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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val ATP11C 0 genome.wustl.edu 37 X 138886758 138886758 + Missense_Mutation SNP C C A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b X 138886758 138886758 C A SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.436 p.V146F 1 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 0 no_errors 0 0 0 95 0 0 169 18 9.63 92 0 0.00 106 9 7.83 MSH4 0 genome.wustl.edu 37 1 76342640 76342640 + Missense_Mutation SNP A A G TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 1 76342640 76342640 A G SNP MSH4 ENST00000263187 human ensembl 74_37 1 known missense c.1325 p.N442S 0.627 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C 0 no_errors 0 0 0 66 0 0 75 25 25 171 0 0.00 154 46 23.00 PRG4 0 genome.wustl.edu 37 1 186275527 186275527 + Silent SNP T T C TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 1 186275527 186275527 T C SNP PRG4 ENST00000445192 human ensembl 74_37 1 known silent c.676 p.L226 0.712 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom 0 no_errors 0 0 0 59 0 0 67 18 21.18 226 0 0.00 209 81 27.65 SEL1L3 0 genome.wustl.edu 37 4 25780763 25780763 + Nonsense_Mutation SNP C C T TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 4 25780763 25780763 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known nonsense c.2520 p.W840* 1 smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like 0 no_errors 0 0 0 52 0 0 28 17 37.78 209 0 0.00 155 56 26.54 ADAMTS3 0 genome.wustl.edu 37 4 73177944 73177944 + RNA SNP C C A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 4 73177944 73177944 C A SNP ADAMTS3 ENST00000511274 human ensembl 74_37 -1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 49 0 0 37 24 39.34 186 0 0.00 162 72 30.77 UBLCP1 0 genome.wustl.edu 37 5 158697618 158697618 + Missense_Mutation SNP C C G TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 5 158697618 158697618 C G SNP UBLCP1 ENST00000296786 human ensembl 74_37 1 known missense c.415 p.L139V 1 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_HAD-SF_hydro_IIID pfam_NIF,pfam_Ubiquitin_dom,superfamily_HAD-like_dom,smart_Ubiquitin_dom,smart_NIF,pfscan_NIF,pfscan_Ubiquitin_supergroup,tigrfam_HAD-SF_hydro_IIID 0 no_errors 0 0 0 32 0 0 64 12 15.79 236 0 0.00 190 93 32.86 ZSCAN12 0 genome.wustl.edu 37 6 28358990 28358990 + Silent SNP G G A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 6 28358990 28358990 G A SNP ZSCAN12 ENST00000361028 human ensembl 74_37 -1 known silent c.1077 p.H359 0.895 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN 0 no_errors 0 0 0 133 0 0 165 26 13.61 150 0 0.00 155 12 7.19 FIG4 0 genome.wustl.edu 37 6 110062669 110062669 + Silent SNP A A G TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 6 110062669 110062669 A G SNP FIG4 ENST00000230124 human ensembl 74_37 1 known silent c.798 p.P266 0.869 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N 0 no_errors 0 0 0 48 0 0 62 5 7.46 223 0 0.00 209 24 10.30 GTF2I 0 genome.wustl.edu 37 7 74146970 74146970 + Missense_Mutation SNP T T A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 7 74146970 74146970 T A SNP GTF2I ENST00000324896 human ensembl 74_37 1 known missense c.1271 p.L424H 1 pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I 0 no_errors 0 0 0 225 0 0 292 101 25.7 130 0 0.00 84 46 35.38 FSCN3 0 genome.wustl.edu 37 7 127240363 127240363 + Missense_Mutation SNP C C G TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 7 127240363 127240363 C G SNP FSCN3 ENST00000420086 human ensembl 74_37 1 known missense c.1000 p.P334A 0.96 NULL pfam_Fascin-domain,superfamily_Actin_cross-linking 0 no_errors 0 0 0 63 0 0 55 13 19.12 145 1 0.68 122 48 28.24 CSMD1 0 genome.wustl.edu 37 8 3855580 3855580 + Silent SNP G G A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 8 3855580 3855580 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known silent c.663 p.S221 1 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP 0 no_errors 0 0 0 60 0 0 47 15 24.19 153 0 0.00 96 44 31.43 NTRK2 0 genome.wustl.edu 37 9 87285831 87285831 + Silent SNP G G A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 9 87285831 87285831 G A SNP NTRK2 ENST00000277120 human ensembl 74_37 1 known silent c.168 p.P56 0.613 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 0 no_errors 0 0 0 69 0 0 57 24 29.63 129 0 0.00 79 35 30.70 COL17A1 0 genome.wustl.edu 37 10 105796368 105796368 + Silent SNP T T C TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 10 105796368 105796368 T C SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.3300 p.L1100 0.061 NULL pfam_Collagen 0 no_errors 0 0 0 27 0 0 19 7 26.92 87 0 0.00 61 22 26.51 OTOGL 0 genome.wustl.edu 37 12 80752501 80752501 + Missense_Mutation SNP A A G TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 12 80752501 80752501 A G SNP OTOGL ENST00000458043 human ensembl 74_37 1 known missense c.6145 p.M2049V 1 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C 0 no_errors 0 0 0 45 0 0 48 27 36 224 0 0.00 203 71 25.91 LTBP2 0 genome.wustl.edu 37 14 75052588 75052588 + Missense_Mutation SNP A A C TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 14 75052588 75052588 A C SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.799 p.S267A 0.592 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom 0 no_errors 0 0 0 72 0 0 46 15 24.59 155 1 0.64 85 18 17.31 TSHZ1 0 genome.wustl.edu 37 18 72999958 72999958 + Missense_Mutation SNP G G A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 18 72999958 72999958 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 1 known missense c.2596 p.D866N 1 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 0 no_errors 0 0 0 32 0 0 20 7 25.93 129 0 0.00 95 26 21.49 CACNA1A 0 genome.wustl.edu 37 19 13340904 13340904 + Silent SNP G G A TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 19 13340904 13340904 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.5520 p.P1840 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su 0 no_errors 0 0 0 32 1 3.03 32 14 30.43 159 1 0.62 136 49 26.34 ENSG00000230615 0 genome.wustl.edu 37 1 44569967 44569968 + RNA INS - - GCC TCGA-5V-A9RR-01A-11D-A423-09 TCGA-5V-A9RR-10A-01D-A426-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a3666d9a-a700-4585-b624-fd77c56d8eed 3fcb2ae1-134f-4863-b07a-9589142ada4b 1 44569967 44569968 0 GCC INS ENSG00000230615 ENST00000434244 human ensembl 74_37 1 known rna NULL NULL 1.000:0.999 0 0 0 no_errors rs369247676 T->TGCC 0 16 0 0 21 6 22.22 0 0 0.00 0 0 0.00