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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample PIK3CD 5293 broad.mit.edu 37 1 9775907 9775907 + Splice_Site SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr1:9775907G>A ENST00000536656.1 + 5 579 c.371G>A c.(370-372)gGc>gAc p.G124D PIK3CD_ENST00000377346.4_Splice_Site_p.G124D|PIK3CD_ENST00000361110.2_Splice_Site_p.G124D O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 124 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) CACCCCGCAGGCCTCCACGAG 0.682 3 24 --- --- --- --- EFCAB7 84455 broad.mit.edu 37 1 63991268 63991268 + Missense_Mutation SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr1:63991268G>A ENST00000371088.4 + 2 271 c.25G>A c.(25-27)Gca>Aca p.A9T NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 9 calcium ion binding p.A9T(1) breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 ACGAAGCGATGCAACTTTCTC 0.358 6 100 --- --- --- --- TRIM43 129868 broad.mit.edu 37 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr2:96260870G>A ENST00000272395.2 + 3 620 c.484G>A c.(484-486)Gga>Aga p.G162R NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 162 intracellular zinc ion binding p.G162R(2) breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 ATATGAGGAGGGAAGAACAGC 0.398 4 50 --- --- --- --- ZAP70 7535 broad.mit.edu 37 2 98355918 98355918 + Missense_Mutation SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr2:98355918G>A ENST00000264972.5 + 14 2032 c.1817G>A c.(1816-1818)gGg>gAg p.G606E ZAP70_ENST00000451498.2_Missense_Mutation_p.G299E|ZAP70_ENST00000442208.1_Missense_Mutation_p.G480E|ZAP70_ENST00000463643.1_3'UTR NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 606 immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 AAGGTGGAAGGGCCCCCAGGC 0.687 17 19 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168067309 168067309 + Translation_Start_Site SNP T T A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr2:168067309T>A ENST00000409273.1 + 0 314 XIRP2_ENST00000420519.1_Silent_p.G242G|XIRP2_ENST00000409605.1_De_novo_Start_InFrame|XIRP2_ENST00000409728.1_Silent_p.G242G|XIRP2_ENST00000409043.1_Silent_p.G209G|XIRP2_ENST00000295237.9_Silent_p.G209G|XIRP2_ENST00000409195.1_Silent_p.G209G|XIRP2_ENST00000409756.2_Silent_p.G209G NM_001199144.1 NP_001186073.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GGGGCGAGGGTGTGTCAGACC 0.552 60 60 --- --- --- --- STAT4 6775 broad.mit.edu 37 2 191897829 191897829 + Missense_Mutation SNP C C A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr2:191897829C>A ENST00000392320.2 - 21 2213 c.1899G>T c.(1897-1899)ttG>ttT p.L633F STAT4_ENST00000358470.4_Missense_Mutation_p.L633F NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 633 SH2. JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GCAGAGCAGACAACCGGCCTT 0.428 29 30 --- --- --- --- POLQ 10721 broad.mit.edu 37 3 121248495 121248495 + Missense_Mutation SNP C C T TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr3:121248495C>T ENST00000264233.5 - 7 1233 c.1105G>A c.(1105-1107)Gag>Aag p.E369K POLQ_ENST00000488282.1_5'UTR NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 369 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AACTCACCCTCAGCTTGATGA 0.358 DNA polymerases (catalytic subunits) 4 103 --- --- --- --- SEL1L3 23231 broad.mit.edu 37 4 25785888 25785888 + Missense_Mutation SNP G G C TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr4:25785888G>C ENST00000399878.3 - 14 2364 c.2242C>G c.(2242-2244)Cgg>Ggg p.R748G SEL1L3_ENST00000264868.5_Missense_Mutation_p.R713G|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R595G NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 748 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 AAGGCAAGCCGTCTGTTCTTT 0.438 93 141 --- --- --- --- EDNRA 1909 broad.mit.edu 37 4 148453712 148453712 + Missense_Mutation SNP A A G TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr4:148453712A>G ENST00000339690.5 + 3 1005 c.475A>G c.