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 ASNSD1 54529 genome.wustl.edu 37 2 190531908 190531910 + In_Frame_Del DEL TCT TCT - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 190531908 190531910 TCT - DEL ASNSD1 ENST00000260952 human ensembl 70_37 +1 known in_frame_del c.1050_1052 p.L352in_frame_del 1.000:1.000:1.000 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ATP13A5 344905 genome.wustl.edu 37 3 193096463 193096463 + Nonsense_Mutation SNP C C A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 3 193096463 193096463 C A SNP ATP13A5 ENST00000342358 human ensembl 70_37 -1 known nonsense c.52 p.E18* 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC BRD3 8019 genome.wustl.edu 37 9 136913301 136913301 + Silent SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 9 136913301 136913301 G A SNP BRD3 ENST00000303407 human ensembl 70_37 -1 known silent c.990 p.Y330 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC BTBD1 53339 genome.wustl.edu 37 15 83718834 83718834 + Missense_Mutation SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 15 83718834 83718834 T C SNP BTBD1 ENST00000261721 human ensembl 70_37 -1 known missense c.655 p.I219V 1.000 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC CALM3 808 genome.wustl.edu 37 19 47112431 47112431 + RNA SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 47112431 47112431 G A SNP CALM3 ENST00000477244 human ensembl 70_37 +1 known rna NULL NULL 0.793 - - - no_errors CALM3 HGNC CILP2 148113 genome.wustl.edu 37 19 19654947 19654947 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 19654947 19654947 C T SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known silent c.1593 p.F531 0.988 superfamily_Carb-bd-like_fold pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC CSMD1 64478 genome.wustl.edu 37 8 3047499 3047499 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 8 3047499 3047499 G A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.5336 p.A1779V 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CTIF 9811 genome.wustl.edu 37 18 46066203 46066203 + Splice_Site SNP G G T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 18 46066203 46066203 G T SNP CTIF ENST00000382998 human ensembl 70_37 +1 known splice_site c.1+1 e0+1 0.999 - - - no_errors CTIF HGNC PBDC1 51260 genome.wustl.edu 37 X 75397718 75397718 + Missense_Mutation SNP A A G TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 X 75397718 75397718 A G SNP CXorf26 ENST00000373358 human ensembl 70_37 +1 known missense c.677 p.N226S 0.000 NULL pfam_Put_polysacc_synth - no_errors CXorf26 HGNC DBC1 0 genome.wustl.edu 37 9 122011392 122011392 + Silent SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 9 122011392 122011392 G A SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known silent c.255 p.I85 0.905 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC DLG1 1739 genome.wustl.edu 37 3 196876613 196876613 + Splice_Site SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 3 196876613 196876613 C T SNP DLG1 ENST00000346964 human ensembl 70_37 -1 known splice_site c.636+1 e6+1 1.000 - - - no_errors DLG1 HGNC DNAH11 8701 genome.wustl.edu 37 7 21742379 21742379 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 7 21742379 21742379 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.6253 p.G2085R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000214432 0 genome.wustl.edu 37 15 91578166 91578166 + RNA SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 15 91578166 91578166 C T SNP ENSG00000214432 ENST00000557804 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC068831.10 Clone_based_vega_gene FAM178B 51252 genome.wustl.edu 37 2 97637863 97637863 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 97637863 97637863 C T SNP FAM178B ENST00000417561 human ensembl 70_37 -1 known silent c.783 p.P261 0.589 NULL NULL - no_errors FAM178B HGNC FAM5B 57795 genome.wustl.edu 37 1 177250921 177250921 + RNA SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 177250921 177250921 G A SNP FAM5B ENST00000478325 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors FAM5B HGNC FAM5C 339479 genome.wustl.edu 37 1 190233994 190233994 + Splice_Site SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 190233994 190233994 C T SNP FAM5C ENST00000367462 human ensembl 70_37 -1 known splice_site c.618+1 e3+1 1.000 - - - no_errors FAM5C HGNC GPR98 84059 genome.wustl.edu 37 5 90445962 90445962 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 5 90445962 90445962 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.18548 p.T6183M 0.996 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC HERC2 8924 genome.wustl.edu 37 15 28443555 28443555 + Silent SNP A A T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 15 28443555 28443555 A T SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.7980 p.S2660 0.834 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HS6ST1 9394 genome.wustl.edu 37 2 129075877 129075877 + Missense_Mutation SNP G G T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 129075877 129075877 G T SNP HS6ST1 ENST00000259241 human ensembl 70_37 -1 known missense c.261 p.D87E 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201177598 201177598 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 201177598 201177598 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.3577 p.A1193T 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IL6ST 3572 genome.wustl.edu 37 5 55264184 55264184 + Silent SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 5 55264184 55264184 G A SNP IL6ST ENST00000336909 human ensembl 70_37 -1 known silent c.411 p.N137 0.457 pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC KIAA2018 205717 genome.wustl.edu 37 3 113376116 113376116 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 3 113376116 113376116 C T SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known silent c.4413 p.Q1471 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC KIF1A 547 genome.wustl.edu 37 2 241700168 241700168 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 241700168 241700168 C T SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known silent c.2358 p.T786 0.776 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC LRRC1 55227 genome.wustl.edu 37 6 53784278 53784278 + RNA SNP A A T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 53784278 53784278 A T SNP LRRC1 ENST00000490222 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRRC1 HGNC MIR520D 574482 genome.wustl.edu 37 19 54223419 54223419 + RNA SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 54223419 54223419 