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 ABCA3 21 genome.wustl.edu 37 16 2336854 2336854 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 2336854 2336854 G C SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known missense c.3119 p.A1040G 0.856 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ABCA7 10347 genome.wustl.edu 37 19 1056231 1056231 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 1056231 1056231 G T SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.4405 p.D1469Y 0.101 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ACOT7 11332 genome.wustl.edu 37 1 6399616 6399616 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 6399616 6399616 G A SNP ACOT7 ENST00000377855 human ensembl 70_37 -1 known missense c.325 p.R109C 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors ACOT7 HGNC ADCY8 114 genome.wustl.edu 37 8 131859744 131859744 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 131859744 131859744 C G SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known missense c.2428 p.D810H 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ADCYAP1R1 117 genome.wustl.edu 37 7 31135348 31135348 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 31135348 31135348 C A SNP ADCYAP1R1 ENST00000409489 human ensembl 70_37 +1 novel missense c.1114 p.H372N 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ADPGK-AS1 100287559 genome.wustl.edu 37 15 73076271 73076271 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 73076271 73076271 C T SNP ADPGK-AS1 ENST00000563592 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ADPGK-AS1 HGNC ADRA1A 148 genome.wustl.edu 37 8 26614137 26614137 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 26614137 26614137 G A SNP ADRA1A ENST00000380581 human ensembl 70_37 -1 known missense c.1043 p.S348F 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adrene_rcpt_A1Cs,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC AIM1 202 genome.wustl.edu 37 6 107008788 107008788 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 107008788 107008788 G A SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.4742 p.R1581Q 0.959 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ALDOC 230 genome.wustl.edu 37 17 26902544 26902544 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 26902544 26902544 G C SNP ALDOC ENST00000226253 human ensembl 70_37 -1 known missense c.7 p.H3D 0.996 NULL pfam_Aldolase_I - no_errors ALDOC HGNC ALKBH1 8846 genome.wustl.edu 37 14 78142096 78142096 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 78142096 78142096 C T SNP ALKBH1 ENST00000216489 human ensembl 70_37 -1 known missense c.643 p.E215K 0.967 tigrfam_Alkb tigrfam_Alkb - no_errors ALKBH1 HGNC AMD1 262 genome.wustl.edu 37 6 111213977 111213977 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 111213977 111213977 G A SNP AMD1 ENST00000368885 human ensembl 70_37 +1 known missense c.655 p.D219N 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 AMOT 154796 genome.wustl.edu 37 X 112066006 112066006 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 112066006 112066006 G A SNP AMOT ENST00000371959 human ensembl 70_37 -1 known nonsense c.349 p.Q117* 1.000 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ANK1 286 genome.wustl.edu 37 8 41546047 41546047 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 41546047 41546047 G A SNP ANK1 ENST00000396942 human ensembl 70_37 -1 known missense c.4165 p.L1389F 0.997 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ANKRD50 57182 genome.wustl.edu 37 4 125591339 125591339 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 125591339 125591339 C G SNP ANKRD50 ENST00000504087 human ensembl 70_37 -1 known silent c.3093 p.L1031 0.987 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ANKRD62P1-PARP4P3 23783 genome.wustl.edu 37 22 17160241 17160241 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 17160241 17160241 G C SNP ANKRD62P1-PARP4P3 ENST00000338526 human ensembl 70_37 -1 known rna NULL NULL 0.110 - - - no_errors ANKRD62P1-PARP4P3 HGNC ANO9 338440 genome.wustl.edu 37 11 430149 430149 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 430149 430149 G A SNP ANO9 ENST00000332826 human ensembl 70_37 -1 known silent c.705 p.L235 0.988 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC AOC2 314 genome.wustl.edu 37 17 41001224 41001224 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 41001224 41001224 G C SNP AOC2 ENST00000253799 human ensembl 70_37 +1 known silent c.1710 p.L570 0.798 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC AR 367 genome.wustl.edu 37 X 66766450 66766450 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 66766450 66766450 C T SNP AR ENST00000374690 human ensembl 70_37 +1 known nonsense c.1462 p.Q488* 1.000 NULL pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ARFGAP2 84364 genome.wustl.edu 37 11 47187024 47187024 + RNA SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 47187024 47187024 G T SNP ARFGAP2 ENST00000395449 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARFGAP2 HGNC ARIH2 10425 genome.wustl.edu 37 3 49006070 49006070 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 49006070 49006070 C T SNP ARIH2 ENST00000356401 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ARSE 415 genome.wustl.edu 37 X 2878447 2878447 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 2878447 2878447 C T SNP ARSE ENST00000540563 human ensembl 70_37 -1 known missense c.22 p.D8N 0.001 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ASAP1 50807 genome.wustl.edu 37 8 131200418 131200418 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 131200418 131200418 C T SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known silent c.417 p.L139 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ASPSCR1 79058 genome.wustl.edu 37 17 79954696 79954696 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 79954696 79954696 C T SNP ASPSCR1 ENST00000306729 human ensembl 70_37 +1 known missense c.907 p.P303S 0.001 NULL pfam_TUG,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ATG2B 55102 genome.wustl.edu 37 14 96756851 96756851 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 96756851 96756851 C G SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.5778 p.Q1926H 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ATP8B4 79895 genome.wustl.edu 37 15 50294401 50294401 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 50294401 50294401 G C SNP ATP8B4 ENST00000284509 human ensembl 70_37 -1 known nonsense c.455 p.S152* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B4 HGNC AWAT1 158833 genome.wustl.edu 37 X 69457007 69457007 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 69457007 69457007 C T SNP AWAT1 ENST00000374521 human ensembl 70_37 +1 known silent c.369 p.F123 1.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC BAG4 9530 genome.wustl.edu 37 8 38065202 38065202 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 38065202 38065202 C T SNP BAG4 ENST00000287322 human ensembl 70_37 +1 known missense c.551 p.S184F 0.634 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC BAG6 7917 genome.wustl.edu 37 6 31607482 31607482 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 31607482 31607482 C G SNP BAG6 ENST00000464869 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors BAG6 HGNC BDP1 55814 genome.wustl.edu 37 5 70845414 70845414 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 70845414 70845414 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.6976 p.E2326K 0.184 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC BEST2 54831 genome.wustl.edu 37 19 12868588 12868588 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 12868588 12868588 G T SNP BEST2 ENST00000042931 human ensembl 70_37 +1 known silent c.1227 p.P409 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC BEST4 266675 genome.wustl.edu 37 1 45253071 45253071 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 45253071 45253071 C T SNP BEST4 ENST00000372207 human ensembl 70_37 -1 known missense c.220 p.D74N 0.986 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC BRPF3 27154 genome.wustl.edu 37 6 36179145 36179145 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 36179145 36179145 C T SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known missense c.2290 p.R764C 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC BTRC 8945 genome.wustl.edu 37 10 103190136 103190136 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 103190136 103190136 C G SNP BTRC ENST00000370187 human ensembl 70_37 +1 known missense c.83 p.S28C 1.000 NULL pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BTRC HGNC C14orf93 60686 genome.wustl.edu 37 14 23467958 23467958 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 23467958 23467958 C T SNP C14orf93 ENST00000299088 human ensembl 70_37 -1 known missense c.275 p.R92H 0.880 NULL NULL - no_errors C14orf93 HGNC C17orf70 80233 genome.wustl.edu 37 17 79514520 79514520 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 79514520 79514520 C T SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.1588 p.E530K 0.972 NULL NULL - no_errors C17orf70 HGNC C1QTNF4 114900 genome.wustl.edu 37 11 47611686 47611686 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 47611686 47611686 G A SNP C1QTNF4 ENST00000302514 human ensembl 70_37 -1 known missense c.677 p.P226L 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF4 HGNC C1orf112 55732 genome.wustl.edu 37 1 169806079 169806079 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 169806079 169806079 C T SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known silent c.1551 p.I517 1.000 NULL NULL - no_errors C1orf112 HGNC C1orf131 128061 genome.wustl.edu 37 1 231374798 231374798 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 231374798 231374798 C T SNP C1orf131 ENST00000366649 human ensembl 70_37 -1 known silent c.255 p.K85 0.993 NULL NULL - no_errors C1orf131 HGNC C1orf65 164127 genome.wustl.edu 37 1 223567621 223567621 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 223567621 223567621 G A SNP C1orf65 ENST00000366875 human ensembl 70_37 +1 known silent c.804 p.K268 0.586 NULL NULL - no_errors C1orf65 HGNC C9orf96 169436 genome.wustl.edu 37 9 136243391 136243391 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 136243391 136243391 G C SNP C9orf96 ENST00000371957 human ensembl 70_37 +1 known missense c.47 p.R16P 0.001 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors C9orf96 HGNC CACNA1B 774 genome.wustl.edu 37 9 140807659 140807659 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 140807659 140807659 C T SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known silent c.558 p.F186 0.907 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CACNA1E 777 genome.wustl.edu 37 1 181453069 181453069 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 181453069 181453069 C T SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known silent c.189 p.F63 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CACNA2D3 55799 genome.wustl.edu 37 3 54604082 54604082 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 54604082 54604082 C G SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known nonsense c.839 p.S280* 0.813 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC CADPS 8618 genome.wustl.edu 37 3 62385197 62385197 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 62385197 62385197 C G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.3946 p.E1316Q 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CAMK4 814 genome.wustl.edu 37 5 110814092 110814092 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 110814092 110814092 G C SNP CAMK4 ENST00000282356 human ensembl 70_37 +1 known missense c.715 p.E239Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK4 HGNC CAMSAP1 157922 genome.wustl.edu 37 9 138710293 138710293 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 138710293 138710293 C G SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.4162 p.E1388Q 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC CAPRIN2 65981 genome.wustl.edu 37 12 30881633 30881633 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 30881633 30881633 G A SNP CAPRIN2 ENST00000251071 human ensembl 70_37 -1 known silent c.1731 p.L577 0.685 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC CARD11 84433 genome.wustl.edu 37 7 2979475 2979475 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 2979475 2979475 C T SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.772 p.E258K 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC CBLB 868 genome.wustl.edu 37 3 105397350 105397350 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 105397350 105397350 G A SNP CBLB ENST00000264122 human ensembl 70_37 -1 known missense c.2494 p.L832F 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC CBWD1 55871 genome.wustl.edu 37 9 173313 173313 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 173313 173313 C A SNP CBWD1 ENST00000356521 human ensembl 70_37 -1 known nonsense c.295 p.E99* 1.000 pfam_CobW/HypB/UreG_dom pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC CCDC73 493860 genome.wustl.edu 37 11 32720835 32720835 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 32720835 32720835 C G SNP CCDC73 ENST00000335185 human ensembl 70_37 -1 known missense c.352 p.E118Q 1.000 NULL NULL - no_errors CCDC73 HGNC CCDC87 55231 genome.wustl.edu 37 11 66360384 66360384 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 66360384 66360384 G C SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.103 p.Q35E 0.034 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC CCDC93 54520 genome.wustl.edu 37 2 118694294 118694294 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 118694294 118694294 G T SNP CCDC93 ENST00000376300 human ensembl 70_37 -1 known missense c.1627 p.H543N 1.