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 ABCG8 64241 genome.wustl.edu 37 2 44101013 44101013 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 44101013 44101013 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.1299 p.F433 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105420220 105420220 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 105420220 105420220 G A SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.1568 p.A523V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AMBRA1 55626 genome.wustl.edu 37 11 46430214 46430214 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 46430214 46430214 C T SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known silent c.3252 p.L1084 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC AMD1 262 genome.wustl.edu 37 6 111211525 111211525 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 111211525 111211525 G T SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.393 p.Q131H 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC AOX2P 344454 genome.wustl.edu 37 2 201607053 201607053 + RNA SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 201607053 201607053 C T SNP AOX2P ENST00000472376 human ensembl 70_37 +1 known rna NULL NULL 0.688 - - - no_errors AOX2P HGNC APLP2 334 genome.wustl.edu 37 11 130005463 130005463 + Missense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 130005463 130005463 C A SNP APLP2 ENST00000263574 human ensembl 70_37 +1 known missense c.1690 p.L564I 0.979 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100745979 100745979 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 100745979 100745979 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative silent c.2403 p.L801 0.128 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ASXL1 171023 genome.wustl.edu 37 20 31024506 31024506 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 20 31024506 31024506 C T SNP ASXL1 ENST00000375687 human ensembl 70_37 +1 known missense c.3991 p.P1331S 0.996 NULL NULL - no_errors ASXL1 HGNC C1orf85 112770 genome.wustl.edu 37 1 156264186 156264186 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 156264186 156264186 C T SNP C1orf85 ENST00000362007 human ensembl 70_37 -1 known silent c.549 p.R183 0.054 NULL NULL - no_errors C1orf85 HGNC C6orf70 55780 genome.wustl.edu 37 6 170176052 170176052 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 170176052 170176052 G A SNP C6orf70 ENST00000366773 human ensembl 70_37 +1 known missense c.1411 p.E471K 0.583 NULL NULL - no_errors C6orf70 HGNC CNR2 1269 genome.wustl.edu 37 1 24201626 24201626 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 24201626 24201626 G A SNP CNR2 ENST00000374472 human ensembl 70_37 -1 known missense c.482 p.S161L 0.756 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR2 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16956946 16956946 + RNA SNP C C G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 16956946 16956946 C G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.035 - - - no_errors CROCCP2 HGNC CTSW 1521 genome.wustl.edu 37 11 65650281 65650281 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 65650281 65650281 C T SNP CTSW ENST00000307886 human ensembl 70_37 +1 known silent c.651 p.F217 0.818 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC CXCR2P1 3580 genome.wustl.edu 37 2 218925822 218925822 + RNA SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 218925822 218925822 G C SNP CXCR2P1 ENST00000439871 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CXCR2P1 HGNC CXorf57 55086 genome.wustl.edu 37 X 105905424 105905424 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 105905424 105905424 G A SNP CXorf57 ENST00000372548 human ensembl 70_37 +1 known missense c.2158 p.D720N 0.066 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC DEGS2 123099 genome.wustl.edu 37 14 100615443 100615443 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 100615443 100615443 G A SNP DEGS2 ENST00000305631 human ensembl 70_37 -1 known silent c.687 p.F229 0.994 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC DICER1 23405 genome.wustl.edu 37 14 95574781 95574781 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 95574781 95574781 C T SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known silent c.2316 p.V772 1.000 NULL pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC DMRT1 1761 genome.wustl.edu 37 9 916849 916849 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 916849 916849 C T SNP DMRT1 ENST00000382276 human ensembl 70_37 +1 known silent c.909 p.S303 0.066 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000222408 0 genome.wustl.edu 37 9 90359854 90359854 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 90359854 90359854 G A SNP ENSG00000222408 ENST00000410476 human ensembl 70_37 -1 novel rna NULL NULL 0.172 - - - no_errors AL160279.1 Clone_based_ensembl_gene ENSG00000235118 0 genome.wustl.edu 37 2 207513559 207513560 + RNA INS - - AT TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 207513559 207513560 - AT INS ENSG00000235118 ENST00000441223 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AC010731.4 Clone_based_vega_gene ENSG00000235330 0 genome.wustl.edu 37 9 478095 478095 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 478095 478095 G A SNP ENSG00000235330 ENST00000598100 human ensembl 70_37 +1 known rna NULL NULL 0.987 - - - no_errors RP11-165F24.2 Clone_based_vega_gene ENSG00000235381 0 genome.wustl.edu 37 6 