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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut C3orf30 152405 broad.mit.edu 37 3 118866052 118866052 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:118866052A>C uc003ecb.1 + 0 1056 c.1016A>C c.(1015-1017)cAc>cCc p.H339P IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.H339P NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 339 p.H339L(2) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GACAATGCTCACTACACTGAA 0.468000 31 17 0 0 0.00188189 0 0 PRLR 5618 broad.mit.edu 37 5 35065851 35065851 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:35065851G>A uc003jjm.3 - 9 1768 c.1209C>T c.(1207-1209)atC>atT p.I403I PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.I302I|PRLR_uc021xxl.1_Intron NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 403 T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GAAAATAGGGGATTTTGCCTT 0.488000 138 59 0 0 0.000781405 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495446 20495446 + Splice_Site SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:20495446G>A uc001ytf.1 + 5 c.649_splice c.e5+1 Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. TTCTAGCCCAGGTATTCGTAT 0.383000 64 9 0 0 0.000442599 0 0 BCL11A 53335 broad.mit.edu 37 2 60688028 60688028 + Silent SNP G A A rs115953983 by1000genomes TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:60688028G>A uc002sae.1 - 3 2247 c.2019C>T c.(2017-2019)ttC>ttT p.F673F BCL11A_uc002sab.3_Silent_p.F673F|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.F342F|BCL11A_uc010ypj.2_Silent_p.F639F|BCL11A_uc002sad.1_Silent_p.F521F|BCL11A_uc002saf.1_Silent_p.F639F NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 673 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGAAGCTAAGGAAGGGATCTT 0.642000 T IGH@ B-CLL 326 145 0 0 0.000781405 0 0 OR5M8 219484 broad.mit.edu 37 11 56258182 56258182 + Missense_Mutation SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:56258182G>T uc001nix.1 - 0 665 c.665C>A c.(664-666)cCt>cAt p.P222H OR8U8_uc001nit.2_Intron NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F221F(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TAAAATAGCAGGGAAAATGTA 0.408000 29 12 1.49906e-05 4.96293e-05 0.00244969 1 0 NLRP8 126205 broad.mit.edu 37 19 56466752 56466752 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:56466752C>T uc002qmh.3 + 2 1399 c.1328C>T c.(1327-1329)tCc>tTc p.S443F NLRP8_uc010etg.3_Missense_Mutation_p.S443F NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 443 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGAACTTTTCCAGAAAGATC 0.473000 83 13 0 0 0.00185496 0 0 OR6A2 8590 broad.mit.edu 37 11 6816899 6816899 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:6816899A>G uc001mes.1 - 0 241 c.41T>C c.(40-42)gTg>gCg p.V14A NM_003696 NP_003687 O95222 OR6A2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCCCAGCAACACAAACTCACT 0.507000 45 12 0 0 0.00185496 0 0 DAPL1 92196 broad.mit.edu 37 2 159663565 159663565 + Splice_Site SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:159663565A>C uc002uaf.3 + 3 203 c.147_splice c.e3-2 p.S49_splice NM_001017920 NP_001017920 A0PJW8 DAPL1_HUMAN Homo sapiens death associated protein-like 1 (DAPL1), mRNA. 49 apoptosis|cell differentiation prostate(1) 1 TCATCTTCACAGTGCCATTGC 0.438000 18 7 0 0 0.00198382 0 0 DGKK 139189 broad.mit.edu 37 X 50119821 50119821 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:50119821G>A uc010njr.2 - 23 3231 c.3187C>T c.(3187-3189)Ctc>Ttc p.L1063F NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA. 1070 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TCGTCAGAGAGGCTCTCTTGA 0.502000 24 9 0 0 0.000978159 0 0 OR2M4 26245 broad.mit.edu 37 1 248402764 248402764 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248402764C>T uc010pzh.2 + 0 534 c.534C>T c.(532-534)ttC>ttT p.F178F NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F177fs*4(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATCACTTTTTCTGTGATGTTG 0.428000 90 50 0 0 0.000781405 0 0 TONSL 4796 broad.mit.edu 37 8 145661974 145661975 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:145661974_145661975CC>TT uc011llg.2 - 15 1995_1996 c.1980_1981GG>AA c.(1978-1983)atggag>atAAag p.660_661ME>IK AK298596_uc011llh.1_Intron NM_013432 NP_038460 Q96HA7 TONSL_HUMAN Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA. 660 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 AGCAGCATCTCCATGGCCCTGG 0.673000 39 10 0 0 6.4e-05 0 0 POMT1 10585 broad.mit.edu 37 9 134382804 134382804 + Silent SNP C T T rs138064523 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:134382804C>T uc004cav.3 + 4 532 c.330C>T c.(328-330)ctC>ctT p.L110L POMT1_uc011mci.1_Silent_p.L110L|POMT1_uc004cax.3_Silent_p.L110L|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Silent_p.L110L|POMT1_uc004caw.3_Silent_p.L56L|POMT1_uc011mck.2_5'UTR|POMT1_uc011mcl.2_Intron|POMT1_uc011mcm.2_Silent_p.L80L NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. 110 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TGCCAGCACTCGCGGGGGCCT 0.562000 60 33 0 0 0.00283554 0 0 SPG11 80208 broad.mit.edu 37 15 44890914 44890914 + Silent SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:44890914T>C uc001ztx.3 - 21 3838 c.3807A>G c.(3805-3807)agA>agG p.R1269R SPG11_uc010ueh.2_Silent_p.R1269R|SPG11_uc010uei.2_Silent_p.R1269R|SPG11_uc001zty.1_5'UTR NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 1269 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCATATCAACTCTGAGCTTGA 0.418000 58 20 0 0 0.00188189 0 0 L1TD1 54596 broad.mit.edu 37 1 62675455 62675455 + Splice_Site SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:62675455G>A uc021ooc.1 + 5 1444 c.1009_splice c.e5-1 p.D337_splice L1TD1_uc001dae.4_Splice_Site_p.D337_splice NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 337 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 TAACTTTCAGGATAAAACCCT 0.294000 50 15 0 0 0.00244969 0 0 PML 5371 broad.mit.edu 37 15 74337233 74337233 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:74337233G>A uc002awv.3 + 8 2673 c.2533G>A c.(2533-2535)Gct>Act p.A845T PML_uc002awu.3_Missense_Mutation_p.A797T|PML_uc010ule.2_Missense_Mutation_p.A406T NM_033238 NP_150241 P29590 PML_HUMAN Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA. 845 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CAACCTGCAGGCTCTGGGCAC 0.652000 T """RARA, PAX5""" """APL, ALL""" 55 29 0 0 0.001512 0 0 TNS1 7145 broad.mit.edu 37 2 218669215 218669216 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:218669215_218669216GG>AA uc002vgt.2 - 32 5572_5573 c.5174_5175CC>TT c.(5173-5175)tcc>tTT p.S1725F TNS1_uc002vgr.2_Missense_Mutation_p.S1711F|TNS1_uc002vgs.2_Missense_Mutation_p.S1704F|TNS1_uc002vgq.2_Missense_Mutation_p.S225F NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN Homo sapiens tensin 1 (TNS1), mRNA. 1725 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GCATGACCTTGGAGACGAAGTT 0.624000 84 28 0 0 6.4e-05 0 0 ZNF536 9745 broad.mit.edu 37 19 30936347 30936347 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:30936347G>A uc002nsu.1 + 1 2016 c.1878G>A c.(1876-1878)atG>atA p.M626I ZNF536_uc010edd.1_Missense_Mutation_p.M626I NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGGGAACATGAAGGAGAAGC 0.597000 107 23 0 0 0.000720815 0 0 OR10G4 390264 broad.mit.edu 37 11 123887211 123887211 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:123887211G>A uc010sac.2 + 0 930 c.930G>A c.(928-930)agG>agA p.R310R NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) ATCCTCAGAGGAAATAAATAC 0.348000 29 17 0 0 0.00121646 0 0 LTBP4 8425 broad.mit.edu 37 19 41132981 41132981 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:41132981C>T uc002ooh.1 + 31 4285 c.4285C>T c.(4285-4287)Cca>Tca p.P1429S LTBP4_uc002oog.1_Missense_Mutation_p.P1392S|LTBP4_uc002ooi.1_Missense_Mutation_p.P1362S|LTBP4_uc002ooj.1_Missense_Mutation_p.P303S|LTBP4_uc002ook.1_Missense_Mutation_p.P564S|LTBP4_uc002ool.1_Missense_Mutation_p.P442S|LTBP4_uc010xvp.1_Missense_Mutation_p.P190S NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA. 1430 Pro-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGACTTAGGTCCACCTTACCA 0.657000 13 7 0 0 0.00198382 0 0 PLCB1 23236 broad.mit.edu 37 20 8717789 8717790 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:8717789_8717790GG>AA uc002wnb.3 + 19 2161_2162 c.2158_2159GG>AA c.(2158-2160)gga>AAa p.G720K PLCB1_uc010zrb.1_Missense_Mutation_p.G619K|PLCB1_uc002wna.3_Missense_Mutation_p.G720K|PLCB1_uc002wnc.1_Missense_Mutation_p.G619K|PLCB1_uc002wnd.1_Missense_Mutation_p.G297K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 720 C2. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AACATCCCAAGGAAATGCTGTG 0.386000 56 20 0 0 6.4e-05 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507615 49507615 + Missense_Mutation SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:49507615G>T uc002plr.1 + 3 218 c.205G>T c.(205-207)Gcc>Tcc p.A69S RUVBL2_uc010yab.2_Missense_Mutation_p.A69S|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.A24S NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA. 69 DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) AGGGAAGATTGCCGGTCGGGC 0.662000 54 20 8.04996e-18 2.68332e-17 0.00188189 1 0 GTF3C4 9329 broad.mit.edu 37 9 135553441 135553441 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:135553441C>T uc010mzv.3 + 1 693 c.435C>T c.(433-435)ttC>ttT p.F145F GTF3C4_uc010mzw.3_Non-coding_Transcript NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA. 145 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GTCAGACTTTCATGTTGGATA 0.483000 73 25 0 0 0.000720815 0 0 VPS18 57617 broad.mit.edu 37 15 41192378 41192378 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:41192378G>A uc001zne.3 + 3 1701 c.1362G>A c.(1360-1362)gaG>gaA p.E454E NM_020857 NP_065908 Q9P253 VPS18_HUMAN Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA. 454 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCTACTTTGAGGAGATTGCCC 0.622000 58 20 0 0 0.000958276 0 0 XIRP2 129446 broad.mit.edu 37 2 168097208 168097208 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:168097208A>G uc002udx.3 + 6 1093 c.1004A>G c.(1003-1005)aAc>aGc p.N335S XIRP2_uc010fpn.3_Missense_Mutation_p.N368S|XIRP2_uc010fpo.3_Missense_Mutation_p.N335S|XIRP2_uc002udy.3_Missense_Mutation_p.N160S|XIRP2_uc010fpq.3_Missense_Mutation_p.N113S|XIRP2_uc010fpr.3_Missense_Mutation_p.N113S NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 160 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 GAGGAAGTAAACCAAGCATCT 0.308000 67 25 0 0 0.00106085 0 0 ADAP2 55803 broad.mit.edu 37 17 29283285 29283285 + Silent SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:29283285T>C uc010csk.3 + 9 1206 c.927T>C c.(925-927)ttT>ttC p.F309F ADAP2_uc002hfy.3_Silent_p.F302F|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.F303F NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA. 303 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 GCCAGGTTTTTCTTGGGAACA 0.592000 45 10 0 0 0.000978159 0 0 MRAP2 112609 broad.mit.edu 37 6 84765113 84765113 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:84765113G>A uc003pkg.4 + 1 266 c.76G>A c.(76-78)Gaa>Aaa p.E26K MRAP2_uc010kbo.3_5'UTR NM_138409 NP_612418 Q96G30 MRAP2_HUMAN Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA. 26 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 CTGGGAATATGAATATTATGA 0.383000 54 13 0 0 0.00136819 0 0 DPP6 1804 broad.mit.edu 37 7 154585800 154585800 + Missense_Mutation SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:154585800T>C uc003wlk.3 + 10 1277 c.1148T>C c.(1147-1149)aTc>aCc p.I383T DPP6_uc003wli.3_Missense_Mutation_p.I319T|DPP6_uc003wlm.3_Missense_Mutation_p.I321T|DPP6_uc011kvq.2_Missense_Mutation_p.I276T NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 383 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAGTACTACATCACCATGGTG 0.652000 18 19 0 0 0.00152264 0 0 ACAD10 80724 broad.mit.edu 37 12 112182825 112182825 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:112182825C>T uc009zvx.3 + 13 2386 c.2186C>T c.(2185-2187)tCc>tTc p.S729F ACAD10_uc001tsp.3_Missense_Mutation_p.S698F|ACAD10_uc001tsq.3_Missense_Mutation_p.S698F|ACAD10_uc001tss.1_Non-coding_Transcript NM_001136538 NP_001130010 Q6JQN1 ACD10_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA. 698 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups p.S698F(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TGGAGCCCCTCCCCACTGATC 0.602000 30 13 0 0 0.00244969 0 0 KCNA6 3742 broad.mit.edu 37 12 4920465 4920466 + Missense_Mutation DNP AT TG TG TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:4920465_4920466AT>TG uc001qng.3 + 0 2124_2125 c.1258_1259AT>TG c.(1258-1260)atg>TGg p.M420W KCNA6_uc021qtr.1_Missense_Mutation_p.M420W NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 420 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T419T(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 AGTGGTTACAATGACCACGGTA 0.584000 HNSCC(72;0.22) 68 34 0 0 6.4e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 45 45 0 0 0.000781405 0 0 OR2G6 391211 broad.mit.edu 37 1 248685082 248685082 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248685082C>T uc001ien.1 + 0 135 c.135C>T c.(133-135)ctC>ctT p.L45L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L45I(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACACTGCCCTCATACTAGTAT 0.478000 49 40 0 0 0.000953801 0 0 MVP 9961 broad.mit.edu 37 16 29857188 29857188 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:29857188G>A uc002dui.3 + 11 2178 c.2026G>A c.(2026-2028)Gag>Aag p.E676K BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.E676K|MVP_uc010vea.2_Missense_Mutation_p.E270K NM_005115 NP_059447 Q14764 MVP_HUMAN Homo sapiens major vault protein (MVP), transcript variant 2, mRNA. 676 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CTCCAGGCATGAGGCTCAGAG 0.642000 17 11 0 0 0.000978159 0 0 NEK4 6787 broad.mit.edu 37 3 52780790 52780790 + Missense_Mutation SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:52780790T>C uc003dfq.4 - 8 1840 c.1637A>G c.(1636-1638)cAc>cGc p.H546R NEK4_uc011bej.2_Missense_Mutation_p.H457R|NEK4_uc003dfr.3_Missense_Mutation_p.H500R NM_003157 NP_003148 P51957 NEK4_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA. 546 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TTCCCCTCTGTGCTCAGTCTG 0.483000 38 24 0 0 0.00106085 0 0 PRKDC 5591 broad.mit.edu 37 8 48842431 48842431 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:48842431C>T uc003xqi.3 - 17 2091 c.2034G>A c.(2032-2034)aaG>aaA p.K678K PRKDC_uc003xqj.3_Silent_p.K678K NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 678 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATTTTATTTTCTTGGCATTTC 0.318000 Non-homologous end-joining 29 10 0 0 0.000978159 0 0 KRT6A 3853 broad.mit.edu 37 12 52881529 52881529 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:52881529G>A uc001sam.3 - 8 1879 c.1670C>T c.(1669-1671)tCc>tTc p.S557F NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 557 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCCTGCTGGAGGAGGAGGT 0.602000 56 22 0 0 0.00127121 0 0 ITGA8 8516 broad.mit.edu 37 10 15639298 15639298 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:15639298C>T uc001ioc.1 - 21 2119 c.2119_splice c.e21-1 p.G707_splice ITGA8_uc010qcb.1_Splice_Site_p.G692_splice NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 707 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GGTCGAAATCCCTACAATTGC 0.498000 31 22 0 0 0.00229938 0 0 PJA1 64219 broad.mit.edu 37 X 68381749 68381749 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:68381749G>A uc022byl.1 - 0 1333 c.1333C>T c.(1333-1335)Cga>Tga p.R445* PJA1_uc004dxg.3_Nonsense_Mutation_p.R257*|PJA1_uc004dxh.3_Nonsense_Mutation_p.R445*|PJA1_uc004dxi.3_Nonsense_Mutation_p.R390*|PJA1_uc011mpi.2_Nonsense_Mutation_p.R163* NM_001032396 NP_001027568 Q8NG27 PJA1_HUMAN Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA. 445 zinc ion binding endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 GATGGTTCTCGAACTTCTTCA 0.577000 88 51 0 0 0.000781405 0 0 TMC2 117532 broad.mit.edu 37 20 2591073 2591073 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:2591073C>T uc002wgf.1 + 11 1437 c.1422C>T c.(1420-1422)atC>atT p.I474I TMC2_uc002wgg.1_Silent_p.I458I|TMC2_uc010zpw.1_Silent_p.I306I|TMC2_uc010zpx.1_Silent_p.I305I NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 474 integral to membrane p.E473D(1) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGGTAGAGATCGTGATGTCCC 0.512000 126 37 0 0 0.0025221 0 0 PAPPA2 60676 broad.mit.edu 37 1 176758969 176758969 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:176758969G>A uc001gkz.3 + 17 5904 c.4740G>A c.(4738-4740)ctG>ctA p.L1580L PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1580 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L1580Q(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TACAATGCCTGGAAGGTGGAA 0.448000 7 18 0 0 0.000566183 0 0 PLCZ1 89869 broad.mit.edu 37 12 18847966 18847966 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:18847966C>T uc021qvx.1 - 11 1530 c.1339G>A c.(1339-1341)Ggg>Agg p.G447R PLCZ1_uc001rdv.4_Missense_Mutation_p.G343R|PLCZ1_uc001rdw.4_Missense_Mutation_p.G188R|PLCZ1_uc001rdu.1_Missense_Mutation_p.G229R|PLCZ1_uc009zil.1_Non-coding_Transcript NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 447 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAAAATTTCCCATTTTGCAGA 0.343000 44 12 0 0 0.00136819 0 0 OR5D18 219438 broad.mit.edu 37 11 55587319 55587319 + Missense_Mutation SNP T A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:55587319T>A uc010rin.2 + 0 214 c.214T>A c.(214-216)Ttc>Atc p.F72I NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CTTTGTGGATTTCTGCTATTC 0.408000 107 56 0 0 0.000781405 0 0 KLHL32 114792 broad.mit.edu 37 6 97561953 97561953 + Missense_Mutation SNP C T T rs35641414 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:97561953C>T uc010kcm.1 + 6 1394 c.922C>T c.(922-924)Cgg>Tgg p.R308W KLHL32_uc003poy.3_Missense_Mutation_p.R308W|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.R272W|KLHL32_uc011eae.1_Missense_Mutation_p.R239W|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA. 308 p.R308W(2) breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CAAGGAACTTCGGTACTTCAA 0.527000 53 24 0 0 0.00229938 0 0 SRGAP3 9901 broad.mit.edu 37 3 9166422 9166422 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:9166422C>T uc003brf.1 - 1 923 c.247G>A c.(247-249)Gag>Aag p.E83K SRGAP3_uc003brg.1_Missense_Mutation_p.E83K|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Missense_Mutation_p.E83K NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 83 FCH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AACTGGTGCTCCCGGGAGCTG 0.592000 T RAF1 pilocytic astrocytoma 41 23 0 0 0.00047179 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303936 151303936 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:151303936G>A uc022cgz.1 - 0 157 c.157C>T c.(157-159)Ccc>Tcc p.P53S MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P53S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P53S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P53S NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 53 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) gaggaggagggaaaagaggat 0.557000 47 12 0 0 0.000978159 0 0 CENPT 80152 broad.mit.edu 37 16 67865769 67865769 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:67865769G>A uc002eun.4 - 7 960 c.411C>T c.(409-411)ctC>ctT p.L137L CENPT_uc010vkc.2_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Silent_p.L34L NM_025082 NP_079358 Q96BT3 CENPT_HUMAN Homo sapiens centromere protein T (CENPT), mRNA. 137 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) TGGGGGGCTCGAGCTCAGGAA 0.577000 22 17 0 0 0.00121646 0 0 VSTM1 284415 broad.mit.edu 37 19 54561647 54561647 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:54561647C>T uc002qcw.4 - 2 444 c.268G>A c.(268-270)Gat>Aat p.D90N VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Intron|VSTM1_uc002qcx.4_Missense_Mutation_p.D90N|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Intron NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA. 90 Ig-like V-type. integral to membrane p.K89N(1) breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CTCCCAGCATCCTTAGGCTTC 0.532000 92 21 0 0 0.00152264 0 0 C15orf2 23742 broad.mit.edu 37 15 24921643 24921643 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:24921643G>A uc001ywo.3 + 0 1103 c.629G>A c.(628-630)gGa>gAa p.G210E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 210 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCTCTGGAGGGAAATGTCTAC 0.612000 29 8 0 0 0.000442599 0 0 SNRNP200 23020 broad.mit.edu 37 2 96968966 96968966 + Silent SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:96968966G>T uc002svu.3 - 2 444 c.312C>A c.(310-312)ccC>ccA p.P104P NM_014014 NP_054733 O75643 U520_HUMAN Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA. 104 U5 snRNP|catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CTTTAGTTTTGGGCTTGTAGA 0.478000 337 10 6.40141e-05 0.000211572 0.000978159 1 0 PNPLA8 50640 broad.mit.edu 37 7 108154961 108154961 + Silent SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:108154961T>C uc003vff.1 - 3 1382 c.975A>G c.(973-975)gaA>gaG p.E325E PNPLA8_uc003vfi.1_Silent_p.E225E|PNPLA8_uc003vfh.1_Silent_p.E325E|PNPLA8_uc003vfj.1_Silent_p.E325E|PNPLA8_uc003vfk.1_Silent_p.E225E NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA. 325 fatty acid metabolic process|lipid catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TAGCAGGCTCTTCCTGTTCTT 0.438000 136 33 0 0 0.000692331 0 0 ZAN 7455 broad.mit.edu 37 7 100369572 100369572 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:100369572C>T uc003uwj.3 + 28 5519 c.5354C>T c.(5353-5355)tCc>tTc p.S1785F ZAN_uc003uwk.3_Missense_Mutation_p.S1785F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S362F|ZAN_uc011kke.2_5'Flank NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1785 binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTGTGCCGCTCCCTGCAGGCC 0.647000 37 8 0 0 0.00307968 0 0 HEPH 9843 broad.mit.edu 37 X 65412096 65412096 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:65412096G>A uc011moz.2 + 6 1487 c.1350G>A c.(1348-1350)atG>atA p.M450I HEPH_uc004dwn.3_Missense_Mutation_p.M399I|HEPH_uc004dwo.3_Missense_Mutation_p.M129I|HEPH_uc010nkr.3_Missense_Mutation_p.M399I|HEPH_uc011mpa.2_Missense_Mutation_p.M399I NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 396 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.M396I(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 ATGGCCCGATGGGGCATGATG 0.507000 36 14 0 0 0.00074312 0 0 PEG3 5178 broad.mit.edu 37 19 57335917 57335917 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:57335917C>T uc002qnu.2 - 0 458 c.107G>A c.(106-108)gGa>gAa p.G36E PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G36E|PEG3_uc002qnv.2_Missense_Mutation_p.G36E|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.G36E NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 36 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGGACCTTCTCCTATGATGAC 0.478000 50 23 0 0 0.00188189 0 0 TRHR 7201 broad.mit.edu 37 8 110131314 110131314 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:110131314C>T uc003ymz.4 + 1 916 c.827C>T c.(826-828)gCc>gTc p.A276V NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 276 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) ATTCTGTTTGCCCTTTTATGG 0.403000 175 80 0 0 0.000781405 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368313 74368313 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:74368313C>T uc002axa.1 - 7 619 c.578G>A c.(577-579)aGa>aAa p.R193K NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA. 193 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 GACCGCTTCTCTGCAGCTCGA 0.562000 103 21 0 0 0.000586117 0 0 AHSG 197 broad.mit.edu 37 3 186338685 186338685 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:186338685C>T uc003fqk.4 + 6 1151 c.1070C>T c.(1069-1071)cCa>cTa p.P357L NM_001622 NP_001613 P02765 FETUA_HUMAN Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA. 357 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GTGGTTCCTCCATGTCCGGGG 0.562000 27 12 0 0 0.000978159 0 0 NWD1 284434 broad.mit.edu 37 19 16859961 16859961 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:16859961G>A uc002neu.4 + 5 930 c.508G>A c.(508-510)Gag>Aag p.E170K NWD1_uc002net.4_Missense_Mutation_p.E35K|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.E35K NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 170 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATTGAGTGGGAGATAGAGCG 0.542000 22 6 0 0 0.00198382 0 0 FNDC7 163479 broad.mit.edu 37 1 109271474 109271474 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:109271474G>A uc001dvx.3 + 7 1590 c.1590G>A c.(1588-1590)cgG>cgA p.R530R FNDC7_uc010ova.2_Silent_p.R297R NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 531 Fibronectin type-III 6. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGGCAGGACGGAGCCTGCCCA 0.562000 36 14 0 0 0.000422831 0 0 UNC13C 440279 broad.mit.edu 37 15 54792317 54792317 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:54792317G>A uc021smr.1 + 18 5095 c.5095G>A c.(5095-5097)Gaa>Aaa p.E1699K UNC13C_uc021sms.1_Missense_Mutation_p.E1701K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1701 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGATGAAAACGAAGATGTGTC 0.348000 25 10 0 0 0.00244969 0 0 KNTC1 9735 broad.mit.edu 37 12 123034322 123034322 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:123034322C>T uc001ucv.3 + 12 1160 c.997C>T c.(997-999)Ctc>Ttc p.L333F KNTC1_uc010taf.2_Missense_Mutation_p.L296F NM_014708 NP_055523 P50748 KNTC1_HUMAN Homo sapiens kinetochore associated 1 (KNTC1), mRNA. 333 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GATGAAAAACCTCATGGTTTA 0.308000 8 3 0 0 6.4e-05 0 0 KRT10 3858 broad.mit.edu 37 17 38978776 38978776 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:38978776C>T uc002hvi.3 - 0 88 c.62G>A c.(61-63)gGa>gAa p.G21E TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN Homo sapiens keratin 10 (KRT10), mRNA. 21 Gly-rich.|Head. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) tcctcctcctcctcctcctcc 0.552000 17 9 0 0 0.000274275 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737683 62737683 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:62737683G>A uc011abt.2 - 0 502 c.502C>T c.(502-504)Ctg>Ttg p.L168L NM_005286 NP_005277 P48146 NPBW2_HUMAN Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA. 168 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CAGACACACAGGCTGGCGACC 0.652000 26 7 0 0 0.000442599 0 0 DSC1 1823 broad.mit.edu 37 18 28710596 28710596 + Missense_Mutation SNP C T T rs147309022 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:28710596C>T uc002kwn.3 - 15 2828 c.2566G>A c.(2566-2568)Ggt>Agt p.G856S DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 856 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GCCAGAGAACCTTTGCCTTCA 0.438000 62 23 0 0 0.00229938 0 0 VAMP7 6845 broad.mit.edu 37 X 155127812 155127812 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:155127812G>A uc004fnr.3 + 3 419 c.241G>A c.(241-243)Gag>Aag p.E81K VAMP7_uc011naa.2_Missense_Mutation_p.E42K|VAMP7_uc011nab.2_5'UTR|VAMP7_uc004fnt.3_Missense_Mutation_p.E40K|VAMP7_uc004fns.3_Missense_Mutation_p.E81K|VAMP7_uc011nac.2_Missense_Mutation_p.E14K NM_005638 NP_005629 P51809 VAMP7_HUMAN Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA. 81 Longin. ER to Golgi vesicle-mediated transport|calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion Golgi apparatus|SNARE complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTTTCTGAATGAGATAAAGAA 0.398000 86 15 0 0 0.00074312 0 0 INSL6 11172 broad.mit.edu 37 9 5164194 5164194 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:5164194C>T uc003zix.3 - 1 377 c.361G>A c.(361-363)Gga>Aga p.G121R NM_007179 NP_009110 Q9Y581 INSL6_HUMAN Homo sapiens insulin-like 6 (INSL6), mRNA. 121 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GGTGAATATCCCTTTTTATCC 0.348000 29 78 0 0 0.000781405 0 0 PRX 57716 broad.mit.edu 37 19 40902141 40902141 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40902141G>A uc002onr.3 - 6 2387 c.2118C>T c.(2116-2118)ctC>ctT p.L706L PRX_uc002onq.3_Silent_p.L567L|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 706 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCACCTCTGGGAGGTGCACAT 0.567000 117 19 0 0 0.00278032 0 0 TRPC4 7223 broad.mit.edu 37 13 38225576 38225576 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:38225576C>T uc010abx.3 - 7 2140 c.1905G>A c.(1903-1905)tgG>tgA p.W635* TRPC4_uc010abv.3_Nonsense_Mutation_p.W215*|TRPC4_uc001uwt.3_Nonsense_Mutation_p.W635*|TRPC4_uc001uws.3_Nonsense_Mutation_p.W635*|TRPC4_uc010tey.2_Nonsense_Mutation_p.W635*|TRPC4_uc010abw.3_Nonsense_Mutation_p.W462*|TRPC4_uc010aby.3_Intron NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 635 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTGCAAATTTCCATTCTATAT 0.428000 27 11 0 0 0.000978159 0 0 CYLC1 1538 broad.mit.edu 37 X 83128367 83128367 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:83128367G>A uc004eei.1 + 3 672 c.651G>A c.(649-651)aaG>aaA p.K217K CYLC1_uc004eeh.1_Silent_p.K216K NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 217 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TACATACAAAGAACAATCCAA 0.308000 29 5 0 0 0.000602214 0 0 OR4A16 81327 broad.mit.edu 37 11 55110948 55110948 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:55110948C>T uc010rie.2 + 0 272 c.272C>T c.(271-273)tCc>tTc p.S91F NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 ATCGCTATTTCCTTGTCAGCT 0.438000 94 62 0 0 0.000781405 0 0 ACTN2 88 broad.mit.edu 37 1 236914939 236914940 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:236914939_236914940CC>TT uc001hyf.2 + 14 2030_2031 c.1826_1827CC>TT c.(1825-1827)acc>aTT p.T609I ACTN2_uc001hyg.2_Missense_Mutation_p.T401I|ACTN2_uc009xgi.1_Missense_Mutation_p.T609I|ACTN2_uc010pxu.1_Missense_Mutation_p.T298I NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 609 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGCTCCGGACCAAGTGGGACA 0.564000 51 9 0 0 6.4e-05 0 0 SLC6A13 6540 broad.mit.edu 37 12 344336 344336 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:344336G>A uc001qic.2 - 6 841 c.751C>T c.