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 ABCC12 94160 genome.wustl.edu 37 16 48139110 48139110 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 48139110 48139110 G A SNP ABCC12 ENST00000311303 human ensembl 70_37 -1 known silent c.2613 p.F871 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC12 HGNC ACPL2 92370 genome.wustl.edu 37 3 141011697 141011697 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 141011697 141011697 G A SNP ACPL2 ENST00000286353 human ensembl 70_37 +1 known missense c.1093 p.E365K 0.018 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC APEX2 27301 genome.wustl.edu 37 X 55028832 55028832 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 55028832 55028832 G T SNP APEX2 ENST00000374987 human ensembl 70_37 +1 known missense c.390 p.E130D 0.998 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC ARFGEF2 10564 genome.wustl.edu 37 20 47570311 47570311 + Missense_Mutation SNP A A T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 47570311 47570311 A T SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.822 p.R274S 0.001 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARHGAP24 83478 genome.wustl.edu 37 4 86844842 86844842 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 86844842 86844842 C T SNP ARHGAP24 ENST00000395184 human ensembl 70_37 +1 known missense c.310 p.L104F 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC BAI2 576 genome.wustl.edu 37 1 32198739 32198739 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 32198739 32198739 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.3458 p.S1153L 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC C10orf112 340895 genome.wustl.edu 37 10 19676517 19676517 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 19676517 19676517 G T SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known missense c.2390 p.S797I 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC CCDC11 220136 genome.wustl.edu 37 18 47753821 47753821 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 18 47753821 47753821 G T SNP CCDC11 ENST00000398545 human ensembl 70_37 -1 known missense c.1475 p.S492Y 0.000 NULL NULL - no_errors CCDC11 HGNC CCDC80 151887 genome.wustl.edu 37 3 112358468 112358468 + Silent SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 112358468 112358468 C A SNP CCDC80 ENST00000206423 human ensembl 70_37 -1 known silent c.285 p.S95 0.001 NULL NULL - no_errors CCDC80 HGNC CD22 933 genome.wustl.edu 37 19 35837090 35837090 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 35837090 35837090 G A SNP CD22 ENST00000544992 human ensembl 70_37 +1 novel missense c.2245 p.G749R 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC CDH1 999 genome.wustl.edu 37 16 68868700 68868700 + RNA SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 68868700 68868700 G T SNP CDH1 ENST00000563198 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDH1 HGNC CDYL 9425 genome.wustl.edu 37 6 4773344 4773344 + RNA SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 4773344 4773344 G C SNP CDYL ENST00000483019 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CDYL HGNC CGB7 94027 genome.wustl.edu 37 19 49557662 49557662 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 49557662 49557662 C A SNP CGB7 ENST00000377280 human ensembl 70_37 -1 known missense c.384 p.L128F 0.731 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC CNTN5 53942 genome.wustl.edu 37 11 100126641 100126641 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 100126641 100126641 G A SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known missense c.2155 p.V719I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN5 HGNC COL19A1 1310 genome.wustl.edu 37 6 70894806 70894806 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 70894806 70894806 G T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.2855 p.R952L 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC COL4A3BP 10087 genome.wustl.edu 37 5 74722305 74722306 + Splice_Site INS - - A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 74722305 74722306 - A INS COL4A3BP ENST00000380494 human ensembl 70_37 -1 known splice_site_ins c.733-3_733-2 e5-2 1.000:0.996 - - - no_errors COL4A3BP HGNC CSMD2 114784 genome.wustl.edu 37 1 34112290 34112290 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 34112290 34112290 C T SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known missense c.4732 p.D1578N 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC DAP3 7818 genome.wustl.edu 37 1 155697372 155697372 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 155697372 155697372 G A SNP DAP3 ENST00000466384 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC DDX43 55510 genome.wustl.edu 37 6 74117275 74117275 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 74117275 74117275 C A SNP DDX43 ENST00000370336 human ensembl 70_37 +1 known missense c.974 p.T325N 0.879 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC DDX46 9879 genome.wustl.edu 37 5 134120125 134120125 + Missense_Mutation SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 134120125 134120125 G C SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known missense c.1236 p.L412F 