(475-477)Aac>Gac p.N159D EDNRA_ENST00000324300.5_Silent_p.V201V|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000511804.1_5'UTR P25101 EDNRA_HUMAN endothelin receptor type A 0 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TTCCTTTGGTAACTGCCATTG 0.443 55 90 --- --- --- --- SEC63 11231 broad.mit.edu 37 6 108214759 108214759 + Missense_Mutation SNP T T G TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr6:108214759T>G ENST00000369002.4 - 16 1780 c.1601A>C c.(1600-1602)aAa>aCa p.K534T NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 534 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TGTAGGTTTTTTTTTTAAAGG 0.358 73 84 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48314144 48314144 + Silent SNP T T C TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr7:48314144T>C ENST00000435803.1 + 17 4905 c.4881T>C c.(4879-4881)gcT>gcC p.A1627A NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1627 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TAATGAAAGCTACAGGTCTTG 0.368 68 84 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113599319 113599319 + Missense_Mutation SNP A A C TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr8:113599319A>C ENST00000297405.5 - 23 4105 c.3861T>G c.(3859-3861)caT>caG p.H1287Q CSMD3_ENST00000343508.3_Missense_Mutation_p.H1247Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1287Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1183Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1287 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTTGTGCTAAATGAAATGTTC 0.308 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 26 --- --- --- --- KIAA2026 158358 broad.mit.edu 37 9 6007388 6007388 + Nonsense_Mutation SNP C C A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr9:6007388C>A ENST00000399933.3 - 1 399 c.400G>T c.(400-402)Gga>Tga p.G134* KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.G134* NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 134 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ATGCCCTGTCCGGGCTGCTGC 0.692 10 14 --- --- --- --- CDK20 23552 broad.mit.edu 37 9 90585482 90585482 + Splice_Site SNP C C G TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr9:90585482C>G ENST00000325303.8 - 5 869 c.e5+1 CDK20_ENST00000336654.5_Intron|CDK20_ENST00000375883.3_Intron|CDK20_ENST00000605159.1_Intron|CDK20_ENST00000375871.4_Intron NM_001039803.2 NP_001034892.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 AGGGGTCTCACCACAGATCGA 0.592 7 21 --- --- --- --- PALD1 27143 broad.mit.edu 37 10 72291081 72291081 + Silent SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr10:72291081G>A ENST00000263563.6 + 5 772 c.504G>A c.(502-504)gtG>gtA p.V168V NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGGAACCTGTGCTTTTCCTGC 0.592 22 46 --- --- --- --- ATG2A 23130 broad.mit.edu 37 11 64678137 64678137 + Missense_Mutation SNP C C T TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr11:64678137C>T ENST00000421419.2 - 12 1772 c.1658G>A c.(1657-1659)cGg>cAg p.R553Q ATG2A_ENST00000377264.3_Missense_Mutation_p.R553Q Q2TAZ0 ATG2A_HUMAN autophagy related 2A 553 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGCGCAGGGCCGAGCTGAGGC 0.677 5 8 --- --- --- --- UBE3B 89910 broad.mit.edu 37 12 109948242 109948242 + Missense_Mutation SNP C C G TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr12:109948242C>G ENST00000342494.3 + 17 2430 c.1835C>G c.(1834-1836)cCc>cGc p.P612R UBE3B_ENST00000434735.2_Missense_Mutation_p.P612R|UBE3B_ENST00000280774.5_Missense_Mutation_p.P612R|UBE3B_ENST00000535900.1_3'UTR NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 612 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CGCTTCACCCCCGAGGACCAC 0.647 6 10 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124798835 124798835 + Missense_Mutation SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr12:124798835G>A ENST00000324038.3 + 3 415 c.172G>A c.(172-174)Gtg>Atg p.V58M FAM101A_ENST00000338359.4_Missense_Mutation_p.V58M|FAM101A_ENST00000546355.1_Missense_Mutation_p.V58M|FAM101A_ENST00000389727.3_Missense_Mutation_p.V139M NM_181709.4 NP_859060.3 Q6ZTI6 F101A_HUMAN family with sequence similarity 101, member A 139 endometrium(1)|kidney(1)|lung(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) CGAGACCATCGTGGCAGCACC 0.637 4 99 --- --- --- --- MDGA2 161357 broad.mit.edu 37 14 47600972 47600972 + Silent SNP C C T TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr14:47600972C>T ENST00000399232.2 - 5 1027 c.663G>A c.