(751-753)Cga>Tga p.R251* SLC6A13_uc009zdj.2_Nonsense_Mutation_p.R251*|SLC6A13_uc010sdl.2_Nonsense_Mutation_p.R159*|SLC6A13_uc010sdm.1_Nonsense_Mutation_p.R132* NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 251 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GTCACCCCTCGAATTAACAGG 0.537000 21 14 0 0 0.00185496 0 0 ATF7 11016 broad.mit.edu 37 12 53928439 53928439 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:53928439A>G uc001sdy.3 - 4 461 c.440T>C c.(439-441)gTt>gCt p.V147A ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.V136A|ATF7_uc010sol.2_Missense_Mutation_p.V115A NM_001130059 NP_001123531 P17544 ATF7_HUMAN Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA. 147 Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 CTTTGGGGTAACCTCCTGGAG 0.433000 45 11 0 0 0.000978159 0 0 DCC 1630 broad.mit.edu 37 18 50731625 50731625 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:50731625C>T uc002lfe.2 + 9 2229 c.1613C>T c.(1612-1614)tCt>tTt p.S538F DCC_uc010xdr.1_Missense_Mutation_p.S386F|DCC_uc010dpf.2_Missense_Mutation_p.S193F NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 538 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAAGCTGTATCTACCTCACCT 0.423000 131 50 0 0 0.000781405 0 0 ATM 472 broad.mit.edu 37 11 108213955 108213955 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:108213955C>T uc001pkb.1 + 56 8660 c.8275C>T c.(8275-8277)Ccc>Tcc p.P2759S ATM_uc009yxr.1_Missense_Mutation_p.P2759S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.P1411S NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2759 PI3K/PI4K. DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CCAGGTGGTTCCCCTCTCTCA 0.388000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 70 44 0 0 0.000781405 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891911 18891911 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:18891911C>T uc001rdy.3 + 0 867 c.709C>T c.(709-711)Caa>Taa p.Q237* PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 237 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GAACAAATTTCAAGCTGCAGT 0.423000 48 23 0 0 0.00278032 0 0 TLL1 7092 broad.mit.edu 37 4 166996071 166996071 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:166996071G>A uc003irh.2 + 16 2877 c.2230G>A c.(2230-2232)Gaa>Aaa p.E744K TLL1_uc011cjn.2_Missense_Mutation_p.E767K|TLL1_uc011cjo.2_Missense_Mutation_p.E568K NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 744 EGF-like 2; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATGTCAGCACGAATGTGTCAA 0.393000 65 23 0 0 0.00229938 0 0 ATP4A 495 broad.mit.edu 37 19 36046380 36046380 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:36046380G>A uc002oal.1 - 13 2148 c.2119C>T c.(2119-2121)Cag>Tag p.Q707* ATP4A_uc010eee.1_5'UTR NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 707 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) AGCTTCTGCTGGGGGCTGGTG 0.662000 20 13 0 0 0.00136819 0 0 SLC4A10 57282 broad.mit.edu 37 2 162660961 162660961 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:162660961C>T uc002ubx.4 + 2 317 c.133C>T c.(133-135)Cat>Tat p.H45Y SLC4A10_uc010fpa.1_Missense_Mutation_p.H57Y|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.H56Y|SLC4A10_uc002uby.4_Missense_Mutation_p.H45Y NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 45 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTATGAAGGTCATCGAACACT 0.388000 23 9 0 0 0.000978159 0 0 MSH3 4437 broad.mit.edu 37 5 80057454 80057454 + Missense_Mutation SNP T G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:80057454T>G uc003kgz.3 + 12 2106 c.1853T>G c.(1852-1854)tTg>tGg p.L618W NM_002439 NP_002430 P20585 MSH3_HUMAN Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA. 618 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CTACGTAAATTGCCCGACATA 0.393000 Mismatch excision repair (MMR) 28 11 0 0 0.00244969 0 0 PREX2 80243 broad.mit.edu 37 8 69020350 69020350 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:69020350C>T uc003xxv.1 + 23 2749 c.2722C>T c.(2722-2724)Cgt>Tgt p.R908C PREX2_uc011lez.1_Missense_Mutation_p.R843C NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 908 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCAGTTTTCTCGTGTACTGAA 0.393000 26 7 0 0 0.00198382 0 0 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:7577082C>T uc002gim.2 - 7 1050 c.856G>A c.(856-858)Gaa>Aaa p.E286K TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E286K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E154K|TP53_uc010cnf.1_Missense_Mutation_p.E154K|TP53_uc002gii.1_Missense_Mutation_p.E154K|TP53_uc010cni.1_Missense_Mutation_p.E286K|TP53_uc010cnh.1_Missense_Mutation_p.E286K|TP53_uc002gij.2_Missense_Mutation_p.E286K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 286 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(114)|p.E285K(107)|p.E286*(40)|p.E285*(20)|p.E286G(16)|p.E285V(14)|p.E286Q(10)|p.E286V(8)|p.0?(8)|p.E285G(5)|p.E285Q(4)|p.E286fs*59(4)|p.E286fs*17(4)|p.E285E(3)|p.E285_N288delEEEN(2)|p.E285A(2)|p.R282_E287delRRTEEE(2)|p.T284_G293del10(2)|p.E285fs*13(2)|p.?(2)|p.L265_K305del41(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.V272_K292del21(2)|p.E285_L289delEEENL(2)|p.G279fs*59(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.E285fs*60(1)|p.E285fs*20(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATTCTCTTCCTCTGTGCGC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 6 0 0 0.00307968 0 0 KCTD19 146212 broad.mit.edu 37 16 67327935 67327935 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:67327935C>T uc002esu.2 - 11 1781 c.1730G>A c.(1729-1731)cGa>cAa p.R577Q KCTD19_uc002est.2_Missense_Mutation_p.R349Q|KCTD19_uc010vjj.1_Missense_Mutation_p.R320Q NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA. 577 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTTGGCATTTCGGCATAGGGA 0.582000 104 59 0 0 0.000781405 0 0 OR4M2 390538 broad.mit.edu 37 15 22369378 22369378 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:22369378C>T uc010tzu.2 + 0 901 c.803C>T c.(802-804)tCc>tTc p.S268F abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(2) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTCGTTTTCCCTAGATAAA 0.423000 118 26 0 0 0.00106085 0 0 VPS39 23339 broad.mit.edu 37 15 42458803 42458803 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:42458803G>A uc001zpd.3 - 15 1748 c.1597C>T c.(1597-1599)Ctg>Ttg p.L533L VPS39_uc001zpc.3_Silent_p.L522L|VPS39_uc001zpb.3_5'Flank NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 533 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) TGGCCTTTCAGAGGGGAGTTG 0.557000 41 9 0 0 0.000442599 0 0 ANK3 288 broad.mit.edu 37 10 61830452 61830452 + Missense_Mutation SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:61830452G>T uc001jky.3 - 36 10525 c.10187C>A c.(10186-10188)tCc>tAc p.S3396Y ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3396 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTGGCAATGGAACACTCTGT 0.468000 43 32 4.62619e-21 1.55001e-20 0.000814825 1 0 PTPRT 11122 broad.mit.edu 37 20 41514563 41514563 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:41514563G>A uc002xkg.3 - 1 282 c.98C>T c.(97-99)tCc>tTc p.S33F PTPRT_uc010ggj.3_Missense_Mutation_p.S33F NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 33 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTCATCAAAGGAACAGCCACC 0.478000 47 27 0 0 0.00127121 0 0 TNN 63923 broad.mit.edu 37 1 175097186 175097186 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:175097186G>A uc001gkl.1 + 13 3177 c.3064G>A c.(3064-3066)Gaa>Aaa p.E1022K NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 1022 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCTGGGACGGGAAGACCAGAG 0.552000 70 18 0 0 0.00074312 0 0 SLC22A8 9376 broad.mit.edu 37 11 62760988 62760988 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:62760988C>T uc009yon.3 - 9 1558 c.1437G>A c.(1435-1437)ggG>ggA p.G479G SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.G356G|SLC22A8_uc001nwo.3_Silent_p.G479G|SLC22A8_uc010rmm.2_Silent_p.G388G|SLC22A8_uc001nwp.2_Silent_p.G479G NM_001184732 NP_001171665 Q8TCC7 S22A8_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA. 479 YGI -> FTGS (in Ref. 1; AAD19357). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GGGCGGTGATCCCGTAGATGA 0.582000 54 11 0 0 0.00185496 0 0 TSSK4 283629 broad.mit.edu 37 14 24677292 24677292 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:24677292G>A uc001wnh.3 + 3 1161 c.957G>A c.(955-957)gaG>gaA p.E319E TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Silent_p.E233E|TSSK4_uc001wnf.3_Silent_p.E239E|TSSK4_uc001wng.3_Silent_p.E309E NM_001184739 NP_001171668 Q6SA08 TSSK4_HUMAN Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA. 309 cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) GGCTGCTTGAGGCCATGTGCC 0.542000 27 14 0 0 0.00244969 0 0 FAAH2 158584 broad.mit.edu 37 X 57318998 57318998 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:57318998G>A uc004dvc.3 + 1 409 c.260G>A c.(259-261)gGa>gAa p.G87E NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 87 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 ATGATCAATGGAATTGTCAAG 0.393000 HNSCC(52;0.14) 41 33 0 0 0.00209593 0 0 DDX53 168400 broad.mit.edu 37 X 23018769 23018769 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:23018769G>A uc004daj.3 + 0 692 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 199 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CTGGAGAAAGGAAAATTTCAA 0.388000 86 36 0 0 0.00148497 0 0 TRHDE 29953 broad.mit.edu 37 12 72863634 72863634 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:72863634C>T uc001sxa.3 + 3 1307 c.1277C>T c.(1276-1278)tCa>tTa p.S426L NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 426 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.V425A(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CCCAGTGTTTCATCTATTTCT 0.393000 46 12 0 0 0.00185496 0 0 CLMN 79789 broad.mit.edu 37 14 95670789 95670789 + Silent SNP G A A rs143079668 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:95670789G>A uc001yef.2 - 8 1013 c.897C>T c.(895-897)ttC>ttT p.F299F NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA. 299 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TATCTGAATCGAAAATATCTT 0.333000 21 14 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179489390 179489390 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:179489390C>T uc021vsy.1 - 190 37138 c.36913G>A c.(36913-36915)Gag>Aag p.E12305K MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E6000K|TTN_uc021vta.1_Missense_Mutation_p.E5933K|TTN_uc021vtb.1_Missense_Mutation_p.E5808K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13232 Ig-like 82. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P12304S(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCACACTCCAGCACTGCA 0.453000 58 31 0 0 0.001512 0 0 HECW1 23072 broad.mit.edu 37 7 43484587 43484587 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:43484587G>A uc003tid.1 + 10 2421 c.1816G>A c.(1816-1818)Gtg>Atg p.V606M HECW1_uc011kbi.1_Missense_Mutation_p.V606M NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 606 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.T606T(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGTGGACACGGTGGCCGCTGA 0.711000 14 9 0 0 0.000442599 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117779432 117779432 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:117779432C>T uc001prs.2 - 8 1323 c.1177G>A c.(1177-1179)Gag>Aag p.E393K TMPRSS13_uc009yzr.2_Missense_Mutation_p.E358K|TMPRSS13_uc021qrc.1_Missense_Mutation_p.E393K|TMPRSS13_uc001prt.1_Missense_Mutation_p.E72K|TMPRSS13_uc001pru.2_Missense_Mutation_p.E393K NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA. 388 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GAGGCTGCCTCAGGCAACTGG 0.597000 18 4 0 0 0.00198382 0 0 MYH3 4621 broad.mit.edu 37 17 10552993 10552993 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:10552993G>A uc002gmq.2 - 6 631 c.543C>T c.(541-543)tcC>tcT p.S181S NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 181 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTCCTGCCCCGGATTCTCCGC 0.478000 39 28 0 0 0.00178596 0 0 PTPRA 5786 broad.mit.edu 37 20 2969051 2969051 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:2969051G>A uc010zqd.2 + 7 1019 c.702G>A c.(700-702)gtG>gtA p.V234V PTPRA_uc002whj.3_Silent_p.V223V|PTPRA_uc010zqc.1_Silent_p.V108V|PTPRA_uc002whk.3_Silent_p.V214V|PTPRA_uc002whl.3_Silent_p.V214V|PTPRA_uc002whm.3_5'UTR|PTPRA_uc002whn.3_Silent_p.V214V|PTPRA_uc002who.3_5'UTR NM_002836 NP_002827 P18433 PTPRA_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA. 223 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CCCTGCCCGTGGACAAGCTGG 0.527000 44 25 0 0 0.000586117 0 0 TAT 6898 broad.mit.edu 37 16 71610089 71610089 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:71610089G>A uc002fap.2 - 1 329 c.230C>T c.(229-231)tCc>tTc p.S77F TAT_uc002faq.3_Missense_Mutation_p.S77F|TAT_uc002far.3_Missense_Mutation_p.S77F NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 77 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CTCACCAATGGACAGGGAAAT 0.502000 16 7 0 0 0.00198382 0 0 POM121L12 285877 broad.mit.edu 37 7 53103666 53103666 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:53103666C>T uc003tpz.3 + 0 318 c.302C>T c.(301-303)gCc>gTc p.A101V NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 101 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 AGGCGCCCTGCCCTTCCCGGG 0.726000 26 12 0 0 0.000978159 0 0 SYT11 23208 broad.mit.edu 37 1 155838375 155838375 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:155838375C>T uc001fmg.3 + 1 947 c.654C>T c.(652-654)acC>acT p.T218T SYT11_uc010pgq.2_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN Homo sapiens synaptotagmin XI (SYT11), mRNA. 218 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TGCGGAAGACCCTGGACCCTG 0.557000 49 12 0 0 0.000978159 0 0 DNAH8 1769 broad.mit.edu 37 6 38830135 38830135 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38830135G>A uc021yzh.1 + 43 6320 c.6211G>A c.(6211-6213)Gaa>Aaa p.E2071K DNAH8_uc003ooe.2_Missense_Mutation_p.E1854K NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGGCAAAACAGAAACCACAAA 0.463000 67 35 0 0 0.000814825 0 0 POLE 5426 broad.mit.edu 37 12 133226033 133226033 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:133226033G>A uc001uks.1 - 30 3908 c.3864C>T c.(3862-3864)gcC>gcT p.A1288A POLE_uc001ukr.1_Silent_p.A92A|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A1261A NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 1288 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCTTCCTGCGGGCGAGGCGCT 0.657000 DNA polymerases (catalytic subunits) 54 6 0 0 0.00307968 0 0 DDOST 1650 broad.mit.edu 37 1 20980210 20980210 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:20980210C>T uc001bdo.1 - 7 1046 c.903G>A c.(901-903)aaG>aaA p.K301K DDOST_uc010odd.1_Silent_p.K100K|DDOST_uc010ode.1_Silent_p.K264K NM_005216 NP_005207 P39656 OST48_HUMAN Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA. 301 T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CACCCTCCTCCTTGAACACCC 0.597000 22 11 0 0 0.000673444 0 0 RIMS2 9699 broad.mit.edu 37 8 104897590 104897590 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:104897590G>A uc003yls.3 + 1 338 c.97G>A c.(97-99)Gaa>Aaa p.E33K RIMS2_uc003ylp.3_Missense_Mutation_p.E255K|RIMS2_uc003ylw.2_Missense_Mutation_p.E63K|RIMS2_uc003ylq.3_Missense_Mutation_p.E63K|RIMS2_uc003ylr.3_Missense_Mutation_p.E63K NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 286 RabBD. intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGAAAGAGAGGAATATTCACA 0.413000 HNSCC(12;0.0054) 23 12 0 0 0.00185496 0 0 BAG6 7917 broad.mit.edu 37 6 31615563 31615563 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:31615563G>A uc003nvg.4 - 6 925 c.611C>T c.(610-612)cCg>cTg p.P204L BAG6_uc003nvf.4_Missense_Mutation_p.P198L|BAG6_uc003nvi.4_Missense_Mutation_p.P198L|BAG6_uc003nvh.4_Missense_Mutation_p.P198L|BAG6_uc011dnw.2_Missense_Mutation_p.P198L|BAG6_uc011dnx.2_Missense_Mutation_p.P198L NM_004639 NP_004630 P46379 BAG6_HUMAN Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA. 204 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.P198Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CGGTGGCTGCGGGGGCGGCTG 0.602000 337 155 0 0 0.000781405 0 0 LINS 55180 broad.mit.edu 37 15 101109526 101109526 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:101109526G>A uc002bwg.3 - 6 2414 c.2191C>T c.(2191-2193)Ctt>Ttt p.L731F LINS_uc002bwd.3_Missense_Mutation_p.L318F NM_001040616 NP_001035706 Q8NG48 LINES_HUMAN Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA. 731 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TATGGGAAAAGATTTTTCTTT 0.328000 79 29 0 0 0.00178596 0 0 MUC16 94025 broad.mit.edu 37 19 9090789 9090789 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9090789C>T uc002mkp.3 - 0 1230 c.1026G>A c.(1024-1026)agG>agA p.R342R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 342 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCTTCTGACCCTTTCGGCAC 0.512000 33 4 0 0 0.00024832 0 0 FREM1 158326 broad.mit.edu 37 9 14804986 14804986 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:14804986C>T uc003zlm.3 - 19 4255 c.3439G>A c.(3439-3441)Gaa>Aaa p.E1147K FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1147 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCAGGAGCTTCATCATTTGTG 0.363000 31 25 0 0 0.000586117 0 0 MB21D2 151963 broad.mit.edu 37 3 192517371 192517371 + Missense_Mutation SNP G C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:192517371G>C uc011bsp.2 - 1 601 c.280C>G c.(280-282)Cgg>Ggg p.R94G NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA. 94 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 ACGCCTTCCCGGACACCTCCA 0.473000 25 12 0 0 0.00244969 0 0 ACTN2 88 broad.mit.edu 37 1 236923026 236923026 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:236923026G>A uc001hyf.2 + 18 2508 c.2304G>A c.(2302-2304)agG>agA p.R768R ACTN2_uc001hyg.2_Silent_p.R560R|ACTN2_uc009xgi.1_Silent_p.R768R|ACTN2_uc010pxu.1_Silent_p.R457R NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 768 EF-hand 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCCAACAGAGGAAGAATGGCC 0.433000 56 40 0 0 0.000680045 0 0 DSP 1832 broad.mit.edu 37 6 7583542 7583542 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:7583542G>A uc003mxp.1 + 23 6326 c.6047G>A c.(6046-6048)gGa>gAa p.G2016E DSP_uc003mxq.1_Missense_Mutation_p.G1417E|DSP_uc021yle.1_Missense_Mutation_p.G1573E NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2016 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CGGGGTGCAGGATCTATCGCT 0.453000 51 18 0 0 0.000566183 0 0 AGPAT3 56894 broad.mit.edu 37 21 45402199 45402199 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:45402199C>T uc002zdx.3 + 10 1983 c.1318C>T c.(1318-1320)Cgc>Tgc p.R440C AGPAT3_uc002zdv.3_Missense_Mutation_p.R353C|AGPAT3_uc002zdw.3_Missense_Mutation_p.R353C|AGPAT3_uc002zdy.3_Missense_Mutation_p.R291C NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA. 353 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.R353C(1) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) CTTTGGAGTTCGCAGACTGAT 0.448000 171 62 0 0 0.000781405 0 0 DSG3 1830 broad.mit.edu 37 18 29046579 29046579 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:29046579G>A uc002kws.3 + 10 1607 c.1498G>A c.(1498-1500)Gat>Aat p.D500N NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 500 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTCGAAAAAGATGCAGTTTG 0.428000 100 40 0 0 0.00128727 0 0 FSCN3 29999 broad.mit.edu 37 7 127235455 127235455 + Missense_Mutation SNP G C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:127235455G>C uc003vmd.2 + 1 458 c.239G>C c.(238-240)gGc>gCc p.G80A FSCN3_uc003vmc.1_Missense_Mutation_p.G35A|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.G80A NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA. 80 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GAGTGTGATGGCACCGTGTGT 0.577000 71 19 0 0 0.00152264 0 0 SLC35F5 80255 broad.mit.edu 37 2 114486999 114486999 + Silent SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:114486999A>G uc002tku.1 - 10 1483 c.1069T>C c.(1069-1071)Ttg>Ctg p.L357L SLC35F5_uc002tkt.3_Non-coding_Transcript NM_025181 NP_079457 Q8WV83 S35F5_HUMAN Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA. 357 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 GGAATATCCAACTTGTCTTCT 0.353000 37 6 0 0 0.00116845 0 0 SSH1 54434 broad.mit.edu 37 12 109186493 109186494 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:109186493_109186494GG>AA uc001tnm.3 - 13 1548_1549 c.1461_1462CC>TT c.(1459-1464)accccg>acTTcg p.P488S SSH1_uc001tnl.3_Missense_Mutation_p.P176S|SSH1_uc010sxg.2_Missense_Mutation_p.P499S|SSH1_uc001tnn.4_Missense_Mutation_p.P488S NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 488 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.P488P(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGCTTTCCGGGGTGCCATCTG 0.644000 44 20 0 0 6.4e-05 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075723 145075723 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:145075723G>A uc001elo.3 - 0 464 c.140C>T c.(139-141)cCg>cTg p.P47L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001emh.3_Missense_Mutation_p.P47L|PDE4DIP_uc001emk.3_Non-coding_Transcript NM_022359 NP_071754 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA. 721 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding p.R47Q(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTCCCGGCTCGGGGTCTGCCG 0.716000 T PDGFRB MPD 99 10 0 0 0.000673444 0 0 OR5M1 390168 broad.mit.edu 37 11 56380724 56380724 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:56380724G>A uc001nja.1 - 0 255 c.255C>T c.(253-255)ttC>ttT p.F85F OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F85F(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 GTTCTGAGAGGAAATTGTGCA 0.448000 70 10 0 0 0.000442599 0 0 TBX15 6913 broad.mit.edu 37 1 119466105 119466105 + Missense_Mutation SNP A T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:119466105A>T uc001ehl.1 - 4 812 c.497T>A c.(496-498)tTt>tAt p.F166Y NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 272 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AGTCTCAGGAAAGTTGAACGT 0.483000 32 18 0 0 0.00074312 0 0 CUL5 8065 broad.mit.edu 37 11 107965615 107965615 + Silent SNP T A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:107965615T>A uc001pjv.3 + 14 2311 c.1644T>A c.(1642-1644)ccT>ccA p.P548P CUL5_uc001pju.3_Non-coding_Transcript NM_003478 NP_003469 Q93034 CUL5_HUMAN Homo sapiens cullin 5 (CUL5), mRNA. 548 G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TCTCACTTCCTACTGAACTGG 0.358000 52 8 0 0 0.000274275 0 0 UGT2B7 7364 broad.mit.edu 37 4 69973826 69973826 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:69973826C>T uc003heg.4 + 4 1142 c.1096C>T c.(1096-1098)Cca>Tca p.P366S UGT2B7_uc010ihq.3_Intron NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 366 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTAGGTCATCCAAAGACCAG 0.418000 72 31 0 0 0.00178596 0 0 FMO1 2326 broad.mit.edu 37 1 171254677 171254677 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:171254677C>T uc009wvz.3 + 8 1729 c.1593C>T c.(1591-1593)ttC>ttT p.F531F FMO1_uc010pme.2_Silent_p.F468F|FMO1_uc001ghl.3_Silent_p.F531F|FMO1_uc001ghm.3_Silent_p.F531F NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 531 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCTGATTTTCCTATAAGTAA 0.363000 30 14 0 0 0.00244969 0 0 ANKRD28 23243 broad.mit.edu 37 3 15719851 15719851 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:15719851G>A uc003caj.1 - 23 2625 c.2482C>T c.(2482-2484)Cat>Tat p.H828Y ANKRD28_uc003cai.1_Missense_Mutation_p.H674Y|ANKRD28_uc011avz.1_Missense_Mutation_p.H674Y|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc011avy.1_5'Flank NM_015199 NP_001182028 O15084 ANR28_HUMAN Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA. 828 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GCGGCTGCATGGAGAGGAGTT 0.363000 61 9 0 0 0.00136819 0 0 LTBP1 4052 broad.mit.edu 37 2 33525539 33525539 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:33525539G>A uc021vft.1 + 20 3280 c.3257G>A c.(3256-3258)gGg>gAg p.G1086E LTBP1_uc002rou.3_Missense_Mutation_p.G760E|LTBP1_uc002rov.3_Missense_Mutation_p.G707E|LTBP1_uc010ymz.2_Missense_Mutation_p.G760E|LTBP1_uc010yna.2_Missense_Mutation_p.G707E|LTBP1_uc010ynb.2_Missense_Mutation_p.G26E NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 1086 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGTCAGCAAGGGAATCTATGT 0.488000 44 19 0 0 0.00278032 0 0 NLRP4 147945 broad.mit.edu 37 19 56369333 56369333 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:56369333G>A uc002qmd.4 + 2 996 c.574G>A c.(574-576)Gaa>Aaa p.E192K NLRP4_uc002qmf.3_Missense_Mutation_p.E117K|NLRP4_uc010etf.3_Missense_Mutation_p.E23K NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 192 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTGCTGCAGAGAACTGAGGGA 0.507000 80 34 0 0 0.00058488 0 0 NF1 4763 broad.mit.edu 37 17 29654621 29654621 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:29654621C>T uc002hgg.3 + 37 5756 c.5373C>T c.(5371-5373)atC>atT p.I1791I NF1_uc002hgh.3_Silent_p.I1770I|NF1_uc002hgi.1_Silent_p.I803I|NF1_uc010cso.3_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1791 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTGAAGAAATCTGCCTAGTAG 0.448000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 70 9 0 0 0.000673444 0 0 SMAD3 4088 broad.mit.edu 37 15 67482846 67482846 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:67482846C>T uc002aqj.3 + 8 1548 c.1250C>T c.(1249-1251)cCa>cTa p.P417L SMAD3_uc010ujr.2_Missense_Mutation_p.P312L|SMAD3_uc010ujs.2_Missense_Mutation_p.P373L|SMAD3_uc010ujt.2_Missense_Mutation_p.P222L NM_005902 NP_001138576 P84022 SMAD3_HUMAN Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA. 417 MH2. SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) ATGGGCTCCCCAAGCATCCGC 0.547000 19 15 0 0 0.000566183 0 0 CDH16 1014 broad.mit.edu 37 16 66946411 66946411 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:66946411G>A uc002eql.3 - 10 1549 c.1355C>T c.(1354-1356)tCc>tTc p.S452F CDH16_uc010cdy.3_Missense_Mutation_p.S452F|CDH16_uc021tjx.1_Missense_Mutation_p.S452F|CDH16_uc002eqm.3_Missense_Mutation_p.S355F NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 452 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCTTACCTGGGAAGTGATGAA 0.577000 42 11 0 0 0.000673444 0 0 SETDB1 9869 broad.mit.edu 37 1 150902529 150902529 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150902529C>T uc001evu.2 + 2 537 c.347C>T c.(346-348)tCt>tTt p.S116F SETDB1_uc001evw.4_Missense_Mutation_p.S116F|SETDB1_uc009wmf.2_Missense_Mutation_p.S116F|SETDB1_uc001evv.2_Missense_Mutation_p.S116F|SETDB1_uc009wmg.2_Missense_Mutation_p.S116F NM_001145415 NP_001138887 Q15047 SETB1_HUMAN Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|chromosome|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGGACGAATCTTCCCGGCCT 0.448000 80 17 0 0 0.00074312 0 0 TNMD 64102 broad.mit.edu 37 X 99854661 99854661 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:99854661C>T uc004efy.4 + 6 1127 c.901C>T c.(901-903)Cgt>Tgt p.R301C TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN Homo sapiens tenomodulin (TNMD), mRNA. 301 integral to membrane p.C300F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 AGTCATCTGTCGTGTCATCAT 0.507000 30 8 0 0 0.000978159 0 0 HEATR8 374977 broad.mit.edu 37 1 55138821 55138821 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:55138821G>A uc010ooe.1 + 7 1981 c.1657G>A c.(1657-1659)Gag>Aag p.E553K HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.E121K|HEATR8_uc010ood.1_Missense_Mutation_p.E71K|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.E553K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 553 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CCTCTTTATCGAGGACCCCAC 0.592000 30 18 0 0 0.00152264 0 0 GPR112 139378 broad.mit.edu 37 X 135428079 135428079 + Missense_Mutation SNP T A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:135428079T>A uc004ezu.1 + 5 2505 c.2214T>A c.(2212-2214)aaT>aaA p.N738K GPR112_uc010nsb.1_Missense_Mutation_p.N533K|GPR112_uc010nsc.1_Missense_Mutation_p.N505K NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 738 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGTTTGCTAATTTCTCCATAG 0.388000 56 13 0 0 0.000308642 0 0 TRIM37 4591 broad.mit.edu 37 17 57125123 57125123 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:57125123G>A uc002iwy.4 - 15 2032 c.1588C>T c.(1588-1590)Cag>Tag p.Q530* TRIM37_uc002iwz.4_Nonsense_Mutation_p.Q530*|TRIM37_uc002ixa.4_Nonsense_Mutation_p.Q408*|TRIM37_uc010woc.2_Nonsense_Mutation_p.Q496* NM_001005207 NP_056109 O94972 TRI37_HUMAN Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA. 530 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CCATCGAGCTGATTTACTTCA 0.393000 Mulibrey Nanism 24 6 0 0 0.00307968 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336949 42336949 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:42336949C>T uc002igf.4 - 8 759 c.610_splice c.e8-1 p.G204_splice SLC4A1_uc021tyc.1_Splice_Site_p.G204_splice NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 204 bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCCCCATCTCCCTGTGGGAAG 0.587000 26 7 0 0 0.00307968 0 0 TNXB 7148 broad.mit.edu 37 6 32013006 32013006 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:32013006G>A uc003nzl.2 - 31 10900 c.10698C>T c.(10696-10698)acC>acT p.T3566T TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Silent_p.T35T NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 3613 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGGAGTCTGGGGTTGTGTCGG 0.652000 281 46 0 0 0.000781405 0 0 SSPO 23145 broad.mit.edu 37 7 149480322 149480322 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:149480322C>T uc010lpk.3 + 15 2204 c.2204C>T c.(2203-2205)cCc>cTc p.P735L SSPO_uc010lpl.1_Missense_Mutation_p.P70L NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 735 VWFD 2. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGAAGATGCCCCTCTGAGGAC 0.617000 48 5 0 0 0.00307968 0 0 INTS9 55756 broad.mit.edu 37 8 28627437 28627437 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:28627437G>A uc003xha.3 - 15 2068 c.1769C>T c.