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC DENND5A 23258 genome.wustl.edu 37 11 9182287 9182287 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 9182287 9182287 G T SNP DENND5A ENST00000328194 human ensembl 70_37 -1 known silent c.2409 p.I803 0.976 pfam_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC DIEXF 27042 genome.wustl.edu 37 1 210016849 210016849 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 210016849 210016849 C A SNP DIEXF ENST00000491415 human ensembl 70_37 +1 known missense c.1835 p.S612Y 1.000 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC DMD 1756 genome.wustl.edu 37 X 32632545 32632545 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 32632545 32632545 G T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.1357 p.Q453K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH6 1768 genome.wustl.edu 37 2 84880959 84880959 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 84880959 84880959 G T SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.5595 p.E1865D 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DOCK2 1794 genome.wustl.edu 37 5 169143268 169143268 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 169143268 169143268 C A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.1993 p.Q665K 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 DYNC1H1 1778 genome.wustl.edu 37 14 102476247 102476247 + Silent SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 102476247 102476247 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known silent c.6045 p.F2015 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102476369 102476369 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 102476369 102476369 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.6167 p.S2056L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000185044 0 genome.wustl.edu 37 1 143465137 143465137 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 143465137 143465137 G A SNP ENSG00000185044 ENST00000419027 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors BX004987.4 Clone_based_vega_gene ENSG00000225721 0 genome.wustl.edu 37 1 45241245 45241246 + RNA DEL TC TC - TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 45241245 45241246 TC - DEL ENSG00000225721 ENST00000428791 human ensembl 70_37 -1 known rna NULL NULL 0.981:1.000 - - - no_errors RP11-269F19.2 Clone_based_vega_gene ENSG00000230393 0 genome.wustl.edu 37 2 100721880 100721880 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 100721880 100721880 G A SNP ENSG00000230393 ENST00000434301 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC092667.2 Clone_based_vega_gene ENSG00000238039 0 genome.wustl.edu 37 X 148607378 148607378 + RNA SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 148607378 148607378 C T SNP ENSG00000238039 ENST00000370438 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors AF011889.2 Clone_based_vega_gene ENSG00000263624 0 genome.wustl.edu 37 17 17071929 17071929 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 17071929 17071929 G A SNP ENSG00000263624 ENST00000584203 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-45M22.3 Clone_based_vega_gene ENSG00000267439 0 genome.wustl.edu 37 19 36243396 36243396 + RNA SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 36243396 36243396 C T SNP ENSG00000267439 ENST00000591091 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.11 Clone_based_vega_gene EPS8L2 64787 genome.wustl.edu 37 11 726667 726667 + Silent SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 726667 726667 C T SNP EPS8L2 ENST00000318562 human ensembl 70_37 +1 known silent c.1983 p.L661 0.987 superfamily_SAM/pointed 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 ESD 2098 genome.wustl.edu 37 13 47354125 47354125 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 13 47354125 47354125 G T SNP ESD ENST00000378720 human ensembl 70_37 -1 known missense c.545 p.P182H 1.000 pfam_Esterase_put,pfam_Peptidase_S9,tigrfam_S-formylglutathione_hydrol pfam_Esterase_put,pfam_Peptidase_S9,pfam_AXE1,tigrfam_S-formylglutathione_hydrol - no_errors ESD HGNC FAM122A 116224 genome.wustl.edu 37 9 71395260 71395260 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 71395260 71395260 G A SNP FAM122A ENST00000394264 human ensembl 70_37 +1 known silent c.180 p.R60 0.995 NULL NULL - no_errors FAM122A HGNC FARS2 10667 genome.wustl.edu 37 6 5368821 5368821 + Silent SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 5368821 5368821 C G SNP FARS2 ENST00000274680 human ensembl 70_37 +1 known silent c.18 p.L6 0.002 NULL 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 126411466 126411466 + Nonsense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 126411466 126411466 G T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known nonsense c.13489 p.E4497* 0.996 NULL 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 FBXO16 157574 genome.wustl.edu 37 8 28314370 28314370 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 8 28314370 28314370 G T SNP FBXO16 ENST00000521548 human ensembl 70_37 -1 known silent c.420 p.I140 0.970 superfamily_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO16 HGNC FCGBP 8857 genome.wustl.edu 37 19 40357710 40357710 