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 STOML2 0 genome.wustl.edu 37 9 35100719 35100719 + Missense_Mutation SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 9 35100719 35100719 C T SNP STOML2 ENST00000356493 human ensembl 74_37 -1 known missense c.809 p.G270E 1.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 tier1 - - 50 0 0.00 24 13 35.14 MALAT1 0 genome.wustl.edu 37 11 65271780 65271780 + R DEL T T - TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 11 65271780 65271780 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 23 0 0.00 22 5 18.52 HUWE1 0 genome.wustl.edu 37 X 53573735 53573735 + Missense_Mutation SNP C C G TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 X 53573735 53573735 C G SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10688 p.G3563A 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 34 0 0.00 21 7 25.00 KCNV1 0 genome.wustl.edu 37 8 110980696 110980696 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 8 110980696 110980696 G T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.1124 p.T375N 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 36 0 0.00 31 10 24.39 CAC1S 0 genome.wustl.edu 37 1 201009019 201009019 + Silent SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 1 201009019 201009019 G A SNP CAC1S ENST00000362061 human ensembl 74_37 -1 known silent c.5562 p.S1854 0.906 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CAC1S HGNC ENSG00000081248 tier1 - - 34 0 0.00 31 10 24.39 MAPK8IP3 0 genome.wustl.edu 37 16 1814328 1814328 + Silent SNP G G C TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 16 1814328 1814328 G C SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.2145 p.L715 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 45 0 0.00 24 21 46.67 ITPKA 0 genome.wustl.edu 37 15 41793952 41793952 + Missense_Mutation SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 15 41793952 41793952 G A SNP ITPKA ENST00000260386 human ensembl 74_37 +1 known missense c.706 p.G236S 1.000 NULL pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 tier1 - - 31 0 0.00 55 16 22.54 ABHD4 0 genome.wustl.edu 37 14 23078791 23078791 + Missense_Mutation SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 14 23078791 23078791 G A SNP ABHD4 ENST00000428304 human ensembl 74_37 +1 known missense c.914 p.R305Q 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD4 HGNC ENSG00000100439 tier1 - - 54 0 0.00 17 31 64.58 NRP1 0 genome.wustl.edu 37 10 33510663 33510663 + Silent SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 10 33510663 33510663 G A SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known silent c.1266 p.Y422 0.998 pirsf_Neuropilin,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 tier1 rs2229935 - 96 0 0.00 22 5 18.52 RBP3 0 genome.wustl.edu 37 10 48388773 48388773 + Frame_Shift_Del DEL A A - TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 10 48388773 48388773 A - DEL RBP3 ENST00000224600 human ensembl 74_37 -1 known frame_shift_del c.2105 p.F702fs 1.000 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 47 0 0.00 13 2 13.33 HERC2 0 genome.wustl.edu 37 15 28501459 28501459 + Missense_Mutation SNP T T G TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 15 28501459 28501459 T G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.2522 p.H841P 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 116 0 0.00 105 28 20.90 SRPX2 0 genome.wustl.edu 37 X 99905993 99905993 + R SNP A A G TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 X 99905993 99905993 A G SNP SRPX2 ENST00000481988 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors SRPX2 HGNC ENSG00000102359 tier1 - - 13 0 0.00 7 4 36.36 STAT5A 0 genome.wustl.edu 37 17 40441970 40441970 + Missense_Mutation SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 17 40441970 40441970 C T SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known missense c.215 p.A72V 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 tier1 - - 34 0 0.00 18 10 35.71 MYH14 0 genome.wustl.edu 37 19 50813026 50813026 + Silent SNP C C A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 19 50813026 50813026 C A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.6090 p.S2030 0.001 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 35 0 0.00 30 14 31.82 BOD1L1 0 genome.wustl.edu 37 4 13604281 13604281 + Missense_Mutation SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 4 13604281 13604281 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.4243 p.D1415N 0.004 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 116 0 0.00 55 32 36.78 GATA2 0 genome.wustl.edu 37 3 128202738 128202738 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 