(1768-1770)cCt>cTt p.P590L INTS9_uc011lav.2_Missense_Mutation_p.P566L|INTS9_uc011law.2_Missense_Mutation_p.P569L|INTS9_uc011lax.2_Missense_Mutation_p.P483L|INTS9_uc010lvc.3_Non-coding_Transcript NM_018250 NP_001166033 Q9NV88 INT9_HUMAN Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA. 590 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CTGCTCCACAGGGATGGAACC 0.607000 OREG0018682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 24 0 0 0.000586117 0 0 SPEF2 79925 broad.mit.edu 37 5 35727804 35727804 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:35727804G>A uc003jjo.3 + 20 3053 c.2942G>A c.(2941-2943)gGa>gAa p.G981E SPEF2_uc003jjp.1_Missense_Mutation_p.G467E NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 981 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCATCAGGAGGAAAAGTACCA 0.388000 35 17 0 0 0.000422831 0 0 OR2T33 391195 broad.mit.edu 37 1 248436915 248436915 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248436915C>T uc010pzi.2 - 0 202 c.202G>A c.(202-204)Gac>Aac p.D68N NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGCATCATGTCCATGAGGGAA 0.552000 138 49 0 0 0.000781405 0 0 LGALS13 29124 broad.mit.edu 37 19 40095889 40095889 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40095889G>A uc002omb.3 + 2 204 c.164G>A c.(163-165)cGa>cAa p.R55Q NM_013268 NP_037400 Q9UHV8 PP13_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA. 55 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding p.F54F(1) lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TTCCGTTTCCGAGTGCACTTT 0.498000 53 7 0 0 0.000274275 0 0 METTL2B 55798 broad.mit.edu 37 7 128119282 128119282 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:128119282G>A uc003vnf.3 + 2 310 c.273G>A c.(271-273)aaG>aaA p.K91K METTL2B_uc003vng.3_Silent_p.K26K|METTL2B_uc011kop.2_5'UTR NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN Homo sapiens methyltransferase like 2B (METTL2B), mRNA. 91 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GGTTTTTCAAGGATAGACATT 0.348000 47 5 0 0 0.00307968 0 0 RNF133 168433 broad.mit.edu 37 7 122338165 122338165 + Missense_Mutation SNP G A A rs113296018 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:122338165G>A uc003vkj.1 - 0 1044 c.808C>T c.(808-810)Cgt>Tgt p.R270C CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN Homo sapiens ring finger protein 133 (RNF133), mRNA. 270 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding p.V269I(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GTCAGAATACGAACTATGTCA 0.388000 83 66 0 0 0.000781405 0 0 CER1 9350 broad.mit.edu 37 9 14722193 14722193 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:14722193C>T uc003zlj.3 - 0 523 c.478G>A c.(478-480)Gag>Aag p.E160K NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 160 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CTGCAGGTCTCCCAATGTACT 0.522000 23 24 0 0 0.000586117 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645838 20645838 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:20645838G>A uc001ytg.3 - 19 2947 c.2238C>T c.(2236-2238)atC>atT p.I746I HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.I746I|HERC2P3_uc010tyy.2_Silent_p.I746I Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GCGTGAGAGCGATGCTCTGCA 0.612000 12 11 0 0 0.000978159 0 0 C6orf118 168090 broad.mit.edu 37 6 165715373 165715373 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:165715373G>A uc003qum.4 - 1 474 c.438C>T c.(436-438)ttC>ttT p.F146F C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 146 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCACTGGAAGGAAATCCTCCT 0.627000 79 44 0 0 0.000781405 0 0 NPHS1 4868 broad.mit.edu 37 19 36321826 36321826 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:36321826G>A uc002oby.3 - 27 3670 c.3514C>T c.(3514-3516)Cct>Tct p.P1172S NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 1172 Binds to NPHS2. cell adhesion|excretion|muscle organ development integral to plasma membrane p.P1172S(2) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGTGCCCAGGGAAGGCCATA 0.562000 51 15 0 0 0.00244969 0 0 CSN2 1447 broad.mit.edu 37 4 70823276 70823276 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:70823276G>A uc003hes.4 - 4 404 c.391C>T c.(391-393)Cca>Tca p.P131S CSN2_uc003het.4_Missense_Mutation_p.P130S NM_001891 NP_001882 P05814 CASB_HUMAN Homo sapiens casein beta (CSN2), mRNA. 131 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 GTGAGTTTTGGGATTTGAGGG 0.468000 45 13 0 0 0.00185496 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563556 228563556 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:228563556A>G uc002vpi.3 - 2 964 c.875T>C c.(874-876)tTt>tCt p.F292S SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.F288S NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA. 292 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) AACCTGGTTAAAACCTGCTGT 0.453000 64 23 0 0 0.00188189 0 0 KANSL3 55683 broad.mit.edu 37 2 97270077 97270077 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:97270077G>A uc002swn.4 - 16 2205 c.2059C>T c.(2059-2061)Cct>Tct p.P687S KANSL3_uc002swh.4_Missense_Mutation_p.P573S|KANSL3_uc002swi.4_Missense_Mutation_p.P614S|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.P600S|KANSL3_uc010fhz.3_Missense_Mutation_p.P507S|KANSL3_uc002swl.4_Missense_Mutation_p.P586S|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.P481S|KANSL3_uc002swo.3_Missense_Mutation_p.P35S NM_001115016 NP_060461 Q9P2N6 K1310_HUMAN Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA. 713 ACCACTGAAGGGACTGGGCTG 0.582000 41 5 0 0 0.00116845 0 0 NBEA 26960 broad.mit.edu 37 13 36242646 36242646 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:36242646C>T uc021rid.1 + 56 9274 c.8740C>T c.(8740-8742)Cat>Tat p.H2914Y NBEA_uc021ric.1_Missense_Mutation_p.H2911Y|NBEA_uc010abi.3_Missense_Mutation_p.H1572Y|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.H707Y|NBEA_uc001uvd.3_Missense_Mutation_p.H492Y NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2914 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGACTTGTCCCATGACCAGAG 0.493000 21 19 0 0 0.00229938 0 0 HGF 3082 broad.mit.edu 37 7 81392041 81392041 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:81392041C>T uc003uhl.3 - 1 401 c.236G>A c.(235-237)gGa>gAa p.G79E HGF_uc003uhm.3_Missense_Mutation_p.G79E|HGF_uc003uhn.1_Missense_Mutation_p.G79E|HGF_uc003uho.1_Missense_Mutation_p.G79E|HGF_uc003uhp.3_Missense_Mutation_p.G79E|HGF_uc022agw.1_Missense_Mutation_p.G79E NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 79 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GAATGGAAGTCCTTTATTCCT 0.323000 111 23 0 0 0.000878237 0 0 CERS5 91012 broad.mit.edu 37 12 50524370 50524370 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:50524370C>T uc001rwd.4 - 9 1154 c.1137G>A c.(1135-1137)cgG>cgA p.R379R CERS5_uc001rwc.3_3'UTR|CERS5_uc001rwe.4_Silent_p.R320R|CERS5_uc001rwf.4_Non-coding_Transcript NM_147190 NP_671723 Q8N5B7 CERS5_HUMAN Homo sapiens ceramide synthase 5 (CERS5), mRNA. 379 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GACCATTCACCCGATTGGCAC 0.522000 50 38 0 0 0.00128727 0 0 MAPK6 5597 broad.mit.edu 37 15 52356254 52356254 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:52356254A>G uc002abp.3 + 5 2017 c.1223A>G c.(1222-1224)aAg>aGg p.K408R NM_002748 NP_002739 Q16659 MK06_HUMAN Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA. 408 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) GATCGGGAAAAGTATCTGGAG 0.408000 40 13 0 0 0.00244969 0 0 COL5A2 1290 broad.mit.edu 37 2 189932972 189932972 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:189932972G>A uc002uqk.3 - 19 1557 c.1282C>T c.(1282-1284)Cct>Tct p.P428S COL5A2_uc010frx.3_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 428 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTGGCACCAGGAGTACCATCA 0.408000 95 44 0 0 0.000781405 0 0 USP6 9098 broad.mit.edu 37 17 5048150 5048150 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:5048150G>A uc002gau.1 + 25 4214 c.1984G>A c.(1984-1986)Gct>Act p.A662T USP6_uc002gav.1_Missense_Mutation_p.A662T|USP6_uc010ckz.1_Missense_Mutation_p.A345T NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 662 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGGGAAGTAGCTGCAGAGGT 0.408000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 64 17 0 0 0.00121646 0 0 MTOR 2475 broad.mit.edu 37 1 11303281 11303281 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:11303281G>A uc001asd.3 - 8 1423 c.1302C>T c.(1300-1302)ttC>ttT p.F434F NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 434 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CCAGGGCTTGGAAGGCCGCTG 0.522000 58 21 0 0 0.00152264 0 0 ITGA5 3678 broad.mit.edu 37 12 54798666 54798666 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:54798666C>T uc001sga.3 - 12 1306 c.1238G>A c.(1237-1239)gGg>gAg p.G413E ITGA5_uc010sow.1_Non-coding_Transcript NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 413 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AAAGGGAGCCCCGATGGCCAC 0.582000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 3 0 0 6.4e-05 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166831811 166831811 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:166831811C>T uc003qvd.1 - 20 2028 c.1915G>A c.(1915-1917)Ggg>Agg p.G639R RPS6KA2_uc011ego.1_Missense_Mutation_p.G525R|RPS6KA2_uc010kkl.1_Missense_Mutation_p.G525R|RPS6KA2_uc003qvb.1_Missense_Mutation_p.G614R|RPS6KA2_uc003qvc.1_Missense_Mutation_p.G622R|RPS6KA2_uc010kkk.1_Missense_Mutation_p.G46R NM_021135 NP_066958 Q15349 KS6A2_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA. 614 Protein kinase 2. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TCGTCTGGCCCATTTGCAAAA 0.443000 52 18 0 0 0.000958276 0 0 C9orf89 84270 broad.mit.edu 37 9 95872947 95872948 + Missense_Mutation DNP CC GT GT TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:95872947_95872948CC>GT uc004atd.3 + 2 426_427 c.248_249CC>GT c.(247-249)gcc>gGT p.A83G C9orf89_uc004atf.3_Non-coding_Transcript NM_032310 NP_115686 Q96LW7 BINCA_HUMAN Homo sapiens chromosome 9 open reading frame 89 (C9orf89), mRNA. 83 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TTCTACCGAGCCCTGTATATCC 0.649000 36 23 0 0 6.4e-05 0 0 CPAMD8 27151 broad.mit.edu 37 19 17085952 17085952 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:17085952G>A uc002nfb.3 - 16 2198 c.2166C>T c.(2164-2166)ttC>ttT p.F722F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 675 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AAGGCCACGGGAAGACAGAGG 0.567000 19 10 0 0 0.000673444 0 0 EXD1 161829 broad.mit.edu 37 15 41482309 41482309 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:41482309C>T uc010ucv.2 - 10 1154 c.882G>A c.(880-882)tgG>tgA p.W294* EXD1_uc001znj.3_Nonsense_Mutation_p.W34*|EXD1_uc001znk.3_Nonsense_Mutation_p.W236* NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA. 236 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 GTCGGATGAACCATACTTCTG 0.433000 86 54 0 0 0.000781405 0 0 CD19 930 broad.mit.edu 37 16 28950019 28950019 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:28950019G>A uc010byo.2 + 12 1574 c.1512G>A c.(1510-1512)atG>atA p.M504I NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.M503I NM_001178098 NP_001171569 P15391 CD19_HUMAN Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA. 503 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 ATGAGGATATGAGAGGAATCC 0.607000 41 16 0 0 0.00121646 0 0 TLE6 79816 broad.mit.edu 37 19 2987153 2987153 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:2987153G>A uc002lwt.2 + 6 567 c.458G>A c.(457-459)tGg>tAg p.W153* TLE6_uc002lwu.2_Nonsense_Mutation_p.W30* NM_001143986 NP_079036 Q9H808 TLE6_HUMAN Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA. 30 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGAGCCTTGGTTTTGGCAC 0.602000 48 36 0 0 0.00222228 0 0 ABCA13 154664 broad.mit.edu 37 7 48450124 48450124 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:48450124G>A uc003toq.2 + 39 12102 c.12078G>A c.(12076-12078)acG>acA p.T4026T ABCA13_uc010kys.1_Silent_p.T1100T|ABCA13_uc010kyt.1_Non-coding_Transcript NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4026 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity p.E4026D(1) 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 CAGGTCGTACGATCATCTTCA 0.607000 88 22 0 0 0.000720815 0 0 NAF1 92345 broad.mit.edu 37 4 164066932 164066932 + Splice_Site SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:164066932A>G uc003iqj.3 - 4 911 c.717_splice c.e4+1 p.K239_splice NAF1_uc010iqw.1_Splice_Site_p.K239_splice NM_138386 NP_612395 Q96HR8 NAF1_HUMAN Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA. 239 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) TGTTTTACAAACCTTTCCTGC 0.274000 8 3 0 0 6.4e-05 0 0 ZNF185 7739 broad.mit.edu 37 X 152128332 152128332 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:152128332G>A uc011myg.2 + 17 1640 c.1592G>A c.(1591-1593)gGa>gAa p.G531E ZNF185_uc011myi.2_Missense_Mutation_p.G470E|ZNF185_uc011myj.2_Missense_Mutation_p.G440E|ZNF185_uc011myh.2_Missense_Mutation_p.G502E|ZNF185_uc011myk.2_Missense_Mutation_p.G500E|ZNF185_uc010ntv.2_Missense_Mutation_p.G499E|ZNF185_uc004fgw.4_Missense_Mutation_p.G278E|ZNF185_uc004fgu.3_Missense_Mutation_p.G128E|ZNF185_uc004fgv.3_Missense_Mutation_p.G196E|ZNF185_uc004fgx.3_Missense_Mutation_p.G137E NM_001178106 NP_001171577 O15231 ZN185_HUMAN Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA. 499 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGCCAAGGAGACCCAGCT 0.592000 24 5 0 0 0.000602214 0 0 CCDC37 348807 broad.mit.edu 37 3 126138654 126138654 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:126138654G>A uc010hsg.1 + 7 968 c.909G>A c.(907-909)ggG>ggA p.G303G CCDC37_uc003eiu.1_Silent_p.G302G NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 302 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) CCACACCAGGGGACAAAGGTA 0.547000 36 4 0 0 0.000602214 0 0 OR2J2 26707 broad.mit.edu 37 6 29141462 29141462 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:29141462G>A uc011dlm.2 + 0 152 c.50G>A c.(49-51)gGa>gAa p.G17E NM_030905 NP_112167 O76002 OR2J2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 ATTCTACTTGGATTTTCTAAT 0.358000 108 42 0 0 0.000680045 0 0 CR2 1380 broad.mit.edu 37 1 207643060 207643060 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:207643060C>T uc001hfw.3 + 5 957 c.838C>T c.(838-840)Ccc>Tcc p.P280S CR2_uc001hfv.3_Missense_Mutation_p.P280S|CR2_uc009xch.3_Missense_Mutation_p.P280S|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 280 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CCCATCACCTCCCCCTATTCT 0.433000 71 15 0 0 0.000566183 0 0 TRAK2 66008 broad.mit.edu 37 2 202251159 202251159 + Missense_Mutation SNP C A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:202251159C>A uc002uyb.4 - 13 2191 c.1745G>T c.(1744-1746)gGa>gTa p.G582V NM_015049 NP_055864 O60296 TRAK2_HUMAN Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA. 582 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding p.L581F(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 AAGGATGGTTCCCAAGTTTGG 0.443000 108 45 8.48111e-28 2.8465e-27 0.000781405 1 0 TECTA 7007 broad.mit.edu 37 11 121008698 121008698 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:121008698C>T uc010rzo.2 + 9 3510 c.3510C>T c.(3508-3510)atC>atT p.I1170I NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1170 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCTACAGCATCGTGATCCACC 0.562000 23 10 0 0 0.000673444 0 0 MUC16 94025 broad.mit.edu 37 19 9068414 9068414 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9068414G>A uc002mkp.3 - 2 19236 c.19032C>T c.(19030-19032)tcC>tcT p.S6344S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6346 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCATTGATGTGGAAACTATTG 0.438000 38 14 0 0 0.00185496 0 0 GOLGA3 2802 broad.mit.edu 37 12 133357462 133357462 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:133357462G>A uc001ukz.1 - 17 4063 c.3504C>T c.(3502-3504)cgC>cgT p.R1168R GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.R1168R NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 1168 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTTCATCTGGCGATCCTCCT 0.537000 46 15 0 0 0.00244969 0 0 CSMD3 114788 broad.mit.edu 37 8 113529291 113529291 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:113529291G>A uc003ynu.3 - 27 4887 c.4728C>T c.(4726-4728)ttC>ttT p.F1576F CSMD3_uc003yns.3_Silent_p.F848F|CSMD3_uc003ynt.3_Silent_p.F1536F|CSMD3_uc011lhx.2_Silent_p.F1472F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1576 Sushi 8. 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 TGGGCTGCCAGAAGTACCGAT 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 26 0 0 0.00209593 0 0 ISLR 3671 broad.mit.edu 37 15 74467238 74467238 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:74467238G>A uc002axg.1 + 1 321 c.39G>A c.(37-39)ctG>ctA p.L13L ISLR_uc002axh.1_Silent_p.L13L|ISLR_uc021sqf.1_Silent_p.L13L NM_005545 NP_958934 O14498 ISLR_HUMAN Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA. 13 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CGCTTCTCCTGGGCCTGGCTC 0.632000 45 15 0 0 0.000566183 0 0 RECK 8434 broad.mit.edu 37 9 36087828 36087828 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:36087828C>T uc003zyv.3 + 8 861 c.775C>T c.(775-777)Cct>Tct p.P259S RECK_uc003zyw.3_Missense_Mutation_p.P131S|RECK_uc003zyx.3_Non-coding_Transcript NM_021111 NP_066934 O95980 RECK_HUMAN Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA. 259 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GCCTCAAGATCCTCTTTGGCA 0.483000 66 20 0 0 0.00152264 0 0 HMBOX1 79618 broad.mit.edu 37 8 28876343 28876343 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:28876343C>T uc003xhd.4 + 5 1106 c.764C>T c.(763-765)cCc>cTc p.P255L HMBOX1_uc010lvd.3_Missense_Mutation_p.P255L|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.P255L|HMBOX1_uc011lay.2_Missense_Mutation_p.P255L|HMBOX1_uc003xhg.3_Missense_Mutation_p.P243L|HMBOX1_uc003xhf.3_Missense_Mutation_p.P243L NM_001135726 NP_078843 Q6NT76 HMBX1_HUMAN Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA. 255 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) CAAACGCCTCCCCCAGTCTCT 0.488000 51 25 0 0 0.000720815 0 0 SNRPC 6631 broad.mit.edu 37 6 34741275 34741275 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:34741275C>T uc003ojt.2 + 5 858 c.408C>T c.(406-408)ccC>ccT p.P136P SNRPC_uc021yyv.1_Silent_p.P95P|SNRPC_uc021yyw.1_Silent_p.P157P NM_003093 NP_003084 P09234 RU1C_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA. 136 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 TGCCTGGGCCCCCAATGATGA 0.552000 43 17 0 0 0.000566183 0 0 MINK1 50488 broad.mit.edu 37 17 4789256 4789256 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:4789256C>T uc010vsl.2 + 7 934 c.690C>T c.(688-690)gcC>gcT p.A230A MINK1_uc010vsk.2_Silent_p.A230A|MINK1_uc010vsm.2_Silent_p.A230A|MINK1_uc010vsn.2_Silent_p.A230A|MINK1_uc010vso.2_Silent_p.A175A|MINK1_uc010vsp.2_5'UTR NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 230 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CAGAGGGAGCCCCCCGTAAGT 0.567000 21 8 0 0 0.000442599 0 0 DNAH8 1769 broad.mit.edu 37 6 38854607 38854607 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38854607G>A uc021yzh.1 + 56 8409 c.8300G>A c.(8299-8301)gGa>gAa p.G2767E DNAH8_uc003ooe.2_Missense_Mutation_p.G2550E NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GAAATGGAAGGAATGTACAGC 0.398000 55 12 0 0 0.00185496 0 0 AMICA1 120425 broad.mit.edu 37 11 118076638 118076638 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:118076638C>T uc001psk.2 - 4 667 c.493G>A c.(493-495)Gtg>Atg p.V165M AMICA1_uc001psg.2_5'Flank|AMICA1_uc001psh.2_Missense_Mutation_p.V126M|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.V155M|AMICA1_uc010rxw.1_Missense_Mutation_p.V126M|AMICA1_uc010rxx.1_Missense_Mutation_p.V165M|AMICA1_uc001psl.1_Missense_Mutation_p.V121M NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA. 165 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ACCTTGGTCACGTGTTTCACT 0.458000 98 35 0 0 0.00195071 0 0 CENPI 2491 broad.mit.edu 37 X 100375738 100375738 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:100375738C>T uc004egx.3 + 6 922 c.652C>T c.(652-654)Cgt>Tgt p.R218C CENPI_uc011mrg.2_Missense_Mutation_p.R218C|CENPI_uc004egy.3_Missense_Mutation_p.R218C NM_006733 NP_006724 Q92674 CENPI_HUMAN Homo sapiens centromere protein I (CENPI), mRNA. 218 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 CAAACCATTTCGTGTGAGAAA 0.388000 89 12 0 0 0.000422831 0 0 RGS21 431704 broad.mit.edu 37 1 192335163 192335163 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:192335163C>T uc001gsh.3 + 4 542 c.368C>T c.(367-369)tCt>tTt p.S123F NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA. 123 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 GCCAAGGATTCTTTCCCTCGA 0.378000 110 23 0 0 0.00047179 0 0 ECM1 1893 broad.mit.edu 37 1 150484121 150484121 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150484121C>T uc001euv.3 + 6 1177 c.978C>T c.(976-978)ttC>ttT p.F326F ECM1_uc010pcf.2_3'UTR|ECM1_uc010pce.2_3'UTR|ECM1_uc001eus.3_Silent_p.F299F|ECM1_uc001eut.3_Intron|ECM1_uc009wlu.3_Silent_p.F59F NM_001202858 NP_001189787 Q16610 ECM1_HUMAN Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA. 299 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AGCTGCCTTTCCCTCCTGGGG 0.597000 42 13 0 0 0.00185496 0 0 MX2 4600 broad.mit.edu 37 21 42778885 42778885 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:42778885C>T uc002yzf.1 + 12 1969 c.1865C>T c.(1864-1866)tCc>tTc p.S622F MX2_uc002yzg.1_Missense_Mutation_p.S345F|MX2_uc010gop.1_Missense_Mutation_p.S104F NM_002463 NP_002454 P20592 MX2_HUMAN Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA. 622 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCGGTTTCCTCCTTTACTGAA 0.488000 32 16 0 0 0.00074312 0 0 ADAM32 203102 broad.mit.edu 37 8 39114851 39114851 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:39114851C>T uc003xmt.4 + 18 2396 c.2151C>T c.(2149-2151)ttC>ttT p.F717F ADAM32_uc011lch.2_Silent_p.F618F|ADAM32_uc003xmu.4_Silent_p.F611F|ADAM32_uc003xmv.3_Silent_p.F141F NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 717 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AAGAGGAATTCCCAAGTAGCG 0.368000 92 40 0 0 0.000781405 0 0 TMEM132B 114795 broad.mit.edu 37 12 126128723 126128723 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:126128723C>T uc001uhe.1 + 5 1532 c.1524C>T c.(1522-1524)ttC>ttT p.F508F TMEM132B_uc001uhf.1_Silent_p.F20F NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 508 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCTCCCAGTTCGAGGTCACTG 0.527000 42 26 0 0 0.00127121 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830677 43830677 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:43830677G>A uc001cjb.3 - 3 368 c.240C>T c.(238-240)ttC>ttT p.F80F ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Intron NM_022821 NP_073732 Q9BW60 ELOV1_HUMAN Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA. 80 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCGACATCAGGAACTGGGAAG 0.577000 17 6 0 0 0.00116845 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567041 140567041 + Missense_Mutation SNP A T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:140567041A>T uc003liw.1 + 0 149 c.149A>T c.(148-150)aAg>aTg p.K50M NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 50 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATCTGGCAAAGGATCTGGGA 0.502000 15 22 0 0 0.00058488 0 0 CCDC148 130940 broad.mit.edu 37 2 159077138 159077138 + Missense_Mutation SNP T A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:159077138T>A uc002tzq.3 - 10 1653 c.1339A>T c.(1339-1341)Atc>Ttc p.I447F CCDC148_uc002tzr.3_Missense_Mutation_p.I295F|CCDC148_uc010foh.3_Missense_Mutation_p.I160F|LOC554201_uc021vro.1_Intron NM_138803 NP_620158 Q8NFR7 CC148_HUMAN Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA. 447 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TGTTCAGCGATTAATTTCTTC 0.328000 23 8 0 0 0.000673444 0 0 NELL2 4753 broad.mit.edu 37 12 44913944 44913944 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:44913944C>T uc010skz.1 - 19 2519 c.2394G>A c.(2392-2394)gaG>gaA p.E798E NELL2_uc001rof.3_Silent_p.E747E|NELL2_uc001rog.2_Silent_p.E748E|NELL2_uc001roh.2_Silent_p.E748E|NELL2_uc009zkd.2_Silent_p.E700E|NELL2_uc010sla.1_Silent_p.E771E NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 748 VWFC 5. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AGCACTCATTCTCTGGGAGAA 0.542000 9 10 0 0 0.000442599 0 0 PTPRB 5787 broad.mit.edu 37 12 71029686 71029686 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:71029686G>A uc001swc.4 - 1 261 c.216C>T c.(214-216)tcC>tcT p.S72S PTPRB_uc001swa.4_Silent_p.S72S|PTPRB_uc001swd.4_Silent_p.S71S|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Silent_p.S72S NM_001109754 NP_001103224 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA. 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGGAAGAGTTGGAGATGGCCA 0.562000 16 10 0 0 0.000978159 0 0 FAM135B 51059 broad.mit.edu 37 8 139164294 139164294 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:139164294G>A uc003yuy.3 - 12 2595 c.2424C>T c.(2422-2424)tcC>tcT p.S808S FAM135B_uc003yux.3_Silent_p.S709S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.S370S|FAM135B_uc003yvb.3_Silent_p.S370S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 808 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AAGATCCTGGGGAACCTTGGC 0.527000 HNSCC(54;0.14) 36 26 0 0 0.00106085 0 0 FGA 2243 broad.mit.edu 37 4 155506800 155506800 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:155506800G>A uc003iod.1 - 4 1839 c.1781C>T c.(1780-1782)tCc>tTc p.S594F FGA_uc003ioe.1_Missense_Mutation_p.S594F|FGA_uc003iof.1_3'UTR NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 594 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTCAAATGTGGAGTCTCCTCT 0.453000 65 24 0 0 0.00047179 0 0 MED13L 23389 broad.mit.edu 37 12 116434479 116434479 + Nonsense_Mutation SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:116434479G>T uc001tvw.3 - 15 2853 c.2798C>A c.(2797-2799)tCa>tAa p.S933* NM_015335 NP_056150 Q71F56 MD13L_HUMAN Homo sapiens mediator complex subunit 13-like (MED13L), mRNA. 933 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GTGCACATATGAAAAGTCCTG 0.418000 40 10 0.000673444 0.00221827 0.000673444 1 0 OR13H1 347468 broad.mit.edu 37 X 130678868 130678868 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:130678868C>T uc011muw.2 + 0 821 c.821C>T c.(820-822)tCa>tTa p.S274L IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA. 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) AAGTTTATCTCAGTGTTTTAT 0.433000 96 40 0 0 0.00195071 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19568112 19568112 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:19568112G>A uc004czm.3 - 13 1790 c.1474C>T c.(1474-1476)Ccg>Tcg p.P492S SH3KBP1_uc011mje.2_Missense_Mutation_p.P231S|SH3KBP1_uc011mjf.2_Missense_Mutation_p.P254S|SH3KBP1_uc004czl.3_Missense_Mutation_p.P455S|SH3KBP1_uc010nfm.3_5'UTR NM_031892 NP_114098 Q96B97 SH3K1_HUMAN Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA. 492 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GACTGGGACGGAGGCCGCCTC 0.463000 165 26 0 0 0.00178596 0 0 LAMC1 3915 broad.mit.edu 37 1 183083683 183083683 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:183083683C>T uc001gpy.4 + 4 1296 c.1039C>T c.(1039-1041)Cga>Tga p.R347* NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 347 Laminin EGF-like 2. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCAATGGTCGATCCCAGGA 0.468000 282 35 0 0 0.00222228 0 0 IP6K2 51447 broad.mit.edu 37 3 48732679 48732679 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:48732679C>T uc003cuq.3 - 1 507 c.46G>A c.(46-48)Ggc>Agc p.G16S IP6K2_uc003cup.3_Missense_Mutation_p.G16S|IP6K2_uc011bbs.2_Non-coding_Transcript|IP6K2_uc003cut.3_Non-coding_Transcript|IP6K2_uc003cus.3_Missense_Mutation_p.G16S|IP6K2_uc003cur.3_Missense_Mutation_p.G16S|IP6K2_uc011bbv.2_Missense_Mutation_p.G74S|IP6K2_uc011bbu.2_Missense_Mutation_p.G70S|IP6K2_uc011bbr.2_Missense_Mutation_p.G16S|IP6K2_uc011bbt.2_Missense_Mutation_p.G71S|IP6K2_uc011bbq.2_Missense_Mutation_p.G16S NM_016291 NP_057375 Q9UHH9 IP6K2_HUMAN Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA. 16 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 AGAAGGACGCCTTTGGCGCGG 0.662000 22 13 0 0 0.00185496 0 0 KCNK17 89822 broad.mit.edu 37 6 39272353 39272353 + Missense_Mutation SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:39272353T>C uc003ooo.3 - 2 572 c.431A>G c.(430-432)aAc>aGc p.N144S KCNK17_uc003oop.3_Missense_Mutation_p.N144S NM_031460 NP_113648 Q96T54 KCNKH_HUMAN Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA. 144 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 CACCACGAGGTTGAGTGGGAT 0.632000 92 41 0 0 0.000680045 0 0 NLRP14 338323 broad.mit.edu 37 11 7063998 7063998 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:7063998C>T uc001mfb.1 + 3 1064 c.741C>T c.(739-741)atC>atT p.I247I NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 247 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTGAAGAAATCATGTACCAGC 0.433000 53 19 0 0 0.00121646 0 0 LILRA5 353514 broad.mit.edu 37 19 54822811 54822811 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:54822811G>A uc002qfe.3 - 4 705 c.585C>T c.(583-585)ttC>ttT p.F195F LILRA5_uc002qff.3_Silent_p.F183F|LILRA5_uc010yev.2_Silent_p.F195F|LILRA5_uc010yew.2_Silent_p.F183F|LILRA5_uc002qfg.1_Silent_p.F195F|LILRA5_uc002qfh.1_Silent_p.F183F NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 195 Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACAGGGCCTGGAACTGCCCAC 0.592000 33 8 0 0 0.000274275 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153309673 153309673 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:153309673G>A uc001fbo.3 - 7 992 c.927C>T c.(925-927)ttC>ttT p.F309F PGLYRP4_uc001fbp.3_Silent_p.F305F NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. 309 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTGCCCATGAAGGTAATGC 0.522000 71 16 0 0 0.000958276 0 0 KCNT2 343450 broad.mit.edu 37 1 196397273 196397273 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:196397273C>T uc001gtd.1 - 9 1006 c.946G>A c.