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 40357710 40357710 G T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.15603 p.S5201 0.385 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC GNPTAB 79158 genome.wustl.edu 37 12 102160054 102160054 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 102160054 102160054 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.1427 p.R476L 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GPN1 11321 genome.wustl.edu 37 2 27852242 27852242 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 27852242 27852242 G T SNP GPN1 ENST00000407583 human ensembl 70_37 +1 putative missense c.8 p.G3V 0.003 NULL pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom - no_errors GPN1 HGNC GRAMD3 65983 genome.wustl.edu 37 5 125820204 125820205 + Frame_Shift_Ins INS - - T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 125820204 125820205 - T INS GRAMD3 ENST00000542322 human ensembl 70_37 +1 known frame_shift_ins c.982_983 p.V330fs 0.007:0.006 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC GVINP1 387751 genome.wustl.edu 37 11 6740075 6740075 + RNA SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 6740075 6740075 G T SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors GVINP1 HGNC HAVCR2 84868 genome.wustl.edu 37 5 156522377 156522377 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 156522377 156522377 C T SNP HAVCR2 ENST00000307851 human ensembl 70_37 -1 known missense c.616 p.G206R 0.306 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR2 HGNC HIST2H3D 653604 genome.wustl.edu 37 1 149784945 149784945 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 149784945 149784945 C T SNP HIST2H3D ENST00000331491 human ensembl 70_37 -1 known missense c.292 p.E98K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC IL31RA 133396 genome.wustl.edu 37 5 55212739 55212739 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 55212739 55212739 C A SNP IL31RA ENST00000447346 human ensembl 70_37 +1 known missense c.2086 p.P696T 0.003 NULL pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC INPP1 3628 genome.wustl.edu 37 2 191236083 191236083 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 191236083 191236083 G A SNP INPP1 ENST00000322522 human ensembl 70_37 +1 known silent c.1155 p.L385 0.992 NULL pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ITGA8 8516 genome.wustl.edu 37 10 15634299 15634299 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 15634299 15634299 G T SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known missense c.2216 p.S739Y 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC KBTBD12 166348 genome.wustl.edu 37 3 127649050 127649050 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 127649050 127649050 G T SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known missense c.1416 p.W472C 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC KDM4A-AS1 100132774 genome.wustl.edu 37 1 44169066 44169066 + RNA DEL T T - TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 44169066 44169066 T - DEL KDM4A-AS1 ENST00000453015 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KDM4A-AS1 HGNC KRT16P3 644945 genome.wustl.edu 37 17 20405802 20405802 + RNA SNP T T C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 20405802 20405802 T C SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KRT16P3 HGNC LILRA1 11024 genome.wustl.edu 37 19 55107748 55107748 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 55107748 55107748 G A SNP LILRA1 ENST00000251372 human ensembl 70_37 +1 known silent c.1053 p.P351 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA1 HGNC LOC344967 344967 genome.wustl.edu 37 4 40045080 40045080 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 40045080 40045080 G A SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.991 - - - no_errors RP11-333E13.4 Clone_based_vega_gene LSM4 25804 genome.wustl.edu 37 19 18423461 18423461 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 18423461 18423461 C T SNP LSM4 ENST00000593829 human ensembl 70_37 -1 known missense c.97 p.D33N 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM4 HGNC LTBP4 8425 genome.wustl.edu 37 19 41117815 41117815 + Missense_Mutation SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 41117815 41117815 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.2305 p.E769Q 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC MAB21L2 10586 genome.wustl.edu 37 4 151504436 151504436 + Silent SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 151504436 151504436 C T SNP MAB21L2 ENST00000317605 human ensembl 70_37 +1 known silent c.255 p.V85 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC MAP1B 4131 genome.wustl.edu 37 5 71495568 71495568 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 71495568 71495568 C T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.6386 p.A2129V 0.952 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP3K14 9020 genome.wustl.edu 37 17 43348487 43348487 + RNA SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 43348487 43348487 G A SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC MAP3K6 9064 genome.wustl.edu 37 1 27683547 27683547 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 