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC CD248 57124 genome.wustl.edu 37 11 66082697 66082697 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 66082697 66082697 G C SNP CD248 ENST00000311330 human ensembl 70_37 -1 known missense c.1802 p.S601C 0.037 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_C-type_lectin - no_errors CD248 HGNC CD79A 973 genome.wustl.edu 37 19 42381419 42381419 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 42381419 42381419 C G SNP CD79A ENST00000221972 human ensembl 70_37 +1 known missense c.45 p.I15M 0.003 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like - no_errors CD79A HGNC CD99L2 83692 genome.wustl.edu 37 X 149999752 149999752 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 149999752 149999752 C G SNP CD99L2 ENST00000370377 human ensembl 70_37 -1 known missense c.82 p.D28H 0.000 NULL pfam_CD99L2 - no_errors CD99L2 HGNC CDH2 1000 genome.wustl.edu 37 18 25565688 25565688 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 25565688 25565688 G A SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known silent c.1779 p.I593 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC CDH23 64072 genome.wustl.edu 37 10 73556641 73556642 + RNA INS - - C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 73556641 73556642 - C INS CDH23 ENST00000475158 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CDH23 HGNC CDH8 1006 genome.wustl.edu 37 16 61855002 61855002 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 61855002 61855002 G A SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known missense c.851 p.S284L 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC CEP350 9857 genome.wustl.edu 37 1 179965887 179965887 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 179965887 179965887 G A SNP CEP350 ENST00000367607 human ensembl 70_37 +1 known missense c.595 p.D199N 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC CES3 23491 genome.wustl.edu 37 16 66997226 66997226 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 66997226 66997226 C G SNP CES3 ENST00000303334 human ensembl 70_37 +1 known nonsense c.227 p.S76* 0.994 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES3 HGNC CHTF18 63922 genome.wustl.edu 37 16 839552 839552 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 839552 839552 C T SNP CHTF18 ENST00000317063 human ensembl 70_37 +1 known missense c.1034 p.S345L 0.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors CHTF18 HGNC CILP2 148113 genome.wustl.edu 37 19 19649220 19649220 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 19649220 19649220 G A SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known missense c.62 p.R21Q 1.000 NULL 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 CKAP2L 150468 genome.wustl.edu 37 2 113522197 113522197 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 113522197 113522197 C G SNP CKAP2L ENST00000461876 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors CKAP2L HGNC CLASP1 23332 genome.wustl.edu 37 2 122159170 122159170 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 122159170 122159170 G A SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2815 p.L939F 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC CNDP1 84735 genome.wustl.edu 37 18 72223680 72223680 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 72223680 72223680 C T SNP CNDP1 ENST00000358821 human ensembl 70_37 +1 known silent c.132 p.L44 0.001 pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC CNP 1267 genome.wustl.edu 37 17 40120646 40120646 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 40120646 40120646 C T SNP CNP ENST00000393892 human ensembl 70_37 +1 known silent c.564 p.L188 0.984 pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase - no_errors CNP HGNC COG1 9382 genome.wustl.edu 37 17 71193179 71193179 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 71193179 71193179 G A SNP COG1 ENST00000299886 human ensembl 70_37 +1 known missense c.701 p.R234K 1.000 NULL pfam_Vps51 - no_errors COG1 HGNC COL20A1 57642 genome.wustl.edu 37 20 61939375 61939375 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 61939375 61939375 C G SNP COL20A1 ENST00000326996 human ensembl 70_37 +1 known silent c.708 p.L236 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC COL5A1 1289 genome.wustl.edu 37 9 137642697 137642697 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 137642697 137642697 C T SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.1631 p.S544F 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC CRISPLD2 83716 genome.wustl.edu 37 16 84900605 84900605 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 84900605 84900605 G T SNP CRISPLD2 ENST00000262424 human ensembl 70_37 +1 known missense c.812 p.R271I 0.417 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC DCAF8L2 347442 genome.wustl.edu 37 X 27765143 27765143 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 27765143 27765143 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.131 p.S44L 0.008 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC DENND4C 55667 genome.wustl.edu 37 9 19300261 19300261 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 19300261 19300261 G C SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.535 p.E179Q 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC DGKZ 8525 genome.wustl.edu 37 11 46397894 46397894 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 46397894 46397894 G C SNP DGKZ ENST00000454345 human ensembl 70_37 +1 known missense c.2672 p.G891A 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC DHX9 1660 genome.wustl.edu 37 1 182812469 182812469 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 182812469 182812469 C A SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.152 p.S51Y 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC DICER1 23405 genome.wustl.edu 37 14 95556868 95556868 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 95556868 95556868 G C SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known silent c.5736 p.L1912 1.000 smart_Ds-RNA-bd,pfscan_Ds-RNA-bd 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 DNAJC3 5611 genome.wustl.edu 37 13 96439260 96439260 + Splice_Site SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 96439260 96439260 G C SNP DNAJC3 ENST00000376795 human ensembl 70_37 +1 known splice_site c.1209-1 e11-1 1.000 - - - no_errors DNAJC3 HGNC DOCK2 1794 genome.wustl.edu 37 5 169410110 169410110 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 169410110 169410110 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known silent c.2838 p.Q946 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC DQX1 165545 genome.wustl.edu 37 2 74746333 74746333 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 74746333 74746333 C A SNP DQX1 ENST00000393951 human ensembl 70_37 -1 known nonsense c.1831 p.G611* 1.000 pfam_DUF1605 pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC DUS1L 64118 genome.wustl.edu 37 17 80022092 80022092 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 80022092 80022092 C T SNP DUS1L ENST00000306796 human ensembl 70_37 -1 known missense c.256 p.E86K 0.996 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS1L HGNC DYRK1A 1859 genome.wustl.edu 37 21 38884298 38884298 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 21 38884298 38884298 G C SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.1756 p.E586Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK1A HGNC ECEL1 9427 genome.wustl.edu 37 2 233348763 233348763 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 233348763 233348763 G A SNP ECEL1 ENST00000304546 human ensembl 70_37 -1 known missense c.1355 p.A452V 0.999 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ECI2 10455 genome.wustl.edu 37 6 4117592 4117592 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 4117592 4117592 G A SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known nonsense c.979 p.Q327* 1.000 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ECM1 1893 genome.wustl.edu 37 1 150485845 150485845 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 150485845 150485845 C T SNP ECM1 ENST00000369049 human ensembl 70_37 +1 known silent c.1606 p.L536 0.933 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC EFCAB13 124989 genome.wustl.edu 37 17 45490240 45490240 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 45490240 45490240 G A SNP EFCAB13 ENST00000331493 human ensembl 70_37 +1 known missense c.2380 p.E794K 0.594 NULL NULL - no_errors EFCAB13 HGNC ELL2 22936 genome.wustl.edu 37 5 95234166 95234166 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 95234166 95234166 G C SNP ELL2 ENST00000237853 human ensembl 70_37 -1 known missense c.1303 p.L435V 0.998 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC EMC1 23065 genome.wustl.edu 37 1 19561705 19561705 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 19561705 19561705 C T SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known missense c.1351 p.E451K 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 64673 64673 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 GL000212.1 64673 64673 C T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.422 p.S141L NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000214184 0 genome.wustl.edu 37 2 109150518 109150518 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 109150518 109150518 G A SNP ENSG00000214184 ENST00000322353 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012487.2 Clone_based_vega_gene ENSG00000214546 0 genome.wustl.edu 37 17 37778472 37778472 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 37778472 37778472 G C SNP ENSG00000214546 ENST00000398554 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC087491.2 Clone_based_vega_gene ENSG00000228157 0 genome.wustl.edu 37 17 18996538 18996538 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 18996538 18996538 G C SNP ENSG00000228157 ENST00000428928 human ensembl 70_37 +1 known missense c.34 p.E12Q 0.000 NULL NULL - no_errors AC007952.5 Clone_based_vega_gene ENSG00000232274 0 genome.wustl.edu 37 1 143189135 143189135 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 143189135 143189135 C T SNP ENSG00000232274 ENST00000447389 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000235837 0 genome.wustl.edu 37 7 16737641 16737641 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 16737641 16737641 G A SNP ENSG00000235837 ENST00000418907 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC073333.8 Clone_based_vega_gene ENSG00000243636 0 genome.wustl.edu 37 1 207355982 207355982 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 207355982 207355982 G A SNP ENSG00000243636 ENST00000442684 human ensembl 70_37 +1 known rna NULL NULL 0.085 - - - no_errors RP11-164O23.7 Clone_based_vega_gene ENSG00000248540 0 genome.wustl.edu 37 15 74421382 74421382 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 74421382 74421382 C T SNP ENSG00000248540 ENST00000514871 human ensembl 70_37 -1 putative silent c.51 p.S17 0.000 NULL NULL - no_errors RP11-247C2.2 Clone_based_vega_gene ENSG00000251696 0 genome.wustl.edu 37 1 205031412 205031412 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 205031412 205031412 G A SNP ENSG00000251696 ENST00000515887 human ensembl 70_37 +1 novel rna NULL NULL 0.010 - - - no_errors AL583832.1 Clone_based_ensembl_gene ENSG00000254042 0 genome.wustl.edu 37 5 168134917 168134917 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 168134917 168134917 C G SNP ENSG00000254042 