G A SNP MIR520D ENST00000385002 human ensembl 70_37 +1 known rna NULL NULL 0.251 - - - no_errors MIR520D HGNC MYB 4602 genome.wustl.edu 37 6 135539519 135539519 + RNA DEL C C - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 135539519 135539519 C - DEL MYB ENST00000531845 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYB HGNC NPIPB7 440350 genome.wustl.edu 37 16 28481749 28481749 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 16 28481749 28481749 C T SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.11 p.R4H 0.010 NULL pfam_NPIP - no_errors NPIPL1 HGNC OR2G3 81469 genome.wustl.edu 37 1 247768978 247768978 + Missense_Mutation SNP G G C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 247768978 247768978 G C SNP OR2G3 ENST00000320002 human ensembl 70_37 +1 known missense c.91 p.V31L 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC PABPC3 5042 genome.wustl.edu 37 13 25671667 25671667 + Missense_Mutation SNP A A T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 13 25671667 25671667 A T SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.1331 p.K444M 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC PCDHB18 54660 genome.wustl.edu 37 5 140615760 140615760 + RNA SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 5 140615760 140615760 T C SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.326 - - - no_errors PCDHB18 HGNC RAD51AP1 10635 genome.wustl.edu 37 12 4668038 4668038 + Missense_Mutation SNP G G A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 12 4668038 4668038 G A SNP RAD51AP1 ENST00000228843 human ensembl 70_37 +1 known missense c.938 p.S313N 0.884 NULL NULL - no_errors RAD51AP1 HGNC RALGAPA1 253959 genome.wustl.edu 37 14 36008548 36008549 + RNA INS - - A TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 14 36008548 36008549 - A INS RALGAPA1 ENST00000556106 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors RALGAPA1 HGNC RARG 5916 genome.wustl.edu 37 12 53605639 53605639 + Missense_Mutation SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 12 53605639 53605639 T C SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.1186 p.R396G 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC REV3L 5980 genome.wustl.edu 37 6 111620606 111620608 + RNA DEL AAA AAA - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 111620606 111620608 AAA - DEL REV3L ENST00000462119 human ensembl 70_37 -1 known rna NULL NULL 0.997:1.000:1.000 - - - no_errors REV3L HGNC RUNX2 860 genome.wustl.edu 37 6 45480078 45480079 + Frame_Shift_Ins INS - - C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 6 45480078 45480079 - C INS RUNX2 ENST00000352853 human ensembl 70_37 +1 known frame_shift_ins c.1159_1160 p.L389fs 1.000:1.000 NULL pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC S100A4 6275 genome.wustl.edu 37 1 153516163 153516163 + RNA DEL A A - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 153516163 153516163 A - DEL S100A4 ENST00000468373 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors S100A4 HGNC SLAMF6 114836 genome.wustl.edu 37 1 160466129 160466129 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 160466129 160466129 C T SNP SLAMF6 ENST00000368057 human ensembl 70_37 -1 known missense c.104 p.G35E 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors SLAMF6 HGNC SNTB1 6641 genome.wustl.edu 37 8 121583520 121583520 + RNA SNP G G T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 8 121583520 121583520 G T SNP SNTB1 ENST00000519177 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNTB1 HGNC SPHKAP 80309 genome.wustl.edu 37 2 228883398 228883398 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 228883398 228883398 C T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.2172 p.M724I 0.989 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC TPO 7173 genome.wustl.edu 37 2 1491726 1491726 + Silent SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 1491726 1491726 C T SNP TPO ENST00000329066 human ensembl 70_37 +1 known silent c.1731 p.S577 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC TRIP10 9322 genome.wustl.edu 37 19 6750600 6750600 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 6750600 6750600 C T SNP TRIP10 ENST00000313244 human ensembl 70_37 +1 known missense c.1613 p.P538L 0.186 superfamily_SH3_domain pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors TRIP10 HGNC TSC2 7249 genome.wustl.edu 37 16 2121565 2121565 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 16 2121565 2121565 C T SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.1894 p.P632S 1.000 pfam_Tuberin-type_domain pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TTC39A 22996 genome.wustl.edu 37 1 51767913 51767913 + Frame_Shift_Del DEL C C - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 51767913 51767913 C - DEL TTC39A ENST00000262676 human ensembl 70_37 -1 known frame_shift_del c.1103 p.G368fs 0.000 NULL pfam_OMP_IML2_mit/TPR_39 - no_errors TTC39A HGNC TTN 7273 genome.wustl.edu 37 2 179659227 179659227 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 2 179659227 179659227 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.1297 p.V433I 0.999 pfam_Titin_Z,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TXNIP 10628 genome.wustl.edu 37 1 145440399 145440402 + Frame_Shift_Del DEL ATCA ATCA - TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 ATCA ATCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 145440399 145440402 ATCA - DEL TXNIP ENST00000369317 human ensembl 70_37 +1 known frame_shift_del c.705_708 p.V237fs 0.699:0.919:0.919:0.052 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC ZNF45 7596 genome.wustl.edu 37 19 44418081 44418081 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 44418081 44418081 C T SNP ZNF45 ENST00000269973 human ensembl 70_37 -1 known missense c.1507 p.E503K 0.023 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 ZNF45 HGNC ZNF648 127665 genome.wustl.edu 37 1 182025942 182025942 + Missense_Mutation SNP C C T TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 1 182025942 182025942 C T SNP ZNF648 ENST00000339948 human ensembl 70_37 -1 known missense c.1204 p.A402T 0.336 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ZNF814 730051 genome.wustl.edu 37 19 58385873 58385873 + Silent SNP T T C TCGA-DS-A3LQ-01A-21D-A21Q-09 TCGA-DS-A3LQ-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e2b50946-df37-45fb-b26c-236b264da1fc be684ac0-dfad-48b1-a133-e2e5873099b4 19 58385873 58385873 T C SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.885 p.K295 0.002 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 ZNF814 HGNC