27683547 27683547 G A SNP MAP3K6 ENST00000357582 human ensembl 70_37 -1 known missense c.3317 p.S1106L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC MMS22L 253714 genome.wustl.edu 37 6 97609947 97609947 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 97609947 97609947 C G SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known missense c.3316 p.D1106H 0.718 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC MMS22L 253714 genome.wustl.edu 37 6 97609972 97609972 + Silent SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 97609972 97609972 G C SNP MMS22L ENST00000275053 human ensembl 70_37 -1 known silent c.3291 p.L1097 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC MSX1 4487 genome.wustl.edu 37 4 4864435 4864435 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 4864435 4864435 G A SNP MSX1 ENST00000382723 human ensembl 70_37 +1 known silent c.477 p.L159 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13826 13826 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd MT 13826 13826 G T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1490 p.G497V NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 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 MYCBP2-AS1 100874212 genome.wustl.edu 37 13 77651182 77651182 + RNA SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 13 77651182 77651182 G T SNP MYCBP2-AS1 ENST00000596342 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MYCBP2-AS1 HGNC NCOR2 9612 genome.wustl.edu 37 12 124887058 124887059 + In_Frame_Ins INS - - GCT TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 124887058 124887059 - GCT INS NCOR2 ENST00000356219 human ensembl 70_37 -1 known in_frame_ins c.1532_1531 p.511in_frame_insQ 0.999:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NGLY1 55768 genome.wustl.edu 37 3 25775374 25775374 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 25775374 25775374 G T SNP NGLY1 ENST00000280700 human ensembl 70_37 -1 known missense c.1249 p.L417I 0.945 pfam_Rad4/PNGase_transGLS-fold pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC NOB1 28987 genome.wustl.edu 37 16 69786243 69786243 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 69786243 69786243 G A SNP NOB1 ENST00000268802 human ensembl 70_37 -1 known silent c.228 p.Y76 0.930 smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC NPC1 4864 genome.wustl.edu 37 18 21125040 21125040 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 18 21125040 21125040 C T SNP NPC1 ENST00000269228 human ensembl 70_37 -1 known missense c.1831 p.D611N 1.000 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC OTOG 340990 genome.wustl.edu 37 11 17632365 17632365 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 17632365 17632365 C A SNP OTOG ENST00000399391 human ensembl 70_37 +1 known missense c.5554 p.L1852M 0.011 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 PCIF1 63935 genome.wustl.edu 37 20 44569823 44569823 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 44569823 44569823 G A SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.650 p.R217Q 1.000 NULL pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors PCIF1 HGNC PHYHIPL 84457 genome.wustl.edu 37 10 61004878 61004878 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 61004878 61004878 C A SNP PHYHIPL ENST00000373880 human ensembl 70_37 +1 known missense c.658 p.P220T 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC PLCB1 23236 genome.wustl.edu 37 20 8628578 8628578 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 8628578 8628578 G A SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.496 p.E166K 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC PRDM9 56979 genome.wustl.edu 37 5 23522499 23522499 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 23522499 23522499 G A SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.595 p.D199N 1.000 pfam_SSXRD_motif pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC PRMT8 56341 genome.wustl.edu 37 12 3677981 3677981 + Silent SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 3677981 3677981 C G SNP PRMT8 ENST00000382622 human ensembl 70_37 +1 known silent c.591 p.L197 1.000 pfam_Arg_MeTrfase,pfam_Methyltransf_11 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC PRSS58 136541 genome.wustl.edu 37 7 141952174 141952174 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 141952174 141952174 G A SNP PRSS58 ENST00000547058 human ensembl 70_37 -1 known missense c.593 p.P198L 0.988 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS58 HGNC PSMB3 5691 genome.wustl.edu 37 17 36916830 36916830 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 36916830 36916830 G T SNP PSMB3 ENST00000225426 human ensembl 70_37 +1 known missense c.443 p.G148V 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_errors PSMB3 HGNC PTPRZ1 5803 genome.wustl.edu 37 7 121652525 121652525 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 121652525 121652525 C A SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known missense c.3425 p.P1142H 0.999 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC RAD51AP2 729475 genome.wustl.edu 37 2 17696788 17696788 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 2 17696788 17696788 C G SNP RAD51AP2 ENST00000399080 human ensembl 70_37 -1 known missense c.2895 p.K965N 0.999 NULL NULL - no_errors RAD51AP2 HGNC RFPL4B 442247 genome.wustl.edu 37 6 112671103 112671103 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 6 112671103 112671103 C A SNP RFPL4B ENST00000441065 human ensembl 70_37 +1 known missense c.193 p.Q65K 0.