(946-948)Gat>Aat p.D316N KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.D316N|KCNT2_uc001gtf.1_Missense_Mutation_p.D316N|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.D316N|KCNT2_uc009wyv.1_Missense_Mutation_p.D291N NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 316 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTTAAAAAATCCATAAGTAAA 0.378000 45 13 0 0 0.00185496 0 0 MORC1 27136 broad.mit.edu 37 3 108724118 108724118 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:108724118C>T uc003dxl.3 - 18 1899 c.1812G>A c.(1810-1812)ttG>ttA p.L604L MORC1_uc011bhn.2_Silent_p.L583L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 604 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATTCATGCTTCAAGTCATCGC 0.343000 35 16 0 0 0.000566183 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155931590 155931590 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:155931590C>T uc001fmu.2 - 14 1717 c.1462G>A c.(1462-1464)Gag>Aag p.E488K ARHGEF2_uc001fmr.2_Missense_Mutation_p.E416K|ARHGEF2_uc001fms.2_Missense_Mutation_p.E443K|ARHGEF2_uc001fmt.2_Missense_Mutation_p.E444K|ARHGEF2_uc010pgt.1_Missense_Mutation_p.E417K|ARHGEF2_uc010pgu.1_Missense_Mutation_p.E489K NM_004723 NP_004714 Q92974 ARHG2_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA. 444 PH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TTGTAGATCTCCTGCAGACGG 0.607000 93 24 0 0 0.00047179 0 0 ZNF414 84330 broad.mit.edu 37 19 8577592 8577592 + Missense_Mutation SNP T A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:8577592T>A uc002mke.4 - 2 438 c.320A>T c.(319-321)aAg>aTg p.K107M ZNF414_uc010dwf.3_Missense_Mutation_p.K96M|ZNF414_uc002mkf.3_Missense_Mutation_p.K107M NM_001146175 NP_001139647 Q96IQ9 ZN414_HUMAN Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA. 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 AGGGATTTGCTTCCCTGCAGG 0.602000 0 4 0 0 0.000602214 0 0 MARCH11 441061 broad.mit.edu 37 5 16067614 16067614 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:16067614G>A uc003jfo.2 - 3 1388 c.1175C>T c.(1174-1176)tCg>tTg p.S392L MARCH11_uc010itw.1_Missense_Mutation_p.S148L NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA. 392 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 AACCTCCCCCGAGCTGTTATC 0.463000 78 67 0 0 0.000781405 0 0 TMEM56 148534 broad.mit.edu 37 1 95657412 95657412 + Silent SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:95657412A>G uc021oqe.1 + 6 1156 c.780A>G c.(778-780)ggA>ggG p.G260G TMEM56_uc001drd.4_Intron|AK090700_uc001dre.1_Intron|TMEM56_uc001drb.3_Silent_p.G260G NM_001199679 NP_001186608 Q96MV1 TMM56_HUMAN Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA. 260 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TTCAGAATGGAAAACTTGATT 0.363000 21 11 0 0 0.000673444 0 0 MET 4233 broad.mit.edu 37 7 116409818 116409818 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:116409818G>A uc003vij.3 + 11 2890 c.2703G>A c.(2701-2703)ctG>ctA p.L901L MET_uc022akk.1_Silent_p.L901L|MET_uc010lkh.3_Silent_p.L919L|MET_uc011knj.2_Silent_p.L471L NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 901 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATGACCTGCTGAAATTGAACA 0.383000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 56 34 0 0 0.000953801 0 0 ELL2 22936 broad.mit.edu 37 5 95226829 95226829 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:95226829G>A uc003klr.4 - 9 2089 c.1739C>T c.(1738-1740)tCt>tTt p.S580F NM_012081 NP_036213 O00472 ELL2_HUMAN Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA. 580 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TGAGCCTGGAGAAAGGCGCTT 0.428000 66 39 0 0 0.0025221 0 0 VGLL3 389136 broad.mit.edu 37 3 87018250 87018250 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:87018250G>A uc003dqn.3 - 2 791 c.427C>T c.(427-429)Cgg>Tgg p.R143W NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AAACTATTCCGCTGGCTTGAG 0.478000 97 80 0 0 0.000781405 0 0 CTSL1 1514 broad.mit.edu 37 9 90345972 90345972 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:90345972C>T uc004api.3 + 7 1157 c.952C>T c.(952-954)Cgg>Tgg p.R318W CTSL1_uc004aph.3_Missense_Mutation_p.R318W|CTSL1_uc010mqh.3_Missense_Mutation_p.R136W|CTSL1_uc004apl.3_Missense_Mutation_p.R318W|CTSL1_uc004apk.3_Missense_Mutation_p.R318W NM_145918 NP_666023 P07711 CATL1_HUMAN Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA. 318 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1) 19 Glucagon recombinant(DB00040) GGCCAAAGACCGGAGAAACCA 0.522000 15 9 0 0 0.000673444 0 0 ASTN1 460 broad.mit.edu 37 1 176852083 176852083 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:176852083G>A uc001glc.3 - 19 3486 c.3274C>T c.(3274-3276)Cct>Tct p.P1092S ASTN1_uc001glb.1_Missense_Mutation_p.P1092S|ASTN1_uc001gld.1_Missense_Mutation_p.P1092S NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 1100 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ATTGCACAAGGAGACTTTGCT 0.493000 99 22 0 0 0.00229938 0 0 IKZF2 22807 broad.mit.edu 37 2 213872225 213872225 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:213872225G>A uc002vem.3 - 7 1609 c.1440C>T c.(1438-1440)ttC>ttT p.F480F IKZF2_uc010fuu.3_Silent_p.F335F|IKZF2_uc002vej.3_Silent_p.F427F|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.F406F|IKZF2_uc002vel.3_Silent_p.F401F|IKZF2_uc010fuw.3_Silent_p.F254F|IKZF2_uc010fux.3_Silent_p.F254F|IKZF2_uc010fuy.3_Silent_p.F408F|IKZF2_uc002ven.3_Silent_p.F454F|IKZF2_uc002vei.3_Silent_p.F258F NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA. 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CATGGTCTAGGAAAAGGACTC 0.512000 71 37 0 0 0.00148497 0 0 EPPK1 83481 broad.mit.edu 37 8 144940463 144940463 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:144940463G>A uc003zaa.1 - 0 6972 c.6959C>T c.(6958-6960)tCc>tTc p.S2320F NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2320 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGAAGAGGGAGATCTGCTG 0.706000 245 16 0 0 0.000566183 0 0 CFTR 1080 broad.mit.edu 37 7 117254679 117254679 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:117254679G>A uc003vjd.3 + 20 3512 c.3380G>A c.(3379-3381)gGa>gAa p.G1127E CFTR_uc011knq.2_Missense_Mutation_p.G533E NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1127 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding p.G1127A(2) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAAGGAGAAGGAAGAGTTGGT 0.398000 Cystic Fibrosis 68 14 0 0 0.000308642 0 0 METTL13 51603 broad.mit.edu 37 1 171761229 171761229 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:171761229C>T uc001ghz.3 + 5 1894 c.1547C>T c.(1546-1548)cCa>cTa p.P516L METTL13_uc001gia.3_Missense_Mutation_p.P430L|METTL13_uc001gib.3_Missense_Mutation_p.P360L|METTL13_uc010pml.2_Missense_Mutation_p.P515L|METTL13_uc001gic.1_5'Flank NM_015935 NP_055770 Q8N6R0 MTL13_HUMAN Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA. 516 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GATCATTTTCCAAAGTCCTGC 0.522000 123 24 0 0 0.000586117 0 0 TBX19 9095 broad.mit.edu 37 1 168260534 168260534 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:168260534C>T uc001gfl.3 + 1 391 c.340C>T c.(340-342)Cca>Tca p.P114S TBX19_uc001gfj.4_Missense_Mutation_p.P45S NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 114 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CGCTGGCAAGCCAGAGGTCTC 0.587000 103 22 0 0 0.00106085 0 0 ARAP2 116984 broad.mit.edu 37 4 36212304 36212304 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:36212304G>A uc003gsq.2 - 5 1533 c.1195C>T c.(1195-1197)Cga>Tga p.R399* ARAP2_uc003gsr.1_Nonsense_Mutation_p.R399* NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 399 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.R399*(2) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTGTCCTCTCGAGGTATCCAA 0.338000 123 44 0 0 0.000781405 0 0 MAPK6 5597 broad.mit.edu 37 15 52356250 52356250 + Nonsense_Mutation SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:52356250G>T uc002abp.3 + 5 2013 c.1219G>T c.(1219-1221)Gaa>Taa p.E407* NM_002748 NP_002739 Q16659 MK06_HUMAN Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA. 407 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) TGGAGATCGGGAAAAGTATCT 0.403000 40 12 9.05144e-12 3.00687e-11 0.00185496 1 0 OR5B3 441608 broad.mit.edu 37 11 58170745 58170745 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:58170745C>T uc010rkf.2 - 0 138 c.138G>A c.(136-138)ttG>ttA p.L46L NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L46*(2)|p.L46W(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCCAGAATATCAATACAATAA 0.418000 29 23 0 0 0.000720815 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135099033 135099033 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:135099033G>A uc010qvc.1 - 12 2263 c.1906C>T c.(1906-1908)Ctg>Ttg p.L636L TUBGCP2_uc001lmf.1_Silent_p.L201L|TUBGCP2_uc001lmg.1_Silent_p.L608L|TUBGCP2_uc010qvd.1_Silent_p.L478L|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc001lmh.1_Non-coding_Transcript NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA. 608 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CTCAGCGCCAGCTCCGTGGGG 0.637000 19 6 0 0 0.00116845 0 0 PLXNB2 23654 broad.mit.edu 37 22 50721224 50721224 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr22:50721224G>A uc003bkv.4 - 17 2996 c.2903C>T c.(2902-2904)tCc>tTc p.S968F PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 968 IPT/TIG 2. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity p.S967F(1) breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGGCACGGGGGACCCCCCGTA 0.662000 25 8 0 0 0.000274275 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020146 55020146 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:55020146G>A uc002lgn.3 + 0 426 c.69G>A c.(67-69)ctG>ctA p.L23L NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 23 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TCGCCCTGCTGATTTTATCGC 0.602000 42 14 0 0 0.00244969 0 0 SNAPC1 6617 broad.mit.edu 37 14 62245615 62245615 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:62245615C>T uc001xft.3 + 6 916 c.812C>T c.(811-813)tCa>tTa p.S271L NM_003082 NP_003073 Q16533 SNPC1_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA. 271 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) AAGGCCTTTTCAGTTGTCATA 0.279000 42 18 0 0 0.00188189 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118365033 118365033 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:118365033G>A uc001lco.1 + 11 1326 c.1308G>A c.(1306-1308)aaG>aaA p.K436K PNLIPRP1_uc001lcp.2_Silent_p.K436K NM_006229 NP_006220 P54315 LIPR1_HUMAN Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA. 436 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GTGCCACCAAGATCACTGTGC 0.413000 22 10 0 0 0.000978159 0 0 PSG8 440533 broad.mit.edu 37 19 43262160 43262160 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:43262160G>A uc002ouo.2 - 2 801 c.703C>T c.(703-705)Ctc>Ttc p.L235F PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.L235F|PSG8_uc010ein.3_Missense_Mutation_p.L113F|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 235 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TCACGGAGGAGATTCAGGGTG 0.527000 183 38 0 0 0.00148497 0 0 HEMK1 51409 broad.mit.edu 37 3 50614591 50614591 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:50614591C>T uc003dau.3 + 4 819 c.523C>T c.(523-525)Ctc>Ttc p.L175F HEMK1_uc003dav.3_Missense_Mutation_p.L175F NM_016173 NP_057257 Q9Y5R4 HEMK1_HUMAN Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA. 175 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) AGCCATCTCCCTCAGCCTGCT 0.627000 50 10 0 0 0.000673444 0 0 COL11A2 1302 broad.mit.edu 37 6 33132137 33132137 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:33132137G>A uc003ocx.1 - 64 5205 c.4977C>T c.(4975-4977)gcC>gcT p.A1659A COL11A2_uc010jul.1_Silent_p.A229A|COL11A2_uc003ocy.1_Silent_p.A1573A|COL11A2_uc003ocz.1_Silent_p.A1552A NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1659 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GACCGTCACGGGCTGCTCCAG 0.627000 17 4 0 0 0.000602214 0 0 AADACL3 126767 broad.mit.edu 37 1 12785271 12785271 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:12785271G>A uc009vnn.1 + 3 594 c.361G>A c.(361-363)Gat>Aat p.D121N AADACL3_uc001aug.1_Missense_Mutation_p.D51N NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA. 121 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GAAGTCCCTGGATGCATATGG 0.512000 81 35 0 0 0.000814825 0 0 DOCK11 139818 broad.mit.edu 37 X 117739215 117739215 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:117739215G>A uc004eqp.2 + 23 2640 c.2577G>A c.(2575-2577)atG>atA p.M859I DOCK11_uc004eqq.2_Missense_Mutation_p.M625I NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 859 DHR-1. blood coagulation cytosol GTP binding p.M859V(1) breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TGCATGCCATGGAGATCCAAG 0.328000 130 17 0 0 0.00074312 0 0 ZNF192 7745 broad.mit.edu 37 6 28119712 28119712 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:28119712C>T uc003nkn.1 + 3 833 c.649C>T c.(649-651)Cag>Tag p.Q217* ZNF192_uc010jqx.1_Nonsense_Mutation_p.Q217*|ZNF192_uc010jqy.1_Nonsense_Mutation_p.Q30*|ZNF192_uc011dkz.1_Nonsense_Mutation_p.Q30* NM_006298 NP_006289 Q15776 ZN192_HUMAN Homo sapiens zinc finger protein 192 (ZNF192), mRNA. 217 viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q217R(1)|p.Q217H(1) central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGCAGGGTTCCAGGTGAGTTG 0.493000 44 25 0 0 0.00127121 0 0 DSP 1832 broad.mit.edu 37 6 7584933 7584933 + Missense_Mutation SNP C A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:7584933C>A uc003mxp.1 + 23 7717 c.7438C>A c.(7438-7440)Cag>Aag p.Q2480K DSP_uc003mxq.1_Missense_Mutation_p.Q1881K|DSP_uc021yle.1_Missense_Mutation_p.Q2037K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2480 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AATGTCTGTTCAGGAGGCCTA 0.423000 83 49 3.89483e-19 1.3005e-18 0.000781405 1 0 OR2M3 127062 broad.mit.edu 37 1 248366917 248366917 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248366917C>T uc010pzg.2 + 0 548 c.548C>T c.(547-549)tCc>tTc p.S183F NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GACTTCCCCTCCCTACTAATC 0.413000 119 125 0 0 0.000781405 0 0 KIF5C 3800 broad.mit.edu 37 2 149806890 149806890 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:149806890G>A uc010zbu.2 + 9 1277 c.882G>A c.(880-882)ggG>ggA p.G294G KIF5C_uc002tws.1_Non-coding_Transcript NM_004522 NP_004513 O60282 KIF5C_HUMAN Homo sapiens kinesin family member 5C (KIF5C), mRNA. 294 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CTTTGGGTGGGAACTGCAGAA 0.473000 30 17 0 0 0.00074312 0 0 SLC16A9 220963 broad.mit.edu 37 10 61443926 61443926 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:61443926C>T uc010qig.1 - 1 573 c.124G>A c.(124-126)Gat>Aat p.D42N NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA. 42 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 CCAAAGGCATCCAGCCATTCT 0.478000 60 31 0 0 0.000814825 0 0 TMEM61 199964 broad.mit.edu 37 1 55452004 55452004 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:55452004G>A uc001cyd.3 + 1 524 c.250G>A c.(250-252)Ggc>Agc p.G84S NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN Homo sapiens transmembrane protein 61 (TMEM61), mRNA. 84 integral to membrane endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 GCTGCTCATTGGCCTGCTGTG 0.652000 105 41 0 0 0.00170553 0 0 KCNJ16 3773 broad.mit.edu 37 17 68129132 68129132 + Silent SNP C A A rs142625269 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:68129132C>A uc002jiq.3 + 2 1140 c.1000C>A c.(1000-1002)Cga>Aga p.R334R KCNJ16_uc002jin.3_Silent_p.R302R|KCNJ16_uc002jio.3_Silent_p.R302R|KCNJ16_uc002jip.3_Silent_p.R302R|KCNJ16_uc021uch.1_Silent_p.R302R NM_170742 NP_733938 Q9NPI9 IRK16_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA. 302 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CTATGTTCCCCGAGAAATTCT 0.393000 96 5 0.00198382 0.00647981 0.00198382 1 0 OR4N5 390437 broad.mit.edu 37 14 20612775 20612775 + Missense_Mutation SNP T G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:20612775T>G uc010tla.2 + 0 881 c.881T>G c.(880-882)gTg>gGg p.V294G NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AACCAGGAGGTGAAAGCTTCC 0.403000 36 22 0 0 0.000586117 0 0 ASRGL1 80150 broad.mit.edu 37 11 62124474 62124474 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:62124474C>T uc001nte.4 + 3 633 c.349C>T c.(349-351)Ctg>Ttg p.L117L ASRGL1_uc001ntf.4_Silent_p.L117L|ASRGL1_uc001ntg.4_5'UTR|ASRGL1_uc001nth.1_Non-coding_Transcript NM_025080 NP_079356 Q7L266 ASGL1_HUMAN Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA. 117 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) TCATTGCTTTCTGACTGACCA 0.398000 38 19 0 0 0.00278032 0 0 ANK2 287 broad.mit.edu 37 4 114275410 114275410 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:114275410C>T uc003ibe.4 + 37 5736 c.5636C>T c.(5635-5637)tCa>tTa p.S1879L ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S1894L NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1846 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGAAACACTCACCTGTATCA 0.443000 102 48 0 0 0.000781405 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184589218 184589218 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:184589218A>G uc003ivx.3 + 4 710 c.508A>G c.(508-510)Aag>Gag p.K170E TRAPPC11_uc003ivw.3_Missense_Mutation_p.K170E|TRAPPC11_uc010isc.3_Intron NM_021942 NP_068761 Q7Z392 CD041_HUMAN Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA. 170 ACTCTCAGGAAAGTCTTTGTT 0.358000 116 55 0 0 0.000781405 0 0 FKBP15 23307 broad.mit.edu 37 9 115930838 115930838 + Splice_Site SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:115930838T>C uc004bgs.2 - 27 3639 c.3486_splice c.e27-1 p.S1162_splice FKBP15_uc004bgr.2_Splice_Site_p.S599_splice|FKBP15_uc011lxc.1_Splice_Site_p.S743_splice NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 1162 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CCAGAGAGACTGAAGGAAAAT 0.498000 36 20 0 0 0.00229938 0 0 OR2T2 401992 broad.mit.edu 37 1 248616173 248616173 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:248616173C>T uc001iek.1 + 0 75 c.75C>T c.(73-75)ccC>ccT p.P25P NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F24L(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGCCTTCCCCGGGCTTCTCT 0.537000 304 44 0 0 0.000781405 0 0 EFCAB3 146779 broad.mit.edu 37 17 60469297 60469297 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:60469297A>C uc010wpc.2 + 5 493 c.422A>C c.(421-423)tAt>tCt p.Y141S EFCAB3_uc002izu.2_Missense_Mutation_p.Y89S NM_001144933 NP_001138405 Q8N7B9 EFCB3_HUMAN Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA. 89 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) CATGATGTCTATAATGAATTG 0.348000 84 44 0 0 0.000781405 0 0 UBR1 197131 broad.mit.edu 37 15 43363063 43363063 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:43363063C>T uc001zqq.3 - 4 655 c.589G>A c.(589-591)Gtg>Atg p.V197M UBR1_uc010udk.1_Missense_Mutation_p.V197M NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 197 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TATTTTATCACTGAAGGAAAT 0.378000 83 36 0 0 0.00058488 0 0 C7orf60 154743 broad.mit.edu 37 7 112462292 112462292 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:112462292A>G uc011kms.1 - 5 930 c.803T>C c.(802-804)gTt>gCt p.V268A C7orf60_uc003vgo.1_Missense_Mutation_p.V242A NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA. 242 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 GAGAGAGAAAACAACCACATG 0.408000 18 12 0 0 0.000978159 0 0 IGF1R 3480 broad.mit.edu 37 15 99459195 99459195 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:99459195C>T uc002bul.3 + 8 1881 c.1831C>T c.(1831-1833)Cct>Tct p.P611S IGF1R_uc010urq.2_Missense_Mutation_p.P611S|IGF1R_uc010bon.3_Missense_Mutation_p.P611S|IGF1R_uc010urr.1_Missense_Mutation_p.P61S NM_000875 NP_000866 P08069 IGF1R_HUMAN Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA. 611 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTCTCCAGTTCCTTCCATTCC 0.463000 134 52 0 0 0.000781405 0 0 CCDC140 151278 broad.mit.edu 37 2 223169005 223169005 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:223169005C>T uc021vxg.1 + 0 384 c.384C>T c.(382-384)ctC>ctT p.L128L CCDC140_uc002vnb.1_Silent_p.L128L NM_153038 NP_694583 Q96MF4 CC140_HUMAN Homo sapiens coiled-coil domain containing 140 (CCDC140), mRNA. 128 endometrium(4)|large_intestine(1)|prostate(1) 6 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACGTACTCTCCCGACCCCTC 0.532000 28 11 0 0 0.00244969 0 0 SORL1 6653 broad.mit.edu 37 11 121424794 121424794 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:121424794C>T uc001pxx.3 + 16 2544 c.2415C>T c.(2413-2415)tcC>tcT p.S805S NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 805 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGTATTGGTCCGACCTGGCCT 0.587000 17 16 0 0 0.000566183 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709568 128709568 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:128709568G>A uc001qeo.1 - 1 679 c.628C>T c.(628-630)Cta>Tta p.L210L KCNJ1_uc001qep.1_Silent_p.L191L|KCNJ1_uc001qeq.1_Silent_p.L191L|KCNJ1_uc001qer.1_Silent_p.L191L|KCNJ1_uc001qes.1_Silent_p.L191L|KCNJ1_uc021qsb.1_Silent_p.L191L NM_000220 NP_000211 P48048 IRK1_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA. 210 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity p.L209I(1) breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) ACTCGGATTAGGAGGCAAAGC 0.488000 96 25 0 0 0.00278032 0 0 TREML2 79865 broad.mit.edu 37 6 41162268 41162268 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:41162268G>A uc010jxm.1 - 2 859 c.680C>T c.(679-681)tCc>tTc p.S227F NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 227 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) AGTGGAGATGGATTCTGGGCC 0.627000 17 9 0 0 0.000442599 0 0 ITPR1 3708 broad.mit.edu 37 3 4847917 4847918 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:4847917_4847918GG>AA uc003bqc.3 + 53 7543_7544 c.7193_7194GG>AA c.(7192-7194)ggg>gAA p.G2398E ITPR1_uc021wsi.1_Missense_Mutation_p.G2365E|ITPR1_uc021wsj.1_Missense_Mutation_p.G2350E|ITPR1_uc011asu.2_Missense_Mutation_p.G376E|ITPR1_uc010hcc.2_Missense_Mutation_p.G133E|ITPR1_uc011asv.2_Missense_Mutation_p.G89E NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 2413 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGTGCCATGGGGCTCTTTGTCC 0.465000 73 15 0 0 6.4e-05 0 0 CFP 5199 broad.mit.edu 37 X 47487668 47487668 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:47487668C>T uc004dih.3 - 3 478 c.236G>A c.(235-237)cGa>cAa p.R79Q CFP_uc004dig.4_Missense_Mutation_p.R79Q|CFP_uc004dii.1_Missense_Mutation_p.R15Q|CFP_uc010nhu.2_Missense_Mutation_p.R79Q NM_002621 NP_002612 P27918 PROP_HUMAN Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA. 79 TSP type-1 1. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 CAGGGACCATCGTGGGGACCT 0.612000 5 5 0 0 0.00116845 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99032539 99032539 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:99032539G>A uc011kiw.2 - 2 534 c.474C>T c.(472-474)ttC>ttT p.F158F ATP5J2-PTCD1_uc003uqh.3_Silent_p.F109F NM_001198879 NP_001185808 B4DJ38 B4DJ38_HUMAN Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA. 158 GCAGGTTATGGAACTGGGCTG 0.557000 112 97 0 0 0.000781405 0 0 ZFHX3 463 broad.mit.edu 37 16 72993437 72993437 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:72993437G>A uc002fck.3 - 1 1281 c.608C>T c.(607-609)tCc>tTc p.S203F ZFHX3_uc002fcl.3_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 203 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTTCCCGAAGGATGAGGCTAT 0.612000 97 31 0 0 0.00178596 0 0 ATP2A3 489 broad.mit.edu 37 17 3854588 3854588 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:3854588G>A uc002fwy.2 - 4 593 c.420C>T c.(418-420)atC>atT p.I140I ATP2A3_uc002fwz.2_Silent_p.I140I|ATP2A3_uc002fxa.2_Silent_p.I140I|ATP2A3_uc002fxb.2_Silent_p.I140I|ATP2A3_uc002fxc.2_Silent_p.I140I|ATP2A3_uc002fxd.2_Silent_p.I140I|ATP2A3_uc002fwx.2_Silent_p.I140I NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 140 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCCGGGCACGGATCCTCTGCA 0.517000 24 15 0 0 0.00074312 0 0 POTEE 445582 broad.mit.edu 37 2 131976431 131976431 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:131976431C>T uc002tsn.2 + 0 508 c.456C>T c.(454-456)gtC>gtT p.V152V PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 152 ATP binding GGGGTAAAGTCCCCAGAAAGG 0.572000 89 22 0 0 0.00178596 0 0 DEFB114 245928 broad.mit.edu 37 6 49928133 49928133 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:49928133G>A uc011dwp.2 - 1 82 c.82C>T c.(82-84)Cgt>Tgt p.R28C NM_001037499 NP_001032588 Q30KQ6 DB114_HUMAN Homo sapiens defensin, beta 114 (DEFB114), mRNA. 28 defense response to bacterium extracellular region p.R28C(2) kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Lung NSC(77;0.042) TTGGTGCAACGATCAGCATTC 0.353000 30 15 0 0 0.000422831 0 0 C15orf33 196951 broad.mit.edu 37 15 49833925 49833925 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:49833925C>T uc001zxl.2 - 9 1120 c.826G>A c.(826-828)Gat>Aat p.D276N C15orf33_uc001zxm.3_Missense_Mutation_p.D242N NM_152647 NP_689860 Q96M60 CO033_HUMAN Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA. 276 endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 25 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TTAAATTCATCATTAAAGAGG 0.284000 131 30 0 0 0.00058488 0 0 CCDC19 25790 broad.mit.edu 37 1 159846476 159846476 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:159846476C>T uc001fui.3 - 9 1240 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.E323K|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.G407E NM_012337 NP_036469 Q9UL16 CCD19_HUMAN Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA. 408 mitochondrion|soluble fraction p.E408delE(2)|p.K407R(1) endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) CGCGCATTTTCCTTTTCCTTT 0.562000 45 21 0 0 0.00121646 0 0 BMPER 168667 broad.mit.edu 37 7 34094894 34094894 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:34094894A>C uc011kap.2 + 9 1280 c.906A>C c.(904-906)aaA>aaC p.K302N NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 302 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 AAGTATGCAAATTTGGCAACA 0.493000 151 29 0 0 0.00209593 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089128 220089128 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:220089128C>T uc001hlw.3 - 3 1332 c.1121G>A c.(1120-1122)gGa>gAa p.G374E RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.G129E|SLC30A10_uc001hlx.3_Missense_Mutation_p.G149E NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA. 374 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ATTGTGGATTCCCGCATGGTG 0.468000 81 71 0 0 0.000781405 0 0 TJP2 9414 broad.mit.edu 37 9 71849418 71849418 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:71849418C>T uc004ahe.3 + 11 2053 c.1735C>T c.(1735-1737)Cct>Tct p.P579S TJP2_uc011lrs.2_Missense_Mutation_p.P556S|TJP2_uc011lrt.1_Missense_Mutation_p.P556S|TJP2_uc004ahd.3_Missense_Mutation_p.P579S|TJP2_uc004ahf.3_Missense_Mutation_p.P579S|TJP2_uc011lru.2_Missense_Mutation_p.P583S|TJP2_uc011lrv.2_Missense_Mutation_p.P610S NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA. 579 PDZ 3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GTTAGAAATCCCTAAAGGTGA 0.443000 35 26 0 0 0.00178596 0 0 NMUR1 10316 broad.mit.edu 37 2 232390033 232390033 + Silent SNP G A A rs149953749 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:232390033G>A uc002vry.4 - 2 1112 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA. 334 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GCACGTGCTGGAAGGCCAGGT 0.632000 46 24 0 0 0.000586117 0 0 MLL3 58508 broad.mit.edu 37 7 151960106 151960106 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:151960106A>G uc003wla.3 - 8 1513 c.1294T>C c.(1294-1296)Tgc>Cgc p.C432R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 432 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTTACTTTGCATTTCCAGCCA 0.338000 N medulloblastoma 49 43 0 0 0.00170553 0 0 RPRD2 23248 broad.mit.edu 37 1 150430042 150430042 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150430042C>T uc009wlr.3 + 7 1350 c.1149C>T c.(1147-1149)atC>atT p.I383I RPRD2_uc010pcc.1_Silent_p.I357I|RPRD2_uc001eup.4_Silent_p.I357I NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 383 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGTCAAAAATCATTGGTATGT 0.393000 187 55 0 0 0.000781405 0 0 DENND2A 27147 broad.mit.edu 37 7 140301538 140301538 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:140301538C>T uc010lnk.3 - 2 1180 c.660G>A c.(658-660)tcG>tcA p.S220S DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.S220S|DENND2A_uc003vvw.3_Silent_p.S220S|DENND2A_uc003vvx.3_Silent_p.S220S NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 220 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CTTCCAGGTCCGAGGGGTGGA 0.637000 78 69 0 0 0.000781405 0 0 XIST 7503 broad.mit.edu 37 X 73072212 73072212 + RNA SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:73072212G>A uc004ebm.1 - 0 c.377C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. CCGCAGCCCCGATGGGCAAAA 0.403000 13 6 0 0 0.00116845 0 0 COL25A1 84570 broad.mit.edu 37 4 109895523 109895523 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:109895523C>T uc021xqo.1 - 7 548 c.492_splice c.e7+1 p.R164_splice COL25A1_uc003hze.1_Splice_Site_p.R164_splice|COL25A1_uc021xqp.1_Splice_Site_p.R164_splice|COL25A1_uc003hzg.3_Splice_Site_p.R164_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA. 164 Collagen-like 1. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CACAACTTACCCTAGGTCCCT 0.378000 42 24 0 0 0.00047179 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830105 7830105 + Silent SNP C A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:7830105C>A uc010dvt.3 + 2 283 c.165C>A c.(163-165)ctC>ctA p.L55L CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Silent_p.L55L|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Silent_p.L54L|CLEC4M_uc010xjx.2_Silent_p.L27L|CLEC4M_uc002mhz.3_Silent_p.L55L|CLEC4M_uc002mic.3_Silent_p.L27L|CLEC4M_uc002mia.3_Intron NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 55 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding p.L55F(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 TGCTGCAACTCCTCTCCTTCA 0.637000 58 23 3.65163e-15 1.21513e-14 0.00106085 1 0 BAZ2B 29994 broad.mit.edu 37 2 160206398 160206398 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:160206398G>A uc002uao.3 - 27 5089 c.4684C>T c.