Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ACOXL 55289 broad.mit.edu 37 2 111666434 111666434 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:111666434G>A ENST00000389811.4 + 11 1081 c.857G>A c.(856-858)cGg>cAg p.R286Q ACOXL_ENST00000439055.1_Missense_Mutation_p.R286Q Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 286 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 CAGACCCTGCGGCTGATGCCC 0.547000 35 52 0 0 0.00111076 0 0 RHBG 57127 broad.mit.edu 37 1 156351238 156351238 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:156351238G>A ENST00000400992.2 + 5 1046 c.678G>A c.(676-678)ctG>ctA p.L226L RHBG_ENST00000368249.1_Silent_p.L258L|RHBG_ENST00000537040.1_Silent_p.L96L|RHBG_ENST00000255013.3_Silent_p.L189L|RHBG_ENST00000451864.2_Silent_p.L226L|RHBG_ENST00000368246.2_Silent_p.L258L Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 258 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) ACTACTCCCTGGCTGCCAGCA 0.592000 28 42 0 0 0.000279167 0 0 KRT13 3860 broad.mit.edu 37 17 39661729 39661729 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:39661729C>T ENST00000246635.3 - 1 120 c.74G>A c.(73-75)gGa>gAa p.G25E KRT13_ENST00000587544.1_Missense_Mutation_p.G25E|KRT13_ENST00000336861.3_Missense_Mutation_p.G25E NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 25 Gly-rich.|Head. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) ACCACGGCCTCCTCCCAGCTG 0.627000 15 30 0 0 0.00074312 0 0 HAL 3034 broad.mit.edu 37 12 96379885 96379885 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:96379885G>A ENST00000261208.3 - 13 1473 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W HAL_ENST00000541929.1_Missense_Mutation_p.R161W|HAL_ENST00000538703.1_Missense_Mutation_p.R369W NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 369 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) AAGAGTGACCGAAACCGAAAA 0.403000 22 32 0 0 0.000586117 0 0 PLCH1 23007 broad.mit.edu 37 3 155200465 155200465 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:155200465C>T ENST00000460012.1 - 23 3617 c.3260G>A c.(3259-3261)gGa>gAa p.G1087E PLCH1_ENST00000334686.6_Missense_Mutation_p.G1087E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1125E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1087E|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1125 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AAGGACGCTTCCTGACAAGAT 0.463000 13 59 0 0 0.000151284 0 0 SOWAHA 134548 broad.mit.edu 37 5 132150810 132150810 + Silent SNP G G T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:132150810G>T ENST00000378693.2 + 1 1778 c.1497G>T c.(1495-1497)tcG>tcT p.S499S NM_175873.4 NP_787069.3 Q2M3V2 ANR43_HUMAN sosondowah ankyrin repeat domain family member A 499 TGAAGAAGTCGAGCTCCTTCA 0.587000 10 31 4.68919e-08 4.85372e-07 0.000673444 1 0 PPIAL4G 644591 broad.mit.edu 37 1 143767503 143767503 + Missense_Mutation SNP T T G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:143767503T>G ENST00000419275.1 - 1 378 c.346A>C c.(346-348)Act>Cct p.T116P NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 116 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 GTCTTGGCAGTGCAGATGAAA 0.473000 53 382 0 0 0.000781405 0 0 MSH6 2956 broad.mit.edu 37 2 48026038 48026038 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:48026038G>A ENST00000234420.4 + 4 1068 c.916G>A c.(916-918)Gga>Aga p.G306R MSH6_ENST00000540021.1_Missense_Mutation_p.G176R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.G4R NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 306 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATGGTGACTGGAAATGGCTC 0.468000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 54 195 0 0 0.000781405 0 0 YTHDF2 51441 broad.mit.edu 37 1 29070135 29070135 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:29070135G>A ENST00000373812.3 + 4 1715 c.1353G>A c.(1351-1353)ggG>ggA p.G451G YTHDF2_ENST00000541996.1_Silent_p.G401G|YTHDF2_ENST00000542507.1_Silent_p.G451G|YTHDF2_ENST00000478283.1_3'UTR NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 451 YTH. humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CCATGAACGGGAAAGGCCCCG 0.468000 7 45 0 0 8.12818e-05 0 0 LACRT 90070 broad.mit.edu 37 12 55025612 55025612 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:55025612C>T ENST00000257867.4 - 4 318 c.265G>A c.(265-267)Gag>Aag p.E89K LACRT_ENST00000547511.1_Intron NM_033277.1 NP_150593.1 Q9GZZ8 LACRT_HUMAN lacritin 89 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 ATACTTTTCTCCACTATGGAT 0.458000 32 97 0 0 0.000491102 0 0 MUC16 94025 broad.mit.edu 37 19 9006662 9006662 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:9006662C>T ENST00000397910.4 - 44 39789 c.39586G>A c.(39586-39588)Gag>Aag p.E13196K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13198 SEA 8. 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 AGAACACTCTCCGTGATGTTG 0.527000 25 125 0 0 0.000720815 0 0 OR1S1 219959 broad.mit.edu 37 11 57982333 57982333 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:57982333C>T ENST00000309433.6 + 1 117 c.117C>T c.(115-117)ctC>ctT p.L39L NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) ATCAAAACCTCCTCTTTGTGC 0.453000 13 121 0 0 0.000151284 0 0 SMYD3 64754 broad.mit.edu 37 1 246498675 246498675 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:246498675G>A ENST00000490107.1 - 3 369 c.153C>T c.(151-153)ttC>ttT p.F51F SMYD3_ENST00000541742.1_Silent_p.F51F|SMYD3_ENST00000403792.3_Silent_p.F110F|SMYD3_ENST00000388985.4_Silent_p.F110F NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 110 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TCACAAGTTTGAAGACAACTC 0.413000 39 75 0 0 0.000319135 0 0 JAG2 3714 broad.mit.edu 37 14 105612994 105612994 + Nonsense_Mutation SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:105612994A>C ENST00000331782.3 - 21 2950 c.2547T>G c.(2545-2547)taT>taG p.Y849* JAG2_ENST00000347004.2_Nonsense_Mutation_p.Y811* NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 849 EGF-like 16; calcium-binding (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AGCTACAGCGATACCCGTTGA 0.677000 4 13 0 0 0.00024832 0 0 CACNB4 785 broad.mit.edu 37 2 152695708 152695708 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:152695708G>A ENST00000360283.6 - 13 1646 c.1389C>T c.(1387-1389)taC>taT p.Y463Y CACNB4_ENST00000534999.1_Silent_p.Y462Y|CACNB4_ENST00000201943.5_Silent_p.Y434Y|CACNB4_ENST00000539935.1_Silent_p.Y496Y|CACNB4_ENST00000397327.2_Silent_p.Y449Y|CACNB4_ENST00000427385.1_Silent_p.Y478Y O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 496 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) AAGTGTCCTGGTATGAGTCAG 0.458000 12 55 0 0 0.000978159 0 0 SLC6A11 6538 broad.mit.edu 37 3 10865069 10865069 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:10865069G>A ENST00000254488.2 + 4 681 c.615G>A c.(613-615)gaG>gaA p.E205E SLC6A11_ENST00000454147.1_Silent_p.E205E NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 205 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CTGTCATGGAGTTTTGGGAGT 0.507000 17 19 0 0 0.000566183 0 0 XIST 7503 broad.mit.edu 37 X 73064629 73064629 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:73064629G>A ENST00000429829.1 - 0 7959 NR_001564.2 TTATTCAGATGAGATAGGCCG 0.458000 27 55 0 0 0.000878237 0 0 PTPRT 11122 broad.mit.edu 37 20 41419967 41419967 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:41419967C>T ENST00000373198.3 - 3 589 c.354G>A c.(352-354)ggG>ggA p.G118G PTPRT_ENST00000373187.1_Silent_p.G118G|PTPRT_ENST00000373201.1_Silent_p.G118G|PTPRT_ENST00000373184.1_Silent_p.G118G|PTPRT_ENST00000373193.3_Silent_p.G118G|PTPRT_ENST00000356100.2_Silent_p.G118G|PTPRT_ENST00000373190.1_Silent_p.G118G NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 118 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) CGTTCAAGGCCCCTGGGCTGG 0.597000 15 53 0 0 0.000219431 0 0 TCP10L2 401285 broad.mit.edu 37 6 167592605 167592605 + Missense_Mutation SNP T T G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:167592605T>G ENST00000366832.2 + 6 895 c.764T>G c.(763-765)gTt>gGt p.V255G NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 255 endometrium(1)|kidney(2)|lung(3) 6 GCAGCCGGAGTTGCTGGTGAG 0.582000 3 12 0 0 0.00024832 0 0 KRT36 8689 broad.mit.edu 37 17 39642737 39642737 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:39642737G>A ENST00000393986.2 - 8 1357 c.1145C>T c.(1144-1146)cCc>cTc p.P382L KRT36_ENST00000328119.6_Missense_Mutation_p.P432L O76013 KRT36_HUMAN keratin 36 432 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CGGGGTGCAGGGCACAGAGGG 0.602000 9 18 0 0 0.000274275 0 0 GRM8 2918 broad.mit.edu 37 7 126544699 126544699 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:126544699C>T ENST00000339582.2 - 4 1574 c.766G>A c.(766-768)Gaa>Aaa p.E256K GRM8_ENST00000358373.3_Missense_Mutation_p.E256K|GRM8_ENST00000444921.2_Missense_Mutation_p.E256K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.E256K O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 256 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GGTCTTGGTTCACGTGGGATT 0.398000 HNSCC(24;0.065) 41 73 0 0 0.000228196 0 0 CDCA7 83879 broad.mit.edu 37 2 174228117 174228117 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:174228117C>T ENST00000306721.3 + 4 651 c.548C>T c.(547-549)tCc>tTc p.S183F CDCA7_ENST00000392567.2_Missense_Mutation_p.S104F|CDCA7_ENST00000347703.3_Missense_Mutation_p.S104F|CDCA7_ENST00000410019.3_Missense_Mutation_p.S62F|CDCA7_ENST00000410101.3_Missense_Mutation_p.S139F NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 104 Arg-rich. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) GATTCCAACTCCGATTCAGAA 0.433000 17 78 0 0 0.000422831 0 0 VAV1 7409 broad.mit.edu 37 19 6820742 6820742 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:6820742C>T ENST00000304076.2 + 2 328 c.234C>T c.(232-234)ttC>ttT p.F78F VAV1_ENST00000602142.1_Silent_p.F78F|VAV1_ENST00000599806.1_Silent_p.F23F|VAV1_ENST00000596764.1_Silent_p.F78F|VAV1_ENST00000539284.1_Silent_p.F13F NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 78 CH.