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4B HGNC RPGRIP1L 23322 genome.wustl.edu 37 16 53670409 53670409 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 53670409 53670409 G A SNP RPGRIP1L ENST00000379925 human ensembl 70_37 -1 known missense c.3236 p.S1079L 0.774 NULL pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC RPS6KA6 27330 genome.wustl.edu 37 X 83357098 83357098 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 83357098 83357098 C T SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1723 p.E575K 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC RPS6KA6 27330 genome.wustl.edu 37 X 83362646 83362646 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 83362646 83362646 C T SNP RPS6KA6 ENST00000262752 human ensembl 70_37 -1 known missense c.1096 p.A366T 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA6 HGNC SACS 26278 genome.wustl.edu 37 13 23909371 23909371 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 13 23909371 23909371 G A SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.8644 p.H2882Y 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 SCAPER 49855 genome.wustl.edu 37 15 76998298 76998298 + Silent SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 15 76998298 76998298 G T SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known silent c.2193 p.L731 0.588 NULL smart_Znf_U1 - no_errors SCAPER HGNC SETD1B 23067 genome.wustl.edu 37 12 122265698 122265698 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 12 122265698 122265698 G A SNP SETD1B ENST00000267197 human ensembl 70_37 +1 known missense c.5398 p.A1800T 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC SETD9 133383 genome.wustl.edu 37 5 56207082 56207082 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 56207082 56207082 C T SNP SETD9 ENST00000285947 human ensembl 70_37 +1 known missense c.185 p.A62V 1.000 NULL NULL - no_errors SETD9 HGNC SIPA1L2 57568 genome.wustl.edu 37 1 232650405 232650405 + Silent SNP A A G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 232650405 232650405 A G SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known silent c.681 p.P227 0.032 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC SIPA1L3 23094 genome.wustl.edu 37 19 38572484 38572484 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 38572484 38572484 G A SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known silent c.279 p.L93 0.995 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC SLC12A3 6559 genome.wustl.edu 37 16 56899245 56899245 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 56899245 56899245 C A SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known missense c.98 p.P33Q 0.000 NULL pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC SLC25A13 10165 genome.wustl.edu 37 7 95820510 95820510 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 95820510 95820510 C A SNP SLC25A13 ENST00000416240 human ensembl 70_37 -1 known missense c.665 p.G222V 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC SLC27A1 376497 genome.wustl.edu 37 19 17611439 17611439 + Nonsense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 17611439 17611439 C G SNP SLC27A1 ENST00000252595 human ensembl 70_37 +1 known nonsense c.1469 p.S490* 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC SLC37A4 2542 genome.wustl.edu 37 11 118897365 118897365 + RNA SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 118897365 118897365 C A SNP SLC37A4 ENST00000330775 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC37A4 HGNC SLC9A1 6548 genome.wustl.edu 37 1 27440672 27440672 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 27440672 27440672 G A SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known missense c.458 p.P153L 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC SPARCL1 8404 genome.wustl.edu 37 4 88414908 88414908 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 4 88414908 88414908 G A SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known silent c.1044 p.G348 0.003 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131345416 131345416 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 131345416 131345416 G A SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.1867 p.A623T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC TAS1R1 80835 genome.wustl.edu 37 1 6635241 6635241 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 6635241 6635241 G A SNP TAS1R1 ENST00000333172 human ensembl 70_37 +1 known missense c.1049 p.R350K 0.