3 128202738 128202738 G T SNP GATA2 ENST00000341105 human ensembl 74_37 -1 known missense c.982 p.Q328K 1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 tier1 - - 61 0 0.00 45 14 23.73 TBC1D8B 0 genome.wustl.edu 37 X 106061981 106061981 + Missense_Mutation SNP A A T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 X 106061981 106061981 A T SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.219 p.Q73H 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 tier1 - - 73 0 0.00 65 25 27.78 EFCAB7 0 genome.wustl.edu 37 1 64036710 64036710 + Missense_Mutation SNP A A T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 1 64036710 64036710 A T SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.1726 p.I576F 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 tier1 - - 62 0 0.00 7 37 84.09 NBPF12 0 genome.wustl.edu 37 1 146408160 146408160 + Silent SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 1 146408160 146408160 C T SNP NBPF12 ENST00000446760 human ensembl 74_37 +1 known silent c.981 p.N327 0.001 NULL pfam_NBPF_dom - no_errors NBPF12 HGNC ENSG00000186275 tier1 - - 180 0 0.00 131 63 32.31 SLC2A2 0 genome.wustl.edu 37 3 170723133 170723133 + Missense_Mutation SNP G G C TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 3 170723133 170723133 G C SNP SLC2A2 ENST00000314251 human ensembl 74_37 -1 known missense c.904 p.Q302E 0.986 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 tier1 - - 52 0 0.00 50 10 16.67 HS1BP3 0 genome.wustl.edu 37 2 20840695 20840695 + Silent SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 2 20840695 20840695 G A SNP HS1BP3 ENST00000406618 human ensembl 74_37 -1 putative silent c.444 p.P148 0.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 tier1 - - 68 0 0.00 41 35 46.05 RP1L1 0 genome.wustl.edu 37 8 10480360 10480360 + Missense_Mutation SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 8 10480360 10480360 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.352 p.R118W 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 rs200121539 - 84 0 0.00 53 23 30.26 ENSG00000215954 0 genome.wustl.edu 37 11 112118610 112118619 + R DEL ACACACACAC ACACACACAC - TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 ACACACACAC ACACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 11 112118610 112118619 ACACACACAC - DEL ENSG00000215954 ENST00000401135 human ensembl 74_37 +1 novel rna NULL NULL 0.028:0.021:0.024:0.025:0.042:0.052:0.057:0.059:0.067:0.070 - - - no_errors AP002884.1 Clone_based_ensembl_gene ENSG00000215954 tier1 FAM120A 0 genome.wustl.edu 37 9 96318801 96318801 + Silent SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 9 96318801 96318801 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known silent c.2496 p.G832 0.996 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 - - 57 0 0.00 53 24 31.17 FLCN 0 genome.wustl.edu 37 17 17129630 17129630 + Missense_Mutation SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 17 17129630 17129630 G A SNP FLCN ENST00000285071 human ensembl 74_37 -1 known missense c.256 p.R86W 1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 tier1 - - 68 0 0.00 29 28 49.12 HNF1B 0 genome.wustl.edu 37 17 36091616 36091616 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 17 36091616 36091616 G T SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known missense c.1015 p.P339T 1.000 pfam_HNF1b_C 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 - - 65 0 0.00 32 19 37.25 DDX26B 0 genome.wustl.edu 37 X 134713794 134713794 + Missense_Mutation SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 X 134713794 134713794 C T SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known missense c.2090 p.A697V 0.001 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 tier1 - - 38 0 0.00 43 17 28.33 KIAA1432 0 genome.wustl.edu 37 9 5720614 5720614 + Frame_Shift_Del DEL T T - TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 9 5720614 5720614 T - DEL KIAA1432 ENST00000418622 human ensembl 74_37 +1 known frame_shift_del c.347 p.V116fs 1.000 superfamily_WD40_repeat_dom pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 tier1 53 0 0.00 6 13 68.42 STOM 0 genome.wustl.edu 37 9 124110391 124110391 + Missense_Mutation SNP T T C TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 9 124110391 124110391 T C SNP STOM ENST00000286713 human ensembl 74_37 -1 known missense c.562 p.K188E 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOM HGNC ENSG00000148175 tier1 - - 55 0 0.00 50 24 32.43 RABGGTB 0 genome.wustl.edu 37 1 76259678 76259714 + R DEL CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT - TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 1 76259678 76259714 CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT - DEL RABGGTB ENST00000459697 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.001:0.001:0.000:0.002:0.005:0.008:0.009:0.007:0.005:0.003:0.003:0.001:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 SKIV2L 0 genome.wustl.edu 37 6 31937190 31937190 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 6 31937190 31937190 G T SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.3533 p.R1178L 1.000 pfam_DSH_C,pirsf_R_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_R_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 tier1 - - 85 0 0.00 23 16 41.03 MAGEC3 0 genome.wustl.edu 37 X 140953333 140953333 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 X 140953333 140953333 G T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.200 p.R67M 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 98 0 0.00 74 35 32.11 CDH26 0 genome.wustl.edu 37 20 58544078 58544078 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 20 58544078 58544078 G T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.126 p.K42N 0.003 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 79 0 0.00 45 4 8.16 HERC4 0 genome.wustl.edu 37 10 69832687 69832687 + Missense_Mutation SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 10 69832687 69832687 C T SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.179 p.C60Y 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 tier1 - - 93 0 0.00 42 4 8.70 VCPKMT 0 genome.wustl.edu 37 14 50579351 50579351 + Nonsense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 14 50579351 50579351 G T SNP VCPKMT ENST00000395860 human ensembl 74_37 -1 known nonsense c.657 p.Y219* 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors VCPKMT HGNC ENSG00000100483 tier1 - - 32 0 0.00 23 4 14.81 GBX2 0 genome.wustl.edu 37 2 237074887 237074887 + Silent SNP G G A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 2 237074887 237074887 G A SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known silent c.717 p.G239 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 tier1 - - 36 0 0.00 21 16 43.24 STARD9 0 genome.wustl.edu 37 15 42979512 42979512 + Missense_Mutation SNP A A T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 15 42979512 42979512 A T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.5736 p.E1912D 0.001 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 28 0 0.00 61 16 20.78 OR2B3 0 genome.wustl.edu 37 6 29054540 29054540 + Silent SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 6 29054540 29054540 C T SNP OR2B3 ENST00000377173 human ensembl 74_37 -1 known silent c.486 p.L162 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B3 HGNC ENSG00000204703 tier1 - - 21 0 0.00 10 3 23.08 RIMBP3 0 genome.wustl.edu 37 22 20458608 20458608 + Silent SNP C C A TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 22 20458608 20458608 C A SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known silent c.2694 p.P898 0.841 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 tier1 - - 171 0 0.00 180 31 14.69 TP53 0 genome.wustl.edu 37 17 7574019 7574020 + Frame_Shift_Del DEL CT CT - TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 17 7574019 7574020 CT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.1008_1007 p.E336fs 0.004:0.009 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 26 0 0.00 3 11 78.57 SRGAP1 0 genome.wustl.edu 37 12 64491140 64491140 + Missense_Mutation SNP C C G TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 12 64491140 64491140 C G SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.1798 p.L600V 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 tier1 - - 42 0 0.00 33 20 37.74 ZZEF1 0 genome.wustl.edu 37 17 4007959 4007959 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 17 4007959 4007959 G T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.1541 p.A514E 0.999 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 55 0 0.00 51 5 8.93 SLC27A4 0 genome.wustl.edu 37 9 131107639 131107639 + Silent SNP C C T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 9 131107639 131107639 C T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known silent c.367 p.L123 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 tier1 - - 78 0 0.00 57 29 33.72 ITGA9 0 genome.wustl.edu 37 3 37574815 37574815 + Missense_Mutation SNP G G T TCGA-IE-A4EI-01A-11D-A24N-09 TCGA-IE-A4EI-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 522dc834-8367-4f49-b93b-fcba91a2de7e 9f3e9eb7-1873-4f33-a9c8-671eae8cc921 3 37574815 37574815 G T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.1384 p.V462F 1.000 pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 tier1 - - 94 0 0.00 56 5 8.20