|Leu-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TTAGAACCTTCCTGTCCACCT 0.552000 32 96 0 0 0.00058488 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077388 32077388 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:32077388G>A ENST00000354689.6 + 0 3 RP11-1166P10.6_ENST00000566806.1_RNA CCCAGTGTGAGGTGCAGCTGG 0.532000 28 112 0 0 0.00106085 0 0 RTN4 57142 broad.mit.edu 37 2 55252222 55252222 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:55252222C>T ENST00000337526.6 - 3 3256 c.3013_splice c.e3+1 p.V1005_splice RTN4_ENST00000394611.2_Splice_Site_p.V799_splice|RTN4_ENST00000404909.1_Splice_Site_p.V799_splice|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Splice_Site_p.V799_splice|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Splice_Site_p.V773_splice|RTN4_ENST00000357376.3_Splice_Site_p.V799_splice|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 1005 Reticulon. apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 ATTGGATTACCTGAAGTTTTA 0.353000 23 49 0 0 0.00047179 0 0 BDP1 55814 broad.mit.edu 37 5 70858216 70858216 + Missense_Mutation SNP T T A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:70858216T>A ENST00000358731.4 + 38 7875 c.7612T>A c.(7612-7614)Tta>Ata p.L2538I BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2538 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TATACCTGGATTAAGAAAGAA 0.358000 13 57 0 0 0.000151284 0 0 CACNB4 785 broad.mit.edu 37 2 152695707 152695707 + Nonsense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:152695707G>A ENST00000360283.6 - 13 1647 c.1390C>T c.(1390-1392)Cag>Tag p.Q464* CACNB4_ENST00000534999.1_Nonsense_Mutation_p.Q463*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.Q435*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.Q497*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.Q450*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.Q479* O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 497 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TAAGTGTCCTGGTATGAGTCA 0.463000 12 55 0 0 0.000978159 0 0 PCDH1 5097 broad.mit.edu 37 5 141248676 141248676 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:141248676G>A ENST00000287008.3 - 2 508 c.361C>T c.(361-363)Cgt>Tgt p.R121C PCDH1_ENST00000456271.1_Missense_Mutation_p.R121C|PCDH1_ENST00000394536.3_Missense_Mutation_p.R121C|PCDH1_ENST00000536585.1_Missense_Mutation_p.R99C|PCDH1_ENST00000503492.1_Missense_Mutation_p.R121C NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 121 Cadherin 1. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TGGCATTCACGGAGCCCCTCA 0.592000 19 32 0 0 0.000229342 0 0 RGS22 26166 broad.mit.edu 37 8 100975164 100975164 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:100975164C>T ENST00000360863.6 - 25 3852 c.3658G>A c.(3658-3660)Gag>Aag p.E1220K RGS22_ENST00000523287.1_Missense_Mutation_p.E1039K|RGS22_ENST00000523437.1_Missense_Mutation_p.E1208K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1220 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGAATTCTCTCCTGTTCTAAG 0.313000 8 69 0 0 0.000442599 0 0 FIBIN 387758 broad.mit.edu 37 11 27016482 27016482 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:27016482C>T ENST00000318627.2 + 1 855 c.409C>T c.(409-411)Ctc>Ttc p.L137F NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 137 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 GGACAAATCCCTCACTGAGCT 0.587000 12 36 0 0 0.000151284 0 0 MATR3 9782 broad.mit.edu 37 5 138655053 138655053 + Missense_Mutation SNP G G C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:138655053G>C ENST00000394800.2 + 13 2014 c.1465G>C c.(1465-1467)Gat>Cat p.D489H MATR3_ENST00000502929.1_Missense_Mutation_p.D489H|MATR3_ENST00000502499.1_Missense_Mutation_p.D151H|MATR3_ENST00000509990.1_Missense_Mutation_p.D489H|MATR3_ENST00000394805.3_Missense_Mutation_p.D489H|MATR3_ENST00000510056.1_Missense_Mutation_p.D489H|MATR3_ENST00000503811.1_Missense_Mutation_p.D201H|MATR3_ENST00000504203.1_Missense_Mutation_p.D151H|MATR3_ENST00000361059.2_Missense_Mutation_p.D489H P43243 MATR3_HUMAN matrin 3 489 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCAGAAGTTTGATCAAAAGCA 0.373000 14 82 0 0 0.000422831 0 0 FAM71F2 346653 broad.mit.edu 37 7 128315743 128315743 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:128315743G>A ENST00000480462.1 + 2 301 c.195G>A c.(193-195)ggG>ggA p.G65G FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Silent_p.G65G|FAM71F2_ENST00000378704.3_Silent_p.G56G Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 65 NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 CTAAGCCCGGGAACTGGAGAG 0.557000 7 29 0 0 0.000274275 0 0 EEF1E1 9521 broad.mit.edu 37 6 8097525 8097525 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:8097525T>C ENST00000379715.5 - 2 319 c.263A>G c.(262-264)aAa>aGa p.K88R EEF1E1_ENST00000429723.2_Missense_Mutation_p.K88R|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.K88R|EEF1E1_ENST00000507463.1_Missense_Mutation_p.K88R NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 88 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) GATGTCATTTTTACTGGAGTG 0.413000 37 93 0 0 0.000437636 0 0 ZC3H6 376940 broad.mit.edu 37 2 113069500 113069500 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:113069500G>A ENST00000409871.1 + 5 1134 c.733G>A c.(733-735)Gat>Aat p.D245N ZC3H6_ENST00000343936.4_Missense_Mutation_p.D245N NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 245 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 TTCAGTATCGGATGACTTTCA 0.373000 4 35 0 0 0.00024832 0 0 GLI3 2737 broad.mit.edu 37 7 42011936 42011936 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:42011936C>T ENST00000395925.3 - 13 2187 c.2103_splice c.e13+1 p.M701_splice GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 701 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 AATGACATACCATTGGCTTCT 0.542000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 63 159 0 0 0.000781405 0 0 APCDD1L 164284 broad.mit.edu 37 20 57036201 57036201 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:57036201G>A ENST00000371149.3 - 4 1381 c.1151C>T c.(1150-1152)gCc>gTc p.A384V APCDD1L_ENST00000439429.1_Missense_Mutation_p.A395V|APCDD1L_ENST00000491015.1_5'UTR NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 384 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CATGGACCAGGCCCCCGCACC 0.627000 15 48 0 0 0.000132079 0 0 SMC4 10051 broad.mit.edu 37 3 160135741 160135741 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:160135741G>A ENST00000357388.3 + 11 2119 c.1668G>A c.(1666-1668)aaG>aaA p.K556K SMC4_ENST00000360111.2_Silent_p.K556K|SMC4_ENST00000344722.5_Silent_p.K556K|SMC4_ENST00000462787.1_Silent_p.K556K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Silent_p.K531K NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 556 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGAATTAAAGGAGGTAAATC 0.388000 5 11 0 0 0.000602214 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 4 42 0 0 0.000602214 0 0 KDM5A 5927 broad.mit.edu 37 12 417100 417100 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:417100G>A ENST00000399788.2 - 23 3812 c.3450C>T c.(3448-3450)gcC>gcT p.A1150A KDM5A_ENST00000382815.4_Silent_p.A1150A NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1150 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TTGTCATCTTGGCTAGGTTGG 0.438000 T NUP98 AML 45 107 0 0 0.000781405 0 0 ZNF699 374879 broad.mit.edu 37 19 9407134 9407134 + Missense_Mutation SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:9407134A>C ENST00000591998.1 - 6 1174 c.946T>G c.(946-948)Ttc>Gtc p.F316V ZNF699_ENST00000308650.3_Missense_Mutation_p.F316V Q32M78 ZN699_HUMAN zinc finger protein 699 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAACAACTGAAGGCCTTCCCA 0.423000 8 61 0 0 0.000157383 0 0 OR10R2 343406 broad.mit.edu 37 1 158450091 158450091 + Missense_Mutation SNP C C T rs138574952 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:158450091C>T ENST00000368152.1 + 1 424 c.424C>T c.(424-426)Cgc>Tgc p.R142C RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R142C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) GGGTTATGATCGCTATGCTGC 0.498000 42 191 0 0 0.000781405 0 0 TARSL2 123283 broad.mit.edu 37 15 102197160 102197160 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:102197160C>T ENST00000335968.3 - 18 2441 c.2225G>A c.(2224-2226)cGa>cAa p.R742Q TARSL2_ENST00000559492.1_5'UTR NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 742 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTGTGCATTTCGTATTTTCTT 0.318000 5 32 0 0 0.000602214 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788486 140788486 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:140788486C>T ENST00000520790.1 + 1 717 c.717C>T c.(715-717)ccC>ccT p.P239P PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGATAACCCCCCGGTTTTCA 0.502000 10 17 0 0 0.000442599 0 0 RUSC2 9853 broad.mit.edu 37 9 35556374 35556374 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:35556374C>T ENST00000455600.1 + 5 3481 c.2912C>T c.(2911-2913)cCt>cTt p.P971L NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 971 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACGGAGAAGCCTCCAGCTGAG 0.532000 19 42 0 0 0.000132079 0 0 CNTN3 5067 broad.mit.edu 37 3 74347205 74347205 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:74347205G>A ENST00000263665.6 - 17 2331 c.2304C>T c.(2302-2304)atC>atT p.I768I NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 768 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AATATGGCACGATGCTTTCAT 0.453000 22 36 0 0 0.00047179 0 0 DLG5 9231 broad.mit.edu 37 10 79565430 79565430 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:79565430G>A ENST00000372391.2 - 27 5162 c.5157C>T c.(5155-5157)ctC>ctT p.L1719L DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1379L NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1719 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGCCTTCAAAGAGTGGAATGG 0.527000 29 35 0 0 0.000491102 0 0 KCNA10 3744 broad.mit.edu 37 1 111060909 111060909 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:111060909G>A ENST00000369771.2 - 1 888 c.501C>T c.(499-501)tcC>tcT p.S167S NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 167 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GCTCATAGAAGGAGATTTCAT 0.488000 20 40 0 0 0.000132079 0 0 POM121 9883 broad.mit.edu 37 7 72413673 72413673 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:72413673C>T ENST00000395270.1 + 14 3387 c.2346C>T c.(2344-2346)ttC>ttT p.F782F POM121_ENST00000257622.4_Silent_p.F782F|POM121_ENST00000434423.2_Silent_p.F1047F|POM121_ENST00000446813.1_Silent_p.F782F|POM121_ENST00000358357.3_Silent_p.F782F NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1047 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTTCGGCCTTCGGCGCTCCCG 0.647000 19 48 0 0 0.000175454 0 0 F13A1 2162 broad.mit.edu 37 6 6146001 6146001 + Missense_Mutation SNP T T A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:6146001T>A ENST00000264870.3 - 15 2315 c.2050A>T c.