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC TEAD1 7003 genome.wustl.edu 37 11 12923610 12923610 + Nonsense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 11 12923610 12923610 G T SNP TEAD1 ENST00000361905 human ensembl 70_37 +1 known nonsense c.778 p.E260* 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS - no_errors TEAD1 HGNC TEK 7010 genome.wustl.edu 37 9 27203078 27203078 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 27203078 27203078 G T SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.2170 p.A724S 0.023 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC TEP1 7011 genome.wustl.edu 37 14 20841187 20841187 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 20841187 20841187 C A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known missense c.6934 p.A2312S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TERF1 7013 genome.wustl.edu 37 8 73951440 73951440 + Missense_Mutation SNP G G T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 8 73951440 73951440 G T SNP TERF1 ENST00000276603 human ensembl 70_37 +1 known missense c.1129 p.A377S 0.000 superfamily_Homeodomain-like,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF1 HGNC TFAP2C 7022 genome.wustl.edu 37 20 55212976 55212976 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 20 55212976 55212976 G A SNP TFAP2C ENST00000201031 human ensembl 70_37 +1 known silent c.1260 p.L420 0.980 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC THOC2 57187 genome.wustl.edu 37 X 122761592 122761592 + Silent SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 122761592 122761592 G A SNP THOC2 ENST00000245838 human ensembl 70_37 -1 known silent c.2709 p.V903 1.000 pfam_THO_THOC2_C pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC TLR8 51311 genome.wustl.edu 37 X 12939924 12939924 + Missense_Mutation SNP G G C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd X 12939924 12939924 G C SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.2765 p.W922S 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC TMEM132E 124842 genome.wustl.edu 37 17 32964460 32964460 + Missense_Mutation SNP C C A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 17 32964460 32964460 C A SNP TMEM132E ENST00000321639 human ensembl 70_37 +1 known missense c.2164 p.H722N 1.000 NULL NULL - no_errors TMEM132E HGNC TNKS2 80351 genome.wustl.edu 37 10 93601945 93601946 + Frame_Shift_Ins INS - - A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 93601945 93601946 - A INS TNKS2 ENST00000371627 human ensembl 70_37 +1 known frame_shift_ins c.1856_1857 p.N622fs 1.000:0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC TTLL5 23093 genome.wustl.edu 37 14 76420881 76420882 + RNA INS - - T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 14 76420881 76420882 - T INS TTLL5 ENST00000554972 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors TTLL5 HGNC UROD 7389 genome.wustl.edu 37 1 45479966 45479967 + RNA INS - - T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 1 45479966 45479967 - T INS UROD ENST00000472254 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.007 - - - no_errors UROD HGNC VCAN 1462 genome.wustl.edu 37 5 82785938 82785938 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 5 82785938 82785938 C T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.92 p.P31L 0.900 pfam_Ig_V-set,smart_Ig_sub 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 WDFY4 57705 genome.wustl.edu 37 10 50034953 50034953 + Missense_Mutation SNP A A T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 10 50034953 50034953 A T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.6220 p.S2074C 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WNK2 65268 genome.wustl.edu 37 9 96015293 96015293 + Missense_Mutation SNP C C T TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 9 96015293 96015293 C T SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.1963 p.P655S 0.988 NULL 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 - no_errors WNK2 HGNC YEATS2 55689 genome.wustl.edu 37 3 183469915 183469915 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 183469915 183469915 C G SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.1024 p.Q342E 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC YEATS2 55689 genome.wustl.edu 37 3 183469988 183469988 + Missense_Mutation SNP C C G TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 3 183469988 183469988 C G SNP YEATS2 ENST00000305135 human ensembl 70_37 +1 known missense c.1097 p.S366C 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ZNF557 79230 genome.wustl.edu 37 19 7076482 7076482 + Missense_Mutation SNP G G A TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 19 7076482 7076482 G A SNP ZNF557 ENST00000252840 human ensembl 70_37 +1 known missense c.211 p.V71M 0.853 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF557 HGNC ZNF598 90850 genome.wustl.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 16 2049882 2049883 - TCC INS ZNF598 ENST00000431526 human ensembl 70_37 -1 known in_frame_ins c.1668_1667 p.556in_frame_insE 0.000:0.023 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ZNF800 168850 genome.wustl.edu 37 7 127014880 127014880 + Missense_Mutation SNP T T C TCGA-Q1-A73Q-01A-21D-A32I-09 TCGA-Q1-A73Q-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f903a679-b170-4fea-8590-4c4123c022b7 19807cb3-c66b-40c3-9f44-e9d268c8d4bd 7 127014880 127014880 T C SNP ZNF800 ENST00000265827 human ensembl 70_37 -1 known missense c.510 p.I170M 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC