN5P1 ENST00000393633 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors NSUN5P1 HGNC ENSG00000223705 tier1 - - 45 0 0.00 10 42 80.77 RB1 0 genome.wustl.edu 37 13 49039415 49039415 + Frame_Shift_Del DEL T T - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 13 49039415 49039415 T - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.2400 p.G801fs 1.000 pfam_RB_C pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 85 0 0.00 29 32 52.46 WBP2NL 0 genome.wustl.edu 37 22 42398850 42398854 + R DEL TACTT TACTT - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 TACTT TACTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 22 42398850 42398854 TACTT - DEL WBP2NL ENST00000461730 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.003:0.012:0.016:0.015 - - - no_errors WBP2NL HGNC ENSG00000183066 tier1 RIMS2 0 genome.wustl.edu 37 8 105235995 105235995 + Missense_Mutation SNP T T A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 8 105235995 105235995 T A SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known missense c.116 p.M39K 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 178 0 0.00 81 50 38.17 ANKRD20A5P 0 genome.wustl.edu 37 18 14179480 14179480 + R SNP C C G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 18 14179480 14179480 C G SNP ANKRD20A5P ENST00000581181 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 216 0 0.00 190 72 27.38 UGT2B11 0 genome.wustl.edu 37 4 70079984 70079984 + Missense_Mutation SNP C C G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 4 70079984 70079984 C G SNP UGT2B11 ENST00000446444 human ensembl 74_37 -1 known missense c.457 p.V153L 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 tier1 rs139371276 - 250 0 0.00 57 178 75.74 ABCC3 0 genome.wustl.edu 37 17 48760996 48760996 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 17 48760996 48760996 G A SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.3833 p.R1278H 0.708 superfamily_P-loop_NTPase,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 tier1 - - 170 1 0.58 66 97 59.51 ITGA1 0 genome.wustl.edu 37 5 52177853 52177853 + Missense_Mutation SNP G G T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 5 52177853 52177853 G T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.773 p.R258I 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 ITGA1 HGNC ENSG00000213949 tier1 - - 36 0 0.00 26 16 38.10 PCDHGA11 0 genome.wustl.edu 37 5 140801354 140801354 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 5 140801354 140801354 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.560 p.T187M 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 - - 39 0 0.00 36 14 28.00 CFDP1 0 genome.wustl.edu 37 16 75327732 75327732 + R DEL A A - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 16 75327732 75327732 A - DEL CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 tier1 71 0 0.00 46 7 13.21 SNORA30 0 genome.wustl.edu 37 16 30721932 30721932 + R SNP T T G TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 16 30721932 30721932 T G SNP SNORA30 ENST00000384028 human ensembl 74_37 +1 known rna NULL NULL 0.456 - - - no_errors SNORA30 HGNC ENSG00000206755 tier1 - - 105 0 0.00 68 19 21.84 FBN1 0 genome.wustl.edu 37 15 48703246 48703277 + Frame_Shift_Del DEL AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 15 48703246 48703277 AGTCTTTGTCATATTTGTCTTCTAGTTGGTTA - DEL FBN1 ENST00000316623 human ensembl 74_37 -1 known frame_shift_del c.8557_8526 p.N2843fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.980:0.975:0.898:0.828 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 PPP1R21 0 genome.wustl.edu 37 2 48734480 48734480 + Nonsense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 2 48734480 48734480 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known nonsense c.2041 p.Q681* 1.000 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 208 0 0.00 149 61 29.05 ALDH5A1 0 genome.wustl.edu 37 6 24502780 24502780 + Silent SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 6 24502780 24502780 C T SNP ALDH5A1 ENST00000348925 human ensembl 74_37 +1 known silent c.384 p.Y128 0.989 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 tier1 - - 189 0 0.00 74 105 58.66 EIF5B 0 genome.wustl.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 2 99977775 99977777 TGA - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known in_frame_del c.411_413 p.D141in_frame_del 1.000:1.000:1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 33 0 0.00 18 4 18.18 CRIP3 0 genome.wustl.edu 37 6 43275460 43275460 + Missense_Mutation SNP C C T TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 6 43275460 43275460 C T SNP CRIP3 ENST00000274990 human ensembl 74_37 -1 known missense c.218 p.G73D 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP3 HGNC ENSG00000146215 tier1 - - 137 0 0.00 107 43 28.67 TEKT4 0 genome.wustl.edu 37 2 95540568 95540568 + Missense_Mutation SNP G G A TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 2 95540568 95540568 G A SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.761 p.C254Y 0.001 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 tier1 - - 298 0 0.00 52 154 74.76 SNORA30 0 genome.wustl.edu 37 16 30721934 30721935 + R INS - - C TCGA-LI-A67I-01A-31D-A307-09 TCGA-LI-A67I-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 002585e4-d695-47b6-af2c-3429073bc0b4 3f1693c5-913e-4965-a931-af97a11388c6 16 30721934 30721935 - C INS SNORA30 ENST00000384028 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors SNORA30 HGNC ENSG00000206755 tier1 106 0 0.00 73 18 19.78