(2050-2052)Atc>Ttc p.I684F NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 684 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TTGGGCCGGATTTCACTGAAA 0.517000 17 39 0 0 0.000132079 0 0 ADAM7 8756 broad.mit.edu 37 8 24359024 24359024 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:24359024G>A ENST00000175238.6 + 20 2226 c.2143G>A c.(2143-2145)Gga>Aga p.G715R RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G487R|ADAM7_ENST00000380789.1_Missense_Mutation_p.G715R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 715 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G715*(2) 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) GGAGAACAAAGGATACTTTGG 0.373000 21 71 0 0 0.000184323 0 0 TIMD4 91937 broad.mit.edu 37 5 156381674 156381674 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:156381674C>T ENST00000274532.2 - 2 208 c.152G>A c.(151-153)aGc>aAc p.S51N TIMD4_ENST00000407087.3_Missense_Mutation_p.S51N NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 51 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCAGCACATGCTGTTGCTGTT 0.537000 114 338 0 0 0.000781405 0 0 NEB 4703 broad.mit.edu 37 2 152471030 152471030 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:152471030C>T ENST00000397345.3 - 77 11563 c.11361G>A c.(11359-11361)ccG>ccA p.P3787P NEB_ENST00000409198.1_Silent_p.P3544P|NEB_ENST00000172853.10_Silent_p.P3544P|NEB_ENST00000603639.1_Silent_p.P3787P|NEB_ENST00000604864.1_Silent_p.P3787P|NEB_ENST00000427231.2_Silent_p.P3787P NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3787 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.P3544P(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACATCATCTTCGGGTCATCCT 0.468000 62 161 0 0 0.000781405 0 0 CCDC148 130940 broad.mit.edu 37 2 159166112 159166112 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:159166112T>C ENST00000283233.5 - 9 1256 c.943A>G c.(943-945)Ata>Gta p.I315V CCDC148_ENST00000409187.1_Missense_Mutation_p.I324V|CCDC148_ENST00000536771.1_Missense_Mutation_p.I229V NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 315 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TGCTGCTCTATAGCAAAGCGA 0.353000 18 60 0 0 0.000175454 0 0 EBF1 1879 broad.mit.edu 37 5 158141145 158141145 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:158141145C>T ENST00000313708.6 - 12 1453 c.1171G>A c.(1171-1173)Ggg>Agg p.G391R EBF1_ENST00000517373.1_Missense_Mutation_p.G383R|EBF1_ENST00000380654.4_Missense_Mutation_p.G360R|EBF1_ENST00000518836.1_5'UTR NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 391 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTGGCATCCCATACAGTGCT 0.468000 T HMGA2 lipoma 45 170 0 0 0.000781405 0 0 ZNF670 93474 broad.mit.edu 37 1 247201394 247201394 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:247201394T>C ENST00000366503.2 - 4 685 c.527A>G c.(526-528)aAg>aGg p.K176R NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) ATCAAAAGGCTTCTCATACAC 0.383000 21 38 0 0 0.000175454 0 0 TENM1 10178 broad.mit.edu 37 X 123699397 123699397 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:123699397C>T ENST00000422452.2 - 12 2154 c.2091G>A c.(2089-2091)atG>atA p.M697I TENM1_ENST00000371130.3_Missense_Mutation_p.M697I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TACCACACTCCATGGTACACA 0.408000 8 42 0 0 0.000157383 0 0 ABI3 51225 broad.mit.edu 37 17 47297556 47297556 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:47297556C>T ENST00000225941.1 + 6 1168 c.670C>T c.(670-672)Ccc>Tcc p.P224S ABI3_ENST00000419580.2_Missense_Mutation_p.P218S NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 224 Pro-rich. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CGGTGGGGCCCCCACGCCCAA 0.687000 HNSCC(55;0.14) 9 17 0 0 0.000673444 0 0 ROCK2 9475 broad.mit.edu 37 2 11355166 11355166 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:11355166G>A ENST00000315872.6 - 16 2184 c.1736C>T c.(1735-1737)gCc>gTc p.A579V ROCK2_ENST00000401753.1_Missense_Mutation_p.A336V NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 579 Interaction with PPP1R12A. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CCTTAACCGGGCTGCAGTATC 0.413000 11 55 0 0 0.000673444 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85492217 85492217 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:85492217C>T ENST00000393217.2 + 12 3033 c.2972C>T c.(2971-2973)cCt>cTt p.P991L NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 991 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TGTGATACACCTACCATTGTA 0.328000 21 79 0 0 0.000175454 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805830 44805830 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:44805830C>T ENST00000309315.4 + 17 2433 c.2310C>T c.(2308-2310)acC>acT p.T770T ZMIZ2_ENST00000441627.1_Silent_p.T770T|ZMIZ2_ENST00000265346.7_Silent_p.T744T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Silent_p.T738T|ZMIZ2_ENST00000413916.1_Silent_p.T712T NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 770 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCACCCCAACCCTTGCTGAGT 0.637000 21 40 0 0 0.000175454 0 0 TTN 7273 broad.mit.edu 37 2 179636195 179636195 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:179636195C>T ENST00000589042.1 - 34 8083 c.7859G>A c.(7858-7860)gGg>gAg p.G2620E TTN_ENST00000359218.5_Missense_Mutation_p.G2574E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2574E|TTN_ENST00000360870.5_Missense_Mutation_p.G2620E|TTN_ENST00000342175.6_Missense_Mutation_p.G2574E|TTN_ENST00000591111.1_Missense_Mutation_p.G2620E|TTN_ENST00000342992.6_Missense_Mutation_p.G2620E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2354 Ig-like 15. 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) GGAGATGGCCCCACCTTTGGA 0.408000 15 68 0 0 0.000958276 0 0 DNAJC28 54943 broad.mit.edu 37 21 34861163 34861163 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr21:34861163G>A ENST00000314399.3 - 2 976 c.538C>T c.(538-540)Cct>Tct p.P180S DNAJC28_ENST00000402202.1_Missense_Mutation_p.P180S|DNAJC28_ENST00000381947.3_Missense_Mutation_p.P180S NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 180 heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 ACACTATCAGGAAAATACTGG 0.393000 17 95 0 0 0.000958276 0 0 DLG3 1741 broad.mit.edu 37 X 69719869 69719869 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:69719869C>T ENST00000194900.4 + 18 2552 c.2211C>T c.(2209-2211)agC>agT p.S737S DLG3_ENST00000542398.1_Silent_p.S254S|DLG3_ENST00000374355.3_Silent_p.S400S|DLG3_ENST00000374360.3_Silent_p.S705S|DLG3_ENST00000461646.1_3'UTR Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 705 Guanylate kinase-like. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) ATGGGACCAGCATCCAGTCAG 0.493000 7 48 0 0 0.000157383 0 0 OTOGL 283310 broad.mit.edu 37 12 80714336 80714336 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:80714336C>T ENST00000458043.2 + 33 3916 c.3910C>T c.(3910-3912)Cag>Tag p.Q1304* OTOGL_ENST00000547103.1_Nonsense_Mutation_p.Q1304* NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTCCACCATCAGGGCCTCTG 0.418000 10 36 0 0 0.00010058 0 0 ABCA5 23461 broad.mit.edu 37 17 67246096 67246096 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:67246096G>A ENST00000392676.3 - 37 4779 c.4715C>T c.(4714-4716)cCt>cTt p.P1572L ABCA5_ENST00000588877.1_Missense_Mutation_p.P1572L|ABCA5_ENST00000392677.2_Missense_Mutation_p.P1573L Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1572 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ATCTTCCTTAGGAATTTTATA 0.274000 7 41 0 0 0.000274275 0 0 MYLK 4638 broad.mit.edu 37 3 123419379 123419379 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:123419379G>A ENST00000360772.3 - 19 3314 c.2936C>T c.(2935-2937)cCg>cTg p.P979L MYLK_ENST00000359169.1_Missense_Mutation_p.P979L|MYLK_ENST00000360304.3_Missense_Mutation_p.P979L|MYLK_ENST00000475616.1_Missense_Mutation_p.P979L|MYLK_ENST00000346322.5_Missense_Mutation_p.P910L Q15746 MYLK_HUMAN myosin light chain kinase 979 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCGAAAATCCGGGGTGGCAGG 0.587000 16 48 0 0 0.000958276 0 0 CD22 933 broad.mit.edu 37 19 35823534 35823534 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:35823534T>C ENST00000085219.5 + 3 185 c.119T>C c.(118-120)gTc>gCc p.V40A CD22_ENST00000341773.6_Missense_Mutation_p.V40A|CD22_ENST00000536635.2_Missense_Mutation_p.V40A|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.V40A|CD22_ENST00000544992.2_Missense_Mutation_p.V40A|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000595419.1_3'UTR NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 40 Ig-like V-type. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GGGGCCTGCGTCTGGATCCCC 0.502000 10 71 0 0 0.000673444 0 0 MYL6B 140465 broad.mit.edu 37 12 56548872 56548872 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:56548872T>C ENST00000553066.1 + 4 658 c.236T>C c.(235-237)gTg>gCg p.V79A MYL6B_ENST00000552568.1_Missense_Mutation_p.V79A|MYL6B_ENST00000207437.5_Missense_Mutation_p.V79A|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Missense_Mutation_p.V79A|MYL6B_ENST00000550152.1_3'UTR P14649 MYL6B_HUMAN myosin, light chain 6B, alkali, smooth muscle and non-muscle 79 EF-hand 1. muscle filament sliding|skeletal muscle tissue development cytosol|muscle myosin complex|unconventional myosin complex calcium ion binding|motor activity|protein binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(4) 7 OV - Ovarian serous cystadenocarcinoma(18;0.0979) TTTGACCGAGTGGGGGATGGC 0.582000 55 163 0 0 0.000781405 0 0 NXPE4 54827 broad.mit.edu 37 11 114453641 114453641 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:114453641C>T ENST00000375478.3 - 3 379 c.199G>A c.(199-201)Gag>Aag p.E67K NXPE4_ENST00000424261.2_5'UTR NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 AGTTCAGTCTCTGTTAGTGGC 0.443000 21 159 0 0 0.00047179 0 0 KLHL4 56062 broad.mit.edu 37 X 86880701 86880701 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:86880701C>T ENST00000373119.4 + 6 1374 c.1229C>T c.(1228-1230)cCt>cTt p.P410L KLHL4_ENST00000373114.4_Missense_Mutation_p.P410L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 410 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CATCTTTTGCCTGAGAGAAGA 0.438000 6 34 0 0 8.12818e-05 0 0 ADH1B 125 broad.mit.edu 37 4 100242475 100242475 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr4:100242475C>T ENST00000305046.8 - 1 81 c.14G>A c.(13-15)gGa>gAa p.G5E ADH1B_ENST00000394887.3_5'UTR|ADH1B_ENST00000504498.1_5'UTR P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 5 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GCTTACTTTTCCTGCTGTGCT 0.333000 11 41 0 0 0.000151284 0 0 IDI1 3422 broad.mit.edu 37 10 1087205 1087205 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:1087205C>T ENST00000381344.3 - 5 943 c.777G>A c.