(4684-4686)Ctt>Ttt p.L1562F BAZ2B_uc002uap.3_Missense_Mutation_p.L1526F NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 1562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.L1562I(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CGTGGCAAAAGACTAAACCAT 0.448000 87 19 0 0 0.000958276 0 0 APOB 338 broad.mit.edu 37 2 21225135 21225135 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:21225135C>T uc002red.3 - 28 13287 c.13159G>A c.(13159-13161)Gaa>Aaa p.E4387K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 4387 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCAAAATATTCTTCACGAAGG 0.358000 507 206 0 0 0.000781405 0 0 EPS15L1 58513 broad.mit.edu 37 19 16488050 16488050 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:16488050G>A uc002ndx.3 - 21 2269 c.2263C>T c.(2263-2265)Cct>Tct p.P755S EPS15L1_uc002ndy.3_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc002ndz.1_Missense_Mutation_p.P755S|EPS15L1_uc010xpf.1_Missense_Mutation_p.P658S|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA. 755 15 X 3 AA repeats of D-P-F.|Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GAGGTGAAAGGGCCAGAAGGT 0.512000 OREG0025332 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 19 0 0 0.00121646 0 0 SRRM1 10250 broad.mit.edu 37 1 24996657 24996657 + Silent SNP C A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:24996657C>A uc001bjm.3 + 14 2475 c.2251C>A c.(2251-2253)Cga>Aga p.R751R SRRM1_uc010oel.2_Silent_p.R763R|SRRM1_uc009vri.1_Silent_p.R680R NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA. 751 Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|RNA binding|protein binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CTCATCCTCCCGATCTGTCTC 0.532000 142 6 0.00198382 0.00647981 0.00198382 1 0 ZZEF1 23140 broad.mit.edu 37 17 3919720 3919720 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:3919720A>C uc002fxe.3 - 48 8106 c.8042T>G c.(8041-8043)cTg>cGg p.L2681R ZZEF1_uc002fxg.1_Missense_Mutation_p.L2R NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 2681 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CATGGTCCCCAGCATGTCCTC 0.567000 42 9 0 0 0.000442599 0 0 NLRP3 114548 broad.mit.edu 37 1 247587607 247587607 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247587607C>T uc001icr.3 + 4 1000 c.862C>T c.(862-864)Cac>Tac p.H288Y NLRP3_uc001ics.3_Missense_Mutation_p.H288Y|NLRP3_uc001icu.3_Missense_Mutation_p.H288Y|NLRP3_uc001icw.3_Missense_Mutation_p.H288Y|NLRP3_uc001icv.3_Missense_Mutation_p.H288Y|NLRP3_uc010pyw.2_Missense_Mutation_p.H286Y|NLRP3_uc001ict.1_Missense_Mutation_p.H286Y NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 288 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCCACCCATCCACAAGATCGT 0.552000 53 33 0 0 0.00058488 0 0 CCDC71 64925 broad.mit.edu 37 3 49200301 49200301 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:49200301G>A uc003cwg.4 - 1 1479 c.1341C>T c.(1339-1341)atC>atT p.I447I CCDC71_uc021wxs.1_Silent_p.I447I NM_022903 NP_075054 Q8IV32 CCD71_HUMAN Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA. 447 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCACGCGGAGGATCCGCTGAG 0.557000 17 6 0 0 0.00198382 0 0 FAT3 120114 broad.mit.edu 37 11 92531999 92531999 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:92531999C>T uc001pdj.4 + 8 5837 c.5820C>T c.(5818-5820)acC>acT p.T1940T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1940 Cadherin 17. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAGTACTTACCATAAAAAACA 0.423000 TCGA Ovarian(4;0.039) 271 145 0 0 0.000781405 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973464 46973464 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:46973464C>T uc002peq.4 - 1 1135 c.829G>A c.(829-831)Ggt>Agt p.G277S PNMAL1_uc002per.4_Missense_Mutation_p.G277S NM_018215 NP_060685 Q86V59 PNML1_HUMAN Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA. 277 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TCAGCATCACCCACCTCAGGA 0.507000 105 27 0 0 0.000720815 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130332616 130332616 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:130332616G>A uc010scd.2 + 3 1483 c.1483G>A c.(1483-1485)Gag>Aag p.E495K NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 495 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CAGCTGTGGCGAGGGCAAGCT 0.642000 63 24 0 0 0.000878237 0 0 IL1F10 84639 broad.mit.edu 37 2 113832364 113832364 + Silent SNP C T T rs34320972 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:113832364C>T uc002tiu.3 + 3 258 c.183C>T c.(181-183)atC>atT p.I61I IL1F10_uc002tiv.3_Silent_p.I61I|IL1F10_uc002tiw.3_Silent_p.I53I NM_173161 NP_775184 Q8WWZ1 IL1FA_HUMAN Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA. 61 extracellular space cytokine activity|interleukin-1 receptor antagonist activity p.I61I(4) endometrium(1)|lung(6)|ovary(1) 8 TCCTGGGGATCCAGGGAGGGA 0.582000 46 25 0 0 0.000878237 0 0 DENND3 22898 broad.mit.edu 37 8 142204174 142204174 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:142204174G>A uc003yvy.3 + 22 3717 c.3439G>A c.(3439-3441)Ggg>Agg p.G1147R DENND3_uc010mep.3_Missense_Mutation_p.G1108R|DENND3_uc003ywa.1_3'UTR|DENND3_uc003ywb.3_Missense_Mutation_p.G197R NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 1147 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AACACCCAAGGGGAAAATCTA 0.627000 62 21 0 0 0.00047179 0 0 HOXB2 3212 broad.mit.edu 37 17 46621972 46621972 + Missense_Mutation SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:46621972T>C uc002inm.3 - 0 422 c.302A>G c.(301-303)aAg>aGg p.K101R NM_002145 NP_002136 P14652 HXB2_HUMAN Homo sapiens homeobox B2 (HOXB2), mRNA. 101 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 GGCGGATTTCTTCTCTTTCAT 0.692000 59 4 0 0 0.000602214 0 0 CPB1 1360 broad.mit.edu 37 3 148577630 148577630 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:148577630G>A uc003ewl.3 + 10 1118 c.1095G>A c.(1093-1095)tgG>tgA p.W365* NM_001871 NP_001862 P15086 CBPB1_HUMAN Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA. 365 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTGACGACTGGGCTTATGACC 0.448000 56 24 0 0 0.00047179 0 0 NTF3 4908 broad.mit.edu 37 12 5603469 5603469 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:5603469C>T uc001qnl.4 + 0 172 c.89C>T c.(88-90)tCg>tTg p.S30L NTF3_uc001qnk.4_Missense_Mutation_p.S43L NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 30 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CCAGAAGACTCGCTCAATTCC 0.428000 70 28 0 0 0.00127121 0 0 DISP1 84976 broad.mit.edu 37 1 223178084 223178084 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:223178084C>T uc001hnu.2 + 9 3671 c.3345C>T c.(3343-3345)atC>atT p.I1115I NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 1115 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGATGCTCATCATGTGTATCA 0.542000 447 385 0 0 0.000781405 0 0 SIKE1 80143 broad.mit.edu 37 1 115323135 115323135 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:115323135G>A uc001efp.4 - 0 174 c.94C>T c.(94-96)Cag>Tag p.Q32* SIKE1_uc001efo.4_Nonsense_Mutation_p.Q32* NM_001102396 NP_001095866 Q9BRV8 SIKE1_HUMAN Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 1, mRNA. 32 cytosol protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 GCCGCCGACTGATCCACCAGC 0.657000 29 14 0 0 0.00244969 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030496 10030496 + Missense_Mutation SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:10030496G>T uc002wno.3 + 6 1672 c.1279G>T c.(1279-1281)Ggg>Tgg p.G427W LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.G427W|ANKRD5_uc010gbz.3_Missense_Mutation_p.G238W NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 427 calcium ion binding breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 AGGAAAGAAAGGGAAATTTGT 0.418000 53 21 7.41877e-09 2.46031e-08 0.00188189 1 0 PTPRK 5796 broad.mit.edu 37 6 128294914 128294914 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:128294914C>T uc003qbk.3 - 27 4392 c.4025G>A c.(4024-4026)cGa>cAa p.R1342Q PTPRK_uc010kfc.3_Missense_Mutation_p.R1349Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1343Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1365Q NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1342 Tyrosine-protein phosphatase 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AGGCACTTCTCGATGAGAAGC 0.478000 65 21 0 0 0.00152264 0 0 LTBP2 4053 broad.mit.edu 37 14 75052711 75052711 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:75052711C>T uc001xqa.3 - 2 1063 c.676G>A c.(676-678)Gaa>Aaa p.E226K NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 226 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGGTCAAATTCCTCATCGGGA 0.682000 10 14 0 0 0.000422831 0 0 OBSCN 84033 broad.mit.edu 37 1 228494858 228494858 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:228494858C>T uc009xez.1 + 44 12227 c.12183C>T c.(12181-12183)ctC>ctT p.L4061L OBSCN_uc001hsn.3_Silent_p.L4061L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4061 Ig-like 41. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGGCCAGCCTCTCTGTCCGTG 0.632000 75 14 0 0 0.000422831 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912595 29912596 + Missense_Mutation DNP AG GA GA TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:29912595_29912596AG>GA uc002dut.3 + 0 449_450 c.303_304AG>GA c.(301-306)caagac>caGAac p.D102N BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 102 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 TGGGCTCCCAAGACATGCAGGC 0.698000 61 18 0 0 6.4e-05 0 0 GGT1 2678 broad.mit.edu 37 22 25019805 25019805 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr22:25019805C>T uc003aan.1 + 10 1429 c.942C>T c.(940-942)caC>caT p.H314H GGT1_uc003aas.1_Silent_p.H314H|GGT1_uc003aat.1_Silent_p.H314H|GGT1_uc003aau.2_Silent_p.H314H|GGT1_uc003aav.2_Silent_p.H314H|GGT1_uc003aaw.2_Silent_p.H314H|GGT1_uc003aax.2_Silent_p.H314H NM_013430 NP_038347 P19440 GGT1_HUMAN Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA. 314 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TGACGTACCACCGCATCGTAG 0.617000 18 9 0 0 0.00136819 0 0 NAALAD2 10003 broad.mit.edu 37 11 89911136 89911136 + Missense_Mutation SNP G A A rs150474449 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:89911136G>A uc001pdf.4 + 15 1818 c.1709G>A c.(1708-1710)cGa>cAa p.R570Q NAALAD2_uc009yvx.3_Missense_Mutation_p.R537Q|NAALAD2_uc009yvy.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 570 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GCTCAATTACGAGGAGCACTG 0.348000 36 12 0 0 0.00136819 0 0 DNAH8 1769 broad.mit.edu 37 6 38875794 38875794 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38875794G>A uc021yzh.1 + 63 9520 c.9411G>A c.(9409-9411)atG>atA p.M3137I DNAH8_uc003ooe.2_Missense_Mutation_p.M2920I|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTTCAGTGATGAAGAGGGAGC 0.398000 63 23 0 0 0.00047179 0 0 ZNF711 7552 broad.mit.edu 37 X 84525120 84525120 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:84525120G>A uc004eeq.3 + 8 2100 c.1214G>A c.(1213-1215)aGg>aAg p.R405K ZNF711_uc004eep.3_Missense_Mutation_p.R359K|ZNF711_uc004eeo.3_Missense_Mutation_p.R359K|ZNF711_uc011mqy.1_5'UTR NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 359 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GCCAAAAAGAGGAGAAGGGGA 0.348000 28 7 0 0 0.00198382 0 0 OR4S2 219431 broad.mit.edu 37 11 55418857 55418857 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:55418857C>T uc001nhs.1 + 0 478 c.478C>T c.(478-480)Ctg>Ttg p.L160L NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) CCAAGTGGCTCTGGTAGTCCA 0.433000 37 63 0 0 0.000781405 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605400 140605400 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:140605400C>T uc003ljb.3 + 0 2323 c.2323C>T c.(2323-2325)Caa>Taa p.Q775* NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 775 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCAATTTTCAAGTTCATGA 0.403000 40 16 0 0 0.000566183 0 0 HECA 51696 broad.mit.edu 37 6 139488217 139488217 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:139488217C>T uc003qin.3 + 1 1353 c.1068C>T c.(1066-1068)atC>atT p.I356I NM_016217 NP_057301 Q9UBI9 HDC_HUMAN Homo sapiens headcase homolog (Drosophila) (HECA), mRNA. 356 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) TCACTCACATCCCCAGGCATA 0.607000 35 15 0 0 0.000422831 0 0 FCGBP 8857 broad.mit.edu 37 19 40408704 40408704 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40408704G>A uc002omp.4 - 7 4143 c.4135C>T c.(4135-4137)Ccc>Tcc p.P1379S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1379 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TAGTTTCCGGGGACGGTGACC 0.582000 54 34 0 0 0.00058488 0 0 ATP1A3 478 broad.mit.edu 37 19 42479928 42479928 + Missense_Mutation SNP C G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:42479928C>G uc002osh.3 - 15 2270 c.2116G>C c.(2116-2118)Ggg>Cgg p.G706R ATP1A3_uc010xwf.2_Missense_Mutation_p.G717R|ATP1A3_uc010xwg.2_Missense_Mutation_p.G676R|ATP1A3_uc002osg.3_Missense_Mutation_p.G706R|ATP1A3_uc010xwh.2_Missense_Mutation_p.G719R P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 706 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 ACACCATCCCCGGTCACAGCC 0.617000 63 12 0 0 0.00136819 0 0 KRT9 3857 broad.mit.edu 37 17 39724582 39724582 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:39724582A>C uc002hxe.4 - 5 1292 c.1226T>G c.(1225-1227)cTg>cGg p.L409R JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 409 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GATCATCTGCAGCTGGCCACA 0.512000 62 8 0 0 0.000274275 0 0 THRB 7068 broad.mit.edu 37 3 24231772 24231772 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:24231772C>T uc003ccz.4 - 5 596 c.76G>A c.(76-78)Gac>Aac p.D26N THRB_uc010hfe.3_Missense_Mutation_p.D26N|THRB_uc003ccy.4_Missense_Mutation_p.D26N|THRB_uc003ccx.4_Missense_Mutation_p.D26N|THRB_uc003cdc.3_Missense_Mutation_p.D21N|THRB_uc003cdd.3_Missense_Mutation_p.D21N|THRB_uc003cde.1_Missense_Mutation_p.D21N|THRB_uc021wuc.1_Missense_Mutation_p.D21N NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 26 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding p.D26N(2) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) AGCTTCCAGTCGTGTTCTCGG 0.493000 83 17 0 0 0.00074312 0 0 PKHD1 5314 broad.mit.edu 37 6 51524233 51524233 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:51524233G>A uc003pah.1 - 60 10967 c.10691C>T c.(10690-10692)gCc>gTc p.A3564V NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3564 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACAGTGAGGGCCAAGTGAAT 0.408000 53 13 0 0 0.00136819 0 0 BAGE1 0 broad.mit.edu 37 GL000237.1 871 871 + RNA SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrGL000237.1:871C>T uc011mgu.1 - 1 c.347G>A Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced. tctccatcaccgtggctgcca 0.582000 17 3 0 0 0.00024832 0 0 SALL1 6299 broad.mit.edu 37 16 51175508 51175508 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:51175508G>A uc021tif.1 - 1 656 c.334C>T c.(334-336)Cag>Tag p.Q112* SALL1_uc021tid.1_Nonsense_Mutation_p.Q112*|SALL1_uc021tie.1_Nonsense_Mutation_p.Q209*|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 209 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D112N(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGGAGAACTGGGCCACCGCC 0.607000 73 34 0 0 0.000953801 0 0 KDR 3791 broad.mit.edu 37 4 55984967 55984967 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:55984967C>T uc003has.3 - 3 464 c.162_splice c.e3-1 p.R54_splice KDR_uc003hat.1_Splice_Site_p.R54_splice|KDR_uc011bzx.2_Splice_Site_p.R54_splice NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 54 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CCCTCTGTCCCCTGAAAAATT 0.428000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 48 22 0 0 0.00047179 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036450 21036450 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:21036450G>A uc010sil.2 + 10 1661 c.1596G>A c.(1594-1596)agG>agA p.R532R SLCO1B3_uc001rek.3_Silent_p.R532R|SLCO1B3_uc001rel.3_Silent_p.R532R|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 532 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTTGTACAAGGAAATTTTTCA 0.373000 53 26 0 0 0.00106085 0 0 USH1C 10083 broad.mit.edu 37 11 17542914 17542914 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:17542914C>T uc001mnf.3 - 12 1173 c.1064G>A c.(1063-1065)aGa>aAa p.R355K USH1C_uc001mne.3_Missense_Mutation_p.R355K|USH1C_uc009yhb.3_Missense_Mutation_p.R336K|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.R319K NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 355 G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CTTCCGGTATCTCTCATTTTC 0.502000 76 39 0 0 0.00195071 0 0 ADAM2 2515 broad.mit.edu 37 8 39624428 39624428 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:39624428C>T uc003xnj.3 - 13 1521 c.1446G>A c.(1444-1446)tgG>tgA p.W482* ADAM2_uc003xnk.3_Nonsense_Mutation_p.W463*|ADAM2_uc011lck.2_Nonsense_Mutation_p.W482*|ADAM2_uc003xnl.3_Nonsense_Mutation_p.W356* NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 482 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTATACAGATCCATTGATTCA 0.388000 26 32 0 0 0.00283554 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110431368 110431368 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:110431368G>A uc003yne.3 + 21 2507 c.2403G>A c.(2401-2403)acG>acA p.T801T NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 801 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCGTAAGAACGAAATACACTG 0.373000 HNSCC(38;0.096) 35 14 0 0 0.000566183 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785202 209785202 + Silent SNP G A A rs147599953 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:209785202G>A uc001hhd.3 + 10 1083 c.981G>A c.(979-981)ccG>ccA p.P327P CAMK1G_uc001hhf.4_Silent_p.P327P|CAMK1G_uc001hhe.3_Silent_p.P327P NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 327 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) TGCACAGCCCGGGCGTCCGCC 0.597000 89 26 0 0 0.000586117 0 0 THSD7B 80731 broad.mit.edu 37 2 138425350 138425350 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:138425350G>A uc002tva.1 + 25 4568 c.4568G>A c.(4567-4569)cGa>cAa p.R1523Q NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.R1556Q(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACAGATGGCCGAGTAAAAATT 0.378000 9 5 0 0 0.000602214 0 0 ZFP64 55734 broad.mit.edu 37 20 50769728 50769728 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:50769728G>A uc002xwl.3 - 5 1352 c.1003C>T c.(1003-1005)Cgc>Tgc p.R335C ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.R333C|ZFP64_uc002xwn.3_Missense_Mutation_p.R281C NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA. 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TGGTGCACGCGGCTGTGCTTC 0.592000 64 31 0 0 0.00209593 0 0 ANK3 288 broad.mit.edu 37 10 61868658 61868658 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:61868658G>A uc001jky.3 - 26 3441 c.3103C>T c.(3103-3105)Ccc>Tcc p.P1035S ANK3_uc001jkw.3_Missense_Mutation_p.P169S|ANK3_uc009xpa.3_Missense_Mutation_p.P169S|ANK3_uc001jkx.3_Missense_Mutation_p.P213S|ANK3_uc010qih.2_Missense_Mutation_p.P1036S|ANK3_uc001jkz.4_Missense_Mutation_p.P1029S|ANK3_uc001jla.1_Missense_Mutation_p.P101S|ANK3_uc001jlb.1_Missense_Mutation_p.P553S NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1035 ZU5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.P1035S(2) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCCACCATGGGGGGTGGGTTG 0.502000 33 23 0 0 0.00278032 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092879 151092879 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:151092879C>T uc022cgv.1 + 0 743 c.743C>T c.(742-744)aCc>aTc p.T248I MAGEA4_uc004fez.3_Missense_Mutation_p.T248I|MAGEA4_uc004ffa.3_Missense_Mutation_p.T248I|MAGEA4_uc004ffb.3_Missense_Mutation_p.T248I|MAGEA4_uc022cgu.1_Missense_Mutation_p.T276I|MAGEA4_uc004ffc.3_Missense_Mutation_p.T248I|MAGEA4_uc004ffd.3_Missense_Mutation_p.T248I NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 248 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) AAACTGCTCACCCAAGATTGG 0.587000 76 20 0 0 0.00121646 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359494 70359494 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:70359494C>T uc003hek.4 - 1 834 c.787G>A c.(787-789)Gat>Aat p.D263N UGT2B4_uc011cap.2_Missense_Mutation_p.D127N|UGT2B4_uc003hel.4_Missense_Mutation_p.D263N NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 263 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AATTGAAAATCCCAGTAGTTT 0.418000 60 19 0 0 0.00074312 0 0 SIGIRR 59307 broad.mit.edu 37 11 408110 408110 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:408110C>T uc001lpg.3 - 2 456 c.303G>A c.(301-303)caG>caA p.Q101Q SIGIRR_uc001lpd.2_Silent_p.Q101Q|SIGIRR_uc001lpf.2_Silent_p.Q101Q|SIGIRR_uc001lpe.1_Silent_p.Q101Q Q6IA17 SIGIR_HUMAN Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA. 101 Ig-like C2-type. acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity p.I100M(2) cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCTGATGTTCTGGATGGAGC 0.582000 76 14 0 0 0.000308642 0 0 OR10H5 284433 broad.mit.edu 37 19 15905608 15905608 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:15905608C>T uc010xos.2 + 0 750 c.750C>T c.(748-750)gtC>gtT p.V250V NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTGTGGTGGTCGTGCACTATG 0.562000 20 6 0 0 0.000274275 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325833 79325833 + Missense_Mutation SNP C G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:79325833C>G uc010mpk.3 - 7 1481 c.1357G>C c.(1357-1359)Gga>Cga p.G453R PRUNE2_uc022bih.1_Missense_Mutation_p.G275R NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 453 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCACCTTCTCCCACGGGGCTG 0.597000 10 13 0 0 0.000308642 0 0 DLG1 1739 broad.mit.edu 37 3 196792579 196792579 + Splice_Site SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:196792579G>A uc010ial.3 - 22 2492 c.2233_splice c.e22+1 p.H745_splice DLG1_uc011bub.2_Splice_Site_p.H641_splice|DLG1_uc011buc.2_Splice_Site_p.H629_splice|DLG1_uc011bud.2_Splice_Site_p.H428_splice|DLG1_uc003fxo.4_Splice_Site_p.H745_splice|DLG1_uc003fxn.4_Splice_Site_p.H767_splice|DLG1_uc011bue.2_Splice_Site_p.H733_splice NM_001098424 NP_001091894 Q12959 DLG1_HUMAN Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA. 745 Guanylate kinase-like. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTTTACTTACGAGGAACACAG 0.328000 32 18 0 0 0.00121646 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792257 137792257 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:137792257C>T uc003vtz.3 + 6 873 c.786C>T c.(784-786)ttC>ttT p.F262F AKR1D1_uc011kqf.2_Silent_p.F221F|AKR1D1_uc011kqe.1_Silent_p.F262F|AKR1D1_uc010lmy.1_Non-coding_Transcript NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 262 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding p.R261C(2) endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TTTTGCGTTTCAACATCCAGC 0.378000 78 20 0 0 0.00229938 0 0 SAMD7 344658 broad.mit.edu 37 3 169656266 169656266 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:169656266G>A uc003fgd.3 + 8 1580 c.1313G>A c.(1312-1314)gGa>gAa p.G438E SAMD7_uc003fge.3_Missense_Mutation_p.G438E|SAMD7_uc011bpo.2_Missense_Mutation_p.G339E NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 438 p.G438G(1) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) ATTCCTAAAGGAATTGAGCGA 0.408000 17 9 0 0 0.00136819 0 0 STBD1 8987 broad.mit.edu 37 4 77231024 77231024 + Missense_Mutation SNP T G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:77231024T>G uc003hka.3 + 1 1692 c.948T>G c.(946-948)gaT>gaG p.D316E FAM47E_uc003hjy.3_3'UTR|FAM47E_uc011cbv.2_3'UTR|STBD1_uc011cbw.2_Missense_Mutation_p.D167E NM_003943 NP_003934 O95210 STBD1_HUMAN Homo sapiens starch binding domain 1 (STBD1), mRNA. 316 CBM20. carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding p.A315V(1) endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Lung(101;0.196) TGCCTGCAGATACAGTGGTGG 0.473000 73 17 0 0 0.00074312 0 0 BLK 640 broad.mit.edu 37 8 11412309 11412309 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:11412309A>G uc003wty.3 + 6 1111 c.530A>G c.(529-531)tAt>tGt p.Y177C NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 177 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ATCAAGCACTATAAGATCCGC 0.567000 43 20 0 0 0.00278032 0 0 MAP3K10 4294 broad.mit.edu 37 19 40719021 40719021 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:40719021C>T uc002ona.3 + 7 2051 c.1763C>T c.(1762-1764)tCa>tTa p.S588L NM_002446 NP_002437 Q02779 M3K10_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA. 588 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 CAGTGGTCATCAAGTGCCCCC 0.622000 9 5 0 0 0.00116845 0 0 AMPD3 272 broad.mit.edu 37 11 10500204 10500204 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:10500204C>T uc001min.1 + 2 725 c.380C>T c.(379-381)tCc>tTc p.S127F AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.S118F|AMPD3_uc001mio.1_Missense_Mutation_p.S118F|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.S125F|AMPD3_uc009yfy.2_Missense_Mutation_p.S118F NM_000480 NP_001165902 Q01432 AMPD3_HUMAN Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA. 118 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GGAGCCACTTCCCTGCCCACG 0.617000 51 33 0 0 0.000814825 0 0 DNAH7 56171 broad.mit.edu 37 2 196741347 196741347 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:196741347G>A uc002utj.4 - 36 6139 c.6038C>T c.(6037-6039)gCt>gTt p.A2013V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2013 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGAGTTTGAGCTGCTGTAGT 0.323000 44 19 0 0 0.00152264 0 0 DNAH7 56171 broad.mit.edu 37 2 196726449 196726449 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:196726449C>T uc002utj.4 - 41 7829 c.7728G>A c.(7726-7728)aaG>aaA p.K2576K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2576 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCTTCTTTTCTTTTCTAACA 0.284000 35 10 0 0 0.000673444 0 0 LRRC17 10234 broad.mit.edu 37 7 102579980 102579980 + Missense_Mutation SNP T G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:102579980T>G uc003vau.3 + 2 1265 c.876T>G c.(874-876)caT>caG p.H292Q FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.H292Q NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA. 292 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 AAGATGTTCATGAGCTGAAGA 0.403000 146 34 0 0 0.000814825 0 0 LPAR1 1902 broad.mit.edu 37 9 113703966 113703966 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:113703966G>A uc011lwo.2 - 1 533 c.531C>T c.(529-531)atC>atT p.I177I LPAR1_uc004bfa.3_Silent_p.I176I|LPAR1_uc011lwm.2_Silent_p.I177I|LPAR1_uc004bfc.3_Silent_p.I176I|LPAR1_uc011lwn.2_Silent_p.I158I|LPAR1_uc004bfb.3_Silent_p.I176I|LPAR1_uc010mub.3_Silent_p.I176I NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 176 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane p.V177I(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 CACCCATAACGATGGCCATAG 0.498000 32 26 0 0 0.000720815 0 0 LRRC33 375387 broad.mit.edu 37 3 196381472 196381472 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:196381472A>G uc003fwv.3 + 1 166 c.62A>G c.(61-63)aAc>aGc p.N21S NM_198565 NP_940967 Q86YC3 LRC33_HUMAN Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA. 21 integral to membrane NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3) 40 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGCTGGAGGAACAGAAGCGGA 0.577000 49 18 0 0 0.000958276 0 0 UBXN4 23190 broad.mit.edu 37 2 136505928 136505928 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:136505928C>T uc002tur.3 + 1 485 c.174C>T c.(172-174)atC>atT p.I58I NM_014607 NP_055422 Q92575 UBXN4_HUMAN Homo sapiens UBX domain protein 4 (UBXN4), mRNA. 58 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 CTATTAAAATCGATACCAAAA 0.289000 34 7 0 0 0.00198382 0 0 NRAP 4892 broad.mit.edu 37 10 115365969 115365969 + Silent SNP G T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:115365969G>T uc001lal.3 - 32 3939 c.3775C>A c.(3775-3777)Cga>Aga p.R1259R NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Silent_p.R1259R|NRAP_uc001lak.3_Silent_p.R1224R NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 1259 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTTTTTGCTCGGATGAACTCG 0.433000 54 6 0.00198382 0.00647981 0.00198382 1 0 CARD11 84433 broad.mit.edu 37 7 2952944 2952944 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:2952944A>G uc003smv.3 - 21 3330 c.2996T>C c.(2995-2997)aTg>aCg p.M999T NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 999 Guanylate kinase-like. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGTGAACTCCATGGCACCTCC 0.662000 Mis DLBCL 107 24 0 0 0.00047179 0 0 OR10A7 121364 broad.mit.edu 37 12 55614962 55614962 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:55614962G>A uc010spf.2 + 0 154 c.154G>A c.(154-156)Gat>Aat p.D52N NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V51V(1) endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TACCAGTGTGGATCTCGCACT 0.393000 144 61 0 0 0.000781405 0 0 SYNGR4 23546 broad.mit.edu 37 19 48879000 48879000 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:48879000C>T uc002piz.3 + 3 713 c.462C>T c.(460-462)atC>atT p.I154I NM_012451 NP_036583 O95473 SNG4_HUMAN Homo sapiens synaptogyrin 4 (SYNGR4), mRNA. 154 MARVEL. integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) TCTTCTCCATCCTTGTCTGGG 0.602000 47 17 0 0 0.00121646 0 0 CDHR2 54825 broad.mit.edu 37 5 176002198 176002198 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:176002198G>A uc021yie.1 + 7 883 c.609G>A c.(607-609)gaG>gaA p.E203E CDHR2_uc003mem.2_Silent_p.E203E|CDHR2_uc003men.1_Silent_p.E203E NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 203 Cadherin 2. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 ACCAGCTGGAGCTGAAGGCCT 0.637000 42 39 0 0 0.0025221 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635657 141635657 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:141635657C>T uc003vwv.1 - 4 499 c.302G>A c.