ENST00000522615 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-558O2.1 Clone_based_vega_gene ENSG00000258745 0 genome.wustl.edu 37 14 51379876 51379876 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 51379876 51379876 C T SNP ENSG00000258745 ENST00000557343 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-218E20.5 Clone_based_vega_gene ENSG00000259933 0 genome.wustl.edu 37 16 2142924 2142924 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 2142924 2142924 G A SNP ENSG00000259933 ENST00000563284 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-304L19.1 Clone_based_vega_gene ENSG00000260261 0 genome.wustl.edu 37 3 195677915 195677915 + RNA SNP A A G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 195677915 195677915 A G SNP ENSG00000260261 ENST00000570130 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors RP11-480A16.1 Clone_based_vega_gene ENSG00000269243 0 genome.wustl.edu 37 19 16243708 16243708 + RNA SNP A A T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 16243708 16243708 A T SNP ENSG00000269243 ENST00000599676 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2231E14.8 Clone_based_vega_gene EPHA2 1969 genome.wustl.edu 37 1 16460102 16460102 + Splice_Site SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 16460102 16460102 C A SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known splice_site c.1739-1 e10-1 1.000 - - - no_errors EPHA2 HGNC EPHA2 1969 genome.wustl.edu 37 1 16475389 16475389 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 16475389 16475389 G C SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.307 p.R103G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC EPHB4 2050 genome.wustl.edu 37 7 100414848 100414848 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 100414848 100414848 G A SNP EPHB4 ENST00000358173 human ensembl 70_37 -1 known silent c.1554 p.F518 0.757 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB4 HGNC EPS8L2 64787 genome.wustl.edu 37 11 709426 709426 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 709426 709426 G C SNP EPS8L2 ENST00000318562 human ensembl 70_37 +1 known missense c.19 p.V7L 0.020 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ESCO2 157570 genome.wustl.edu 37 8 27633891 27633891 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 27633891 27633891 C T SNP ESCO2 ENST00000305188 human ensembl 70_37 +1 known silent c.66 p.F22 0.089 NULL NULL - no_errors ESCO2 HGNC ESPNL 339768 genome.wustl.edu 37 2 239040199 239040199 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 239040199 239040199 C T SNP ESPNL ENST00000343063 human ensembl 70_37 +1 known silent c.2844 p.L948 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC F13A1 2162 genome.wustl.edu 37 6 6174946 6174946 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 6174946 6174946 G T SNP F13A1 ENST00000264870 human ensembl 70_37 -1 known silent c.1614 p.I538 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC FAM115C 285966 genome.wustl.edu 37 7 143400364 143400364 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 143400364 143400364 G A SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.277 p.V93M 0.000 NULL NULL - no_errors FAM115C HGNC FAM178A 55719 genome.wustl.edu 37 10 102684014 102684014 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 102684014 102684014 C G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known missense c.1256 p.S419C 0.990 NULL NULL - no_errors FAM178A HGNC FAM184A 79632 genome.wustl.edu 37 6 119344130 119344130 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 119344130 119344130 G A SNP FAM184A ENST00000338891 human ensembl 70_37 -1 known missense c.1130 p.S377L 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC FAM5B 57795 genome.wustl.edu 37 1 177250105 177250105 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 177250105 177250105 C G SNP FAM5B ENST00000361539 human ensembl 70_37 +1 known missense c.1793 p.S598C 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC FAM73B 84895 genome.wustl.edu 37 9 131832688 131832688 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131832688 131832688 G A SNP FAM73B ENST00000358369 human ensembl 70_37 +1 known missense c.1738 p.G580R 0.996 NULL pfam_DUF2217 - no_errors FAM73B HGNC FARS2 10667 genome.wustl.edu 37 6 5613479 5613479 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 5613479 5613479 C G SNP FARS2 ENST00000274680 human ensembl 70_37 +1 known missense c.1143 p.F381L 1.000 pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,tigrfam_Phe-tRNA-synth_IIc_mito pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC FAT4 79633 genome.wustl.edu 37 4 126238993 126238993 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 126238993 126238993 C G SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known nonsense c.1427 p.S476* 0.080 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBN1 2200 genome.wustl.edu 37 15 48796084 48796084 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 48796084 48796084 G C SNP FBN1 ENST00000316623 human ensembl 70_37 -1 known missense c.2013 p.I671M 0.991 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC FBN2 2201 genome.wustl.edu 37 5 127866340 127866340 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 127866340 127866340 G A SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known silent c.384 p.N128 1.000 pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FBXO5 26271 genome.wustl.edu 37 6 153304092 153304092 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 153304092 153304092 C G SNP FBXO5 ENST00000229758 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC FBXW7 55294 genome.wustl.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 153247289 153247289 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known missense c.1513 p.R505C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FLJ40194 124871 genome.wustl.edu 37 17 47329722 47329722 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 47329722 47329722 C T SNP FLJ40194 ENST00000322227 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-62O9.3 Clone_based_vega_gene FLJ42627 645644 genome.wustl.edu 37 16 2608019 2608019 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 2608019 2608019 C T SNP FLJ42627 ENST00000562485 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-20I23.8 Clone_based_vega_gene FMO2 2327 genome.wustl.edu 37 1 171165850 171165850 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 171165850 171165850 C T SNP FMO2 ENST00000209929 human ensembl 70_37 +1 known silent c.384 p.V128 0.001 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC FNDC1 84624 genome.wustl.edu 37 6 159660765 159660765 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 159660765 159660765 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.4397 p.P1466L 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC FOXA2 3170 genome.wustl.edu 37 20 22562711 22562711 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 22562711 22562711 G A SNP FOXA2 ENST00000319993 human ensembl 70_37 -1 known missense c.1169 p.S390L 1.000 pfam_Forkhead_box_C pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC FRMD6 122786 genome.wustl.edu 37 14 52194648 52194648 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 52194648 52194648 G A SNP FRMD6 ENST00000344768 human ensembl 70_37 +1 known silent c.1770 p.Q590 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC G2E3 55632 genome.wustl.edu 37 14 31061590 31061590 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 31061590 31061590 G A SNP G2E3 ENST00000206595 human ensembl 70_37 +1 known missense c.299 p.R100Q 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC GAL3ST2 64090 genome.wustl.edu 37 2 242742869 242742869 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 242742869 242742869 G A SNP GAL3ST2 ENST00000192314 human ensembl 70_37 +1 known missense c.485 p.R162Q 0.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST2 HGNC GALNT16 57452 genome.wustl.edu 37 14 69726943 69726943 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 69726943 69726943 G A SNP GALNTL1 ENST00000554317 human ensembl 70_37 +1 putative rna NULL NULL 0.082 - - - no_errors GALNTL1 HGNC GBX2 2637 genome.wustl.edu 37 2 237074658 237074658 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 237074658 237074658 C T SNP GBX2 ENST00000306318 human ensembl 70_37 -1 known missense c.946 p.E316K 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GBX2 HGNC GDF2 2658 genome.wustl.edu 37 10 48414295 48414295 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 48414295 48414295 G A SNP GDF2 ENST00000249598 human ensembl 70_37 -1 known silent c.573 p.F191 0.964 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC GH2 2689 genome.wustl.edu 37 17 61958007 61958007 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 61958007 61958007 G A SNP GH2 ENST00000332800 human ensembl 70_37 -1 known missense c.581 p.S194L 0.001 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC GJA1 2697 genome.wustl.edu 37 6 121768982 121768982 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 121768982 121768982 C T SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known missense c.989 p.S330F 1.000 prints_Connexin43 pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC GOLGA2P5 55592 genome.wustl.edu 37 12 100567160 100567160 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 100567160 100567160 C G SNP GOLGA2P5 ENST00000397112 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene GOLGA8M 653720 genome.wustl.edu 37 15 28948511 28948511 + Missense_Mutation SNP T T C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 28948511 28948511 T C SNP GOLGA8M ENST00000563027 human ensembl 70_37 -1 novel missense c.1322 p.Q441R 0.001 NULL NULL - no_errors GOLGA8M HGNC GPAA1 8733 genome.wustl.edu 37 8 145139652 145139652 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 145139652 145139652 C G SNP GPAA1 ENST00000355091 human ensembl 70_37 +1 known silent c.1038 p.L346 1.000 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC GPI 2821 genome.wustl.edu 37 19 34857702 34857702 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 34857702 34857702 C T SNP GPI ENST00000586425 human ensembl 70_37 +1 known missense c.184 p.R62C 0.891 NULL NULL - no_errors GPI HGNC GPR179 440435 genome.wustl.edu 37 17 36485791 36485791 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 36485791 36485791 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.3661 p.G1221R 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR52 9293 genome.wustl.edu 37 1 174417843 174417843 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 174417843 174417843 C T SNP GPR52 ENST00000367685 human ensembl 70_37 +1 known silent c.594 p.L198 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC GPR98 84059 genome.wustl.edu 37 5 89949139 89949139 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 89949139 89949139 G C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.3748 p.E1250Q 1.000 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 GRM1 2911 genome.wustl.edu 37 6 146678717 146678717 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 146678717 146678717 G A SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known missense c.1489 p.V497I 0.852 prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC GRXCR1 389207 genome.wustl.edu 37 4 42965086 42965086 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 42965086 42965086 C T SNP GRXCR1 ENST00000399770 human ensembl 70_37 +1 known nonsense c.562 p.R188* 0.925 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC GSS 2937 genome.wustl.edu 37 20 33533875 33533875 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 33533875 33533875 G A SNP GSS ENST00000216951 human ensembl 70_37 -1 known silent c.156 p.L52 0.981 pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_fold,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk - no_errors GSS HGNC GYS2 2998 genome.wustl.edu 37 12 21695523 21695523 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 21695523 21695523 C G SNP GYS2 ENST00000261195 human ensembl 70_37 -1 known missense c.1552 p.E518Q 1.000 pfam_Glycogen_synth,pfam_Glyco_trans_1 pfam_Glycogen_synth,pfam_Glyco_trans_1 - no_errors GYS2 HGNC HELZ2 85441 genome.wustl.edu 37 20 62195045 62195045 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 62195045 62195045 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known silent c.5130 p.F1710 0.471 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HERC4 26091 genome.wustl.edu 37 10 69682816 69682816 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 69682816 69682816 C A SNP HERC4 ENST00000395198 human ensembl 70_37 -1 known nonsense c.3046 p.E1016* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC HGD 3081 genome.wustl.edu 37 3 120389327 120389327 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 120389327 120389327 C T SNP HGD ENST00000283871 human ensembl 70_37 -1 known missense c.229 p.D77N 0.994 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC HIATL1 84641 genome.wustl.edu 37 9 97177517 97177517 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 97177517 97177517 G A SNP HIATL1 ENST00000375344 human ensembl 70_37 +1 known silent c.186 p.L62 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC HIST1H2BH 8345 genome.wustl.edu 37 6 26252218 26252218 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 26252218 26252218 G C SNP HIST1H2BH ENST00000356350 human ensembl 70_37 +1 known missense c.340 p.E114Q 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC HLA-C 3107 genome.wustl.edu 37 6 31238207 31238207 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 31238207 31238207 C T SNP HLA-C ENST00000539307 human ensembl 70_37 -1 known silent c.786 p.L262 1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC HMCN1 83872 genome.wustl.edu 37 1 186057774 186057774 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 186057774 186057774 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.9614 p.G3205E 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HSPB1 3315 genome.wustl.edu 37 7 75933350 75933350 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 75933350 75933350 G A SNP HSPB1 ENST00000248553 human ensembl 70_37 +1 known missense c.478 p.E160K 1.000 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB1 HGNC HSPB1 3315 genome.wustl.edu 37 7 75933361 75933361 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 75933361 75933361 G A SNP HSPB1 ENST00000248553 human ensembl 70_37 +1 known silent c.489 p.L163 0.998 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom - no_errors HSPB1 HGNC HTR1A 3350 genome.wustl.edu 37 5 63256510 63256510 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 63256510 63256510 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.1037 p.T346M 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC HTR4 3360 genome.wustl.edu 37 5 147889570 147889570 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 147889570 147889570 G A SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known silent c.525 p.F175 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC HUNK 30811 genome.wustl.edu 37 21 33346885 33346885 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 21 33346885 33346885 G C SNP HUNK ENST00000270112 human ensembl 70_37 +1 known silent c.1029 p.L343 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HUNK HGNC IGSF9 57549 genome.wustl.edu 37 1 159901343 159901343 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 159901343 159901343 G C SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known silent c.1413 p.L471 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC IKBKAP 8518 genome.wustl.edu 37 9 111660988 111660988 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 111660988 111660988 C G SNP IKBKAP ENST00000374647 human ensembl 70_37 -1 known missense c.2246 p.R749T 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC IMMT 10989 genome.wustl.edu 37 2 86371573 86371573 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 86371573 86371573 C G SNP IMMT ENST00000410111 human ensembl 70_37 -1 known missense c.2095 p.E699Q 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC INSRR 3645 genome.wustl.edu 37 1 156824069 156824069 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 156824069 156824069 C G SNP INSRR ENST00000368195 human ensembl 70_37 -1 known missense c.112 p.E38Q 0.963 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_Fibronectin_type3,superfamily_Growth_fac_rcpt,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 INSRR HGNC KCND3 3752 genome.wustl.edu 37 1 112525177 112525177 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 112525177 112525177 G A SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known silent c.172 p.L58 0.994 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC KCNJ16 3773 genome.wustl.edu 37 17 68128780 68128780 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 68128780 68128780 C T SNP KCNJ16 ENST00000283936 human ensembl 70_37 +1 known silent c.552 p.F184 0.986 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC KCNS3 3790 genome.wustl.edu 37 2 18113402 18113402 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 18113402 18113402 C A SNP KCNS3 ENST00000304101 human ensembl 70_37 +1 known missense c.1127 p.T376N 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC KCTD10 83892 genome.wustl.edu 37 12 109898564 109898564 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109898564 109898564 G A SNP KCTD10 ENST00000228495 human ensembl 70_37 -1 known silent c.264 p.L88 0.998 pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC KDM5B 10765 genome.wustl.edu 37 1 202702961 202702961 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 202702961 202702961 G C SNP KDM5B ENST00000367265 human ensembl 70_37 -1 known silent c.3477 p.L1159 0.999 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC KIAA0754 643314 genome.wustl.edu 37 1 39877398 39877398 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 39877398 39877398 G T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.1053 p.Q351H 0.151 NULL NULL - no_errors KIAA0754 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30315869 30315869 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 30315869 30315869 C T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.3208 p.E1070K 0.000 NULL NULL - no_errors KIAA1462 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30315873 30315873 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 30315873 30315873 C G SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.3204 p.L1068F 0.000 NULL NULL - no_errors KIAA1462 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8967125 8967125 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 8967125 8967125 C T SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.99 p.E33 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KLC3 147700 genome.wustl.edu 37 19 45851407 45851407 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 45851407 45851407 G A SNP KLC3 ENST00000470402 human ensembl 70_37 +1 known silent c.810 p.A270 0.960 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC KRAS 3845 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 70_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC KRT83 3889 genome.wustl.edu 37 12 52713041 52713041 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 52713041 52713041 G C SNP KRT83 ENST00000293670 human ensembl 70_37 -1 known missense c.492 p.I164M 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC LANCL1 10314 genome.wustl.edu 37 2 211302514 211302514 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 211302514 211302514 G A SNP LANCL1 ENST00000233714 human ensembl 70_37 -1 known missense c.773 p.S258F 0.997 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC LAS1L 81887 genome.wustl.edu 37 X 64752491 64752491 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 64752491 64752491 C T SNP LAS1L ENST00000374811 human ensembl 70_37 -1 known missense c.382 p.E128K 0.986 pfam_Las1 pfam_Las1 - no_errors LAS1L HGNC LGR5 8549 genome.wustl.edu 37 12 71972663 71972663 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 71972663 71972663 C G SNP LGR5 ENST00000266674 human ensembl 70_37 +1 known missense c.1360 p.H454D 0.999 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR5 HGNC LINC00618 145249 genome.wustl.edu 37 14 97411571 97411571 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 97411571 97411571 C T SNP LINC00618 ENST00000435624 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00618 HGNC LMBRD1 55788 genome.wustl.edu 37 6 70407490 70407490 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 70407490 70407490 G A SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known missense c.1382 p.S461F 0.320 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC LMF2 91289 genome.wustl.edu 37 22 50944111 50944111 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 50944111 50944111 G A SNP LMF2 ENST00000474879 human ensembl 70_37 -1 known missense c.908 p.T303M 0.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC LMLN 89782 genome.wustl.edu 37 3 197712736 197712736 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 197712736 197712736 G C SNP LMLN ENST00000330198 human ensembl 70_37 +1 known missense c.904 p.D302H 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC LMNB1 4001 genome.wustl.edu 37 5 126113469 126113469 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 126113469 126113469 G A SNP LMNB1 ENST00000261366 human ensembl 70_37 +1 known missense c.269 p.R90Q 1.000 pfam_F pfam_F,pfam_Lamin_tail_dom - no_errors LMNB1 HGNC LOC100287538 100287538 genome.wustl.edu 37 16 5289856 5289856 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 5289856 5289856 C G SNP LOC100287538 ENST00000569895 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-420N3.2 Clone_based_vega_gene LOC253039 253039 genome.wustl.edu 37 9 123605287 123605287 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 123605287 123605287 C T SNP LOC253039 ENST00000586907 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-27I1.2 Clone_based_vega_gene LOXHD1 125336 genome.wustl.edu 37 18 44140130 44140130 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 44140130 44140130 C T SNP LOXHD1 ENST00000536736 human ensembl 70_37 -1 known missense c.2977 p.E993K 0.440 NULL pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC LRAT 9227 genome.wustl.edu 37 4 155665567 155665567 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 155665567 155665567 C T SNP LRAT ENST00000336356 human ensembl 70_37 +1 known missense c.89 p.A30V 0.000 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC LRP1 4035 genome.wustl.edu 37 12 57592445 57592445 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 57592445 57592445 G A SNP LRP1 ENST00000243077 human ensembl 70_37 +1 known missense c.9668 p.R3223H 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC LRRC20 55222 genome.wustl.edu 37 10 72100450 72100450 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 72100450 72100450 C T SNP LRRC20 ENST00000355790 human ensembl 70_37 -1 known missense c.91 p.E31K 0.994 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC20 HGNC LRRK1 79705 genome.wustl.edu 37 15 101597256 101597256 + Splice_Site SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 101597256 101597256 G T SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known splice_site c.4527+1 e27+1 1.000 - - - no_errors LRRK1 HGNC LYAR 55646 genome.wustl.edu 37 4 4281444 4281444 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 4281444 4281444 G A SNP LYAR ENST00000343470 human ensembl 70_37 -1 known silent c.270 p.V90 1.000 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC MAP1A 4130 genome.wustl.edu 37 15 43821418 43821418 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 43821418 43821418 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.7747 p.E2583K 0.998 NULL NULL - no_errors MAP1A HGNC MAPK8IP3 23162 genome.wustl.edu 37 16 1774567 1774567 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 1774567 1774567 G C SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known missense c.328 p.E110Q 1.000 pfam_JNK/Rab-associated_protein-1_N pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC MAST1 22983 genome.wustl.edu 37 19 12978584 12978584 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 12978584 12978584 G C SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.2359 p.E787Q 0.999 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC MCF2L2 23101 genome.wustl.edu 37 3 182937697 182937697 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 182937697 182937697 C T SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known missense c.2317 p.E773K 0.962 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC MCHR2 84539 genome.wustl.edu 37 6 100391006 100391006 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 100391006 100391006 C T SNP MCHR2 ENST00000281806 human ensembl 70_37 -1 known missense c.406 p.V136I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC MDN1 23195 genome.wustl.edu 37 6 90372609 90372609 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 90372609 90372609 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.14314 p.D4772N 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MDN1 23195 genome.wustl.edu 