(775-777)gcG>gcA p.A259A IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA NM_004508.2 NP_004499.2 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 1 202 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding large_intestine(3)|lung(2)|prostate(1) 6 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) AGAGAAAAGTCGCTGCAATAA 0.318000 25 28 0 0 0.000375601 0 0 DNAH10 196385 broad.mit.edu 37 12 124358152 124358152 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:124358152C>T ENST00000409039.3 + 45 7504 c.7479C>T c.(7477-7479)atC>atT p.I2493I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2493 AAA 3 (By similarity). 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) CCATGGATATCCAAAGAAATT 0.463000 10 45 0 0 0.000442599 0 0 GFRAL 389400 broad.mit.edu 37 6 55223928 55223928 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:55223928C>T ENST00000340465.2 + 6 1030 c.944C>T c.(943-945)tCa>tTa p.S315L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 315 integral to membrane receptor activity p.S315L(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CATAGAAAATCATGTTTCAGT 0.343000 15 28 0 0 0.000308642 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308491 140308491 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:140308491G>A ENST00000253807.2 + 1 2014 c.2014G>A c.(2014-2016)Gaa>Aaa p.E672K PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E672K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATGTCTGGGAACCAGGAGG 0.478000 33 98 0 0 0.000409698 0 0 PTPRT 11122 broad.mit.edu 37 20 40944418 40944418 + Missense_Mutation SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:40944418A>C ENST00000373198.3 - 12 2319 c.2084T>G c.(2083-2085)cTc>cGc p.L695R PTPRT_ENST00000373187.1_Missense_Mutation_p.L695R|PTPRT_ENST00000373201.1_Missense_Mutation_p.L695R|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695R|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695R|PTPRT_ENST00000356100.2_Missense_Mutation_p.L695R|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695R NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 695 Fibronectin type-III 4. 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) CAGGGGAGAGAGAGGAGGGTT 0.498000 9 82 0 0 0.000442599 0 0 ASXL3 80816 broad.mit.edu 37 18 31324184 31324184 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:31324184G>A ENST00000269197.5 + 12 4372 c.4372G>A c.(4372-4374)Ggg>Agg p.G1458R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCAACCACCAGGGGGCTTTGC 0.493000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 98 0 0 0.000319135 0 0 GAREM 64762 broad.mit.edu 37 18 29867779 29867779 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:29867779C>T ENST00000399218.4 - 4 836 c.781G>A c.(781-783)Gac>Aac p.D261N RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.D261N NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 AAGTGGAGGTCGTATGGGTTT 0.537000 25 106 0 0 0.000279167 0 0 OTOP2 92736 broad.mit.edu 37 17 72926688 72926688 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:72926688C>T ENST00000331427.4 + 6 1050 c.958C>T c.(958-960)Cgc>Tgc p.R320C OTOP2_ENST00000580223.1_Missense_Mutation_p.R320C NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 320 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) GGACGGGAGCCGCACCAGGCA 0.582000 5 30 0 0 3.59834e-05 0 0 ATP1A3 478 broad.mit.edu 37 19 42482827 42482827 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:42482827C>T ENST00000545399.1 - 12 1753 c.1600G>A c.(1600-1602)Gac>Aac p.D534N ATP1A3_ENST00000543770.1_Missense_Mutation_p.D532N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.D491N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.D521N NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 521 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus 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 ATTTCCTCGTCCAGAGGCTGC 0.657000 12 54 0 0 0.00010058 0 0 CTNNB1 1499 broad.mit.edu 37 3 41278183 41278183 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:41278183C>T ENST00000349496.5 + 13 2339 c.2059C>T c.(2059-2061)Cca>Tca p.P687S CTNNB1_ENST00000396183.3_Missense_Mutation_p.P687S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P687S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P687S|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P680S NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 687 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CAGAACAGAGCCAATGGCTTG 0.443000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 31 80 0 0 0.00058488 0 0 KRT79 338785 broad.mit.edu 37 12 53228034 53228034 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:53228034G>A ENST00000330553.5 - 1 45 c.11C>T c.(10-12)tCc>tTc p.S4F NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 4 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCGAGAGACGGAGGACCTCAT 0.612000 6 27 0 0 3.59834e-05 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202483646 202483646 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:202483646C>T ENST00000439140.1 - 1 252 c.208G>A c.(208-210)Ggc>Agc p.G70S ALS2CR11_ENST00000439802.1_Missense_Mutation_p.G70S|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.G70S|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.G70S NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 70 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 TGCCCGGTGCCCTCCTGGTTC 0.637000 11 23 0 0 0.000978159 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22833544 22833544 + Missense_Mutation SNP C C G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:22833544C>G ENST00000283645.4 + 1 150 c.20C>G c.(19-21)cCg>cGg p.P7R TUBGCP5_ENST00000453949.2_Missense_Mutation_p.P7R NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 7 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CACGGGCCACCGTGGAGTCGG 0.721000 4 4 0 0 0.00024832 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482592 140482592 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:140482592C>T ENST00000231130.2 + 1 2359 c.2359C>T c.(2359-2361)Ccc>Tcc p.P787S NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 787 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGGCAAATCCCAGTTTCAG 0.453000 18 92 0 0 0.00047179 0 0 P4HA3 283208 broad.mit.edu 37 11 73997389 73997389 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:73997389G>A ENST00000331597.4 - 6 862 c.817C>T c.(817-819)Ctc>Ttc p.L273F P4HA3_ENST00000427714.2_Missense_Mutation_p.L273F NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 273 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TCTGCCAAGAGCCTTTCATAT 0.498000 23 137 0 0 0.000586117 0 0 IQCG 84223 broad.mit.edu 37 3 197665517 197665517 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:197665517G>A ENST00000265239.6 - 5 841 c.417C>T c.(415-417)ttC>ttT p.F139F IQCG_ENST00000453254.1_Silent_p.F139F|IQCG_ENST00000455191.1_Silent_p.F139F NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 139 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) ACTCCACAGCGAACCGGCCTC 0.428000 82 282 0 0 0.000781405 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134475675 134475675 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:134475675G>A ENST00000319914.5 - 7 1738 c.711C>T c.(709-711)atC>atT p.I237I ST3GAL1_ENST00000522652.1_Silent_p.I237I|ST3GAL1_ENST00000521180.1_Silent_p.I237I|ST3GAL1_ENST00000399640.2_Silent_p.I237I Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 237 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GTTTCACTCTGATCTTTGCAG 0.557000 61 54 0 0 0.000781405 0 0 TRIM55 84675 broad.mit.edu 37 8 67061995 67061995 + Missense_Mutation SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:67061995A>C ENST00000315962.4 + 5 1092 c.719A>C c.(718-720)aAa>aCa p.K240T TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.K240T|TRIM55_ENST00000276573.7_Missense_Mutation_p.K240T NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 240 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CAAGAGGAGAAACTGGAACAT 0.418000 14 70 0 0 0.000151284 0 0 BTK 695 broad.mit.edu 37 X 100613678 100613678 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:100613678C>T ENST00000308731.7 - 11 1064 c.901G>A c.(901-903)Gaa>Aaa p.E301K BTK_ENST00000372880.1_Missense_Mutation_p.E301K NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 301 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AAACCTCCTTCTTTCCCCTGA 0.473000 Agammaglobulinemia, X-linked 23 123 0 0 0.000295444 0 0 RYR2 6262 broad.mit.edu 37 1 237754135 237754135 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:237754135G>A ENST00000366574.2 + 31 4320 c.4003G>A c.(4003-4005)Gaa>Aaa p.E1335K RYR2_ENST00000542537.1_Missense_Mutation_p.E1319K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1333K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1335 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAATGACTTGGAAGATTATGA 0.522000 10 77 0 0 0.000442599 0 0 REEP2 51308 broad.mit.edu 37 5 137776703 137776703 + Splice_Site SNP A A G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:137776703A>G ENST00000378339.2 + 2 224 c.e2-1 REEP2_ENST00000464751.2_Splice_Site|REEP2_ENST00000506158.1_5'UTR|REEP2_ENST00000254901.5_Splice_Site NM_001271803.1 NP_001258732.1 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTGCCTCCCTAGGCTCATCTT 0.557000 7 38 0 0 0.000157383 0 0 AGO1 26523 broad.mit.edu 37 1 36354143 36354143 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:36354143C>T ENST00000373204.4 + 2 354 c.141C>T c.(139-141)atC>atT p.I47I AGO1_ENST00000373206.1_5'UTR NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 AGGTGGACATCCCTAAGATCG 0.562000 15 69 0 0 0.000308642 0 0 HRC 3270 broad.mit.edu 37 19 49657463 49657463 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:49657463C>T ENST00000252825.4 - 1 1218 c.1032G>A c.(1030-1032)agG>agA p.R344R HRC_ENST00000595625.1_Silent_p.R344R NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 344 4 X tandem repeats, acidic. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GGCCTTGGTGCCTGTGGTCAG 0.557000 20 45 0 0 0.000132079 0 0 SHBG 6462 broad.mit.edu 37 17 7534095 7534095 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:7534095C>T ENST00000380450.4 + 3 332 c.301C>T c.(301-303)Cga>Tga p.R101* SHBG_ENST00000570547.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000576728.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000575903.1_Nonsense_Mutation_p.R101*|SHBG_ENST00000572262.