(661-663)agG>agA p.R221R MDGA2_ENST00000439988.3_Silent_p.R290R|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR NM_001113498.2 NP_001106970.3 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 152 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TACATACATTCCTCACTGAAG 0.328 42 50 --- --- --- --- GLDN 342035 broad.mit.edu 37 15 51696652 51696652 + Missense_Mutation SNP G G C TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr15:51696652G>C ENST00000335449.6 + 10 1413 c.1357G>C c.(1357-1359)Gat>Cat p.D453H GLDN_ENST00000396399.2_Missense_Mutation_p.D329H NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 453 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) AGCACAACTGGATGAGAGGAC 0.463 29 87 --- --- --- --- MKL2 57496 broad.mit.edu 37 16 14355248 14355248 + Missense_Mutation SNP A A G TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr16:14355248A>G ENST00000571589.1 + 17 3419 c.3247A>G c.(3247-3249)Atg>Gtg p.M1083V MKL2_ENST00000574045.1_Missense_Mutation_p.M1033V|MKL2_ENST00000341243.5_Missense_Mutation_p.M1072V|MKL2_ENST00000318282.5_Missense_Mutation_p.M1033V NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 1072 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGCGCCGAGCATGTTCTCTGC 0.502 20 49 --- --- --- --- ENKD1 84080 broad.mit.edu 37 16 67699024 67699024 + Nonsense_Mutation SNP C C A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr16:67699024C>A ENST00000243878.4 - 3 649 c.328G>T c.(328-330)Gag>Tag p.E110* ENKD1_ENST00000602409.1_5'UTR|ENKD1_ENST00000602644.1_Nonsense_Mutation_p.E110* NM_032140.1 NP_115516.1 enkurin domain containing 1 TTCTGAATCTCCCTGATCCGC 0.602 8 102 --- --- --- --- MCM8 84515 broad.mit.edu 37 20 5965438 5965438 + Missense_Mutation SNP C C A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr20:5965438C>A ENST00000378896.3 + 15 2122 c.1745C>A c.(1744-1746)gCa>gAa p.A582E MCM8_ENST00000378886.2_Missense_Mutation_p.A622E|MCM8_ENST00000265187.4_Missense_Mutation_p.A566E|MCM8_ENST00000378883.1_Missense_Mutation_p.A535E NM_001281520.1|NM_032485.4|NM_182802.1 NP_001268449.1|NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 582 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 ATGGGGAGTGCACTACTATCC 0.353 4 60 --- --- --- --- BPIFA1 51297 broad.mit.edu 37 20 31825867 31825867 + Missense_Mutation SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr20:31825867G>A ENST00000354297.4 + 3 238 c.167G>A c.(166-168)aGc>aAc p.S56N BPIFA1_ENST00000375413.4_Missense_Mutation_p.S56N|BPIFA1_ENST00000375422.2_Missense_Mutation_p.S56N NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 56 innate immune response extracellular region lipid binding CCAGCCCTCAGCAATGGCCTG 0.602 15 22 --- --- --- --- ZBTB46 140685 broad.mit.edu 37 20 62421621 62421621 + Missense_Mutation SNP C C T TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr20:62421621C>T ENST00000245663.4 - 2 640 c.490G>A c.(490-492)Ggg>Agg p.G164R ZBTB46_ENST00000302995.2_Missense_Mutation_p.G164R|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G164R NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) ATGCTCCTCCCAGCCATCACG 0.637 11 20 --- --- --- --- PCNT 5116 broad.mit.edu 37 21 47847672 47847672 + Missense_Mutation SNP C C T TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr21:47847672C>T ENST00000359568.5 + 34 7564 c.7457C>T c.(7456-7458)tCc>tTc p.S2486F PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2486 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGTCACAGCTCCCTGCTCGAA 0.607 7 23 --- --- --- --- SGSH 6448 broad.mit.edu 37 17 78187632 78187632 + Frame_Shift_Del DEL T T - TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fd313ed-de0b-435e-864c-1169b729acaf abe6e709-1d51-4e6b-92a2-7e5c49b553ab g.chr17:78187632delT ENST00000326317.6 - 6 802 c.716delA c.(715-717)cagfs p.Q239fs SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Frame_Shift_Del_p.S251fs|SGSH_ENST00000534910.1_Frame_Shift_Del_p.Q36fs NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 239 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GGTGGTGTACTGAGCGGCCAG 0.706 2 4 --- --- --- ---