(301-303)gGa>gAa p.G101E CLEC5A_uc011krm.1_Missense_Mutation_p.G78E|CLEC5A_uc003vww.1_Missense_Mutation_p.G101E|CLEC5A_uc010lnq.1_Missense_Mutation_p.G78E|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 101 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GGATCCTTTTCCTTTGCAAAA 0.443000 76 48 0 0 0.000781405 0 0 ABCC1 4363 broad.mit.edu 37 16 16215894 16215894 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:16215894C>T uc010bvi.3 + 23 3628 c.3453C>T c.(3451-3453)gtC>gtT p.V1151V ABCC1_uc010bvj.3_Silent_p.V1092V|ABCC1_uc010bvk.3_Silent_p.V1095V|ABCC1_uc010bvl.3_Silent_p.V1151V|ABCC1_uc010bvm.3_Silent_p.V1036V|ABCC1_uc002del.4_Silent_p.V1045V|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.V117V NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 1151 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCTCCCCGGTCTATTCCCATT 0.597000 41 13 0 0 0.00136819 0 0 GPR98 84059 broad.mit.edu 37 5 89979723 89979723 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:89979723G>A uc003kju.3 + 27 6081 c.5985G>A c.(5983-5985)caG>caA p.Q1995Q GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1995 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAGCAACCCAGAACATCACAC 0.368000 6 11 0 0 0.000978159 0 0 ZNF280C 55609 broad.mit.edu 37 X 129349848 129349848 + Silent SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:129349848A>G uc004evm.3 - 13 1958 c.1755T>C c.(1753-1755)gcT>gcC p.A585A ZNF280C_uc010nrf.2_Silent_p.A536A NM_017666 NP_060136 Q8ND82 Z280C_HUMAN Homo sapiens zinc finger protein 280C (ZNF280C), mRNA. 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTTTGGACTTAGCTATACGTC 0.373000 195 38 0 0 0.00128727 0 0 OR10J1 26476 broad.mit.edu 37 1 159410507 159410507 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:159410507C>T uc010piv.2 + 0 996 c.959C>T c.(958-960)tCc>tTc p.S320F BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 320 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GGGAAGTTTTCCTGACCATGT 0.493000 62 23 0 0 0.00278032 0 0 HNF1B 6928 broad.mit.edu 37 17 36091655 36091655 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:36091655G>A uc002hok.4 - 3 1197 c.976C>T c.(976-978)Ctg>Ttg p.L326L HNF1B_uc021tvu.1_Silent_p.L96L|HNF1B_uc010wdi.2_Silent_p.L300L|HNF1B_uc021tvv.1_Silent_p.L326L|HNF1B_uc021tvw.1_Silent_p.L300L|HNF1B_uc010cve.1_Silent_p.L134L NM_000458 NP_000449 P35680 HNF1B_HUMAN Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA. 326 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) AGAGGGTTCAGGCTGTGAGTC 0.597000 320 171 0 0 0.000781405 0 0 NPY5R 4889 broad.mit.edu 37 4 164272238 164272238 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:164272238C>T uc003iqn.3 + 3 995 c.813C>T c.(811-813)ctC>ctT p.L271L NPY5R_uc021xtw.1_Silent_p.L271L NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 271 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AGGTGAAACTCTCTGGCAGCC 0.398000 69 19 0 0 0.00152264 0 0 DDX10 1662 broad.mit.edu 37 11 108594053 108594053 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:108594053C>T uc001pkm.3 + 12 1894 c.1829C>T c.(1828-1830)aCc>aTc p.T610I DDX10_uc001pkl.1_Missense_Mutation_p.T610I NM_004398 NP_004389 Q13206 DDX10_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA. 610 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity p.E594_E618del(2) breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CTTCCTAACACCAGTGAGGCA 0.438000 T NUP98 AML* 21 16 0 0 0.000958276 0 0 NTNG1 22854 broad.mit.edu 37 1 107691265 107691265 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:107691265C>T uc001dvh.4 + 1 768 c.50C>T c.(49-51)tCc>tTc p.S17F NTNG1_uc001dvc.4_Missense_Mutation_p.S17F|NTNG1_uc010out.2_Missense_Mutation_p.S17F|NTNG1_uc001dvf.4_Missense_Mutation_p.S17F|NTNG1_uc001dvd.1_Missense_Mutation_p.S17F NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 17 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) GTTACGGTGTCCTCAGTGATG 0.423000 88 41 0 0 0.0025221 0 0 PARD3 56288 broad.mit.edu 37 10 34400331 34400331 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:34400331G>A uc010qej.2 - 24 4167 c.3837C>T c.(3835-3837)gtC>gtT p.V1279V PARD3_uc010qep.2_Silent_p.V1189V|PARD3_uc010qeq.2_Silent_p.V1167V|PARD3_uc010qek.2_Silent_p.V1276V|PARD3_uc010qel.2_Silent_p.V1242V|PARD3_uc010qem.2_Silent_p.V1263V|PARD3_uc010qen.2_Silent_p.V1233V|PARD3_uc010qeo.2_Silent_p.V1196V NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 1279 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TTTCCAGCATGACCCTGGCGT 0.592000 29 14 0 0 0.000566183 0 0 CDH18 1016 broad.mit.edu 37 5 19520879 19520879 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:19520879C>T uc003jgd.3 - 9 1933 c.1399G>A c.(1399-1401)Gat>Aat p.D467N CDH18_uc011cnm.2_Missense_Mutation_p.D467N|CDH18_uc003jgc.3_Missense_Mutation_p.D467N|CDH18_uc021xwu.1_Missense_Mutation_p.D467N NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 467 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTCAGCAAATCAGGATTATCT 0.373000 47 34 0 0 0.00285205 0 0 C10orf96 374355 broad.mit.edu 37 10 118137974 118137974 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:118137974G>A uc001lck.3 + 7 944 c.693G>A c.(691-693)atG>atA p.M231I NM_198515 NP_940917 P0C7W6 CJ096_HUMAN Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA. 231 kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3) 18 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) AAGATGACATGGAAAGTGTTT 0.274000 28 25 0 0 0.00127121 0 0 EVX1 2128 broad.mit.edu 37 7 27284840 27284840 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:27284840G>A uc003szd.1 + 1 1087 c.601G>A c.(601-603)Gaa>Aaa p.E201K EVX1_uc011jzn.1_Missense_Mutation_p.E19K|EVX1_uc010kuy.1_Silent_p.R182R NM_001989 NP_001980 P49640 EVX1_HUMAN Homo sapiens even-skipped homeobox 1 (EVX1), mRNA. 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 GCTGGAGAAGGAATTCTACCG 0.647000 64 26 0 0 0.000586117 0 0 MGAM 8972 broad.mit.edu 37 7 141764249 141764249 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:141764249C>T uc003vwy.3 + 36 4465 c.4411C>T c.(4411-4413)Cca>Tca p.P1471S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1471 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GCAGATCCTCCCAGACGGCTC 0.582000 6 10 0 0 0.000442599 0 0 DOCK3 1795 broad.mit.edu 37 3 51266179 51266179 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:51266179C>T uc011bds.2 + 17 1758 c.1735C>T c.(1735-1737)Cct>Tct p.P579S NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 579 DHR-1. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCCTAATATTCCTTCTAGCCT 0.478000 46 15 0 0 0.00244969 0 0 KCNAB1 7881 broad.mit.edu 37 3 156139410 156139410 + Missense_Mutation SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:156139410T>C uc003far.2 + 1 345 c.281T>C c.(280-282)cTt>cCt p.L94P KCNAB1_uc011bon.1_Missense_Mutation_p.L94P|KCNAB1_uc003fas.2_Missense_Mutation_p.L83P|KCNAB1_uc003fat.2_Missense_Mutation_p.L76P|KCNAB1_uc010hvt.1_Missense_Mutation_p.L76P NM_172160 NP_751892 Q14722 KCAB1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA. 94 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TATAGGAATCTTGGAAAATCA 0.463000 90 32 0 0 0.00058488 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356123 40356123 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:40356123G>A uc003gva.1 + 4 1042 c.1026G>A c.(1024-1026)ctG>ctA p.L342L NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 342 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TGGTCATCCTGAAATACATGT 0.557000 168 86 0 0 0.000781405 0 0 FRMPD2 143162 broad.mit.edu 37 10 49386119 49386119 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:49386119C>T uc001jgi.3 - 21 3197 c.2866G>A c.(2866-2868)Gaa>Aaa p.E956K FRMPD2_uc001jgh.3_Missense_Mutation_p.E924K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E925K|FRMPD2_uc001jgf.3_5'Flank|FRMPD2_uc001jgg.3_5'Flank|FRMPD2_uc001jgk.3_5'UTR NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 956 PDZ 2. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GTCCCATCTTCTTTAACCAGT 0.428000 15 5 0 0 0.000274275 0 0 ITGA4 3676 broad.mit.edu 37 2 182343501 182343501 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:182343501G>A uc002unu.3 + 4 1337 c.574G>A c.(574-576)Gga>Aga p.G192R ITGA4_uc010zfl.1_Missense_Mutation_p.G192R NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 192 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GAAAAAATTTGGAGAAAATTT 0.234000 13 6 0 0 0.00116845 0 0 LRRC18 474354 broad.mit.edu 37 10 50122162 50122162 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:50122162G>A uc001jhd.3 - 0 119 c.39C>T c.(37-39)atC>atT p.I13I WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.I13I NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA. 13 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CCTTGAGGGTGATCTTCTTGC 0.443000 36 21 0 0 0.00278032 0 0 TAF7L 54457 broad.mit.edu 37 X 100532599 100532599 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:100532599G>A uc004ehb.3 - 8 970 c.944C>T c.(943-945)tCg>tTg p.S315L TAF7L_uc004eha.3_Missense_Mutation_p.S229L|TAF7L_uc004ehc.2_Missense_Mutation_p.S229L NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 315 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 AGTACCTGACGAGGTATGACC 0.433000 191 32 0 0 0.000692331 0 0 CR1 1378 broad.mit.edu 37 1 207751265 207751265 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:207751265G>A uc001hfy.3 + 20 3443 c.3303G>A c.(3301-3303)ggG>ggA p.G1101G CR1_uc009xcl.1_Silent_p.G651G|CR1_uc001hfx.3_Silent_p.G1551G|CR1_uc021pij.1_Silent_p.G1101G NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1101 Sushi 17. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GAAGCAGAGGGAGAAAGGTGT 0.517000 123 94 0 0 0.000781405 0 0 IZUMO2 126123 broad.mit.edu 37 19 50657946 50657946 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:50657946C>T uc002prp.1 - 5 621 c.534G>A c.(532-534)atG>atA p.M178I NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN Homo sapiens IZUMO family member 2 (IZUMO2), mRNA. 178 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 ATTTGCTGTCCATCTGGTACT 0.612000 64 5 0 0 0.000602214 0 0 PLEC 5339 broad.mit.edu 37 8 144995049 144995049 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:144995049C>T uc003zaf.1 - 31 9521 c.9351G>A c.(9349-9351)ctG>ctA p.L3117L PLEC_uc003zab.1_Silent_p.L2980L|PLEC_uc003zac.1_Silent_p.L2984L|PLEC_uc003zad.2_Silent_p.L2980L|PLEC_uc003zae.1_Silent_p.L2948L|PLEC_uc003zag.1_Silent_p.L2958L|PLEC_uc003zah.2_Silent_p.L2966L|PLEC_uc003zaj.2_Silent_p.L3007L NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3117 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGGCTGGCACCAGGCTGCGCA 0.642000 14 11 0 0 0.000978159 0 0 OR13G1 441933 broad.mit.edu 37 1 247836218 247836218 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247836218G>A uc001idi.1 - 0 126 c.126C>T c.(124-126)atC>atT p.I42I NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCAATGATGATGAGCATGT 0.423000 55 22 0 0 0.00229938 0 0 PRICKLE3 4007 broad.mit.edu 37 X 49034802 49034802 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:49034802C>T uc004dmy.1 - 5 613 c.587G>A c.(586-588)gGg>gAg p.G196E PRICKLE3_uc011mmv.1_Missense_Mutation_p.G128E|PRICKLE3_uc011mmw.1_Missense_Mutation_p.G115E|PRICKLE3_uc011mmx.1_Missense_Mutation_p.G158E|PRICKLE3_uc011mmy.1_Missense_Mutation_p.G183E NM_006150 NP_006141 O43900 PRIC3_HUMAN Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA. 196 LIM zinc-binding 1. protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 TGCGATGTCCCCACCTCCAAT 0.567000 22 7 0 0 0.00307968 0 0 SMS 6611 broad.mit.edu 37 X 21997082 21997082 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:21997082C>T uc004dag.3 + 6 976 c.748C>T c.(748-750)Cag>Tag p.Q250* NM_004595 NP_004586 P52788 SPSY_HUMAN Homo sapiens spermine synthase (SMS), mRNA. 250 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) AGACTGCTATCAGGTAATTGT 0.343000 88 19 0 0 0.00074312 0 0 HIP1R 9026 broad.mit.edu 37 12 123335413 123335413 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:123335413C>T uc001udj.1 + 5 529 c.470C>T c.(469-471)aCa>aTa p.T157I HIP1R_uc001udg.1_Missense_Mutation_p.T145I|HIP1R_uc001udi.1_Missense_Mutation_p.T157I NM_003959 NP_003950 O75146 HIP1R_HUMAN Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA. 157 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CTGGAGGTGACAGATGAGGTA 0.622000 57 17 0 0 0.00121646 0 0 ARL5A 26225 broad.mit.edu 37 2 152684689 152684689 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:152684689A>G uc002txx.1 - 0 321 c.2T>C c.(1-3)aTg>aCg p.M1T ARL5A_uc010zcc.2_Intron|ARL5A_uc002txv.1_Intron|ARL5A_uc002txw.1_Intron NM_012097 NP_817114 Q9Y689 ARL5A_HUMAN Homo sapiens ADP-ribosylation factor-like 5A (ARL5A), transcript variant 1, mRNA. 1 small GTPase mediated signal transduction intracellular GTP binding breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) GAGAATTCCCATTCTCGGGCA 0.677000 28 5 0 0 0.000602214 0 0 ZNF732 654254 broad.mit.edu 37 4 289909 289909 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:289909G>A uc021xka.1 - 1 39 c.39C>T c.(37-39)ttC>ttT p.F13F ZNF732_uc011buu.1_5'UTR NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN Homo sapiens zinc finger protein 732 (ZNF732), mRNA. 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 CTTCTGGAGAGAATTCTATGG 0.418000 36 10 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9091671 9091671 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9091671G>A uc002mkp.3 - 0 348 c.144C>T c.(142-144)atC>atT p.I48I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 48 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGTCACCACGATTGCACCTG 0.517000 36 14 0 0 0.00244969 0 0 RNF17 56163 broad.mit.edu 37 13 25433214 25433214 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:25433214G>A uc001upr.3 + 25 3727 c.3686G>A c.(3685-3687)tGg>tAg p.W1229* RNF17_uc010tdd.1_Nonsense_Mutation_p.W1088*|RNF17_uc010tde.2_Nonsense_Mutation_p.W1225*|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Nonsense_Mutation_p.W1168*|RNF17_uc010aac.3_Nonsense_Mutation_p.W427*|RNF17_uc010aad.3_Nonsense_Mutation_p.W281* NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1229 Tudor 3. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCTTATTTCTGGAAAAAAGGA 0.373000 25 10 0 0 0.000673444 0 0 P2RX7 5027 broad.mit.edu 37 12 121603181 121603181 + Silent SNP C G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:121603181C>G uc001tzm.3 + 5 707 c.555C>G c.(553-555)gcC>gcG p.A185A P2RX7_uc001tzn.3_Silent_p.A95A|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_Silent_p.A15A NM_002562 NP_002553 A8K2Z0 A8K2Z0_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA. 185 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGAACAGTGCCGAAAACTTCA 0.552000 228 40 0 0 0.00195071 0 0 NTNG1 22854 broad.mit.edu 37 1 107937858 107937858 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:107937858C>T uc001dvh.4 + 3 1688 c.970C>T c.(970-972)Cca>Tca p.P324S NTNG1_uc001dvc.4_Missense_Mutation_p.P324S|NTNG1_uc010out.2_Missense_Mutation_p.P324S|NTNG1_uc001dvf.4_Missense_Mutation_p.P324S|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.P324S NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 324 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding p.P324A(4) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CACTACAGGTCCAGACTGTGG 0.493000 106 48 0 0 0.000781405 0 0 MMP3 4314 broad.mit.edu 37 11 102710983 102710983 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:102710983C>T uc001phj.1 - 6 856 c.791_splice c.e6-1 p.G264_splice NM_002422 NP_002413 P08254 MMP3_HUMAN Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA. 264 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AGGGGGAGGTCCTAAAGGGAA 0.483000 29 8 0 0 0.00307968 0 0 NAV2 89797 broad.mit.edu 37 11 19955287 19955287 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:19955287G>A uc010rdm.2 + 7 1927 c.1566G>A c.(1564-1566)gaG>gaA p.E522E NAV2_uc001mpp.3_Silent_p.E435E|NAV2_uc001mpr.4_Silent_p.E499E|NAV2_uc021qew.1_Silent_p.E499E NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 522 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 aggataaggagaaaagcaagg 0.532000 41 7 0 0 0.00198382 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42437807 42437807 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:42437807G>A uc001zoz.3 - 15 1838 c.1746C>T c.(1744-1746)ttC>ttT p.F582F PLA2G4F_uc010bcq.3_5'UTR|PLA2G4F_uc001zoy.3_Silent_p.F214F|PLA2G4F_uc001zpa.3_Silent_p.F333F|PLA2G4F_uc010bcr.3_Silent_p.F333F|PLA2G4F_uc010bcs.3_Silent_p.F369F NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 582 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACCACTCCAGGAAGCTGAGGC 0.622000 86 35 0 0 0.00128727 0 0 OR52M1 119772 broad.mit.edu 37 11 4567252 4567252 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:4567252C>T uc010qyf.2 + 0 832 c.832C>T c.(832-834)Ctg>Ttg p.L278L NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCACACTCTGCTGGCCAA 0.498000 41 10 0 0 0.000442599 0 0 ADAM7 8756 broad.mit.edu 37 8 24326320 24326320 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:24326320C>T uc003xeb.3 + 6 733 c.620C>T c.(619-621)gCt>gTt p.A207V NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 207 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTCATTGTTGCTGATGATACT 0.318000 49 19 0 0 0.00188189 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454751 114454751 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:114454751C>T uc001eeg.3 + 3 1831 c.1537C>T c.(1537-1539)Cag>Tag p.Q513* DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.Q387* NM_022836 NP_073747 Q9H816 DCR1B_HUMAN Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA. 513 DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAACTTTTTCCAGGCAGGGTA 0.483000 Other identified genes with known or suspected DNA repair function 119 41 0 0 0.000781405 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643603 88643604 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:88643603_88643604GG>AA uc010voz.2 + 1 272_273 c.72_73GG>AA c.(70-75)tcggac>tcAAac p.D25N ZC3H18_uc021tmm.1_Missense_Mutation_p.D25N|ZC3H18_uc010voy.1_Missense_Mutation_p.D25N|ZC3H18_uc002fky.3_Missense_Mutation_p.D25N|ZC3H18_uc010vpa.1_Missense_Mutation_p.D25N NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 25 nucleus nucleic acid binding|zinc ion binding p.D25D(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) AGGGACTCTCGGACGATGACAT 0.599000 25 11 0 0 6.4e-05 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759022 121759022 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:121759022C>T uc003ksw.1 + 3 796 c.590C>T c.(589-591)tCt>tTt p.S197F SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.S197F|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.S244F|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.S197F NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 197 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ACAGGAAGTTCTGAGAGCTCA 0.463000 53 45 0 0 0.0025221 0 0 OR51F2 119694 broad.mit.edu 37 11 4842792 4842792 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:4842792C>T uc010qyn.2 + 0 177 c.177C>T c.(175-177)atC>atT p.I59I NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I59N(1) breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGCATGATCCTGTTTGTGG 0.488000 153 16 0 0 0.000566183 0 0 PLCB1 23236 broad.mit.edu 37 20 8717814 8717814 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:8717814A>G uc002wnb.3 + 19 2186 c.2183A>G c.(2182-2184)gAa>gGa p.E728G PLCB1_uc010zrb.1_Missense_Mutation_p.E627G|PLCB1_uc002wna.3_Missense_Mutation_p.E728G|PLCB1_uc002wnc.1_Missense_Mutation_p.E627G|PLCB1_uc002wnd.1_Missense_Mutation_p.E305G NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 728 C2. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CCTGTCTGGGAAGAAGAACCT 0.378000 55 16 0 0 0.000958276 0 0 ZNF75D 7626 broad.mit.edu 37 X 134426375 134426375 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:134426375C>T uc022ceq.1 - 2 826 c.436G>A c.(436-438)Gag>Aag p.E146K DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Intron NM_007131 NP_009062 P51815 ZN75D_HUMAN Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA. 146 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AGCACTGCCTCCTTTCCCAGC 0.512000 75 13 0 0 0.000566183 0 0 C18orf34 374864 broad.mit.edu 37 18 30992029 30992029 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:30992029G>A uc010xbr.1 - 1 166 c.24C>T c.(22-24)tcC>tcT p.S8S C18orf34_uc002kxn.2_Silent_p.S8S|C18orf34_uc010dmf.1_Silent_p.S8S|C18orf34_uc002kxo.2_Silent_p.S8S|C18orf34_uc002kxp.3_Silent_p.S8S NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 8 p.S8S(2)|p.V7F(1) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 TGGAAGAAGAGGAAACTGTCT 0.229000 23 10 0 0 0.00136819 0 0 KAT6A 7994 broad.mit.edu 37 8 41834788 41834788 + Missense_Mutation SNP T A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:41834788T>A uc010lxb.3 - 7 1645 c.1101A>T c.(1099-1101)aaA>aaT p.K367N KAT6A_uc010lxc.3_Missense_Mutation_p.K367N|KAT6A_uc003xon.4_Missense_Mutation_p.K367N|KAT6A_uc010lxd.3_Missense_Mutation_p.K367N NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 367 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding AAAGAGTGATTTTTCGTTTCC 0.413000 61 20 0 0 0.00188189 0 0 DAB2 1601 broad.mit.edu 37 5 39381617 39381617 + Silent SNP G C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:39381617G>C uc003jlx.3 - 10 1974 c.1443C>G c.(1441-1443)ccC>ccG p.P481P DAB2_uc003jlw.3_Silent_p.P460P NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 481 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CCAGAGGGTTGGGCTGCAGGG 0.537000 96 28 0 0 0.00209593 0 0 EPB41L2 2037 broad.mit.edu 37 6 131276354 131276354 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:131276354G>A uc003qch.2 - 2 778 c.596C>T c.(595-597)aCc>aTc p.T199I EPB41L2_uc010kfl.2_Missense_Mutation_p.T199I|EPB41L2_uc003qcg.1_Missense_Mutation_p.T199I|EPB41L2_uc003qci.3_Missense_Mutation_p.T199I|EPB41L2_uc011eby.2_Missense_Mutation_p.T199I|EPB41L2_uc010kfk.2_Missense_Mutation_p.T199I NM_001431 NP_001422 O43491 E41L2_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA. 199 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity p.Q198*(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CAGCTCATTGGTCTGCACTTC 0.433000 112 43 0 0 0.000781405 0 0 SCN11A 11280 broad.mit.edu 37 3 38938447 38938447 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:38938447G>A uc021wvy.1 - 13 2491 c.2292C>T c.(2290-2292)atC>atT p.I764I SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 764 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R763H(3) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCCCGCAGAGGATGCGGAATA 0.473000 32 10 0 0 0.000673444 0 0 LRP5 4041 broad.mit.edu 37 11 68153959 68153959 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:68153959C>T uc001ont.3 + 5 1266 c.1191C>T c.(1189-1191)atC>atT p.I397I LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 397 Beta-propeller 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGCGGGCCATCCGCAGGGCGT 0.637000 44 8 0 0 0.00307968 0 0 NID1 4811 broad.mit.edu 37 1 236175286 236175286 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:236175286G>A uc001hxo.3 - 11 2564 c.2462C>T c.(2461-2463)cCa>cTa p.P821L NID1_uc009xgd.3_Intron|NID1_uc009xgc.3_5'UTR NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 821 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GAAAGAGCCTGGAGTGTTGTA 0.552000 45 20 0 0 0.00229938 0 0 TTN 7273 broad.mit.edu 37 2 179583666 179583666 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:179583666C>T uc021vsy.1 - 80 20754 c.20529G>A c.(20527-20529)gtG>gtA p.V6843V TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3504V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7770 Ig-like 50. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAAACTTCCACAGAATCAG 0.473000 14 4 0 0 0.00024832 0 0 CYLC1 1538 broad.mit.edu 37 X 83128074 83128074 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:83128074G>A uc004eei.1 + 3 379 c.358G>A c.(358-360)Gat>Aat p.D120N CYLC1_uc004eeh.1_Missense_Mutation_p.D119N NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 120 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 AAAGTCCAAAGATGAAAAAGG 0.368000 11 15 0 0 0.00244969 0 0 OSBPL7 114881 broad.mit.edu 37 17 45892672 45892672 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:45892672G>A uc002ilx.1 - 12 1369 c.1166C>T c.(1165-1167)tCg>tTg p.S389L OSBPL7_uc002ilw.1_5'UTR NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 389 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GCTGGTCTGCGATAGCTGGGG 0.607000 11 6 0 0 0.000274275 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245608 137245608 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:137245608G>A uc003qhe.3 + 1 1190 c.1025G>A c.(1024-1026)gGa>gAa p.G342E NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA. 342 carbohydrate transport integral to membrane p.G342E(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GGGGAGGGAGGAAATGGCCGG 0.687000 18 6 0 0 0.00116845 0 0 F2 2147 broad.mit.edu 37 11 46750326 46750326 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:46750326C>T uc001ndf.4 + 10 1454 c.1411C>T c.(1411-1413)Cct>Tct p.P471S NM_000506 NP_000497 P00734 THRB_HUMAN Homo sapiens coagulation factor II (thrombin) (F2), mRNA. 471 Peptidase S1. STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity p.P471S(2) endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GCTGAAGAAGCCTGTTGCCTT 0.547000 60 12 0 0 0.00185496 0 0 ELP3 55140 broad.mit.edu 37 8 27957418 27957418 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:27957418C>T uc003xgo.4 + 2 341 c.193C>T c.(193-195)Cct>Tct p.P65S ELP3_uc003xgn.4_Missense_Mutation_p.P50S|ELP3_uc011las.2_5'UTR|ELP3_uc011lat.2_Intron|ELP3_uc011laq.2_5'UTR|ELP3_uc011lar.2_Intron NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA. 65 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TGCTGCCGTCCCTCCTCAGTA 0.502000 56 22 0 0 0.00047179 0 0 OR1C1 26188 broad.mit.edu 37 1 247921054 247921054 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247921054C>T uc010pza.2 - 0 655 c.655G>A c.(655-657)Gga>Aga p.G219R NM_012353 NP_036485 Q15619 OR1C1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G219*(2) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGATAAGTCCATAAGATACG 0.483000 29 27 0 0 0.00209593 0 0 HRH4 59340 broad.mit.edu 37 18 22056862 22056862 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:22056862C>T uc002kvi.3 + 2 609 c.509C>T c.(508-510)tCg>tTg p.S170L HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Missense_Mutation_p.S82L NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA. 170 integral to membrane|plasma membrane histamine receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) GGATTTTTTTCGGAATGGTAC 0.433000 93 33 0 0 0.000692331 0 0 BMP3 651 broad.mit.edu 37 4 81966994 81966994 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:81966994G>A uc003hmg.4 + 1 739 c.419G>A c.(418-420)gGa>gAa p.G140E NM_001201 NP_001192 P12645 BMP3_HUMAN Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA. 140 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GGAGAGCTAGGAAACATCAGC 0.428000 71 24 0 0 0.00278032 0 0 FGR 2268 broad.mit.edu 37 1 27939754 27939754 + Missense_Mutation SNP T G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:27939754T>G uc001boj.3 - 9 1503 c.1357A>C c.(1357-1359)Acc>Ccc p.T453P FGR_uc001boi.3_Missense_Mutation_p.T156P|FGR_uc001bok.3_Missense_Mutation_p.T453P|FGR_uc001bol.3_Missense_Mutation_p.T453P|FGR_uc001bom.3_Missense_Mutation_p.T453P NM_005248 NP_005239 P09769 FGR_HUMAN Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA. 453 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGGCCCTTGGTGATGAGCTCA 0.602000 50 16 0 0 0.000566183 0 0 C1orf112 55732 broad.mit.edu 37 1 169790881 169790881 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:169790881C>T uc001ggq.3 + 8 1464 c.764C>T c.(763-765)tCc>tTc p.S255F C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.S255F|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Missense_Mutation_p.S226F|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.3_Missense_Mutation_p.S120F|C1orf112_uc010plv.2_Missense_Mutation_p.S197F NM_018186 NP_060656 Q9NSG2 CA112_HUMAN Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA. 255 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTGCCAACTCCCTTTTgcac 0.318000 42 21 0 0 0.00188189 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061445 13061445 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:13061445G>A uc001rba.3 + 1 912 c.262G>A c.(262-264)Gga>Aga p.G88R NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA. 88 Golgi apparatus|cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CTTCATCATCGGACTGGACGG 0.552000 134 54 0 0 0.000781405 0 0 HVCN1 84329 broad.mit.edu 37 12 111089247 111089247 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:111089247G>A uc001trs.1 - 5 583 c.418C>T c.(418-420)Cac>Tac p.H140Y HVCN1_uc001trq.1_Missense_Mutation_p.H140Y|HVCN1_uc001trt.1_Missense_Mutation_p.H140Y|HVCN1_uc010syd.1_Missense_Mutation_p.H120Y NM_032369 NP_115745 Q96D96 HVCN1_HUMAN Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA. 140 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 CTCATGTAGTGGAATACCTGA 0.478000 15 10 0 0 0.000442599 0 0 RAB4B 53916 broad.mit.edu 37 19 41289901 41289901 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:41289901C>T uc002opd.2 + 4 508 c.351C>T c.(349-351)atC>atT p.I117I RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Silent_p.I143I NM_016154 NP_057238 P61018 RAB4B_HUMAN Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA. 117 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 11 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCGTGGTCATCCTCTGTGGCA 0.627000 28 5 0 0 0.00116845 0 0 C6orf165 154313 broad.mit.edu 37 6 88119576 88119576 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:88119576G>A uc003plv.3 + 1 142 c.19G>A c.(19-21)Gaa>Aaa p.E7K C6orf165_uc003plu.2_Missense_Mutation_p.E7K|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 7 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AACTCAGGCCGAAAGTGTTAT 0.333000 58 21 0 0 0.00229938 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26669304 26669304 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:26669304G>A uc002hax.2 + 5 569 c.550G>A c.