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000575314.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000572182.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000574539.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000441599.2_Nonsense_Mutation_p.R101*|SHBG_ENST00000416273.3_Nonsense_Mutation_p.R101*|SHBG_ENST00000340624.5_Nonsense_Mutation_p.R43*|SHBG_ENST00000576478.1_Nonsense_Mutation_p.R43* NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 101 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GCTGGGACTTCGAGACGGCAG 0.552000 7 28 0 0 0.000157383 0 0 CNNM2 54805 broad.mit.edu 37 10 104679596 104679596 + Silent SNP C C G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:104679596C>G ENST00000369878.3 + 1 1483 c.1359C>G c.(1357-1359)ctC>ctG p.L453L CNNM2_ENST00000369875.3_Silent_p.L453L|CNNM2_ENST00000433628.2_Silent_p.L453L|CNNM2_ENST00000457502.2_Silent_p.L211L NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 453 CBS 1. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGACCCCACTCCGGGACTGCT 0.577000 17 16 0 0 0.00074312 0 0 DOCK2 1794 broad.mit.edu 37 5 169507175 169507175 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:169507175G>A ENST00000256935.8 + 50 5255 c.5175G>A c.(5173-5175)agG>agA p.R1725R DOCK2_ENST00000540750.1_Silent_p.R786R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.R1217R NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1725 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCTTTCCAGGAAGCATGAGT 0.537000 13 65 0 0 0.000151284 0 0 COL14A1 7373 broad.mit.edu 37 8 121259933 121259933 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:121259933C>T ENST00000297848.3 + 21 2831 c.2561C>T c.(2560-2562)tCc>tTc p.S854F COL14A1_ENST00000247781.3_Missense_Mutation_p.S759F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S854F|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 854 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCCCCATCTTCCCCGGTGAAA 0.453000 20 109 0 0 0.000295444 0 0 TICRR 90381 broad.mit.edu 37 15 90168917 90168917 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:90168917C>T ENST00000268138.7 + 20 5481 c.5376C>T c.(5374-5376)gaC>gaT p.D1792D KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.D1791D TOPBP1-interacting checkpoint and replication regulator GGATCTGTGACCTGAGAGAAG 0.527000 12 51 0 0 0.000978159 0 0 ADAM7 8756 broad.mit.edu 37 8 24333986 24333986 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:24333986G>A ENST00000175238.6 + 8 757 c.674G>A c.(673-675)cGa>cAa p.R225Q RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_5'UTR|ADAM7_ENST00000380789.1_Missense_Mutation_p.R225Q|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 225 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R225Q(1) 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) CTAAGGAACCGAATTTGGGGA 0.333000 14 37 0 0 0.00074312 0 0 APOB 338 broad.mit.edu 37 2 21230565 21230565 + Missense_Mutation SNP G G A rs146377316 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:21230565G>A ENST00000233242.1 - 26 9302 c.9175C>T c.(9175-9177)Cgt>Tgt p.R3059C NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3059 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 p.R3059C(1) 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) AATGGAAAACGAACTTTCAAA 0.403000 224 365 0 0 0.000781405 0 0 MAP3K13 9175 broad.mit.edu 37 3 185167787 185167787 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:185167787C>T ENST00000265026.3 + 6 1444 c.1110C>T c.(1108-1110)ctC>ctT p.L370L MAP3K13_ENST00000446828.1_Silent_p.L163L|MAP3K13_ENST00000424227.1_Silent_p.L370L|MAP3K13_ENST00000535426.1_Silent_p.L226L|MAP3K13_ENST00000443863.1_Silent_p.L226L NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 370 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GCAACAGCCTCCACCTTCCAG 0.453000 39 101 0 0 0.000437636 0 0 RHOD 29984 broad.mit.edu 37 11 66834316 66834316 + Silent SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:66834316C>A ENST00000308831.2 + 3 413 c.328C>A c.(328-330)Cgg>Agg p.R110R RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Silent_p.R110R NM_014578.3 NP_055393.1 O00212 RHOD_HUMAN ras homolog family member D 110 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity lung(3) 3 CATCTTTAACCGGGTAGGTAC 0.617000 5 67 0.000602214 0.00613921 0.000602214 1 0 EDEM2 55741 broad.mit.edu 37 20 33722705 33722705 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:33722705G>A ENST00000540582.1 - 10 1136 c.415C>T c.(415-417)Cat>Tat p.H139Y EDEM2_ENST00000374492.3_Missense_Mutation_p.H180Y|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.2_Missense_Mutation_p.H143Y Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 180 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) TTCACGCCATGAAGTAAGTTC 0.537000 15 53 0 0 0.000566183 0 0 OR6C2 341416 broad.mit.edu 37 12 55846227 55846227 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:55846227C>T ENST00000322678.1 + 1 230 c.230C>T c.(229-231)cCc>cTc p.P77L RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 GTCTGCATTCCCAGATTCTTG 0.373000 35 104 0 0 0.000692331 0 0 SCN5A 6331 broad.mit.edu 37 3 38674603 38674603 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:38674603C>T ENST00000413689.1 - 2 389 c.196G>A c.(196-198)Gat>Aat p.D66N SCN5A_ENST00000423572.2_Missense_Mutation_p.D66N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D66N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D66N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D66N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D66N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D66N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D66N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D66N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D66N NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 66 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCATAGAGATCTGGCAGCTTT 0.642000 7 16 0 0 8.12818e-05 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751901 26751901 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:26751901G>A ENST00000396641.2 + 2 1330 c.738G>A c.(736-738)caG>caA p.Q246Q LRRC3B_ENST00000456208.2_Silent_p.Q246Q|LRRC3B_ENST00000417744.1_Silent_p.Q246Q NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 246 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 CAAGCAGGCAGAAGAAAGCAG 0.423000 9 19 0 0 0.000673444 0 0 VPS33A 65082 broad.mit.edu 37 12 122720409 122720409 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:122720409G>A ENST00000267199.4 - 11 1476 c.1364C>T c.(1363-1365)cCg>cTg p.P455L RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P416L NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 455 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) CCCCGTCTGCGGTTTCAGCAG 0.493000 76 139 0 0 0.000781405 0 0 OTOGL 283310 broad.mit.edu 37 12 80704414 80704414 + Silent SNP T T A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:80704414T>A ENST00000458043.2 + 29 3336 c.3330T>A c.(3328-3330)atT>atA p.I1110I OTOGL_ENST00000547103.1_Silent_p.I1110I NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATGAAACAATTAAACCCTGTG 0.353000 24 84 0 0 0.000586117 0 0 CACNA1E 777 broad.mit.edu 37 1 181705482 181705482 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:181705482G>A ENST00000526775.1 + 21 3442 c.3277G>A c.(3277-3279)Gag>Aag p.E1093K CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1093K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1044K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E719K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1112K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1063K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1112K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1112 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ggaggaggtggagaagaagaa 0.527000 3 7 0 0 6.4e-05 0 0 PTAFR 5724 broad.mit.edu 37 1 28477168 28477168 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:28477168G>A ENST00000373857.3 - 2 999 c.365C>T c.(364-366)cCc>cTc p.P122L PTAFR_ENST00000305392.3_Missense_Mutation_p.P122L|PTAFR_ENST00000539896.1_Missense_Mutation_p.P122L NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 122 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) AGTCTTGATGGGCCGAGTTAC 0.557000 23 78 0 0 0.000295444 0 0 SEMG1 6406 broad.mit.edu 37 20 43836807 43836807 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:43836807C>T ENST00000372781.3 + 2 926 c.869C>T c.(868-870)tCt>tTt p.S290F SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TCATACCAATCTTCAAGTACA 0.378000 12 37 0 0 0.000978159 0 0 ILDR2 387597 broad.mit.edu 37 1 166908769 166908769 + Missense_Mutation SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:166908769C>A ENST00000271417.3 - 4 593 c.538G>T c.(538-540)Gct>Tct p.A180S ILDR2_ENST00000526687.1_Missense_Mutation_p.A180S|ILDR2_ENST00000469934.2_Missense_Mutation_p.A180S|ILDR2_ENST00000528703.1_Missense_Mutation_p.A180S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000525740.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 180 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ATCTCCACAGCAAAACTGGGC 0.423000 22 48 3.10358e-05 0.000319845 0.000295444 1 0 TM9SF4 9777 broad.mit.edu 37 20 30730862 30730862 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:30730862C>T ENST00000217315.5 + 6 895 c.555C>T c.(553-555)taC>taT p.Y185Y TM9SF4_ENST00000398022.2_Silent_p.Y202Y Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 202 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGCACACGTACCGTGTCGTCC 0.582000 20 36 0 0 0.000175454 0 0 AXIN1 8312 broad.mit.edu 37 16 338190 338190 + Nonsense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:338190G>A ENST00000262320.3 - 11 2892 c.2521C>T c.(2521-2523)Cga>Tga p.R841* AXIN1_ENST00000354866.3_Nonsense_Mutation_p.R805* NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 841 DIX. R -> Q (in hepatoblastoma; dbSNP:rs34015754). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TCGTCCTCTCGAACCTCCTCA 0.592000 25 88 0 0 0.000878237 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131892 142131892 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:142131892G>A ENST00000390375.2 - 0 26 CAGAGGGACAGGAAGCACTGC 0.597000 7 37 0 0 8.12818e-05 0 0 XKR6 286046 broad.mit.edu 37 8 10756188 10756188 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:10756188C>T ENST00000416569.2 - 3 1226 c.1200G>A c.