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 AKAP13 11214 genome.wustl.edu 37 15 86123232 86123232 + Nonsense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 86123232 86123232 C T SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known nonsense c.1933 p.Q645* 0.030 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AOX2P 344454 genome.wustl.edu 37 2 201619758 201619759 + RNA DEL TG TG - TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 201619758 201619759 TG - DEL AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AOX2P HGNC ARHGEF5 7984 genome.wustl.edu 37 7 144060304 144060304 + Missense_Mutation SNP G G C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 7 144060304 144060304 G C SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.542 p.R181T 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC BCL6B 255877 genome.wustl.edu 37 17 6930847 6930847 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 6930847 6930847 G A SNP BCL6B ENST00000293805 human ensembl 70_37 +1 known missense c.1349 p.R450Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC BPIFC 254240 genome.wustl.edu 37 22 32853350 32853350 + Silent SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 22 32853350 32853350 G T SNP BPIFC ENST00000300399 human ensembl 70_37 -1 known silent c.24 p.V8 0.048 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC CASP8 841 genome.wustl.edu 37 2 202149755 202149755 + Missense_Mutation SNP T T G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 202149755 202149755 T G SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.1196 p.F399C 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CBFA2T2 9139 genome.wustl.edu 37 20 32211658 32211658 + Missense_Mutation SNP C C A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 20 32211658 32211658 C A SNP CBFA2T2 ENST00000397798 human ensembl 70_37 +1 known missense c.712 p.P238T 0.004 NULL pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO - no_errors CBFA2T2 HGNC DLG3 1741 genome.wustl.edu 37 X 69670051 69670051 + Missense_Mutation SNP A A C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 69670051 69670051 A C SNP DLG3 ENST00000194900 human ensembl 70_37 +1 known missense c.790 p.N264H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG3 HGNC ENSG00000255404 0 genome.wustl.edu 37 11 65563649 65563649 + RNA SNP T T A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 11 65563649 65563649 T A SNP ENSG00000255404 ENST00000531155 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-770G2.5 Clone_based_vega_gene GAS7 8522 genome.wustl.edu 37 17 9939844 9939844 + RNA SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 9939844 9939844 G A SNP GAS7 ENST00000578655 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GAS7 HGNC GMDS 2762 genome.wustl.edu 37 6 2116041 2116041 + Silent SNP T T A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 6 2116041 2116041 T A SNP GMDS ENST00000380815 human ensembl 70_37 -1 known silent c.309 p.T103 0.013 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC GTF3C1 2975 genome.wustl.edu 37 16 27472852 27472852 + Missense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 16 27472852 27472852 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.6149 p.R2050H 0.007 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC HS3ST3A1 9955 genome.wustl.edu 37 17 13504142 13504142 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 13504142 13504142 G T SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known missense c.305 p.P102H 0.001 NULL pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC HSPA5 3309 genome.wustl.edu 37 9 128001705 128001705 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 9 128001705 128001705 G A SNP HSPA5 ENST00000324460 human ensembl 70_37 -1 known silent c.600 p.N200 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC INSR 3643 genome.wustl.edu 37 19 7172413 7172413 + Missense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 7172413 7172413 C T SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.1156 p.G386S 1.000 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC KRT1 3848 genome.wustl.edu 37 12 53069220 53069220 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 12 53069220 53069220 G A SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known silent c.1692 p.G564 0.375 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC MARS2 92935 genome.wustl.edu 37 2 198571412 198571412 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 198571412 198571412 G A SNP MARS2 ENST00000282276 human ensembl 70_37 +1 known missense c.1283 p.C428Y 0.990 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC MMP16 4325 genome.wustl.edu 37 8 89053808 89053808 + Missense_Mutation SNP T T G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 8 89053808 89053808 T G SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known missense c.1705 p.I569L 1.000 pfam_Pept_M10A_metallopeptidase_C pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC MYH3 4621 genome.wustl.edu 37 17 10547729 10547729 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 17 10547729 10547729 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.1349 p.T450M 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC NLGN4X 57502 genome.wustl.edu 37 X 6069278 6069278 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 6069278 6069278 G T SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.230 p.P77H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NXF4 55999 genome.wustl.edu 37 X 101821927 101821927 + RNA SNP G G C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 101821927 101821927 G C SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors NXF4 HGNC OR13C8 138802 genome.wustl.edu 37 9 107331533 107331533 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 9 107331533 107331533 G A SNP OR13C8 ENST00000335040 human ensembl 70_37 +1 known missense c.85 p.V29I 0.995 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C8 HGNC PDE2A 5138 genome.wustl.edu 37 11 72308582 72308582 + Missense_Mutation SNP C C A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 11 72308582 72308582 C A SNP PDE2A ENST00000485058 human ensembl 70_37 -1 known missense c.437 p.W146L 0.974 NULL NULL - no_errors PDE2A HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110417308 110417308 + Missense_Mutation SNP A A T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 8 110417308 110417308 A T SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.1618 p.N540Y 0.055 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PPP2R5B 5526 genome.wustl.edu 37 11 64693304 64693304 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 11 64693304 64693304 G A SNP PPP2R5B ENST00000164133 human ensembl 70_37 +1 known missense c.98 p.R33H 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC PROB1 389333 genome.wustl.edu 37 5 138727752 138727752 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 5 138727752 138727752 G T SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known missense c.3019 p.P1007T 0.002 NULL NULL - no_errors PROB1 HGNC PTGDS 5730 genome.wustl.edu 37 9 139874618 139874618 + RNA SNP T T A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 9 139874618 139874618 T A SNP PTGDS ENST00000462514 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTGDS HGNC RHOV 171177 genome.wustl.edu 37 15 41165482 41165482 + Missense_Mutation SNP C C A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 41165482 41165482 C A SNP RHOV ENST00000220507 human ensembl 70_37 -1 known missense c.485 p.R162L 1.000 pfam_Small_GTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOV HGNC RLTPR 146206 genome.wustl.edu 37 16 67685598 67685598 + Missense_Mutation SNP A A G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 16 67685598 67685598 A G SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.2438 p.Q813R 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC SEMA6D 80031 genome.wustl.edu 37 15 48058809 48058809 + Missense_Mutation SNP A A C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 48058809 48058809 A C SNP SEMA6D ENST00000389432 human ensembl 70_37 +1 known missense c.1682 p.H561P 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC SERPINI1 5274 genome.wustl.edu 37 3 167508283 167508283 + Missense_Mutation SNP T T G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 3 167508283 167508283 T G SNP SERPINI1 ENST00000295777 human ensembl 70_37 +1 known missense c.374 p.L125W 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC SHROOM2 357 genome.wustl.edu 37 X 9864525 9864525 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 9864525 9864525 G T SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.2577 p.E859D 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC SHROOM2 357 genome.wustl.edu 37 X 9864526 9864526 + Missense_Mutation SNP A A G TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 9864526 9864526 A G SNP SHROOM2 ENST00000380913 human ensembl 70_37 +1 known missense c.2578 p.K860E 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC SPACA1 81833 genome.wustl.edu 37 6 88767424 88767424 + Silent SNP T T C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 6 88767424 88767424 T C SNP SPACA1 ENST00000237201 human ensembl 70_37 +1 known silent c.360 p.D120 0.985 NULL NULL - no_errors SPACA1 HGNC STAG2 10735 genome.wustl.edu 37 X 123195682 123195682 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 X 123195682 123195682 G A SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known silent c.1596 p.A532 0.963 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC TJP1 7082 genome.wustl.edu 37 15 30025009 30025009 + Missense_Mutation SNP G G T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 15 30025009 30025009 G T SNP TJP1 ENST00000346128 human ensembl 70_37 -1 known missense c.1747 p.L583I 0.976 superfamily_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC TRIP12 9320 genome.wustl.edu 37 2 230660005 230660006 + Frame_Shift_Ins INS - - C TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 2 230660005 230660006 - C INS TRIP12 ENST00000283943 human ensembl 70_37 -1 known frame_shift_ins c.3633_3632 p.N1212fs 0.976:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TSHZ3 57616 genome.wustl.edu 37 19 31770279 31770279 + Silent SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 31770279 31770279 C T SNP TSHZ3 ENST00000240587 human ensembl 70_37 -1 known silent c.420 p.Q140 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC UBR2 23304 genome.wustl.edu 37 6 42626564 42626565 + Splice_Site INS - - A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 6 42626564 42626565 - A INS UBR2 ENST00000372899 human ensembl 70_37 +1 known splice_site_ins c.3242+2_3242+1 e29+2 1.000:0.490 - - - no_errors UBR2 HGNC VSIG10L 147645 genome.wustl.edu 37 19 51837453 51837453 + Missense_Mutation SNP C C T TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 51837453 51837453 C T SNP VSIG10L ENST00000335624 human ensembl 70_37 -1 novel missense c.2411 p.R804H 0.015 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG10L HGNC WNT7B 7477 genome.wustl.edu 37 22 46319122 46319122 + Nonsense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 22 46319122 46319122 G A SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known nonsense c.664 p.R222* 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC XYLT1 64131 genome.wustl.edu 37 16 17353101 17353101 + Silent SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 16 17353101 17353101 G A SNP XYLT1 ENST00000261381 human ensembl 70_37 -1 known silent c.657 p.P219 0.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ZNF442 79973 genome.wustl.edu 37 19 12461054 12461054 + Nonsense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 12461054 12461054 G A SNP ZNF442 ENST00000242804 human ensembl 70_37 -1 known nonsense c.1345 p.R449* 0.001 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 ZNF442 HGNC ZNF529 57711 genome.wustl.edu 37 19 37039059 37039059 + Missense_Mutation SNP G G A TCGA-DS-A7WI-01A-12D-A351-09 TCGA-DS-A7WI-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4167b53e-960b-412e-b556-4fe236a9c990 e8d9f25c-40cd-4e8c-943b-5f44a8284476 19 37039059 37039059 G A SNP ZNF529 ENST00000591340 human ensembl 70_37 -1 known missense c.401 p.P134L 0.071 NULL 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 ZNF529 HGNC