155575538 155575539 + RNA INS - - C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 155575538 155575539 - C INS ENSG00000235381 ENST00000435295 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102299805 102299805 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 15 102299805 102299805 G A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.710 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene FAM162B 221303 genome.wustl.edu 37 6 117083213 117083213 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 117083213 117083213 C T SNP FAM162B ENST00000368557 human ensembl 70_37 -1 known missense c.317 p.R106Q 0.991 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC FAM47A 158724 genome.wustl.edu 37 X 34149765 34149765 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 34149765 34149765 G A SNP FAM47A ENST00000346193 human ensembl 70_37 -1 known silent c.631 p.L211 0.001 NULL NULL - no_errors FAM47A HGNC FBRS 64319 genome.wustl.edu 37 16 30680445 30680445 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 30680445 30680445 C T SNP FBRS ENST00000356166 human ensembl 70_37 +1 known missense c.2422 p.R808W 0.998 NULL prints_AUTS2 - no_errors FBRS HGNC FCGBP 8857 genome.wustl.edu 37 19 40382452 40382452 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 19 40382452 40382452 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.10434 p.A3478 0.003 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FEN1 2237 genome.wustl.edu 37 11 61563301 61563301 + Silent SNP C C G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 61563301 61563301 C G SNP FEN1 ENST00000305885 human ensembl 70_37 +1 known silent c.468 p.P156 1.000 pfam_XPG/RAD2_endonuclease,smart_XPG/RAD2_endonuclease,prints_XPGC_Rad_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors FEN1 HGNC FMO5 2330 genome.wustl.edu 37 1 146672991 146672991 + Missense_Mutation SNP T T A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 146672991 146672991 T A SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known missense c.926 p.E309V 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC FOLH1 2346 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 70_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC FRG2B 441581 genome.wustl.edu 37 10 135439803 135439803 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 10 135439803 135439803 C T SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.186 p.S62 0.213 NULL NULL - no_errors FRG2B HGNC GBAP1 2630 genome.wustl.edu 37 1 155185426 155185426 + RNA SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 155185426 155185426 G C SNP GBAP1 ENST00000368374 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GBAP1 HGNC COLGALT2 23127 genome.wustl.edu 37 1 183947545 183947545 + Nonsense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 183947545 183947545 C A SNP GLT25D2 ENST00000361927 human ensembl 70_37 -1 known nonsense c.373 p.E125* 0.496 NULL pfam_Glyco_trans_25 - no_errors GLT25D2 HGNC GNAT3 346562 genome.wustl.edu 37 7 80103615 80103615 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 80103615 80103615 G A SNP GNAT3 ENST00000398291 human ensembl 70_37 -1 known missense c.542 p.T181M 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT3 HGNC GPR139 124274 genome.wustl.edu 37 16 20043656 20043656 + Missense_Mutation SNP T T C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 20043656 20043656 T C SNP GPR139 ENST00000570682 human ensembl 70_37 -1 known missense c.463 p.T155A 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR139 HGNC GUCY1A2 2977 genome.wustl.edu 37 11 106856836 106856836 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 106856836 106856836 G A SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known missense c.325 p.L109F 1.000 NULL pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC HDHD1 8226 genome.wustl.edu 37 X 6995415 6995415 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 6995415 6995415 G A SNP HDHD1 ENST00000424830 human ensembl 70_37 -1 known missense c.425 p.S142L 0.413 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3 - no_errors HDHD1 HGNC HFM1 164045 genome.wustl.edu 37 1 91859873 91859873 + Nonsense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 91859873 91859873 G A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known nonsense c.271 p.Q91* 0.303 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HMGB1P5 10354 genome.wustl.edu 37 3 22424366 22424366 + RNA SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 22424366 22424366 G T SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC IFNG 3458 genome.wustl.edu 37 12 68553365 68553365 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 12 68553365 68553365 G C SNP IFNG ENST00000229135 human ensembl 70_37 -1 known missense c.31 p.Q11E 0.715 pirsf_Interferon_gamma pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma - no_errors IFNG HGNC KCNT2 343450 genome.wustl.edu 37 1 196295846 196295846 + Splice_Site SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 196295846 196295846 C T SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known splice_site c.2276+1 e19+1 1.000 - - - no_errors KCNT2 HGNC KHDC1 80759 genome.wustl.edu 37 6 73951257 73951257 + Missense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 73951257 73951257 G A SNP KHDC1 ENST00000257765 human ensembl 70_37 -1 known missense c.490 p.P164S 0.000 NULL NULL - no_errors KHDC1 HGNC KIF4A 24137 genome.wustl.edu 37 X 69615617 69615617 