(1198-1200)tgG>tgA p.W400* XKR6_ENST00000304437.2_Nonsense_Mutation_p.W121* NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 400 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CATGGATGATCCAGAAGGCCA 0.502000 13 52 0 0 0.000151284 0 0 MTHFD1 4522 broad.mit.edu 37 14 64921458 64921458 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:64921458C>T ENST00000555709.1 + 26 2970 c.2583C>T c.(2581-2583)ccC>ccT p.P861P MTHFD1_ENST00000545908.1_Silent_p.P917P|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.7_Silent_p.P917P NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 861 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGAATCTCCCCATCTGCATGG 0.517000 11 16 0 0 0.000978159 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45255643 45255643 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr22:45255643C>T ENST00000517296.3 + 16 1540 c.1540C>T c.(1540-1542)Cgc>Tgc p.R514C PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.R435C|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.R335C|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.R304C|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.R514C|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.R426C|ARHGAP8_ENST00000336963.4_Intron Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) CACTGGCTGCCGCCAGATCTT 0.677000 10 36 0 0 0.000219431 0 0 IGKV1D-12 28903 broad.mit.edu 37 2 90199187 90199187 + RNA SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:90199187C>T ENST00000390276.2 + 0 529 CTAACAGTTTCCCTCCCACAG 0.532000 37 96 0 0 0.000781405 0 0 UBR4 23352 broad.mit.edu 37 1 19407947 19407947 + Silent SNP A A T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:19407947A>T ENST00000375267.2 - 103 15132 c.15129T>A c.(15127-15129)ctT>ctA p.L5043L UBR4_ENST00000375225.3_Silent_p.L118L|UBR4_ENST00000429347.2_Silent_p.L566L|UBR4_ENST00000543981.1_Silent_p.L707L|UBR4_ENST00000375254.3_Silent_p.L5043L|UBR4_ENST00000375224.1_Silent_p.L750L|UBR4_ENST00000375217.2_Silent_p.L5036L|UBR4_ENST00000375226.2_Silent_p.L5019L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 5043 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCAGGATGTGAAGGGCCAAGA 0.582000 35 175 0 0 0.000814825 0 0 PCNXL3 399909 broad.mit.edu 37 11 65396095 65396095 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:65396095C>T ENST00000355703.3 + 23 4271 c.3732C>T c.(3730-3732)ttC>ttT p.F1244F NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1244 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 AGCTGCGTTTCGTGCTGACCT 0.602000 12 41 0 0 0.000151284 0 0 DYM 54808 broad.mit.edu 37 18 46956726 46956726 + Silent SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:46956726T>C ENST00000269445.6 - 2 496 c.39A>G c.(37-39)aaA>aaG p.K13K DYM_ENST00000584977.1_5'UTR|DYM_ENST00000442713.2_Silent_p.K13K NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 13 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 AGTACTCATTTTTAGGAAGAT 0.398000 29 94 0 0 0.000491102 0 0 HES2 54626 broad.mit.edu 37 1 6479858 6479858 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:6479858C>T ENST00000377834.4 - 1 121 c.23G>A c.(22-24)gGg>gAg p.G8E HES2_ENST00000377837.1_Missense_Mutation_p.G8E|HES2_ENST00000487437.1_Missense_Mutation_p.G8E|HES2_ENST00000377836.4_Missense_Mutation_p.G8E|HES2_ENST00000489730.1_Missense_Mutation_p.G8E NM_019089.4 NP_061962.2 Q9Y543 HES2_HUMAN hes family bHLH transcription factor 2 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus lung(1)|ovary(1) 2 Ovarian(185;0.0634)|all_lung(157;0.154) all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CGCCGCGTCCCCTGCCCGGCG 0.751000 3 6 0 0 0.000602214 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762728 176762728 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:176762728C>T ENST00000367662.3 + 20 6217 c.5053C>T c.(5053-5055)Ccc>Tcc p.P1685S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1685 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding 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 TGTAATCCCCCCCAGTGACCC 0.473000 34 66 0 0 0.00058488 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884529 228884529 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:228884529G>A ENST00000392056.3 - 7 1087 c.1041C>T c.(1039-1041)tcC>tcT p.S347S SPHKAP_ENST00000344657.5_Silent_p.S347S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 347 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TATCCATCATGGAGAAATAAG 0.423000 40 83 0 0 0.000270559 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94881170 94881170 + Splice_Site SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:94881170G>A ENST00000289495.5 + 9 2643 c.2427_splice c.e9+1 p.R809_splice PPP1R9A_ENST00000433360.1_Splice_Site_p.R831_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.R809_splice|PPP1R9A_ENST00000424654.1_Splice_Site_p.R809_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.R809_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.R809_splice NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 809 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TCCAAGTGCGGGTAAGTTGTG 0.383000 HNSCC(28;0.073) 8 58 0 0 0.000274275 0 0 IGFLR1 79713 broad.mit.edu 37 19 36230277 36230277 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:36230277G>A ENST00000592537.1 - 5 1072 c.972C>T c.(970-972)tcC>tcT p.S324S IGFLR1_ENST00000588992.1_Silent_p.S156S|IGFLR1_ENST00000344990.3_Silent_p.S136S|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Silent_p.S136S|IGFLR1_ENST00000246532.1_Silent_p.S324S Q9H665 IGFR1_HUMAN IGF-like family receptor 1 324 integral to membrane|plasma membrane protein binding|receptor activity endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1) 15 GCTGGCCCAGGGAGGCAGAGG 0.642000 3 4 0 0 6.4e-05 0 0 WNT8B 7479 broad.mit.edu 37 10 102222943 102222943 + Silent SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:102222943T>C ENST00000343737.5 + 1 146 c.18T>C c.(16-18)ccT>ccC p.P6P NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 6 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) TTTCAAAGCCTTCTGTGTACA 0.443000 37 72 0 0 0.000270559 0 0 PDGFRB 5159 broad.mit.edu 37 5 149495442 149495442 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:149495442C>T ENST00000261799.4 - 23 3674 c.3205G>A c.(3205-3207)Gaa>Aaa p.E1069K NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 1069 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GGCTCTGGTTCGTCCTGGGGC 0.632000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 5 11 0 0 0.000602214 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38348880 38348880 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:38348880G>A ENST00000436615.3 + 12 1551 c.1061G>A c.(1060-1062)aGc>aAc p.S354N RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S409N|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S354N|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S403N NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 560 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 AACCACAAAAGCTACCGAGAA 0.532000 75 143 0 0 0.000781405 0 0 IPPK 64768 broad.mit.edu 37 9 95400563 95400563 + Splice_Site SNP C C G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:95400563C>G ENST00000287996.3 - 9 913 c.e9-1 NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 GCTCACCATTCTTCAGACAGG 0.552000 22 32 0 0 0.00047179 0 0 KIF1A 547 broad.mit.edu 37 2 241728654 241728654 + Splice_Site SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:241728654G>A ENST00000498729.2 - 3 428 c.183_splice c.e3+1 p.S61_splice KIF1A_ENST00000320389.7_Splice_Site_p.S61_splice NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 61 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCGGCTTACTGAGGTGTGCGA 0.602000 15 30 0 0 0.000422831 0 0 FGF9 2254 broad.mit.edu 37 13 22275367 22275367 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr13:22275367C>T ENST00000382353.5 + 3 950 c.420C>T c.(418-420)ttC>ttT p.F140F FGF9_ENST00000478546.1_3'UTR NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 140 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) GAGAACAGTTCGAAGAAAACT 0.393000 7 24 0 0 0.000274275 0 0 TENM1 10178 broad.mit.edu 37 X 123870902 123870902 + Silent SNP G G T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:123870902G>T ENST00000422452.2 - 4 744 c.681C>A c.(679-681)ccC>ccA p.P227P TENM1_ENST00000371130.3_Silent_p.P227P NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CAGCTGGGCTGGGCTGGCTGC 0.607000 23 129 1.03073e-24 1.07873e-23 0.000586117 1 0 F2R 2149 broad.mit.edu 37 5 76028217 76028217 + Nonsense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:76028217G>A ENST00000319211.4 + 2 432 c.167G>A c.(166-168)tGg>tAg p.W56* NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 56 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) GAACCATTTTGGGAGGATGAG 0.353000 27 63 0 0 0.000279167 0 0 IQCF1 132141 broad.mit.edu 37 3 51928924 51928924 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:51928924G>A ENST00000310914.5 - 4 662 c.600C>T c.(598-600)ccC>ccT p.P200P NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 200 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTATTGAGAAGGGAATACACT 0.488000 12 36 0 0 0.00010058 0 0 DARS2 55157 broad.mit.edu 37 1 173808592 173808592 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:173808592G>A ENST00000361951.4 + 10 1655 c.928G>A c.(928-930)Gat>Aat p.D310N DARS2_ENST00000239457.5_5'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 310 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding p.D310H(1) breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) CAATGACAAAGATCCTGTGGT 0.433000 28 52 0 0 0.000878237 0 0 KRT82 3888 broad.mit.edu 37 12 52793820 52793820 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:52793820G>A ENST00000257974.2 - 5 968 c.891C>T c.(889-891)gaC>gaT p.D297D RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 297 Coil 2.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) TGGCGATGTCGTCATACTGCG 0.602000 6 95 0 0 8.12818e-05 0 0 POTEM 641455 broad.mit.edu 37 14 20020012 20020012 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:20020012G>A ENST00000551509.1 - 1 260 c.209C>T c.(208-210)cCc>cTc p.P70L NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 70 endometrium(4)|kidney(1)|lung(4) 9 CCTGCACCAGGGGAAGCAGTG 0.592000 59 328 0 0 0.000781405 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993839 140993839 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:140993839T>C ENST00000285879.4 + 4 935 c.649T>C c.(649-651)Tcc>Ccc p.S217P MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 217 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) TTTCCAGAGTTCCCCTGAGAG 0.493000 HNSCC(15;0.026) 9 205 0 0 0.000566183 0 0 GLIS3 169792 broad.mit.edu 37 9 4286286 4286286 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:4286286G>A ENST00000381971.3 - 2 733 c.140C>T c.(139-141)tCg>tTg p.S47L NM_001042413.1 NP_001035878.1 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 637 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AGTGGGACTCGATGTGCTGCC 0.607000 4 20 0 0 0.00024832 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921679 78921679 + Missense_Mutation SNP G G A rs146608683 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:78921679G>A ENST00000261751.3 - 5 1079 c.968C>T c.(967-969)tCg>tTg p.S323L CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 323 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GGTGCTGGGCGAGCGGTGGTG 0.612000 14 48 0 0 0.000422831 0 0 SMARCE1 6605 broad.mit.edu 37 17 38787946 38787946 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:38787946C>T ENST00000348513.6 - 9 1495 c.e9-1 SMARCE1_ENST00000544009.1_Splice_Site|SMARCE1_ENST00000580419.1_Splice_Site|SMARCE1_ENST00000578044.1_Splice_Site|SMARCE1_ENST00000431889.2_Splice_Site|SMARCE1_ENST00000400122.3_Splice_Site|SMARCE1_ENST00000377808.4_Splice_Site|KRT222_ENST00000476049.1_Splice_Site NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) CTAGTTTTCGCTGCAAGACAG 0.348000 21 33 0 0 0.000229342 0 0 P2RX2 22953 broad.mit.edu 37 12 133197092 133197092 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:133197092G>A ENST00000389110.3 + 7 734 c.697G>A c.(697-699)Gac>Aac p.D233N P2RX2_ENST00000449132.2_Missense_Mutation_p.R197Q|P2RX2_ENST00000348800.5_Missense_Mutation_p.D233N|P2RX2_ENST00000352418.4_Missense_Mutation_p.D161N|P2RX2_ENST00000351222.4_Missense_Mutation_p.D141N|P2RX2_ENST00000350048.5_Missense_Mutation_p.D209N|P2RX2_ENST00000343948.4_Missense_Mutation_p.D233N NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 233 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity p.D233N(1) NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) CGAGGCCTCCGACCTCTACTG 0.632000 19 41 0 0 0.000958276 0 0 CDH9 1007 broad.mit.edu 37 5 26903764 26903764 + Silent SNP C C G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:26903764C>G ENST00000231021.4 - 6 1153 c.981G>C c.(979-981)ggG>ggC p.G327G NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 327 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CAGTTATAATCCCTTCCTGTG 0.408000 60 99 0 0 0.000781405 0 0 ANK1 286 broad.mit.edu 37 8 41552695 41552695 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:41552695C>T ENST00000396942.1 - 27 3198 c.3115_splice c.e27+1 p.E1039_splice ANK1_ENST00000396945.1_Splice_Site_p.E1039_splice|ANK1_ENST00000347528.4_Splice_Site_p.E1039_splice|ANK1_ENST00000352337.4_Splice_Site_p.E1039_splice|ANK1_ENST00000379758.2_Splice_Site_p.E1039_splice|ANK1_ENST00000265709.8_Splice_Site_p.E1080_splice|ANK1_ENST00000289734.7_Splice_Site_p.E1039_splice P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1039 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCGCCCCTACCTTCGTCCATC 0.592000 46 193 0 0 0.000781405 0 0 GTF3C1 2975 broad.mit.edu 37 16 27556813 27556813 + Missense_Mutation SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:27556813A>C ENST00000356183.4 - 2 268 c.253T>G c.(253-255)Ttg>Gtg p.L85V GTF3C1_ENST00000561623.1_Missense_Mutation_p.L85V NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 85 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CTAGACTCCAAAATTCCAGTT 0.428000 13 21 0 0 0.00010058 0 0 LTBP2 4053 broad.mit.edu 37 14 75052732 75052732 + Missense_Mutation SNP C C T rs146027819 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:75052732C>T ENST00000261978.4 - 3 1041 c.655G>A c.(655-657)Gag>Aag p.E219K LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E219K NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 219 EGF-like 1. 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) ATGACCTCCTCGCAGCGGGCT 0.672000 8 9 0 0 0.000274275 0 0 OTOGL 283310 broad.mit.edu 37 12 80633179 80633179 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:80633179C>T ENST00000458043.2 + 10 991 c.985C>T c.(985-987)Cca>Tca p.P329S OTOGL_ENST00000547103.1_Missense_Mutation_p.P329S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTATATCGATCCATACTTATA 0.358000 22 160 0 0 0.000878237 0 0 IDI1 3422 broad.mit.edu 37 10 1087215 1087215 + Missense_Mutation SNP A A G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:1087215A>G ENST00000381344.3 - 5 933 c.767T>C c.(766-768)aTt>aCt p.I256T IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA NM_004508.2 NP_004499.2 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 1 199 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding large_intestine(3)|lung(2)|prostate(1) 6 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) CGCTGCAATAATTTTAAACCA 0.313000 27 30 0 0 0.000586117 0 0 BIRC6 57448 broad.mit.edu 37 2 32654243 32654243 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:32654243G>A ENST00000421745.2 + 11 3036 c.2902G>A c.(2902-2904)Gga>Aga p.G968R NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 968 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CCAAATTGGAGGAACCTGTGA 0.333000 5 21 0 0 8.12818e-05 0 0 P2RY14 9934 broad.mit.edu 37 3 150931937 150931937 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:150931937G>A ENST00000309170.3 - 3 480 c.168C>T c.(166-168)ttC>ttT p.F56F P2RY14_ENST00000424796.2_Silent_p.F56F|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 56 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GATAGATGATGAAACTCTTAG 0.443000 10 69 0 0 0.000978159 0 0 COL7A1 1294 broad.mit.edu 37 3 48613168 48613168 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:48613168C>T ENST00000328333.8 - 72 5977 c.5870G>A c.(5869-5871)cGg>cAg p.R1957Q COL7A1_ENST00000454817.1_Missense_Mutation_p.R1925Q NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1957 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACGATCTCCCGCAGGGCAGA 0.682000 9 21 0 0 0.000442599 0 0 IPO13 9670 broad.mit.edu 37 1 44432202 44432202 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:44432202C>T ENST00000372339.3 + 1 592 c.7C>T c.(7-9)Ctt>Ttt p.L3F IPO13_ENST00000372343.3_Intron O94829 IPO13_HUMAN importin 13 0 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GGGGATGGTCCTTGGAGCTGG 0.607000 5 21 0 0 0.000602214 0 0 DHX57 90957 broad.mit.edu 37 2 39046275 39046275 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:39046275C>T ENST00000295373.6 - 18 3429 c.3303G>A c.(3301-3303)tgG>tgA p.W1101* NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1101 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CTTTTTTATCCCAGGGAGATA 0.393000 11 38 0 0 0.000978159 0 0 FBXO42 54455 broad.mit.edu 37 1 16577664 16577664 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:16577664G>A ENST00000375592.3 - 10 1871 c.1655C>T c.(1654-1656)tCc>tTc p.S552F NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 552 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GGCACCTGGGGAGACGGCCCC 0.592000 11 48 0 0 0.000978159 0 0 UNC13A 23025 broad.mit.edu 37 19 17760345 17760345 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:17760345C>T ENST00000428389.2 - 14 1754 c.1755G>A c.(1753-1755)agG>agA p.R585R UNC13A_ENST00000552293.1_Silent_p.R497R|UNC13A_ENST00000551649.1_Silent_p.R497R|UNC13A_ENST00000550896.1_Silent_p.R497R|UNC13A_ENST00000519716.2_Silent_p.R497R|UNC13A_ENST00000252773.7_Silent_p.R497R Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 497 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GGATAGGTTTCCTCTTGCGGA 0.572000 23 61 0 0 0.000586117 0 0 GPR142 350383 broad.mit.edu 37 17 72366722 72366722 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:72366722G>A ENST00000335666.4 + 3 469 c.421G>A c.(421-423)Gaa>Aaa p.E141K NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 141 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CCAGGAGTTTGAAAGCCACTG 0.637000 6 35 0 0 8.12818e-05 0 0 ARMC12 221481 broad.mit.edu 37 6 35705030 35705030 + Missense_Mutation SNP T T G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:35705030T>G ENST00000373866.3 + 1 167 c.145T>G c.(145-147)Tca>Gca p.S49A ARMC12_ENST00000288065.2_Missense_Mutation_p.S49A|ARMC12_ENST00000373869.3_Missense_Mutation_p.S49A Q5T9G4 CF081_HUMAN armadillo repeat containing 12 49 binding CTGTAGCAACTCACCCATCTG 0.637000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 21 0 0 0.000274275 0 0 APCDD1L 164284 broad.mit.edu 37 20 57036200 57036200 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:57036200G>A ENST00000371149.3 - 4 1382 c.1152C>T c.(1150-1152)gcC>gcT p.A384A APCDD1L_ENST00000439429.1_Silent_p.A395A|APCDD1L_ENST00000491015.1_5'UTR NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 384 integral to membrane p.A384A(1) large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CCATGGACCAGGCCCCCGCAC 0.627000 15 49 0 0 0.000132079 0 0 OR2T10 127069 broad.mit.edu 37 1 248756773 248756773 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:248756773G>A ENST00000330500.2 - 1 327 c.297C>T c.(295-297)acC>acT p.T99T NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) AGTACATCTGGGTGCCACACC 0.522000 8 20 0 0 0.000442599 0 0 LAMB4 22798 broad.mit.edu 37 7 107756507 107756507 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:107756507G>A ENST00000388781.3 - 3 217 c.134C>T c.(133-135)gCt>gTt p.A45V LAMB4_ENST00000388780.3_Missense_Mutation_p.A45V|LAMB4_ENST00000205386.4_Missense_Mutation_p.A45V|LAMB4_ENST00000414450.2_Missense_Mutation_p.A45V NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 45 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGTAGAAGAAGCCATAAGCTG 0.512000 24 102 0 0 0.000375601 0 0 KCND2 3751 broad.mit.edu 37 7 120387884 120387884 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:120387884G>A ENST00000331113.4 + 6 2830 c.1865G>A c.(1864-1866)gGa>gAa p.G622E RP4-797C5.2_ENST00000450480.1_RNA NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 622 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TACTCAGGAGGAAATATTGTC 0.423000 5 28 0 0 3.59834e-05 0 0 ALMS1 7840 broad.mit.edu 37 2 73762047 73762047 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:73762047C>T ENST00000264448.6 + 12 9986 c.9875C>T c.(9874-9876)tCa>tTa p.S3292L ALMS1_ENST00000409009.1_Missense_Mutation_p.S3250L NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3292 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GATTCCAAATCAGATACCACC 0.358000 46 156 0 0 0.000781405 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36273350 36273350 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:36273350C>T ENST00000007510.4 + 13 1305 c.1161C>T c.