(550-552)Gag>Aag p.E184K TNFAIP1_uc002hay.3_Missense_Mutation_p.E184K|TNFAIP1_uc010waf.2_Missense_Mutation_p.E80K NM_021137 NP_066960 Q13829 BACD2_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA. 184 DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity p.E184K(2)|p.I183I(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAAAACATCGAGCTGTTTGA 0.542000 19 11 0 0 0.00244969 0 0 ASTN2 23245 broad.mit.edu 37 9 119188211 119188211 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:119188211G>A uc004bjt.2 - 21 3887 c.3786C>T c.(3784-3786)atC>atT p.I1262I ASTN2_uc022bml.1_Silent_p.I958I|ASTN2_uc022bmm.1_Silent_p.I962I|ASTN2_uc004bjp.2_Silent_p.I414I|ASTN2_uc011lxr.2_Silent_p.I365I|ASTN2_uc011lxs.2_Silent_p.I365I|ASTN2_uc011lxt.2_Silent_p.I365I|ASTN2_uc004bjq.2_Silent_p.I365I NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 1313 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGTCCTTGAGGATGCTATACC 0.592000 16 11 0 0 0.000978159 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728888 15728888 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:15728888G>A uc002nbi.3 + 2 340 c.276G>A c.(274-276)ttG>ttA p.L92L CYP4F8_uc010xoi.1_Silent_p.L92L|CYP4F8_uc010xoj.2_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA. 92 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TGAGGTGGTTGGGCCCCATCA 0.597000 61 11 0 0 0.00185496 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913245 77913245 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:77913245G>A uc022bzi.1 - 0 673 c.673C>T c.(673-675)Cca>Tca p.P225S ZCCHC5_uc004edc.1_Missense_Mutation_p.P225S NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 225 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGGGCCTGTGGAAACTCTGAA 0.507000 22 11 0 0 0.00136819 0 0 EPHB6 2051 broad.mit.edu 37 7 142564278 142564278 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:142564278C>T uc011kst.2 + 9 2289 c.1502C>T c.(1501-1503)tCc>tTc p.S501F EPHB6_uc011ksu.2_Missense_Mutation_p.S501F|EPHB6_uc003wbs.3_Missense_Mutation_p.S209F|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.S209F|EPHB6_uc003wbv.3_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 501 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) AGCCGGGCATCCAACAGCATC 0.587000 25 30 0 0 0.00178596 0 0 TADA3 10474 broad.mit.edu 37 3 9827025 9827025 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:9827025G>A uc003bsx.1 - 6 1443 c.895C>T c.(895-897)Cct>Tct p.P299S TADA3_uc010hcn.1_Missense_Mutation_p.P299S|TADA3_uc003bsy.3_Missense_Mutation_p.P299S|TADA3_uc003bsw.1_Missense_Mutation_p.P128S NM_006354 NP_006345 O75528 TADA3_HUMAN Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA. 299 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 TGATTGCGAGGGGAGGTGCTT 0.517000 39 19 0 0 0.00229938 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069279 6069279 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:6069279G>A uc010ndi.3 - 1 693 c.229C>T c.(229-231)Ccc>Tcc p.P77S NLGN4X_uc004crp.3_Missense_Mutation_p.P77S|NLGN4X_uc010ndh.3_Missense_Mutation_p.P77S|NLGN4X_uc004crq.3_Missense_Mutation_p.P77S|NLGN4X_uc004crr.3_Missense_Mutation_p.P77S|NLGN4X_uc010ndj.3_Missense_Mutation_p.P77S NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA. 77 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GAGGCATAGGGGACCCCTAAG 0.542000 45 18 0 0 0.00074312 0 0 VWF 7450 broad.mit.edu 37 12 6103617 6103617 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:6103617G>A uc001qnn.1 - 35 6470 c.6220C>T c.(6220-6222)Ccc>Tcc p.P2074S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2074 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity p.P2074S(2) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AAAGTCTTGGGGCTGAGCTGC 0.428000 112 39 0 0 0.00222228 0 0 PREX2 80243 broad.mit.edu 37 8 69129915 69129915 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:69129915C>T uc003xxv.1 + 37 4696 c.4669C>T c.(4669-4671)Cgt>Tgt p.R1557C NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1557 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.R1557C(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACTGCCACCTCGTTACATCAT 0.552000 17 9 0 0 0.000673444 0 0 ADAM9 8754 broad.mit.edu 37 8 38865485 38865485 + Missense_Mutation SNP A T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:38865485A>T uc003xmr.3 + 1 256 c.178A>T c.(178-180)Agg>Tgg p.R60W ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript|ADAM9_uc003xmp.3_Missense_Mutation_p.R60W NM_003816 NP_003807 Q13443 ADAM9_HUMAN Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA. 60 Missing (in Ref. 2; no nucleotide entry). PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AGAAGCCCCTAGGCCCTATTC 0.328000 45 14 0 0 0.00244969 0 0 CD180 4064 broad.mit.edu 37 5 66479863 66479863 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:66479863C>T uc003juy.2 - 2 956 c.808G>A c.(808-810)Gga>Aga p.G270R NM_005582 NP_005573 Q99467 CD180_HUMAN Homo sapiens CD180 molecule (CD180), mRNA. 270 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TCACAGAGTCCCTTGAGCATG 0.453000 19 14 0 0 0.000566183 0 0 TRPC5 7224 broad.mit.edu 37 X 111090377 111090377 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:111090377C>T uc004epl.1 - 5 2584 c.1665G>A c.(1663-1665)ggG>ggA p.G555G TRPC5_uc004epm.1_Silent_p.G555G NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 555 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.K554N(1) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CACATCGGATCCCCTTGCAGT 0.403000 129 51 0 0 0.000781405 0 0 BAIAP3 8938 broad.mit.edu 37 16 1395287 1395287 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:1395287C>T uc002clk.2 + 21 2241 c.2083C>T c.(2083-2085)Ccc>Tcc p.P695S BAIAP3_uc010uuz.2_Missense_Mutation_p.P660S|BAIAP3_uc010uva.2_Missense_Mutation_p.P632S|BAIAP3_uc021tag.1_Missense_Mutation_p.P637S|BAIAP3_uc002clj.3_Missense_Mutation_p.P677S|BAIAP3_uc010uvc.1_Missense_Mutation_p.P624S NM_003933 NP_001186026 O94812 BAIP3_HUMAN Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA. 695 MHD1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding p.A694T(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CATCCACGCCCCCTTCCTGCC 0.642000 52 19 0 0 0.000958276 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427199 71427199 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:71427199C>T uc004eaq.1 - 1 1515 c.1418G>A c.(1417-1419)cGa>cAa p.R473Q PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.R350Q NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA. 473 Helicase C-terminal. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TCCCTCATCTCGCAGCCTCTT 0.398000 55 12 0 0 0.00244969 0 0 MYO5A 4644 broad.mit.edu 37 15 52681452 52681452 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:52681452G>A uc002aby.2 - 12 1895 c.1651C>T c.(1651-1653)Caa>Taa p.Q551* MYO5A_uc002abx.3_Nonsense_Mutation_p.Q551*|MYO5A_uc010uge.1_Nonsense_Mutation_p.Q420* NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA. 551 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCAAAATGTTGGATGATGAAA 0.353000 41 9 0 0 0.000673444 0 0 COL4A5 1287 broad.mit.edu 37 X 107846280 107846280 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:107846280C>T uc022ccg.1 + 27 2435 c.2233C>T c.(2233-2235)Cca>Tca p.P745S COL4A5_uc004enz.1_Missense_Mutation_p.P745S|COL4A5_uc004eob.1_Missense_Mutation_p.P353S NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 745 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACCCGGCTTTCCAGGACCAAA 0.458000 Alport syndrome with Diffuse Leiomyomatosis 8 4 0 0 0.00024832 0 0 TRMT5 57570 broad.mit.edu 37 14 61446310 61446310 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:61446310C>T uc001xff.4 - 1 397 c.306G>A c.(304-306)agG>agA p.R102R SLC38A6_uc001xfg.2_5'Flank|SLC38A6_uc001xfh.2_5'Flank|SLC38A6_uc001xfi.3_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.3_5'Flank|SLC38A6_uc010trz.2_5'Flank NM_020810 NP_065861 Q32P41 TRMT5_HUMAN Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA. 102 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) CTATTTCTTTCCTCACTTTAA 0.408000 68 36 0 0 0.000692331 0 0 WFDC8 90199 broad.mit.edu 37 20 44181906 44181906 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:44181906C>T uc002xow.3 - 4 534 c.455G>A c.(454-456)gGa>gAa p.G152E WFDC8_uc002xox.3_Missense_Mutation_p.G152E NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 152 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TGGGCATTGTCCATCCTTAAC 0.468000 31 9 0 0 0.000673444 0 0 ABCA13 154664 broad.mit.edu 37 7 48269475 48269475 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:48269475C>T uc003toq.2 + 6 710 c.686C>T c.(685-687)tCc>tTc p.S229F ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 229 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 CAAACTTTTTCCCAGGTTTCT 0.408000 175 49 0 0 0.000781405 0 0 CD163L1 283316 broad.mit.edu 37 12 7531810 7531810 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:7531810C>T uc010sge.2 - 8 2191 c.2165G>A c.(2164-2166)gGa>gAa p.G722E CD163L1_uc001qsy.3_Missense_Mutation_p.G712E NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 712 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACACAGAATTCCCACGGCACC 0.502000 49 27 0 0 0.00106085 0 0 DNAH8 1769 broad.mit.edu 37 6 38825330 38825330 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:38825330G>A uc021yzh.1 + 41 5879 c.5770G>A c.(5770-5772)Gat>Aat p.D1924N DNAH8_uc003ooe.2_Missense_Mutation_p.D1707N NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTGGACACACGATTCAGAAGA 0.343000 52 15 0 0 0.000308642 0 0 RFX2 5990 broad.mit.edu 37 19 6040210 6040210 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:6040210G>A uc002meb.3 - 4 572 c.303C>T c.(301-303)gcC>gcT p.A101A RFX2_uc002mec.3_Silent_p.A101A|RFX2_uc010xiy.1_Silent_p.A56A NM_000635 NP_000626 P48378 RFX2_HUMAN Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA. 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TGCTGCTGGGGGCGTACATCT 0.612000 81 29 0 0 0.00178596 0 0 C9orf80 58493 broad.mit.edu 37 9 115456459 115456459 + Missense_Mutation SNP C G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:115456459C>G uc004bgg.3 - 2 257 c.80G>C c.(79-81)aGa>aCa p.R27T C9orf80_uc010muk.3_Non-coding_Transcript NM_021218 NP_067041 Q9NRY2 SOSSC_HUMAN Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA. 27 DNA repair|response to ionizing radiation SOSS complex protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 4 AAGTAGTTTTCTTTTCTCTTT 0.343000 63 27 0 0 0.00283554 0 0 OR2G3 81469 broad.mit.edu 37 1 247769793 247769793 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:247769793G>A uc010pyz.2 + 0 906 c.906G>A c.(904-906)agG>agA p.R302R NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGGCTCTGAGGAAACTTCTCT 0.393000 62 34 0 0 0.000953801 0 0 CDC37L1 55664 broad.mit.edu 37 9 4697137 4697137 + Missense_Mutation SNP G C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:4697137G>C uc003zio.3 + 3 752 c.550G>C c.(550-552)Gac>Cac p.D184H NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA. 184 Self-association and interaction with Hsp90. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) ATTTTTGTCTGACCATCCATA 0.348000 55 10 0 0 0.000978159 0 0 TMEM201 199953 broad.mit.edu 37 1 9657101 9657101 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:9657101C>T uc021ofy.1 + 2 476 c.419C>T c.(418-420)cCc>cTc p.P140L TMEM201_uc001apy.3_Missense_Mutation_p.P140L|TMEM201_uc021ofz.1_5'UTR NM_001130924 NP_001124396 Q5SNT2 TM201_HUMAN Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA. 140 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GCCTTCGCTCCCCGCGAGGAG 0.672000 22 16 0 0 0.00229938 0 0 NRXN3 9369 broad.mit.edu 37 14 79432748 79432748 + Splice_Site SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:79432748G>A uc001xun.3 + 9 2149 c.1658_splice c.e9+1 p.G553_splice NRXN3_uc001xum.1_Splice_Site|NRXN3_uc010asv.1_Splice_Site_p.G678_splice NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 146 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCTTGTCAAGGGGTAAGTAGA 0.418000 48 28 0 0 0.00283554 0 0 MUC16 94025 broad.mit.edu 37 19 9047932 9047932 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9047932C>T uc002mkp.3 - 4 33903 c.33699G>A c.(33697-33699)gaG>gaA p.E11233E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11235 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCTATGGTCTCTGGTTGAC 0.483000 20 10 0 0 0.000442599 0 0 PAK6 56924 broad.mit.edu 37 15 40557141 40557141 + Missense_Mutation SNP C T T rs146905959 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:40557141C>T uc010bbl.3 + 3 595 c.155C>T c.(154-156)cCc>cTc p.P52L PAK6_uc010bbm.3_Missense_Mutation_p.P52L|PAK6_uc001zky.4_Missense_Mutation_p.P52L|PAK6_uc010bbn.3_Missense_Mutation_p.P52L|PAK6_uc001zlb.3_Missense_Mutation_p.P52L NM_001128628 NP_064553 Q9NQU5 PAK6_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA. 52 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.P52L(2) breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CGCCCCAAGCCCGTGGTGGAC 0.617000 40 19 0 0 0.00188189 0 0 GANC 2595 broad.mit.edu 37 15 42619626 42619626 + Missense_Mutation SNP T A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:42619626T>A uc001zpi.3 + 12 1800 c.1486T>A c.(1486-1488)Ttc>Atc p.F496I NM_198141 NP_937784 Q8TET4 GANC_HUMAN Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA. 496 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity p.A495V(1) breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TCTTTTTGCTTTCCCTGTTTA 0.383000 127 46 0 0 0.000781405 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67059550 67059550 + Silent SNP A T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:67059550A>T uc001okd.2 + 5 800 c.630A>T c.(628-630)acA>acT p.T210T ANKRD13D_uc001okc.2_Silent_p.T123T|ANKRD13D_uc001oke.2_Silent_p.T123T NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA. 123 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGCCCGAAACACTGCTGGCCG 0.637000 41 17 0 0 0.00074312 0 0 KCND3 3752 broad.mit.edu 37 1 112329723 112329723 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:112329723C>T uc001ebu.1 - 2 1592 c.1112G>A c.(1111-1113)gGa>gAa p.G371E KCND3_uc001ebv.1_Missense_Mutation_p.G371E NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 371 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CACCATGTCTCCGTATCTGAG 0.522000 51 16 0 0 0.00074312 0 0 POTEF 728378 broad.mit.edu 37 2 130869581 130869581 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:130869581C>T uc010fmh.2 - 5 1304 c.904G>A c.(904-906)Gat>Aat p.D302N NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 302 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CCATATCTATCCAGTGCATTT 0.323000 34 25 0 0 0.00278032 0 0 CRP 1401 broad.mit.edu 37 1 159683618 159683618 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:159683618G>A uc001ftw.3 - 1 476 c.372C>T c.(370-372)atC>atT p.I124I CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 124 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AGAACTCCACGATCCCTGAGG 0.522000 113 117 0 0 0.000781405 0 0 HTR4 3360 broad.mit.edu 37 5 147929700 147929700 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:147929700C>T uc021yfj.1 - 2 199 c.152_splice c.e2+1 p.R51_splice HTR4_uc021yfg.1_Splice_Site_p.R51_splice|HTR4_uc021yfh.1_Splice_Site_p.R51_splice|HTR4_uc010jgu.1_Splice_Site|HTR4_uc021yfi.1_Splice_Site_p.R51_splice|HTR4_uc011dby.1_Splice_Site_p.R51_splice|HTR4_uc003lpn.3_Splice_Site_p.R51_splice|HTR4_uc010jgv.3_Splice_Site|HTR4_uc021yfk.1_Splice_Site_p.R51_splice|SH3TC2_uc003lpp.1_Splice_Site NM_001040173 NP_001035263 Q13639 5HT4R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA. 51 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TGCTGCTCACCTGAGCTGCCT 0.502000 12 12 0 0 0.00136819 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140784766 140784766 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:140784766C>T uc003lkh.2 + 0 2247 c.2247C>T c.(2245-2247)ttC>ttT p.F749F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.F749F NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 759 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGAGCTTTCCTACAGACCT 0.567000 27 37 0 0 0.000692331 0 0 OR4E2 26686 broad.mit.edu 37 14 22134212 22134212 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:22134212G>A uc010tmd.2 + 0 916 c.916G>A c.(916-918)Gtt>Att p.V306I NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GCAGAGACAAGTTTTTTTCAC 0.408000 8 5 0 0 0.000602214 0 0 ATP10D 57205 broad.mit.edu 37 4 47514588 47514588 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:47514588C>T uc003gxk.1 + 1 195 c.31C>T c.(31-33)Cac>Tac p.H11Y ATP10D_uc003gxj.3_Missense_Mutation_p.H11Y NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 11 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GGCCAGATATCACTGGCGACG 0.522000 53 29 0 0 0.00283554 0 0 WIZ 58525 broad.mit.edu 37 19 15538022 15538022 + Silent SNP T G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:15538022T>G uc002nbc.3 - 3 1397 c.1374A>C c.(1372-1374)ccA>ccC p.P458P WIZ_uc002nba.4_Silent_p.P325P|WIZ_uc002nbb.4_Silent_p.P284P NM_021241 NP_067064 O95785 WIZ_HUMAN Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA. 1141 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CCGGTGGTGGTGGCAACTTCT 0.652000 45 9 0 0 0.000978159 0 0 LOC442459 442459 broad.mit.edu 37 X 98975038 98975038 + RNA SNP C A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:98975038C>A uc011mrd.1 - 7 c.1305G>T Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA. GTTGAACTCCCATTCACCGGC 0.517000 17 7 0.00198382 0.00647981 0.00198382 1 0 GFPT1 2673 broad.mit.edu 37 2 69556548 69556550 + Missense_Mutation DNP TA AT AT TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:69556548_69556550TA>AT uc002sfi.2 - 16 1787_1789 c.1604_1606TA>AT c.(1603-1608)attaag>aATag p.535_536IK>N GFPT1_uc002sfh.3_Missense_Mutation_p.517_518IK>N NM_001244710 NP_001231639 Q06210 GFPT1_HUMAN Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA. 535 UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 AGTACTTCCTTAATCAAATCTAA 0.325000 15 8 0 0 6.4e-05 0 0 C19orf21 126353 broad.mit.edu 37 19 758513 758513 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:758513C>T uc002lpo.3 + 1 1650 c.1567C>T c.(1567-1569)Ccc>Tcc p.P523S NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 523 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCCAAGTCCCCCATGTCTG 0.667000 32 12 0 0 0.00136819 0 0 WDR78 79819 broad.mit.edu 37 1 67301341 67301341 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:67301341C>T uc001dcx.3 - 10 1757 c.1701G>A c.(1699-1701)cgG>cgA p.R567R WDR78_uc009waw.3_Silent_p.R313R|WDR78_uc009wax.3_Intron NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA. 567 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 TACTGTTGCTCCGTACATTGT 0.368000 54 23 0 0 0.00278032 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645802 20645802 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:20645802G>A uc001ytg.3 - 19 2983 c.2274C>T c.(2272-2274)tcC>tcT p.S758S HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.S758S|HERC2P3_uc010tyy.2_Silent_p.S758S Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TCCACTGCAGGGAGCTGAGGG 0.617000 11 6 0 0 0.00116845 0 0 NPR2 4882 broad.mit.edu 37 9 35800423 35800423 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:35800423C>T uc003zyd.3 + 4 1161 c.1161C>T c.(1159-1161)gaC>gaT p.D387D NPR2_uc010mlb.3_Silent_p.D387D NM_003995 NP_003986 P20594 ANPRB_HUMAN Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA. 387 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AGAACAATGACCGAGAGACTG 0.527000 89 14 0 0 0.000308642 0 0 OR52D1 390066 broad.mit.edu 37 11 5510608 5510608 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:5510608C>T uc010qzg.2 + 0 694 c.672C>T c.(670-672)atC>atT p.I224I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I224T(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGCTTTATCCTCCATGCAG 0.488000 138 26 0 0 0.00127121 0 0 F8 2157 broad.mit.edu 37 X 154159922 154159922 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:154159922C>T uc004fmt.3 - 13 2314 c.2143G>A c.(2143-2145)Gac>Aac p.D715N NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 715 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCCGAAAGTCTGAGTTGTGG 0.423000 44 23 0 0 0.000586117 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68780325 68780325 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:68780325C>T uc003hdr.1 - 8 1206 c.1085G>A c.(1084-1086)gGa>gAa p.G362E LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.G359E NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA. 362 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 ATCATAAATTCCTTCCATATA 0.358000 68 44 0 0 0.000781405 0 0 LTBP1 4052 broad.mit.edu 37 2 33500129 33500129 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:33500129G>A uc021vft.1 + 16 2864 c.2841G>A c.(2839-2841)atG>atA p.M947I LTBP1_uc002rou.3_Missense_Mutation_p.M621I|LTBP1_uc002rov.3_Missense_Mutation_p.M568I|LTBP1_uc010ymz.2_Missense_Mutation_p.M621I|LTBP1_uc010yna.2_Missense_Mutation_p.M568I NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 947 EGF-like 5; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAGGATTTATGGCCAGTGAGG 0.463000 50 19 0 0 0.00229938 0 0 DNAH10 196385 broad.mit.edu 37 12 124403268 124403268 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:124403268G>A uc001uft.4 + 63 10949 c.10924G>A c.(10924-10926)Gac>Aac p.D3642N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3642 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTTGGACATCGACAGGCTGCG 0.577000 19 9 0 0 0.000673444 0 0 TMED1 11018 broad.mit.edu 37 19 10943869 10943869 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:10943869C>T uc002mpy.3 - 3 602 c.486G>A c.(484-486)cgG>cgA p.R162R DNM2_uc002mpx.1_3'UTR NM_006858 NP_006849 Q13445 TMED1_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 1 (TMED1), mRNA. 162 cell-cell signaling|signal transduction|transport integral to membrane|plasma membrane receptor binding breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1) 10 CCAGCCGGGTCCGCATGGTCT 0.627000 7 6 0 0 0.00116845 0 0 LAMA2 3908 broad.mit.edu 37 6 129837450 129837450 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:129837450G>A uc021zfb.1 + 64 9432 c.9327G>A c.(9325-9327)ctG>ctA p.L3109L LAMA2_uc003qbn.3_Silent_p.L3107L|LAMA2_uc003qbo.3_Silent_p.L3103L|BC035400_uc003qbq.3_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 3109 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCAAGGCCCTGGAACTGAGGG 0.463000 39 20 0 0 0.00121646 0 0 WDR90 197335 broad.mit.edu 37 16 706315 706315 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:706315C>T uc002cii.1 + 17 2034 c.1980C>T c.(1978-1980)ccC>ccT p.P660P WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.P187P|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 660 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ACGAGGGCCCCGTCAGCTCAG 0.697000 16 5 0 0 0.00116845 0 0 ZNF812 729648 broad.mit.edu 37 19 9801338 9801338 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:9801338C>T uc021uop.1 - 5 1487 c.841G>A c.(841-843)Gaa>Aaa p.E281K ZNF812_uc010xkx.2_Missense_Mutation_p.E177K NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCCCACATTCCGTATATTTG 0.378000 46 12 0 0 0.00136819 0 0 FAM123C 205147 broad.mit.edu 37 2 131520521 131520521 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:131520521G>A uc021voy.1 + 0 876 c.876G>A c.(874-876)gtG>gtA p.V292V FAM123C_uc002trw.2_Silent_p.V292V|FAM123C_uc010fmv.2_Silent_p.V292V|FAM123C_uc010fms.1_Silent_p.V292V|FAM123C_uc010fmt.1_Silent_p.V292V|FAM123C_uc010fmu.1_Silent_p.V292V NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 292 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) AGGGCAGTGTGGAGCAGCTGG 0.652000 45 9 0 0 0.000442599 0 0 SALL1 6299 broad.mit.edu 37 16 51172871 51172871 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:51172871C>T uc021tif.1 - 1 3293 c.2971G>A c.(2971-2973)Gag>Aag p.E991K SALL1_uc021tid.1_Missense_Mutation_p.E991K|SALL1_uc021tie.1_Missense_Mutation_p.E1088K|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 1088 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCGTTGACCTCTGTCTTGATG 0.562000 47 23 0 0 0.00278032 0 0 COL2A1 1280 broad.mit.edu 37 12 48376908 48376908 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:48376908C>T uc001rqu.3 - 31 2243 c.2062G>A c.(2062-2064)Gaa>Aaa p.E688K COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.E619K NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 688 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GCTCCAGCTTCACCGGGAACA 0.577000 7 4 0 0 0.00024832 0 0 SIDT1 54847 broad.mit.edu 37 3 113300282 113300282 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:113300282C>T uc021xcn.1 + 5 1389 c.738C>T c.(736-738)atC>atT p.I246I SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.I246I|SIDT1_uc011big.2_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 246 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AAGCTGCCATCACGCTACAGG 0.468000 35 22 0 0 0.00229938 0 0 OR6S1 341799 broad.mit.edu 37 14 21109838 21109838 + Missense_Mutation SNP C A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr14:21109838C>A uc001vxv.1 - 0 13 c.13G>T c.(13-15)Ggg>Tgg p.G5W NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA. 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CTGTGGTTCCCATCAGGACTC 0.438000 70 5 0.00198382 0.00647981 0.00198382 1 0 CLEC5A 23601 broad.mit.edu 37 7 141643748 141643748 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:141643748C>T uc003vwv.1 - 3 353 c.156G>A c.(154-156)ggG>ggA p.G52G CLEC5A_uc011krm.1_Intron|CLEC5A_uc003vww.1_Silent_p.G52G|CLEC5A_uc010lnq.1_Intron|CLEC5A_uc010lnr.1_Intron NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 52 anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity p.G52W(1) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GGGAACTGCTCCCAAAAATCT 0.438000 92 72 0 0 0.000781405 0 0 ABCB5 340273 broad.mit.edu 37 7 20767987 20767987 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:20767987C>T uc010kuh.3 + 22 3013 c.2776C>T c.(2776-2778)Cat>Tat p.H926Y ABCB5_uc003suw.4_Missense_Mutation_p.H481Y|ABCB5_uc003sux.1_Missense_Mutation_p.H104Y NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 481 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TGCATTCAGCCATGCCTTTAT 0.403000 105 35 0 0 0.000692331 0 0 CLSPN 63967 broad.mit.edu 37 1 36230223 36230223 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:36230223G>A uc001bzi.3 - 2 306 c.226C>T c.(226-228)Cca>Tca p.P76S CLSPN_uc009vux.3_Missense_Mutation_p.P76S NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN Homo sapiens claspin (CLSPN), transcript variant 1, mRNA. 76 DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm DNA binding|anaphase-promoting complex binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTTTCTCTGGAGAGGCATTT 0.373000 44 14 0 0 0.000566183 0 0 ATP7A 538 broad.mit.edu 37 X 77245370 77245370 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:77245370A>C uc004ecx.4 + 3 1412 c.1252A>C c.(1252-1254)Act>Cct p.T418P ATP7A_uc004ecw.2_Missense_Mutation_p.T418P NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 418 HMA 4. ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TAGCAATGGGACTGTTGAGTA 0.408000 93 20 0 0 0.00152264 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74701860 74701860 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:74701860G>A uc001dge.2 + 3 485 c.418G>A c.(418-420)Gaa>Aaa p.E140K FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.E140K|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E140K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E39K NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 39 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GCAGATCAAGGAAAAAGAACT 0.299000 77 37 0 0 0.00128727 0 0 MST1P9 11223 broad.mit.edu 37 1 17087458 17087458 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:17087458C>T uc010ock.2 - 1 207 c.207G>A c.(205-207)atG>atA p.M69I CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 ACCAGCAGTCCATTAAGGGCC 0.627000 125 7 0 0 0.000274275 0 0 NIPBL 25836 broad.mit.edu 37 5 37052538 37052538 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:37052538C>T uc003jkl.4 + 41 7632 c.7133C>T c.(7132-7134)cCt>cTt p.P2378L NIPBL_uc003jkk.4_Missense_Mutation_p.P2378L|NIPBL_uc003jkn.3_Missense_Mutation_p.P71L NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 2378 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTAAAAGATCCTGTAAGGGGT 0.433000 39 18 0 0 0.00074312 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310792 75310792 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:75310792G>A uc002azn.2 + 5 640 c.453G>A c.(451-453)acG>acA p.T151T SCAMP5_uc002azl.2_Silent_p.T143T|SCAMP5_uc002azm.2_Silent_p.T143T|SCAMP5_uc002azk.2_Silent_p.T143T|SCAMP5_uc010uly.2_Silent_p.T72T NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA. 143 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TCTTCGGAACGAACATTGGCT 0.592000 127 54 0 0 0.000781405 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535870 69535870 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:69535870G>A uc021xow.1 - 0 625 c.467C>T c.(466-468)cCc>cTc p.P156L NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 156 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CTCACCACAGGGATTAAGGGC 0.393000 244 92 0 0 0.000781405 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955401 18955401 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:18955401C>T uc001mpg.3 - 0 1149 c.931G>A c.(931-933)Gaa>Aaa p.E311K NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 311 EEI -> QET (in Ref. 2; AAL86880). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCCAGGATTTCCTCAGGAAGC 0.567000 50 9 0 0 0.000274275 0 0 ALAS2 212 broad.mit.edu 37 X 55043923 55043923 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:55043923C>T uc004dua.4 - 6 1137 c.999G>A c.