37 6 90422436 90422436 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 90422436 90422436 G A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.7288 p.L2430F 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MEP1A 4224 genome.wustl.edu 37 6 46806754 46806754 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 46806754 46806754 C T SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.2122 p.R708C 0.991 pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC MFN2 9927 genome.wustl.edu 37 1 12049379 12049379 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 12049379 12049379 G A SNP MFN2 ENST00000235329 human ensembl 70_37 +1 known missense c.154 p.E52K 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN2 HGNC MIR219-2 407003 genome.wustl.edu 37 9 131154981 131154981 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131154981 131154981 G A SNP MIR219-2 ENST00000385220 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR219-2 HGNC KMT2D 8085 genome.wustl.edu 37 12 49430960 49430960 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 49430960 49430960 C T SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.10179 p.P3393 0.555 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151945201 151945201 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 151945201 151945201 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.2318 p.S773L 0.011 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLLT4-AS1 653483 genome.wustl.edu 37 6 168227430 168227430 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 168227430 168227430 C G SNP MLLT4-AS1 ENST00000357510 human ensembl 70_37 -1 known rna NULL NULL 0.485 - - - no_errors MLLT4-AS1 HGNC MPPE1 65258 genome.wustl.edu 37 18 11884235 11884235 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 11884235 11884235 G C SNP MPPE1 ENST00000592755 human ensembl 70_37 -1 putative rna NULL NULL 0.204 - - - no_errors MPPE1 HGNC MRFAP1 93621 genome.wustl.edu 37 4 6642923 6642923 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 6642923 6642923 G C SNP MRFAP1 ENST00000320912 human ensembl 70_37 +1 known missense c.334 p.E112Q 0.997 NULL NULL - no_errors MRFAP1 HGNC MRPS18B 28973 genome.wustl.edu 37 6 30585715 30585715 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 30585715 30585715 G A SNP MRPS18B ENST00000259873 human ensembl 70_37 +1 known missense c.73 p.V25I 0.998 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13958 13958 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 MT 13958 13958 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1622 p.G541D NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUC16 94025 genome.wustl.edu 37 19 9003293 9003293 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 9003293 9003293 C T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.40142 p.R13381K 0.984 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9014186 9014186 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 9014186 9014186 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.38462 p.S12821C 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC5B 727897 genome.wustl.edu 37 11 1265813 1265813 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 1265813 1265813 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.7712 p.S2571F 0.058 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1268629 1268629 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 1268629 1268629 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.10528 p.P3510A 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1271163 1271163 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 1271163 1271163 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.13062 p.I4354M 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYBPC2 4606 genome.wustl.edu 37 19 50940944 50940944 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 50940944 50940944 G A SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.541 p.E181K 0.998 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 MYBPC2 HGNC MYH3 4621 genome.wustl.edu 37 17 10534957 10534957 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 10534957 10534957 C T SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.5257 p.E1753K 0.999 pfam_Myosin_tail 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 MYH9 4627 genome.wustl.edu 37 22 36680288 36680288 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 36680288 36680288 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.5616 p.L1872 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYO16 23026 genome.wustl.edu 37 13 109793204 109793204 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 109793204 109793204 C G SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.4578 p.L1526 0.998 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC MYO1H 283446 genome.wustl.edu 37 12 109872885 109872885 + Nonsense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109872885 109872885 G T SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known nonsense c.2089 p.E697* 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC NAPSB 256236 genome.wustl.edu 37 19 50837329 50837329 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 50837329 50837329 C G SNP NAPSB ENST00000527780 human ensembl 70_37 -1 known rna NULL NULL 0.987 - - - no_errors NAPSB HGNC NARS 4677 genome.wustl.edu 37 18 55273952 55273952 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 55273952 55273952 G A SNP NARS ENST00000256854 human ensembl 70_37 -1 known silent c.1033 p.L345 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb - no_errors NARS HGNC NAV2 89797 genome.wustl.edu 37 11 20127225 20127225 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 20127225 20127225 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.6970 p.H2324Y 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC NFAM1 150372 genome.wustl.edu 37 22 42807594 42807594 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 42807594 42807594 C T SNP NFAM1 ENST00000329021 human ensembl 70_37 -1 known silent c.270 p.Q90 0.001 NULL pfscan_Phos_immunorcpt_sig_ITAM - no_errors NFAM1 HGNC NHS 4810 genome.wustl.edu 37 X 17745123 17745123 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 17745123 17745123 C G SNP NHS ENST00000380060 human ensembl 70_37 +1 known nonsense c.2834 p.S945* 1.000 NULL NULL - no_errors NHS HGNC NLRP8 126205 genome.wustl.edu 37 19 56459460 56459460 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 56459460 56459460 C T SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known silent c.192 p.L64 0.002 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC NOTCH4 4855 genome.wustl.edu 37 6 32163297 32163297 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 32163297 32163297 C G SNP NOTCH4 ENST00000375023 human ensembl 70_37 -1 known missense c.5929 p.E1977Q 0.449 pirsf_Notch pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC NPRL3 8131 genome.wustl.edu 37 16 167375 167375 + Splice_Site SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 167375 167375 C T SNP NPRL3 ENST00000399953 human ensembl 70_37 -1 known splice_site c.319-1 e4-1 1.000 - - - no_errors NPRL3 HGNC NRXN2 9379 genome.wustl.edu 37 11 64436066 64436066 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 64436066 64436066 G A SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known missense c.1208 p.S403L 0.990 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC NTPCR 84284 genome.wustl.edu 37 1 233112143 233112143 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 233112143 233112143 C A SNP NTPCR ENST00000366627 human ensembl 70_37 +1 known missense c.560 p.S187Y 0.003 NULL pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase - no_errors NTPCR HGNC OR10H2 26538 genome.wustl.edu 37 19 15839584 15839584 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 15839584 15839584 C G SNP OR10H2 ENST00000305899 human ensembl 70_37 +1 known missense c.731 p.S244C 0.968 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H2 HGNC OR10X1 128367 genome.wustl.edu 37 1 158548787 158548787 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 158548787 158548787 G C SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known missense c.903 p.I301M 0.540 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC OR4K17 390436 genome.wustl.edu 37 14 20586347 20586347 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 20586347 20586347 C T SNP OR4K17 ENST00000315543 human ensembl 70_37 +1 known missense c.782 p.P261L 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K17 HGNC OTOF 9381 genome.wustl.edu 37 2 26690260 26690260 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 26690260 26690260 C T SNP OTOF ENST00000272371 human ensembl 70_37 -1 known silent c.4200 p.K1400 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC OTOG 340990 genome.wustl.edu 37 11 17655674 17655674 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 17655674 17655674 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known silent c.7362 p.L2454 0.934 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC P2RY8 286530 genome.wustl.edu 37 X 1585319 1585319 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 1585319 1585319 G C SNP P2RY8 ENST00000381297 human ensembl 70_37 -1 known missense c.133 p.L45V 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors P2RY8 HGNC PANK1 53354 genome.wustl.edu 37 10 91359024 91359024 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 91359024 91359024 C G SNP PANK1 ENST00000307534 human ensembl 70_37 -1 known missense c.1295 p.R432T 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC PANX2 56666 genome.wustl.edu 37 22 50615963 50615963 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 50615963 50615963 G A SNP PANX2 ENST00000395842 human ensembl 70_37 +1 known silent c.822 p.A274 0.358 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC PARD3 56288 genome.wustl.edu 37 10 34558760 34558760 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 34558760 34558760 C G SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.3253 p.D1085H 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC PCDH9 5101 genome.wustl.edu 37 13 67800591 67800591 + Missense_Mutation SNP A A C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 67800591 67800591 A C SNP PCDH9 ENST00000377865 human ensembl 70_37 -1 known missense c.1982 p.V661G 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC PCDHA7 56141 genome.wustl.edu 37 5 140214179 140214179 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 140214179 140214179 C T SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known missense c.211 p.R71C 0.012 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC PCDHAC2 56134 genome.wustl.edu 37 5 140347477 140347477 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 140347477 140347477 G C SNP PCDHAC2 ENST00000289269 human ensembl 70_37 +1 known missense c.1126 p.E376Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC PCDHB5 26167 genome.wustl.edu 37 5 140517297 140517297 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 140517297 140517297 G A SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known missense c.2281 p.G761S 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC PDHA2 5161 genome.wustl.edu 37 4 96761857 96761857 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 96761857 96761857 G C SNP PDHA2 ENST00000295266 human ensembl 70_37 +1 known missense c.556 p.E186Q 0.182 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC PEX11A 8800 genome.wustl.edu 37 15 90233900 90233900 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 90233900 90233900 C G SNP PEX11A ENST00000557982 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PEX11A HGNC PIBF1 10464 genome.wustl.edu 37 13 73357704 73357704 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 73357704 73357704 G A SNP PIBF1 ENST00000326291 human ensembl 70_37 +1 known missense c.97 p.D33N 1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC PIGC 5279 genome.wustl.edu 37 1 172413191 172413191 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 172413191 172413191 G A SNP PIGC ENST00000484368 human ensembl 70_37 -1 known rna NULL NULL 0.965 - - - no_errors PIGC HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,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 PIK3CA HGNC PIWIL1 9271 genome.wustl.edu 37 12 130842072 130842072 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 130842072 130842072 C T SNP PIWIL1 ENST00000245255 human ensembl 70_37 +1 known nonsense c.1639 p.Q547* 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110478940 110478940 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 110478940 110478940 C T SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known silent c.8547 p.F2849 1.000 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 PKP4 8502 genome.wustl.edu 37 2 159477761 159477761 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 159477761 159477761 G A SNP PKP4 ENST00000389759 human ensembl 70_37 +1 known missense c.431 p.R144K 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC PLEKHM2 23207 genome.wustl.edu 37 1 16054080 16054080 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 16054080 16054080 G A SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known missense c.1513 p.E505K 0.998 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC PLXNB1 5364 genome.wustl.edu 37 3 48463769 48463769 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 48463769 48463769 C T SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known missense c.1390 p.E464K 0.993 superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC POLE 5426 genome.wustl.edu 37 12 133234542 133234542 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 133234542 133234542 G T SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.3323 p.A1108D 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC PPP1R1A 5502 genome.wustl.edu 37 12 54969542 54969542 + RNA SNP A A G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 54969542 54969542 A G SNP PPP1R1A ENST00000547431 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PPP1R1A HGNC PRCP 5547 genome.wustl.edu 37 11 82535964 82535964 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 82535964 82535964 G A SNP PRCP ENST00000393399 human ensembl 70_37 -1 known missense c.1538 p.A513V 0.000 NULL pfam_Peptidase_S28 - no_errors PRCP HGNC PRKD1 5587 genome.wustl.edu 37 14 30046497 30046497 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 30046497 30046497 C T SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.2686 p.E896K 0.958 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC PRPF8 10594 genome.wustl.edu 37 17 1558693 1558693 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 1558693 1558693 C T SNP PRPF8 ENST00000304992 human ensembl 70_37 -1 known missense c.5938 p.E1980K 1.000 pfam_PRP8_domainIV pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC PSMF1 9491 genome.wustl.edu 37 20 1115859 1115859 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 1115859 1115859 C T SNP PSMF1 ENST00000333082 human ensembl 70_37 +1 known missense c.461 p.P154L 0.771 NULL pfam_Inhibitor_PI31,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC PTBP2 58155 genome.wustl.edu 37 1 97236446 97236446 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 97236446 97236446 C T SNP PTBP2 ENST00000460706 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTBP2 HGNC PTCD2 79810 genome.wustl.edu 37 5 71616231 71616231 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 71616231 71616231 G C SNP PTCD2 ENST00000308077 human ensembl 70_37 +1 known missense c.22 p.A8P 0.069 NULL pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat - no_errors PTCD2 HGNC PTPRN 5798 genome.wustl.edu 37 2 220161732 220161732 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 220161732 220161732 C G SNP PTPRN ENST00000295718 human ensembl 70_37 -1 known missense c.2211 p.K737N 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC PUM1 9698 genome.wustl.edu 37 1 31406085 31406085 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 31406085 31406085 G C SNP PUM1 ENST00000426105 human ensembl 70_37 -1 known missense c.3540 p.I1180M 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC PVR 5817 genome.wustl.edu 37 19 45162162 45162162 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 45162162 45162162 C T SNP PVR ENST00000425690 human ensembl 70_37 +1 known missense c.1144 p.P382S 0.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVR HGNC PYGM 5837 genome.wustl.edu 37 11 64519472 64519472 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 64519472 64519472 G A SNP PYGM ENST00000164139 human ensembl 70_37 -1 known silent c.1692 p.F564 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC QPCTL 54814 genome.wustl.edu 37 19 46201892 46201892 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 46201892 46201892 C T SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.721 p.R241W 1.000 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC RALGAPB 57148 genome.wustl.edu 37 20 37191319 37191319 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 37191319 37191319 G A SNP RALGAPB ENST00000262879 human ensembl 70_37 +1 known missense c.3676 p.D1226N 1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC RBM25 58517 genome.wustl.edu 37 14 73563725 73563725 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 73563725 73563725 C T SNP RBM25 ENST00000261973 human ensembl 70_37 +1 known missense c.646 p.R216C 1.000 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC RBM46 166863 genome.wustl.edu 37 4 155719379 155719379 + Nonsense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 155719379 155719379 G T SNP RBM46 ENST00000281722 human ensembl 70_37 +1 known nonsense c.568 p.E190* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC RGS7 6000 genome.wustl.edu 37 1 241032132 241032132 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 241032132 241032132 C G SNP RGS7 ENST00000407727 human ensembl 70_37 -1 known missense c.471 p.Q157H 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS7 HGNC RIMS2 9699 genome.wustl.edu 37 8 104927785 104927785 + Missense_Mutation SNP A A C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 104927785 104927785 A C SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known missense c.1875 p.K625N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC RIMS2 9699 genome.wustl.edu 37 8 104933999 104933999 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 104933999 104933999 C G SNP RIMS2 ENST00000406091 human ensembl 70_37 +1 known nonsense c.2183 p.S728* 1.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC RLF 6018 genome.wustl.edu 37 1 40705543 40705543 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 40705543 40705543 C G SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.5169 p.I1723M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC RNF213 57674 genome.wustl.edu 37 17 78269550 78269550 + Nonsense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 78269550 78269550 C G SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known nonsense c.1949 p.S650* 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF213 57674 genome.wustl.edu 37 17 78269596 78269596 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 78269596 78269596 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.1995 p.I665 0.021 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RPAIN 84268 genome.wustl.edu 37 17 5329587 5329587 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 5329587 5329587 G C SNP RPAIN ENST00000405578 human ensembl 70_37 +1 known missense c.457 p.V153L 0.000 NULL NULL - no_errors RPAIN HGNC RPL28 6158 genome.wustl.edu 37 19 55898086 55898086 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 55898086 55898086 G C SNP RPL28 ENST00000431533 human ensembl 70_37 +1 known missense c.230 p.R77T 0.000 NULL NULL - no_errors RPL28 HGNC RPSAP58 388524 genome.wustl.edu 37 19 24010669 24010669 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 24010669 24010669 C T SNP RPSAP58 ENST00000354585 human ensembl 70_37 +1 known missense c.706 p.P236S 0.816 NULL pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC RYR2 6262 genome.wustl.edu 37 1 237777871 237777871 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 237777871 237777871 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.5437 p.E1813K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SACS 26278 genome.wustl.edu 37 13 23905671 23905671 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 23905671 23905671 G C SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.12344 p.S4115C 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC SAMD3 154075 genome.wustl.edu 37 6 130536361 130536361 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 130536361 130536361 C T SNP SAMD3 ENST00000368134 human ensembl 70_37 -1 known missense c.58 p.E20K 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC SAMD8 142891 genome.wustl.edu 37 10 76924411 76924411 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 76924411 76924411 G C SNP SAMD8 ENST00000372690 human ensembl 70_37 +1 known missense c.776 p.R259T 1.000 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC SARS 6301 genome.wustl.edu 37 1 109780429 109780429 + Silent SNP T T C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 109780429 109780429 T C SNP SARS ENST00000369923 human ensembl 70_37 +1 known silent c.1530 p.H510 0.239 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC SARS2 54938 genome.wustl.edu 37 19 39416865 39416865 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 39416865 39416865 C T SNP SARS2 ENST00000600042 human ensembl 70_37 -1 known missense c.343 p.E115K 0.925 pirsf_Ser-tRNA-ligase_type_1,superfamily_tRNA-bd_arm,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC SATB2 23314 genome.wustl.edu 37 2 200173588 200173588 + Silent SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 200173588 200173588 C A SNP SATB2 ENST00000260926 human ensembl 70_37 -1 known silent c.1635 p.L545 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC SCYL3 57147 genome.wustl.edu 37 1 169823722 169823722 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 169823722 169823722 G A SNP SCYL3 ENST00000367770 human ensembl 70_37 -1 known missense c.1858 p.P620S 0.003 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC SECISBP2 79048 genome.wustl.edu 37 9 91973638 91973638 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 91973638 91973638 G A SNP SECISBP2 ENST00000375807 human ensembl 70_37 +1 known missense c.2464 p.E822K 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC SETBP1 26040 genome.wustl.edu 37 18 42456540 42456540 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 42456540 42456540 C G SNP SETBP1 ENST00000426838 human ensembl 70_37 +1 known missense c.551 p.S184C 0.001 NULL NULL - no_errors SETBP1 HGNC SGPP1 81537 genome.wustl.edu 37 14 64194288 64194288 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 64194288 64194288 G T SNP SGPP1 ENST00000247225 human ensembl 70_37 -1 known missense c.375 p.N125K 0.999 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP1 HGNC SGSM1 129049 genome.wustl.edu 37 22 25289571 25289571 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 25289571 25289571 C T SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known silent c.2109 p.I703 1.000 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SH3BP1 23616 genome.wustl.edu 37 22 38046109 38046109 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 38046109 38046109 G C SNP SH3BP1 ENST00000336738 human ensembl 70_37 +1 known missense c.1333 p.E445Q 0.002 smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC SH3RF2 153769 genome.wustl.edu 37 5 145435737 145435737 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 145435737 145435737 C A SNP SH3RF2 ENST00000359120 human ensembl 70_37 +1 known missense c.1516 p.Q506K 0.990 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC SHANK3 85358 genome.wustl.edu 37 22 51113565 51113565 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 51113565 51113565 C T SNP SHANK3 ENST00000262795 human ensembl 70_37 +1 known silent c.153 p.L51 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC SIK3 23387 genome.wustl.edu 37 11 116728696 116728696 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 116728696 116728696 G C SNP SIK3 ENST00000375300 human ensembl 70_37 -1 known nonsense c.3341 p.S1114* 0.001 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK3 HGNC SKIV2L2 23517 genome.wustl.edu 37 5 54696067 54696067 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 54696067 54696067 C T SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known nonsense c.2299 p.Q767* 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC SKOR2 652991 genome.wustl.edu 37 18 44746342 44746342 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 44746342 44746342 C T SNP SKOR2 ENST00000425639 human ensembl 70_37 -1 novel missense c.2957 p.R986Q 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like,superfamily_FH2_actin-bd - no_errors SKOR2 HGNC SLC12A5 57468 genome.wustl.edu 37 20 44681732 44681732 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 44681732 44681732 C G SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known silent c.2583 p.L861 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC SLC19A3 80704 genome.wustl.edu 37 2 228552884 228552884 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 228552884 228552884 G A SNP SLC19A3 ENST00000258403 human ensembl 70_37 -1 known nonsense c.1312 p.Q438* 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC SLC24A2 25769 genome.wustl.edu 37 9 19786828 19786828 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 19786828 19786828 C T SNP SLC24A2 ENST00000341998 human ensembl 70_37 -1 known missense c.37 p.E13K 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC SLC25A28 81894 genome.wustl.edu 37 10 101370574 101370574 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 101370574 101370574 C T SNP SLC25A28 ENST00000497217 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC25A28 HGNC SLC27A4 10999 genome.wustl.edu 37 9 131105558 131105558 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131105558 131105558 C G SNP SLC27A4 ENST00000300456 human ensembl 70_37 +1 known missense c.147 p.I49M 0.355 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC SLC44A2 57153 genome.wustl.edu 37 19 10742318 10742318 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 10742318 10742318 C T SNP SLC44A2 ENST00000335757 human ensembl 70_37 +1 known silent c.519 p.F173 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A2 HGNC SLC4A10 57282 genome.wustl.edu 37 2 162661046 162661046 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 162661046 162661046 G A SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.218 p.R73K 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC SMIM7 79086 genome.wustl.edu 37 19 16758009 16758009 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 16758009 16758009 G C SNP SMIM7 ENST00000397349 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SMIM7 HGNC SNORD115-12 100033449 genome.wustl.edu 37 15 25436571 25436571 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 25436571 25436571 G C SNP SNORD115-12 ENST00000362583 human ensembl 70_37 +1 known rna NULL NULL 0.876 - - - no_errors SNORD115-12 HGNC SOCS5 9655 genome.wustl.edu 37 2 46985885 46985885 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 46985885 46985885 G A SNP SOCS5 ENST00000306503 human ensembl 70_37 +1 known silent c.216 p.S72 0.622 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC SOX7 83595 genome.wustl.edu 37 8 10583602 10583602 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 10583602 10583602 C A SNP SOX7 ENST00000553390 human ensembl 70_37 -1 known missense c.969 p.M323I 0.997 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily - no_errors SOX7 HGNC SPNS2 124976 genome.wustl.edu 37 17 4436614 4436614 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 4436614 4436614 C T SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known missense c.1165 p.R389C 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC SPOCK1 6695 genome.wustl.edu 37 5 136315127 136315127 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 136315127 136315127 G A SNP SPOCK1 ENST00000282223 human ensembl 70_37 -1 known silent c.1023 p.G341 0.997 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC SREBF1 6720 genome.wustl.edu 37 17 17716720 17716720 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 17716720 17716720 C T SNP SREBF1 ENST00000355815 human ensembl 70_37 -1 known missense c.3266 p.R1089H 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF1 HGNC SREK1 140890 genome.wustl.edu 37 5 65465899 65465899 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 65465899 65465899 C T SNP SREK1 ENST00000334121 human ensembl 70_37 +1 known missense c.1022 p.S341L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC SRM 6723 genome.wustl.edu 37 1 11116762 11116762 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 11116762 11116762 G A SNP SRM ENST00000376957 human ensembl 70_37 -1 known missense c.434 p.S145F 1.000 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase - no_errors SRM HGNC SSH2 85464 genome.wustl.edu 37 17 28022510 28022510 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 28022510 28022510 G A SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.243 p.F81 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ST3GAL6 10402 genome.wustl.edu 37 3 98475282 98475282 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 98475282 98475282 C T SNP ST3GAL6 ENST00000465004 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ST3GAL6 HGNC STAB1 23166 genome.wustl.edu 37 3 52538552 52538552 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 52538552 52538552 C G SNP STAB1 ENST00000321725 human ensembl 70_37 +1 known missense c.1226 p.S409C 0.218 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC STAB2 55576 genome.wustl.edu 37 12 104140424 104140424 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 104140424 104140424 G A SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known silent c.6186 p.K2062 0.981 smart_EGF_laminin,smart_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC STAG1 10274 genome.wustl.edu 37 3 136305745 136305745 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 136305745 136305745 G C SNP STAG1 ENST00000487065 human ensembl 70_37 -1 known missense c.321 p.H107Q 0.000 NULL NULL - no_errors STAG1 HGNC STARD13 90627 genome.wustl.edu 37 13 33703335 33703335 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 13 33703335 33703335 G C SNP STARD13 ENST00000336934 human ensembl 70_37 -1 known silent c.1479 p.V493 0.995 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD13 HGNC STAT3 6774 genome.wustl.edu 37 17 40467764 40467764 + Nonstop_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 40467764 40467764 C G SNP STAT3 ENST00000264657 human ensembl 70_37 -1 known nonstop c.2312 p.*771S 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC STK39 27347 genome.wustl.edu 37 2 169023878 169023878 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 169023878 169023878 C A SNP STK39 ENST00000355999 human ensembl 70_37 -1 known missense c.361 p.V121L 0.977 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC SYNE2 23224 genome.wustl.edu 37 14 64532300 64532300 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 14 64532300 64532300 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.10363 p.E3455Q 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC TADA2A 6871 genome.wustl.edu 37 17 35822181 35822181 + Splice_Site SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 35822181 35822181 G C SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known splice_site c.669-1 e9-1 1.000 - - - no_errors TADA2A HGNC TAF6L 10629 genome.wustl.edu 37 11 62554156 62554156 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 62554156 62554156 C T SNP TAF6L ENST00000294168 human ensembl 70_37 +1 known silent c.1257 p.L419 0.095 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC TBL1X 6907 genome.wustl.edu 37 X 9673058 9673058 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 9673058 9673058 G C SNP TBL1X ENST00000217964 human ensembl 70_37 +1 known missense c.1140 p.Q380H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC TBL1XR1 79718 genome.wustl.edu 37 3 176755911 176755911 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 176755911 176755911 G A SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.1097 p.S366F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC TCEA3 6920 genome.wustl.edu 37 1 23724052 23724052 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 23724052 23724052 G C SNP TCEA3 ENST00000450454 human ensembl 70_37 -1 known nonsense c.650 p.S217* 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA3 HGNC TCF21 6943 genome.wustl.edu 37 6 134212874 134212874 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 134212874 134212874 G T SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known silent c.474 p.G158 0.982 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC TCF4 6925 genome.wustl.edu 37 18 52899837 52899837 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 52899837 52899837 C T SNP TCF4 ENST00000398339 human ensembl 70_37 -1 known missense c.1858 p.E620K 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF4 HGNC TCF7L2 6934 genome.wustl.edu 37 10 114710681 114710681 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 114710681 114710681 C G SNP TCF7L2 ENST00000355995 human ensembl 70_37 +1 known missense c.166 p.Q56E 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC TCP1 6950 genome.wustl.edu 37 6 160210613 160210613 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 160210613 160210613 G A SNP TCP1 ENST00000543532 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TCP1 HGNC TECPR1 25851 genome.wustl.edu 37 7 97857364 97857364 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 97857364 97857364 C T SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known silent c.2478 p.E826 1.000 smart_Peroxin/Ferlin pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC TENM3 55714 genome.wustl.edu 37 4 183721066 183721066 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 4 183721066 183721066 G A SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known silent c.7662 p.T2554 0.998 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TFE3 7030 genome.wustl.edu 37 X 48887123 48887123 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 48887123 48887123 C G SNP TFE3 ENST00000478476 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors TFE3 HGNC THOP1 7064 genome.wustl.edu 37 19 2794766 2794766 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 2794766 2794766 G C SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.234 p.Q78H 1.000 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC TIGD3 220359 genome.wustl.edu 37 11 65124381 65124381 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 11 65124381 65124381 G A SNP TIGD3 ENST00000309880 human ensembl 70_37 +1 known missense c.1102 p.G368S 0.058 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC TMC6 11322 genome.wustl.edu 37 17 76116778 76116778 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 76116778 76116778 G A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1671 p.F557 0.856 pfam_TMC pfam_TMC - no_errors TMC6 HGNC TMEM161B 153396 genome.wustl.edu 37 5 87564617 87564617 + RNA SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 87564617 87564617 G C SNP TMEM161B ENST00000503194 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors TMEM161B HGNC TNFAIP6 7130 genome.wustl.edu 37 2 152226605 152226605 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 152226605 152226605 G A SNP TNFAIP6 ENST00000243347 human ensembl 70_37 +1 known missense c.466 p.E156K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC TOP2B 7155 genome.wustl.edu 37 3 25666254 25666254 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 25666254 25666254 G C SNP TOP2B ENST00000264331 human ensembl 70_37 -1 known missense c.2265 p.F755L 0.946 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo - no_errors TOP2B HGNC TP53 7157 genome.wustl.