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 69615617 69615617 G T SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.2329 p.D777Y 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC KIFC3 3801 genome.wustl.edu 37 16 57795349 57795349 + Silent SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 57795349 57795349 C A SNP KIFC3 ENST00000379655 human ensembl 70_37 -1 known silent c.1848 p.V616 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC KSR2 283455 genome.wustl.edu 37 12 118298123 118298123 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 12 118298123 118298123 G A SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.294 p.I98 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC LAMC2 3918 genome.wustl.edu 37 1 183177044 183177044 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 183177044 183177044 G C SNP LAMC2 ENST00000264144 human ensembl 70_37 +1 known missense c.108 p.Q36H 0.996 pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC LONP2 83752 genome.wustl.edu 37 16 48385539 48385539 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 16 48385539 48385539 G A SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known silent c.2385 p.L795 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC LONRF1 91694 genome.wustl.edu 37 8 12594605 12594605 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 8 12594605 12594605 G T SNP LONRF1 ENST00000398246 human ensembl 70_37 -1 known missense c.1158 p.S386R 0.992 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC MAML2 84441 genome.wustl.edu 37 11 95826265 95826265 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 95826265 95826265 G A SNP MAML2 ENST00000440572 human ensembl 70_37 -1 known silent c.930 p.F310 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC NKX2-2 4821 genome.wustl.edu 37 20 21492910 21492910 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 20 21492910 21492910 C T SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known missense c.473 p.R158H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC NSDHL 50814 genome.wustl.edu 37 X 152018902 152018902 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 152018902 152018902 G C SNP NSDHL ENST00000370274 human ensembl 70_37 +1 known missense c.202 p.D68H 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC OR2G2 81470 genome.wustl.edu 37 1 247752483 247752483 + Silent SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 247752483 247752483 C A SNP OR2G2 ENST00000320065 human ensembl 70_37 +1 known silent c.822 p.G274 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140165938 140165938 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 5 140165938 140165938 C T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known silent c.63 p.L21 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PIK3CG 5294 genome.wustl.edu 37 7 106508173 106508173 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 106508173 106508173 C T SNP PIK3CG ENST00000359195 human ensembl 70_37 +1 known missense c.167 p.T56M 0.380 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC PKD2L1 9033 genome.wustl.edu 37 10 102051081 102051081 + Nonsense_Mutation SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 10 102051081 102051081 G A SNP PKD2L1 ENST00000318222 human ensembl 70_37 -1 known nonsense c.1984 p.R662* 0.876 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51732836 51732836 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 51732836 51732836 G T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.7558 p.H2520N 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PKHD1 5314 genome.wustl.edu 37 6 51799070 51799070 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 6 51799070 51799070 C T SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known missense c.5959 p.A1987T 0.076 pfam_G8_domain pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC PLXNA2 5362 genome.wustl.edu 37 1 208199993 208199994 + RNA INS - - TC TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 208199993 208199994 - TC INS PLXNA2 ENST00000483048 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PLXNA2 HGNC POLM 27434 genome.wustl.edu 37 7 44113615 44113615 + Frame_Shift_Del DEL G G - TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 44113615 44113615 G - DEL POLM ENST00000242248 human ensembl 70_37 -1 known frame_shift_del c.1081 p.L361fs 0.999 smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC POU6F2 11281 genome.wustl.edu 37 7 39472873 39472873 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 39472873 39472873 C T SNP POU6F2 ENST00000403058 human ensembl 70_37 +1 known silent c.1224 p.P408 0.991 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC RBM25 58517 genome.wustl.edu 37 14 73572954 73572954 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 14 73572954 73572954 G T SNP RBM25 ENST00000261973 human ensembl 70_37 +1 known missense c.1428 p.E476D 0.997 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC SCARF1 8578 genome.wustl.edu 37 17 1543025 1543025 + Missense_Mutation SNP G G C TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 17 1543025 1543025 G C SNP SCARF1 ENST00000263071 human ensembl 70_37 -1 known missense c.1151 p.S384C 0.999 superfamily_Growth_fac_rcpt,smart_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC SERPINB11 89778 genome.wustl.edu 37 18 61390407 61390407 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 18 61390407 61390407 C T SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.428 