(997-999)atG>atA p.M333I ALAS2_uc004dub.4_Missense_Mutation_p.M320I|ALAS2_uc004dud.4_Missense_Mutation_p.M296I NM_000032 NP_000023 P22557 HEM0_HUMAN Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 333 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) ACATACCATCCATGGAGTGGA 0.393000 70 34 0 0 0.000692331 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr17:7578263G>A uc002gim.2 - 5 780 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 8 0 0 0.000442599 0 0 NAB1 4664 broad.mit.edu 37 2 191524549 191524549 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:191524549A>G uc002usb.3 + 3 1219 c.647A>G c.(646-648)aAt>aGt p.N216S NAB1_uc010fsc.3_Missense_Mutation_p.N216S|NAB1_uc010fsd.3_Missense_Mutation_p.N216S|NAB1_uc002usc.3_Missense_Mutation_p.N216S|NAB1_uc010zgh.2_Missense_Mutation_p.N216S NM_005966 NP_005957 Q13506 NAB1_HUMAN Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA. 216 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) AGTGACTTGAATGAAGTGAAA 0.493000 33 8 0 0 0.000442599 0 0 TUBB2A 7280 broad.mit.edu 37 6 3155866 3155866 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:3155866G>A uc003mvc.3 - 2 356 c.270C>T c.(268-270)ttC>ttT p.F90F TUBB2A_uc003mvb.3_Silent_p.F83F NM_001069 NP_001060 Q13885 TBB2A_HUMAN Homo sapiens tubulin, beta 2A class IIa (TUBB2A), mRNA. 90 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) TACCGAACACGAAGTTGTCTG 0.517000 32 10 0 0 0.00136819 0 0 GRIA4 2893 broad.mit.edu 37 11 105483100 105483100 + Silent SNP T C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:105483100T>C uc001pix.2 + 2 632 c.186T>C c.(184-186)ttT>ttC p.F62F GRIA4_uc001piu.1_Silent_p.F62F|GRIA4_uc001piw.2_Silent_p.F62F|GRIA4_uc001piv.3_Silent_p.F62F|GRIA4_uc009yxk.1_Silent_p.F62F|GRIA4_uc001pit.3_Silent_p.F62F NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 62 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.P61A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AAGCTCCTTTTAATTTGGTAC 0.398000 47 31 0 0 0.000814825 0 0 IL21 59067 broad.mit.edu 37 4 123542116 123542116 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:123542116G>A uc003ies.2 - 0 96 c.51C>T c.(49-51)gtC>gtT p.V17V BC045668_uc003iet.3_Non-coding_Transcript|IL21_uc010int.3_Silent_p.V17V NM_021803 NP_068575 Q9HBE4 IL21_HUMAN Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA. 10 cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 CCAAGAAGATGACCATCAGAC 0.443000 52 27 0 0 0.000878237 0 0 TTN 7273 broad.mit.edu 37 2 179584546 179584546 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:179584546G>A uc021vsy.1 - 78 20166 c.19941C>T c.(19939-19941)atC>atT p.I6647I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I3308I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7574 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTCTCTATGATTCTTGCTG 0.393000 24 9 0 0 0.000274275 0 0 FOXF1 2294 broad.mit.edu 37 16 86544358 86544358 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:86544358C>T uc002fjl.3 + 0 226 c.183C>T c.(181-183)atC>atT p.I61I FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN Homo sapiens forkhead box F1 (FOXF1), mRNA. 61 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 TCATGGCCATCCAGAGTTCAC 0.642000 28 12 0 0 0.00185496 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361437 83361437 + Missense_Mutation SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:83361437A>G uc004eej.2 - 14 1337 c.1301T>C c.(1300-1302)gTt>gCt p.V434A RPS6KA6_uc011mqt.2_Missense_Mutation_p.V434A|RPS6KA6_uc011mqu.2_Missense_Mutation_p.V331A NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 434 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GTAGGAGCCAACACCAATATC 0.348000 11 4 0 0 0.00024832 0 0 CALD1 800 broad.mit.edu 37 7 134625906 134625906 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:134625906C>T uc003vrz.3 + 6 1916 c.1450C>T c.(1450-1452)Cga>Tga p.R484* CALD1_uc003vry.3_Nonsense_Mutation_p.R229*|CALD1_uc003vsb.3_Nonsense_Mutation_p.R229*|CALD1_uc011kpt.2_Nonsense_Mutation_p.R3*|CALD1_uc010lmm.3_Nonsense_Mutation_p.R255*|CALD1_uc003vsc.3_Nonsense_Mutation_p.R249*|CALD1_uc003vsd.3_Nonsense_Mutation_p.R223*|CALD1_uc011kpu.2_Nonsense_Mutation_p.R234*|CALD1_uc011kpv.2_Nonsense_Mutation_p.R93*|CALD1_uc003vse.3_Nonsense_Mutation_p.R348* NM_033138 NP_149129 Q05682 CALD1_HUMAN Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA. 484 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding p.R484G(2) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 CTTCATGGATCGAAAGAAGGG 0.358000 46 20 0 0 0.00152264 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564867 47564867 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:47564867C>T uc001cqu.1 + 7 981 c.978C>T c.(976-978)atC>atT p.I326I NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 326 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TCTCCTGGATCCTTTACTGCT 0.478000 35 22 0 0 0.00229938 0 0 TMEM37 140738 broad.mit.edu 37 2 120194514 120194514 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:120194514C>T uc002tly.3 + 1 105 c.71C>T c.(70-72)tCc>tTc p.S24F NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN Homo sapiens transmembrane protein 37 (TMEM37), mRNA. 24 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TTCTTTGAATCCTTCATCCGG 0.627000 47 28 0 0 0.00106085 0 0 AIFM1 9131 broad.mit.edu 37 X 129263945 129263945 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:129263945C>T uc004evg.3 - 15 2001 c.1770_splice c.e15+1 p.K590_splice AIFM1_uc011mur.2_Splice_Site_p.K238_splice|AIFM1_uc011mus.2_Splice_Site|AIFM1_uc004evh.3_Splice_Site_p.K586_splice|AIFM1_uc004evi.3_Splice_Site_p.K303_splice|AIFM1_uc004evk.3_Splice_Site_p.K238_splice NM_004208 NP_004199 O95831 AIFM1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 590 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 AGGCACCTACCTTCCTTGCTA 0.502000 89 14 0 0 0.000566183 0 0 LRBA 987 broad.mit.edu 37 4 151388908 151388908 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:151388908G>A uc010ipj.3 - 44 6974 c.6730C>T c.(6730-6732)Cca>Tca p.P2244S LRBA_uc010ipi.3_5'UTR|LRBA_uc003ils.4_Missense_Mutation_p.P134S|LRBA_uc003ilt.4_Missense_Mutation_p.P892S|LRBA_uc003ilu.4_Missense_Mutation_p.P2233S NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2244 BEACH. Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GGAAACACTGGATACTGATTT 0.323000 58 19 0 0 0.00188189 0 0 MLL 4297 broad.mit.edu 37 11 118390453 118390453 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:118390453C>T uc001pta.3 + 31 11281 c.11258C>T c.(11257-11259)gCc>gTc p.A3753V MLL_uc001ptb.3_Missense_Mutation_p.A3756V NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 3753 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CCAGAGGAGGCCAATGAACCC 0.517000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 52 22 0 0 0.00278032 0 0 CDC37L1 55664 broad.mit.edu 37 9 4697103 4697103 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:4697103G>A uc003zio.3 + 3 718 c.516G>A c.(514-516)ttG>ttA p.L172L NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA. 172 Self-association and interaction with Hsp90. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) CAGGTATGTTGAGTCGATGGG 0.338000 45 6 0 0 0.00198382 0 0 MALT1 10892 broad.mit.edu 37 18 56390461 56390461 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:56390461C>T uc002lhm.1 + 9 1458 c.1200C>T c.(1198-1200)ctC>ctT p.L400L MALT1_uc002lhn.1_Silent_p.L389L NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA. 400 Caspase-like. T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 AGTTTTTACTCCTTTTAGACA 0.313000 T BIRC3 MALT 45 13 0 0 0.00185496 0 0 CBFA2T3 863 broad.mit.edu 37 16 88967966 88967966 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:88967966G>A uc002fmm.2 - 1 539 c.250C>T c.(250-252)Ccg>Tcg p.P84S CBFA2T3_uc002fml.2_Missense_Mutation_p.P23S|CBFA2T3_uc010cif.1_Missense_Mutation_p.P23S|CBFA2T3_uc002fmn.2_Missense_Mutation_p.P84S NM_005187 NP_005178 O75081 MTG16_HUMAN Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA. 84 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCGGCAGGCGGTGGGGGCGGC 0.697000 T RUNX1 AML 26 10 0 0 0.000978159 0 0 C19orf21 126353 broad.mit.edu 37 19 757679 757679 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr19:757679G>A uc002lpo.3 + 1 816 c.733G>A c.(733-735)Gtt>Att p.V245I NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 245 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGCACGTGGTTCCCATCAA 0.662000 15 9 0 0 0.000978159 0 0 INPP5J 27124 broad.mit.edu 37 22 31522380 31522380 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr22:31522380G>A uc003aju.4 + 2 1382 c.1290G>A c.(1288-1290)tgG>tgA p.W430* INPP5J_uc010gwf.3_Nonsense_Mutation_p.W430*|INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Nonsense_Mutation_p.W62*|INPP5J_uc003ajv.4_Nonsense_Mutation_p.W63*|INPP5J_uc003ajs.4_Nonsense_Mutation_p.W63*|INPP5J_uc011alk.2_Nonsense_Mutation_p.W363*|INPP5J_uc010gwg.3_5'UTR NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA. 430 Catalytic (Potential). cytoplasm|ruffle SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 TGGTCACATGGAACGTGGGCA 0.612000 94 45 0 0 0.000781405 0 0 MYO5B 4645 broad.mit.edu 37 18 47402197 47402197 + Splice_Site SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr18:47402197C>T uc002leb.2 - 26 3685 c.3397_splice c.e26-1 p.E1133_splice MYO5B_uc002lea.2_Splice_Site_p.E274_splice NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1133 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AGGCCAATTTCCTTCAAAGGA 0.498000 74 23 0 0 0.000720815 0 0 COL11A1 1301 broad.mit.edu 37 1 103461558 103461558 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:103461558G>A uc001dum.3 - 26 2636 c.2318C>T c.(2317-2319)cCc>cTc p.P773L COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P761L|COL11A1_uc001dun.3_Missense_Mutation_p.P722L|COL11A1_uc009weh.3_Missense_Mutation_p.P645L NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 761 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TACTCCCCGGGGGCCCGGGTA 0.378000 63 31 0 0 0.00058488 0 0 PRKCB 5579 broad.mit.edu 37 16 24231416 24231416 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr16:24231416G>A uc002dmd.3 + 16 2195 c.1998G>A c.(1996-1998)gaG>gaA p.E666E PRKCB_uc002dme.3_3'UTR NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 666 AGC-kinase C-terminal. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTAACCCAGAGTTTGTCATTA 0.433000 50 32 0 0 0.00148497 0 0 ZNF215 7762 broad.mit.edu 37 11 6977047 6977047 + Nonsense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:6977047G>A uc001mey.3 + 6 1427 c.839G>A c.(838-840)tGg>tAg p.W280* ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.W42*|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN Homo sapiens zinc finger protein 215 (ZNF215), mRNA. 280 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CAGAAAAAATGGGACATAAAT 0.378000 60 37 0 0 0.00111076 0 0 C9orf131 138724 broad.mit.edu 37 9 35045666 35045666 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:35045666G>A uc003zvw.3 + 1 3069 c.3040G>A c.(3040-3042)Ggt>Agt p.G1014S C9orf131_uc003zvu.3_Missense_Mutation_p.G966S|C9orf131_uc003zvv.3_Missense_Mutation_p.G941S|C9orf131_uc003zvx.3_Missense_Mutation_p.G979S NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 1014 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CAAAGCTTCGGGTCCCCAGGA 0.577000 26 19 0 0 0.00074312 0 0 TUBA4A 7277 broad.mit.edu 37 2 220115512 220115512 + Silent SNP T C C rs141922502 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:220115512T>C uc002vkt.1 - 3 967 c.909A>G c.(907-909)gtA>gtG p.V303V TUBA4A_uc010zkz.1_Silent_p.V288V|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA. 303 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GATCACACTTTACCATCTGGT 0.567000 59 28 0 0 0.00178596 0 0 LRBA 987 broad.mit.edu 37 4 151392883 151392883 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:151392883G>A uc010ipj.3 - 43 6837 c.6593C>T c.(6592-6594)tCa>tTa p.S2198L LRBA_uc003ils.4_Missense_Mutation_p.S88L|LRBA_uc003ilt.4_Missense_Mutation_p.S846L|LRBA_uc003ilu.4_Missense_Mutation_p.S2187L NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 2198 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ACTAGCTAATGAAATACGTCT 0.313000 61 30 0 0 0.00283554 0 0 FAT1 2195 broad.mit.edu 37 4 187541133 187541133 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:187541133G>A uc003izf.3 - 9 6795 c.6607C>T c.(6607-6609)Cac>Tac p.H2203Y NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 2203 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCCTGCACGTGGACCACAGGG 0.488000 HNSCC(5;0.00058) 97 35 0 0 0.00128727 0 0 PLXNB3 5365 broad.mit.edu 37 X 153032887 153032887 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:153032887C>T uc010nuk.2 + 3 945 c.674C>T c.(673-675)cCc>cTc p.P225L PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.P202L|PLXNB3_uc011mzd.1_Intron NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 202 Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGTGCCACCCCTGGCCATC 0.711000 25 4 0 0 0.00024832 0 0 SPRED1 161742 broad.mit.edu 37 15 38643623 38643623 + Nonsense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:38643623C>T uc001zka.4 + 6 1428 c.1093C>T c.(1093-1095)Caa>Taa p.Q365* NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA. 365 SPR. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ATGCATATATCAAGTTAGTTG 0.428000 Legius syndrome 84 38 0 0 0.000953801 0 0 DOCK9 23348 broad.mit.edu 37 13 99538816 99538816 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr13:99538816G>A uc001vnt.2 - 18 2164 c.2109C>T c.(2107-2109)caC>caT p.H703H DOCK9_uc001vnw.2_Silent_p.H702H|DOCK9_uc021rlw.1_Silent_p.H702H|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.H703H|DOCK9_uc010tis.1_Silent_p.H702H|DOCK9_uc010tit.1_Silent_p.H703H|DOCK9_uc010afu.1_Silent_p.H518H NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 703 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTTGGTGATGGTGTAAAACTG 0.403000 32 8 0 0 0.000442599 0 0 VSIG1 340547 broad.mit.edu 37 X 107316583 107316583 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:107316583C>T uc011msk.2 + 5 941 c.780C>T c.(778-780)atC>atT p.I260I VSIG1_uc004eno.3_Silent_p.I224I NM_001170553 NP_001164024 Q86XK7 VSIG1_HUMAN Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA. 224 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CCTGCGAAATCGATCTCACTT 0.413000 222 48 0 0 0.000781405 0 0 PLCB4 5332 broad.mit.edu 37 20 9402023 9402023 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:9402023C>T uc021wam.1 + 22 2213 c.2198C>T c.(2197-2199)aCc>aTc p.T733I PLCB4_uc010gbw.1_Missense_Mutation_p.T733I|PLCB4_uc010gbx.3_Missense_Mutation_p.T745I|PLCB4_uc021wal.1_Missense_Mutation_p.T733I|PLCB4_uc002wnh.3_Missense_Mutation_p.T580I NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 733 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CCCACTGACACCATACGTAAG 0.413000 47 23 0 0 0.00188189 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667861 70667861 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:70667861G>A uc003xyl.3 - 3 1763 c.1056C>T c.(1054-1056)ctC>ctT p.L352L SLCO5A1_uc010lzb.3_Silent_p.L352L|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.L352L|SLCO5A1_uc010lzc.2_Silent_p.L352L NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 352 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGGCACAAAGGAGGAATCCAC 0.343000 24 13 0 0 0.00136819 0 0 ACOT8 10005 broad.mit.edu 37 20 44477272 44477272 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:44477272C>T uc002xqa.2 - 2 399 c.305G>A c.(304-306)cGa>cAa p.R102Q ACOT8_uc010zxe.2_Missense_Mutation_p.R102Q|ACOT8_uc002xqc.2_Missense_Mutation_p.R49Q|ACOT8_uc010zxf.2_Intron NM_005469 NP_005460 O14734 ACOT8_HUMAN Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA. 102 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding kidney(2)|large_intestine(3)|lung(4)|skin(1) 10 Myeloproliferative disorder(115;0.0122) CGACCCTGTTCGTGTCCGCTC 0.627000 34 9 0 0 0.000673444 0 0 ALG10B 144245 broad.mit.edu 37 12 38714839 38714839 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:38714839C>T uc001rln.4 + 2 1385 c.1246C>T c.(1246-1248)Cgt>Tgt p.R416C NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA. 416 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) GCTGGAATTTCGTTACTTCAT 0.333000 118 41 0 0 0.000781405 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678062 25678062 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr4:25678062G>A uc003grr.3 + 12 1845 c.1764G>A c.(1762-1764)caG>caA p.Q588Q SLC34A2_uc003grs.3_Silent_p.Q587Q|SLC34A2_uc010iev.3_Silent_p.Q587Q NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 588 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) AGAAACTCCAGAACTGGAACT 0.612000 T ROS1 NSCLC 91 38 0 0 0.0025221 0 0 VIL1 7429 broad.mit.edu 37 2 219301212 219301212 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:219301212G>A uc002vib.3 + 14 1856 c.1834G>A c.(1834-1836)Gaa>Aaa p.E612K VIL1_uc010zke.2_Missense_Mutation_p.E301K|VIL1_uc002via.3_Missense_Mutation_p.E612K NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 612 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGACTACAGGAAGAAAACCT 0.512000 143 62 0 0 0.000781405 0 0 AOAH 313 broad.mit.edu 37 7 36570058 36570058 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:36570058G>A uc022abu.1 - 18 1889 c.1488C>T c.(1486-1488)ttC>ttT p.F496F AOAH_uc003tfh.4_Silent_p.F496F|AOAH_uc011kba.2_Silent_p.F464F NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 496 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AGAAAAGATTGAAGTTTGTAA 0.403000 41 19 0 0 0.00152264 0 0 LRRC6 23639 broad.mit.edu 37 8 133584601 133584601 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:133584601C>T uc003ytk.3 - 11 1428 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K LRRC6_uc022bbp.1_Missense_Mutation_p.E452K|LRRC6_uc003ytl.3_Non-coding_Transcript NM_012472 NP_036604 Q86X45 LRRC6_HUMAN Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA. 452 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTTGGGTCTTCCTCACTTGGT 0.478000 108 39 0 0 0.00148497 0 0 CYP2C9 1559 broad.mit.edu 37 10 96741125 96741125 + Nonsense_Mutation SNP A T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:96741125A>T uc001kka.4 + 6 1172 c.1147A>T c.(1147-1149)Aag>Tag p.K383* CYP2C9_uc009xut.3_Nonsense_Mutation_p.K381* NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 383 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TCTCATTCCCAAGGTAAGTTT 0.458000 43 16 0 0 0.000422831 0 0 SYNJ1 8867 broad.mit.edu 37 21 34072313 34072313 + Missense_Mutation SNP G A A rs146507597 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:34072313G>A uc002yqh.2 - 3 431 c.431C>T c.(430-432)tCa>tTa p.S144L SYNJ1_uc011ads.1_Missense_Mutation_p.S105L|SYNJ1_uc002yqf.2_Missense_Mutation_p.S105L|SYNJ1_uc002yqg.2_Missense_Mutation_p.S105L|SYNJ1_uc002yqi.2_Missense_Mutation_p.S144L NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 105 SAC. RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GATTCGCAGTGATATAAACTC 0.383000 27 20 0 0 0.000958276 0 0 PTPRO 5800 broad.mit.edu 37 12 15661550 15661550 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:15661550A>C uc001rcv.2 + 6 1783 c.1313A>C c.(1312-1314)cAc>cCc p.H438P PTPRO_uc001rcw.2_Missense_Mutation_p.H438P|PTPRO_uc001rcu.2_Missense_Mutation_p.H438P NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 438 Fibronectin type-III 5. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.H438H(1) NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AAGCCGCAGCACGTGAGTGTC 0.502000 25 14 0 0 0.000422831 0 0 FBXL7 23194 broad.mit.edu 37 5 15928108 15928108 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr5:15928108C>T uc003jfn.1 + 2 718 c.237C>T c.(235-237)tcC>tcT p.S79S NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA. 79 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCTCGTCCTCCATCACCGGGG 0.657000 11 13 0 0 0.00185496 0 0 PLCB4 5332 broad.mit.edu 37 20 9317777 9317777 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:9317777C>T uc021wam.1 + 1 104 c.89C>T c.(88-90)tCc>tTc p.S30F PLCB4_uc010gbw.1_Missense_Mutation_p.S30F|PLCB4_uc010gbx.3_Missense_Mutation_p.S30F|PLCB4_uc021wal.1_Missense_Mutation_p.S30F NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 30 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TGACAGGAATCCTTTGTGTTT 0.373000 64 20 0 0 0.00278032 0 0 AOAH 313 broad.mit.edu 37 7 36616204 36616204 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr7:36616204C>T uc022abu.1 - 12 1398 c.997G>A c.(997-999)Gac>Aac p.D333N AOAH_uc003tfh.4_Missense_Mutation_p.D333N|AOAH_uc011kba.2_Missense_Mutation_p.D301N NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 333 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TTCTGGTAGTCCCTGTGATTA 0.308000 161 32 0 0 0.00128727 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204401437 204401437 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:204401437C>T uc001haw.3 - 27 4525 c.4046G>A c.(4045-4047)cGg>cAg p.R1349Q PIK3C2B_uc010pqv.2_Missense_Mutation_p.R1321Q NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 1349 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R1349W(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GAGGGTCAGCCGGTCATCTGA 0.527000 93 27 0 0 0.00106085 0 0 RP1L1 94137 broad.mit.edu 37 8 10467773 10467773 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr8:10467773C>T uc003wtc.3 - 3 4064 c.3835G>A c.(3835-3837)Gac>Aac p.D1279N NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1279 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCTCACTGTCTCTTTCTGCT 0.517000 108 43 0 0 0.000781405 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215620 50215620 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr15:50215620G>A uc001zxu.3 - 16 1856 c.1714C>T c.(1714-1716)Cct>Tct p.P572S ATP8B4_uc010ber.3_Missense_Mutation_p.P445S|ATP8B4_uc010ufd.2_Missense_Mutation_p.P382S|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 572 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCATTGGAAGGATGAAGTTTT 0.408000 29 11 0 0 0.00136819 0 0 ARNT 405 broad.mit.edu 37 1 150804825 150804825 + Missense_Mutation SNP A C C TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:150804825A>C uc001evr.2 - 8 1055 c.854T>G c.(853-855)gTg>gGg p.V285G ARNT_uc001evs.2_Missense_Mutation_p.V270G|ARNT_uc009wmd.2_Missense_Mutation_p.V270G|ARNT_uc009wmb.2_Missense_Mutation_p.V276G|ARNT_uc009wmc.2_Missense_Mutation_p.V285G|ARNT_uc009wme.2_Missense_Mutation_p.V285G|ARNT_uc010pcl.2_Missense_Mutation_p.V269G NM_001668 NP_001659 P27540 ARNT_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA. 285 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTGTTCCTCACAAAGCTCAG 0.438000 T ETV6 AML 134 27 0 0 0.001512 0 0 C6orf165 154313 broad.mit.edu 37 6 88173827 88173827 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr6:88173827G>A uc003plv.3 + 12 1851 c.1728G>A c.(1726-1728)aaG>aaA p.K576K SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Silent_p.K388K|C6orf165_uc010kbv.2_Non-coding_Transcript NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA. 576 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ACCCTCCAAAGGACACTAGCA 0.478000 27 15 0 0 0.000308642 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 25551 25551 + RNA SNP A G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrGL000241.1:25551A>G uc011mgv.2 - 3 c.441T>C Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. ATCCATTTCAATGGCTATGGT 0.378000 355 10 0 0 0.000422831 0 0 SPRYD3 84926 broad.mit.edu 37 12 53470996 53470996 + Silent SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:53470996G>A uc001sbt.2 - 1 160 c.73C>T c.(73-75)Ctg>Ttg p.L25L SPRYD3_uc010snw.2_5'UTR NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA. 25 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CGCCAATTCAGAAACCGGTAG 0.507000 30 11 0 0 0.000978159 0 0 RBM11 54033 broad.mit.edu 37 21 15592007 15592007 + Missense_Mutation SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr21:15592007C>T uc002yjo.4 + 1 262 c.220C>T c.(220-222)Cgt>Tgt p.R74C RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 74 RRM. RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GAATGGAATTCGTTTATATGG 0.388000 34 19 0 0 0.00074312 0 0 HERC4 26091 broad.mit.edu 37 10 69752044 69752044 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr10:69752044G>A uc001jng.4 - 10 1494 c.1183C>T c.(1183-1185)Ccg>Tcg p.P395S HERC4_uc009xpq.3_5'UTR|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Missense_Mutation_p.P395S|HERC4_uc009xpr.3_Missense_Mutation_p.P395S|HERC4_uc001jni.4_Missense_Mutation_p.P139S|HERC4_uc021prr.1_5'Flank NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA. 395 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 TGCTTTGTCGGATTGGGACAT 0.393000 44 34 0 0 0.000953801 0 0 P2RY2 5029 broad.mit.edu 37 11 72946179 72946179 + Silent SNP C T T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr11:72946179C>T uc021qna.1 + 0 975 c.975C>T c.(973-975)ggC>ggT p.G325G P2RY2_uc001otk.3_Silent_p.G325G|P2RY2_uc001otj.3_Silent_p.G325G|P2RY2_uc001otl.3_Silent_p.G325G NM_176072 NP_788086 P41231 P2RY2_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA. 325 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CACCCACTGGCCCCAGCCCTG 0.642000 28 7 0 0 0.000274275 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808712 48808712 + Missense_Mutation SNP G A A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:48808712G>A uc002rwp.2 + 1 1054 c.940G>A c.(940-942)Gga>Aga p.G314R STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G314R|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.G314R|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.G314R|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G314R NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 314 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTATGAACAGGGATTAGAAAA 0.393000 79 36 0 0 0.000814825 0 0 C1orf173 127254 broad.mit.edu 37 1 75037784 75037784 + Frame_Shift_Del DEL G - - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr1:75037784delG uc001dgg.3 - 13 3829 c.3610delC c.(3610-3612)ctgfs p.L1204fs NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1204 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTTCCTTCAGGGCCCTATTC 0.587 --- 149 --- --- 48 --- KIAA1715 80856 broad.mit.edu 37 2 176857060 176857060 + Frame_Shift_Del DEL A - - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr2:176857060delA uc010fqw.1 - 3 354 c.354delT c.(352-354)gttfs p.V118fs KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc002ukc.1_Frame_Shift_Del_p.V52fs|KIAA1715_uc010zer.1_Frame_Shift_Del_p.V52fs|KIAA1715_uc010zet.1_Non-coding_Transcript Q9C0E8 LNP_HUMAN Homo sapiens KIAA1715 (KIAA1715), mRNA. 52 integral to membrane protein binding p.K118T(1) endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ACAGATAGAGAACTGAGGAAT 0.323 --- 40 --- --- 14 --- KLHL24 54800 broad.mit.edu 37 3 183390139 183390139 + Frame_Shift_Del DEL T - - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr3:183390139delT uc003flv.3 + 6 1764 c.1469delT c.(1468-1470)attfs p.I490fs KLHL24_uc003flw.3_Frame_Shift_Del_p.I490fs|KLHL24_uc003flx.3_Frame_Shift_Del_p.I490fs NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA. 490 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GCTATCCCAATTGCCAAAAGG 0.348 --- 72 --- --- 9 --- TPRN 286262 broad.mit.edu 37 9 140094220 140094221 + Frame_Shift_Ins INS - GG GG TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr9:140094220_140094221insGG uc004clt.3 - 0 943_944 c.943_944insCC c.(943-945)ctcfs p.L315fs TPRN_uc004clu.3_Frame_Shift_Ins_p.L315fs NM_001128228 NP_001121700 Q4KMQ1 TPRN_HUMAN Homo sapiens taperin (TPRN), mRNA. 315 sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 CCGGGCCTGGAGGTCCCCCAAG 0.653 --- 23 --- --- 9 --- SLCO1C1 53919 broad.mit.edu 37 12 20874883 20874883 + Frame_Shift_Del DEL T - - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:20874883delT uc010sii.2 + 8 1276 c.921delT c.(919-921)gatfs p.D307fs SLCO1C1_uc010sij.2_Frame_Shift_Del_p.D258fs|SLCO1C1_uc009zip.3_Frame_Shift_Del_p.D141fs|SLCO1C1_uc001rei.3_Frame_Shift_Del_p.D307fs|SLCO1C1_uc010sik.2_Frame_Shift_Del_p.D189fs NM_001145946 NP_001139416 Q9NYB5 SO1C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA. 307 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GTAGAGAGGATTCTAATTCTT 0.398 --- 33 --- --- 9 --- ERBB3 2065 broad.mit.edu 37 12 56490961 56490962 + Frame_Shift_Ins INS - G G TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr12:56490961_56490962insG uc001sjh.3 + 19 2683_2684 c.2407_2408insG c.(2407-2409)cggfs p.R803fs ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Frame_Shift_Ins_p.R160fs|ERBB3_uc010sqc.2_Frame_Shift_Ins_p.R744fs|ERBB3_uc009zok.3_Intron|ERBB3_uc001sjk.3_Frame_Shift_Ins_p.R44fs NM_001982 NP_001973 P21860 ERBB3_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA. 803 Protein kinase. Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GAGACAACACCGGGGGGCACTG 0.540 --- 65 --- --- 21 --- SLC23A2 9962 broad.mit.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G - - rs138961929 TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chr20:4850569delG uc002wlg.1 - 11 1608 c.1233delC c.(1231-1233)cccfs p.P411fs SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.3_Frame_Shift_Del_p.P410fs NM_005116 NP_976072 Q9UGH3 S23A2_HUMAN Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA. 411 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity p.I412fs*4(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCGTGGATGGGGGGGGGTG 0.527 --- 157 --- --- 9 --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT - - TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:140994844_140994846delCCT uc004fbt.3 + 3 1978_1980 c.1654_1656delCCT c.(1654-1656)cctdel p.P553del MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_In_Frame_Del_p.P212del NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) --- 381 --- --- 9 --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC - - rs7877654 byFrequency TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21b8363b-b36f-42c6-a9f7-f103c1355869 13c2d362-fd77-48c1-a2bb-49d9e685b0b9 g.chrX:149937526_149937528delGGC uc004fek.3 - 11 1026_1028 c.798_800delGCC c.(796-801)ccgccc>ccc p.266_267PP>P CD99L2_uc011myb.2_In_Frame_Del_p.183_184PP>P|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.256_257PP>P|CD99L2_uc004fem.3_In_Frame_Del_p.207_208PP>P|CD99L2_uc004fen.3_In_Frame_Del_p.184_185PP>P NM_001242614 NP_001229543 Q8TCZ2 C99L2_HUMAN Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA. 256 cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 --- 241 --- --- 7 ---