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 7577085 7577085 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.853 p.E285K 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TRA2A 29896 genome.wustl.edu 37 7 23561455 23561455 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 23561455 23561455 G A SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known missense c.41 p.S14F 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC TREML2 79865 genome.wustl.edu 37 6 41165887 41165887 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 41165887 41165887 G A SNP TREML2 ENST00000483722 human ensembl 70_37 -1 known silent c.336 p.I112 0.041 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors TREML2 HGNC TRIP10 9322 genome.wustl.edu 37 19 6743520 6743520 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 6743520 6743520 G C SNP TRIP10 ENST00000313244 human ensembl 70_37 +1 known missense c.424 p.E142Q 1.000 NULL pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors TRIP10 HGNC TRO 7216 genome.wustl.edu 37 X 54955746 54955746 + Silent SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 54955746 54955746 C G SNP TRO ENST00000173898 human ensembl 70_37 +1 known silent c.2589 p.L863 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC TSPAN31 6302 genome.wustl.edu 37 12 58140209 58140209 + RNA SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 58140209 58140209 G A SNP TSPAN31 ENST00000550528 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors TSPAN31 HGNC TSPYL5 85453 genome.wustl.edu 37 8 98289400 98289400 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 98289400 98289400 G A SNP TSPYL5 ENST00000322128 human ensembl 70_37 -1 known missense c.673 p.R225W 0.678 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC TTC28 23331 genome.wustl.edu 37 22 28378302 28378302 + Silent SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 22 28378302 28378302 G T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel silent c.7353 p.P2451 0.008 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC TTL 150465 genome.wustl.edu 37 2 113251762 113251762 + Missense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 113251762 113251762 G T SNP TTL ENST00000233336 human ensembl 70_37 +1 known missense c.279 p.W93C 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTL HGNC TTN 7273 genome.wustl.edu 37 2 179408347 179408347 + Nonsense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 179408347 179408347 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.88649 p.S29550* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 TUBA1B 10376 genome.wustl.edu 37 12 49522590 49522590 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 49522590 49522590 G A SNP TUBA1B ENST00000336023 human ensembl 70_37 -1 known silent c.507 p.F169 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC UACA 55075 genome.wustl.edu 37 15 70960493 70960493 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 15 70960493 70960493 G A SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.2530 p.L844F 0.971 superfamily_Prefoldin pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UBE2QL1 134111 genome.wustl.edu 37 5 6449072 6449072 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 6449072 6449072 G C SNP UBE2QL1 ENST00000399816 human ensembl 70_37 +1 known missense c.66 p.E22D 0.996 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2QL1 HGNC UBE3B 89910 genome.wustl.edu 37 12 109947443 109947443 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109947443 109947443 C T SNP UBE3B ENST00000342494 human ensembl 70_37 +1 known silent c.1665 p.F555 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC UBE3B 89910 genome.wustl.edu 37 12 109947445 109947445 + Missense_Mutation SNP A A T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 12 109947445 109947445 A T SNP UBE3B ENST00000342494 human ensembl 70_37 +1 known missense c.1667 p.K556I 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC UHMK1 127933 genome.wustl.edu 37 1 162469974 162469974 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 162469974 162469974 G A SNP UHMK1 ENST00000489294 human ensembl 70_37 +1 known nonsense c.498 p.W166* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom - no_errors UHMK1 HGNC USP17L2 377630 genome.wustl.edu 37 8 11995989 11995990 + Frame_Shift_Ins INS - - A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 11995989 11995990 - A INS USP17L2 ENST00000333796 human ensembl 70_37 -1 known frame_shift_ins c.281_280 p.S94fs 0.963:0.934 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19 - no_errors USP17L2 HGNC USP29 57663 genome.wustl.edu 37 19 57640514 57640514 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 57640514 57640514 G C SNP USP29 ENST00000254181 human ensembl 70_37 +1 known silent c.471 p.V157 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC USP51 158880 genome.wustl.edu 37 X 55513291 55513291 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 55513291 55513291 G C SNP USP51 ENST00000500968 human ensembl 70_37 -1 known silent c.2082 p.L694 0.997 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC VAC14 55697 genome.wustl.edu 37 16 70834762 70834762 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 70834762 70834762 G A SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known silent c.42 p.I14 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC VAX1 11023 genome.wustl.edu 37 10 118891763 118891763 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 118891763 118891763 G C SNP VAX1 ENST00000277905 human ensembl 70_37 -1 known missense c.518 p.S173C 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VAX1 HGNC VCAN 1462 genome.wustl.edu 37 5 82836731 82836731 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 82836731 82836731 G C SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.7909 p.E2637Q 0.278 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VIT 5212 genome.wustl.edu 37 2 36986225 36986225 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 36986225 36986225 G C SNP VIT ENST00000457137 human ensembl 70_37 +1 known missense c.523 p.E175Q 0.034 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors VIT HGNC VN1R4 317703 genome.wustl.edu 37 19 53770598 53770598 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 53770598 53770598 G A SNP VN1R4 ENST00000311170 human ensembl 70_37 -1 known silent c.321 p.I107 0.191 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC VPS13D 55187 genome.wustl.edu 37 1 12359381 12359381 + Silent SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 12359381 12359381 G A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known silent c.6156 p.L2052 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC VRK3 51231 genome.wustl.edu 37 19 50498170 50498170 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 50498170 50498170 C T SNP VRK3 ENST00000596121 human ensembl 70_37 -1 known missense c.619 p.G207S 1.000 NULL NULL - no_errors VRK3 HGNC WAC 51322 genome.wustl.edu 37 10 28827295 28827295 + Silent SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 28827295 28827295 G C SNP WAC ENST00000424883 human ensembl 70_37 +1 known silent c.243 p.L81 0.023 NULL NULL - no_errors WAC HGNC WDR35 57539 genome.wustl.edu 37 2 20113420 20113420 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 2 20113420 20113420 C A SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known nonsense c.3445 p.E1149* 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC WTAP 9589 genome.wustl.edu 37 6 160169397 160169397 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 6 160169397 160169397 G C SNP WTAP ENST00000358372 human ensembl 70_37 +1 known missense c.448 p.D150H 1.000 NULL NULL - no_errors WTAP HGNC YTHDF3 253943 genome.wustl.edu 37 8 64122915 64122915 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 8 64122915 64122915 C T SNP YTHDF3 ENST00000517371 human ensembl 70_37 +1 known rna NULL NULL 0.995 - - - no_errors YTHDF3 HGNC ZACN 353174 genome.wustl.edu 37 17 74078000 74078000 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 74078000 74078000 C T SNP ZACN ENST00000334586 human ensembl 70_37 +1 known silent c.918 p.L306 0.234 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ZACN 353174 genome.wustl.edu 37 17 74078118 74078118 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 17 74078118 74078118 C T SNP ZACN ENST00000334586 human ensembl 70_37 +1 known missense c.1036 p.H346Y 0.000 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ZC3H12A 80149 genome.wustl.edu 37 1 37941335 37941335 + Missense_Mutation SNP A A G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 37941335 37941335 A G SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.238 p.T80A 0.984 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ZDHHC12 84885 genome.wustl.edu 37 9 131486254 131486254 + Missense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 131486254 131486254 C A SNP ZDHHC12 ENST00000372667 human ensembl 70_37 -1 known missense c.119 p.R40L 0.493 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC12 HGNC ZBTB14 7541 genome.wustl.edu 37 18 5291062 5291062 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 5291062 5291062 C T SNP ZFP161 ENST00000357006 human ensembl 70_37 -1 known missense c.1145 p.R382K 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 ZFP161 HGNC ZMYM3 9203 genome.wustl.edu 37 X 70470478 70470478 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 X 70470478 70470478 G A SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known missense c.883 p.R295C 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ZNF236 7776 genome.wustl.edu 37 18 74587576 74587576 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 74587576 74587576 C T SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known nonsense c.790 p.Q264* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF236 7776 genome.wustl.edu 37 18 74649142 74649142 + Nonsense_Mutation SNP C C A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 74649142 74649142 C A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known nonsense c.4619 p.S1540* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF341 84905 genome.wustl.edu 37 20 32358057 32358057 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 32358057 32358057 C T SNP ZNF341 ENST00000375200 human ensembl 70_37 +1 known silent c.1581 p.L527 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ZNF445 353274 genome.wustl.edu 37 3 44488964 44488964 + Missense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 3 44488964 44488964 C T SNP ZNF445 ENST00000396077 human ensembl 70_37 -1 known missense c.2199 p.M733I 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ZNF493 284443 genome.wustl.edu 37 19 21606431 21606431 + Nonsense_Mutation SNP G G T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 21606431 21606431 G T SNP ZNF493 ENST00000355504 human ensembl 70_37 +1 known nonsense c.586 p.E196* 0.094 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ZNF516 9658 genome.wustl.edu 37 18 74154300 74154300 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 18 74154300 74154300 C G SNP ZNF516 ENST00000443185 human ensembl 70_37 -1 known missense c.711 p.E237D 0.980 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ZNF544 27300 genome.wustl.edu 37 19 58773505 58773505 + Missense_Mutation SNP G G C TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 19 58773505 58773505 G C SNP ZNF544 ENST00000269829 human ensembl 70_37 +1 known missense c.1533 p.Q511H 0.001 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 ZNF544 HGNC ZNF658 26149 genome.wustl.edu 37 9 40774728 40774728 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 9 40774728 40774728 G A SNP ZNF658 ENST00000377626 human ensembl 70_37 -1 known missense c.547 p.H183Y 0.005 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 ZNF658 HGNC ZNF720 124411 genome.wustl.edu 37 16 31724683 31724683 + RNA SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 31724683 31724683 C G SNP ZNF720 ENST00000531864 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors ZNF720 HGNC ZNF815P 401303 genome.wustl.edu 37 7 5887178 5887178 + RNA SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 7 5887178 5887178 C T SNP ZNF815P ENST00000422825 human ensembl 70_37 +1 known rna NULL NULL 0.980 - - - no_errors ZNF815P HGNC ZNF821 55565 genome.wustl.edu 37 16 71898131 71898131 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 16 71898131 71898131 C G SNP ZNF821 ENST00000425432 human ensembl 70_37 -1 known missense c.327 p.L109F 0.942 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ZNF831 128611 genome.wustl.edu 37 20 57768903 57768903 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 57768903 57768903 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel silent c.2829 p.L943 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ZNF831 128611 genome.wustl.edu 37 20 57768913 57768913 + Nonsense_Mutation SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 57768913 57768913 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel nonsense c.2839 p.Q947* 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ZNF831 128611 genome.wustl.edu 37 20 57768971 57768971 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 20 57768971 57768971 C G SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel missense c.2897 p.S966C 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ZNF879 345462 genome.wustl.edu 37 5 178460428 178460428 + Silent SNP C C T TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 5 178460428 178460428 C T SNP ZNF879 ENST00000444149 human ensembl 70_37 +1 known silent c.1479 p.F493 1.000 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 ZNF879 HGNC ZSWIM8 23053 genome.wustl.edu 37 10 75558858 75558858 + Nonsense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 10 75558858 75558858 G A SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known nonsense c.4275 p.W1425* 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ZYG11A 440590 genome.wustl.edu 37 1 53352634 53352634 + Missense_Mutation SNP C C G TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 78621820-2b45-4adf-b5dc-fc093a302208 f42b0b3e-1c17-467f-8083-e09417c6c424 1 53352634 53352634 C G SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.2013 p.F671L 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11A HGNC