p.S143F 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC SFMBT1 51460 genome.wustl.edu 37 3 53003241 53003241 + RNA SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 53003241 53003241 G A SNP SFMBT1 ENST00000470575 human ensembl 70_37 -1 known rna NULL NULL 0.335 - - - no_errors SFMBT1 HGNC SFTPC 6440 genome.wustl.edu 37 8 22021029 22021029 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 8 22021029 22021029 G T SNP SFTPC ENST00000318561 human ensembl 70_37 +1 known missense c.405 p.E135D 0.980 pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC SFTPC 6440 genome.wustl.edu 37 8 22021506 22021506 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 8 22021506 22021506 C T SNP SFTPC ENST00000318561 human ensembl 70_37 +1 known silent c.546 p.G182 0.843 pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC SLC22A10 387775 genome.wustl.edu 37 11 63072233 63072233 + Silent SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 63072233 63072233 G T SNP SLC22A10 ENST00000332793 human ensembl 70_37 +1 known silent c.1470 p.T490 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454533 84454533 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 13 84454533 84454533 C T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1110 p.L370 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK3 22865 genome.wustl.edu 37 3 164906468 164906468 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 164906468 164906468 G A SNP SLITRK3 ENST00000241274 human ensembl 70_37 -1 known silent c.2151 p.G717 0.570 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC SPTBN2 6712 genome.wustl.edu 37 11 66472250 66472250 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 11 66472250 66472250 G T SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known missense c.2497 p.H833N 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC SRPX 8406 genome.wustl.edu 37 X 38031228 38031228 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 38031228 38031228 C T SNP SRPX ENST00000378533 human ensembl 70_37 -1 known silent c.432 p.E144 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC TBX22 50945 genome.wustl.edu 37 X 79279576 79279576 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 79279576 79279576 C T SNP TBX22 ENST00000373294 human ensembl 70_37 +1 known missense c.371 p.S124F 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC TESC 54997 genome.wustl.edu 37 12 117479757 117479757 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 12 117479757 117479757 G T SNP TESC ENST00000392545 human ensembl 70_37 -1 known missense c.721 p.L241M 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors TESC HGNC TLN1 7094 genome.wustl.edu 37 9 35713251 35713251 + Silent SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 35713251 35713251 C T SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known silent c.3294 p.V1098 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC TNRC18 84629 genome.wustl.edu 37 7 5360020 5360020 + Missense_Mutation SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 7 5360020 5360020 G T SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.6674 p.P2225Q 0.999 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC TOPAZ1 375337 genome.wustl.edu 37 3 44285827 44285827 + Missense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 3 44285827 44285827 C A SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.1829 p.S610Y 0.920 NULL NULL - no_errors TOPAZ1 HGNC TP73 7161 genome.wustl.edu 37 1 3639969 3639969 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 1 3639969 3639969 C T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known missense c.668 p.S223L 0.369 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TRIM37 4591 genome.wustl.edu 37 17 57106026 57106026 + Silent SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 17 57106026 57106026 G T SNP TRIM37 ENST00000262294 human ensembl 70_37 -1 known silent c.2007 p.P669 0.997 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC TRPM1 4308 genome.wustl.edu 37 15 31295003 31295003 + Silent SNP G G A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 15 31295003 31295003 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known silent c.3951 p.N1317 0.024 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TRPM6 140803 genome.wustl.edu 37 9 77378029 77378029 + Missense_Mutation SNP C C A TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 9 77378029 77378029 C A SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.3558 p.Q1186H 0.915 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC TTC30A 92104 genome.wustl.edu 37 2 178483126 178483126 + Missense_Mutation SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 2 178483126 178483126 C T SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.304 p.A102T 0.897 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC USP6NL 9712 genome.wustl.edu 37 10 11567450 11567450 + Missense_Mutation SNP C C G TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 10 11567450 11567450 C G SNP USP6NL ENST00000277575 human ensembl 70_37 -1 known missense c.141 p.E47D 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC WDR13 64743 genome.wustl.edu 37 X 48462649 48462649 + RNA SNP C C T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27dabab2-d65a-41c4-995a-f2c9b7adf441 64058b60-93c9-418c-823e-77e4bcde4034 X 48462649 48462649 C T SNP WDR13 ENST00000492873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR13 HGNC