(1159-1161)tcC>tcT p.S387S ARHGAP33_ENST00000314737.5_Silent_p.S387S|ARHGAP33_ENST00000378944.5_Silent_p.S251S O14559 RHG33_HUMAN Rho GTPase activating protein 33 387 Rho-GAP. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCGTGTCCTCCCTCTGCAAGC 0.597000 9 52 0 0 0.000274275 0 0 VPS13D 55187 broad.mit.edu 37 1 12359375 12359375 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:12359375G>A ENST00000358136.3 + 25 6280 c.6150G>A c.(6148-6150)ggG>ggA p.G2050G VPS13D_ENST00000356315.4_Silent_p.G2050G NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2050 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CAAATTTGGGGAAGTTGAAAG 0.428000 31 58 0 0 0.000491102 0 0 NOL4 8715 broad.mit.edu 37 18 31463336 31463336 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:31463336G>A ENST00000261592.5 - 10 1892 c.1595C>T c.(1594-1596)aCt>aTt p.T532I NOL4_ENST00000535475.1_Missense_Mutation_p.T313I|NOL4_ENST00000589544.1_Missense_Mutation_p.T430I|NOL4_ENST00000269185.4_Missense_Mutation_p.T316I|NOL4_ENST00000535384.1_Missense_Mutation_p.T247I|NOL4_ENST00000538587.1_Missense_Mutation_p.T458I NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 532 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TGTTGAGTAAGTGGCCTGGGT 0.493000 18 65 0 0 0.000566183 0 0 MAN1C1 57134 broad.mit.edu 37 1 26107603 26107603 + Splice_Site SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:26107603G>A ENST00000374332.4 + 10 1980 c.1650_splice c.e10+1 p.L550_splice MAN1C1_ENST00000374329.1_Splice_Site_p.L321_splice|MAN1C1_ENST00000263979.3_Splice_Site_p.L370_splice NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 550 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) AGGTGGTGCTGGTGAGTGGGC 0.622000 10 43 0 0 0.00010058 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466015 160466015 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:160466015G>A ENST00000368059.3 - 2 287 c.218C>T c.(217-219)cCa>cTa p.P73L SLAMF6_ENST00000368057.3_Missense_Mutation_p.P73L|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 73 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GTGGATTTCTGGACTTTTGGT 0.478000 23 116 0 0 0.000375601 0 0 ADRA2B 151 broad.mit.edu 37 2 96781056 96781056 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:96781056G>A ENST00000409345.3 - 1 928 c.833C>T c.(832-834)cCc>cTc p.P278L NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 278 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) GCCTGAGTTGGGAAGGGCAGC 0.617000 6 8 0 0 3.59834e-05 0 0 OR10A2 341276 broad.mit.edu 37 11 6891672 6891672 + Silent SNP C C G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:6891672C>G ENST00000307322.4 + 1 749 c.687C>G c.(685-687)tcC>tcG p.S229S NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CTACATGTTCCTCACACCTCC 0.433000 57 111 0 0 0.000781405 0 0 DOCK10 55619 broad.mit.edu 37 2 225739009 225739009 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:225739009G>A ENST00000409592.3 - 10 1170 c.1057C>T c.(1057-1059)Ctg>Ttg p.L353L DOCK10_ENST00000258390.7_Silent_p.L359L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 359 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGAGAGAACAGATTTAGCCTC 0.333000 8 22 0 0 0.00010058 0 0 MRPS18C 51023 broad.mit.edu 37 4 84379500 84379500 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr4:84379500C>T ENST00000295491.4 + 3 265 c.150_splice c.e3-1 p.P51_splice MRPS18C_ENST00000507019.1_Intron|MRPS18C_ENST00000507349.1_Intron NM_016067.2 NP_057151.1 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C 51 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) TTTCCCTAGCCCATTTCAATG 0.303000 5 43 0 0 3.59834e-05 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963631 73963631 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:73963631G>A ENST00000373468.1 - 3 1412 c.761C>T c.(760-762)tCc>tTc p.S254F KIAA2022_ENST00000055682.5_Missense_Mutation_p.S254F Q5QGS0 K2022_HUMAN KIAA2022 254 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATCCTGATTGGAATTTGCAAG 0.403000 19 134 0 0 0.000958276 0 0 OR6C76 390326 broad.mit.edu 37 12 55820040 55820040 + Translation_Start_Site SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:55820040G>A ENST00000328314.3 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M1I(1) NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CATCAGAAATGAAAAATAGAA 0.348000 14 52 0 0 0.000151284 0 0 LRRC27 80313 broad.mit.edu 37 10 134161692 134161692 + Nonsense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:134161692G>A ENST00000392638.2 + 6 953 c.758G>A c.(757-759)tGg>tAg p.W253* LRRC27_ENST00000368613.4_Nonsense_Mutation_p.W253*|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.W253*|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.W253*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.W191*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.W191*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.W126*|LRRC27_ENST00000368615.3_Nonsense_Mutation_p.W253* Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 253 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) TCAGAGAACTGGCCCAGCGAG 0.562000 13 28 0 0 0.000308642 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834239 125834239 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:125834239C>T ENST00000299308.3 + 2 302 c.294C>T c.(292-294)ccC>ccT p.P98P TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 98 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) AGATAATCCCCCAGGAGCTCC 0.498000 32 98 0 0 0.000491102 0 0 DNAH3 55567 broad.mit.edu 37 16 20986677 20986677 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:20986677C>T ENST00000261383.3 - 51 8136 c.8137G>A c.(8137-8139)Gaa>Aaa p.E2713K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2713 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTGGCAGTTTCCTCGGAGGTG 0.488000 82 144 0 0 0.000781405 0 0 DLG2 1740 broad.mit.edu 37 11 84245701 84245701 + Missense_Mutation SNP G G A rs145869624 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:84245701G>A ENST00000398309.2 - 2 586 c.116C>T c.(115-117)cCa>cTa p.P39L DLG2_ENST00000543673.1_Missense_Mutation_p.P144L|DLG2_ENST00000532653.1_Missense_Mutation_p.P39L|DLG2_ENST00000524982.1_Missense_Mutation_p.P39L|DLG2_ENST00000376104.2_Missense_Mutation_p.P144L NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 39 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CACGAGTTCTGGGCCTCTTAC 0.408000 30 58 0 0 0.000279167 0 0 ZNF813 126017 broad.mit.edu 37 19 53994678 53994678 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:53994678C>T ENST00000396403.4 + 4 1320 c.1192C>T c.(1192-1194)Ctt>Ttt p.L398F ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) GGAGTTAACCCTTAAATGCCA 0.413000 9 74 0 0 0.000274275 0 0 C7 730 broad.mit.edu 37 5 40936531 40936531 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:40936531G>A ENST00000313164.9 + 5 731 c.372G>A c.(370-372)agG>agA p.R124R NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 124 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ACTCAGAAAGGAGACCTTCCT 0.458000 15 21 0 0 0.000308642 0 0 IGHV4-4 28401 broad.mit.edu 37 14 106478141 106478141 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:106478141G>A ENST00000390596.2 - 0 380 CGTGTCCGCGGCGGTCACAGA 0.602000 6 124 0 0 0.000175454 0 0 MORC1 27136 broad.mit.edu 37 3 108751602 108751602 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:108751602C>T ENST00000232603.5 - 16 1612 c.1530G>A c.(1528-1530)tgG>tgA p.W510* MORC1_ENST00000483760.1_Nonsense_Mutation_p.W510* NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 510 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 TAGCACAAATCCAAATGTCAA 0.284000 13 51 0 0 0.000308642 0 0 RIPK2 8767 broad.mit.edu 37 8 90782122 90782122 + Missense_Mutation SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:90782122A>C ENST00000220751.4 + 4 920 c.606A>C c.(604-606)caA>caC p.Q202H RIPK2_ENST00000540020.1_Missense_Mutation_p.Q65H NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 202 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|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 ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) AACCTGGACAAAAATCAAGGG 0.418000 16 191 0 0 0.000308642 0 0 PBXIP1 57326 broad.mit.edu 37 1 154923959 154923959 + Missense_Mutation SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:154923959C>A ENST00000368463.3 - 4 302 c.231G>T c.(229-231)gaG>gaT p.E77D PBXIP1_ENST00000368465.1_Missense_Mutation_p.E48D|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E77D|PBXIP1_ENST00000498553.1_5'UTR NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 77 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGACCTCAGTCTCCTCTGTTA 0.567000 27 65 2.48696e-23 2.597e-22 0.00058488 1 0 ATRN 8455 broad.mit.edu 37 20 3543973 3543973 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:3543973C>T ENST00000262919.5 + 10 1817 c.1749C>T c.(1747-1749)gcC>gcT p.A583A ATRN_ENST00000446916.2_Silent_p.A583A NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 583 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GCCATGGCGCCAAATGCTTCT 0.428000 36 100 0 0 0.00111076 0 0 CEP250 11190 broad.mit.edu 37 20 34090779 34090779 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:34090779C>T ENST00000397527.1 + 30 5302 c.4582C>T c.(4582-4584)Ctt>Ttt p.L1528F CEP250_ENST00000342580.4_Missense_Mutation_p.L1472F NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1528 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGAGCATCAGCTTCTAGAACT 0.532000 19 33 0 0 0.00074312 0 0 DNAH11 8701 broad.mit.edu 37 7 21892165 21892165 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:21892165G>A ENST00000328843.6 + 68 11029 c.10998G>A c.(10996-10998)gcG>gcA p.A3666A DNAH11_ENST00000409508.3_Silent_p.A3659A Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3666 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCCTTTCTGCGGCAGAGGGAA 0.448000 Kartagener syndrome 37 72 0 0 0.000692331 0 0 DCST1 149095 broad.mit.edu 37 1 155023108 155023108 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:155023108G>A ENST00000295542.1 + 17 1981 c.1885G>A c.(1885-1887)Gat>Aat p.D629N DCST1_ENST00000423025.2_Missense_Mutation_p.D604N NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 629 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCCGCTGGCGGATATCCTGCA 0.706000 OREG0013846 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 0 0 0.00024832 0 0 CXorf23 256643 broad.mit.edu 37 X 19983691 19983691 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:19983691C>T ENST00000379687.3 - 3 778 c.745G>A c.(745-747)Gag>Aag p.E249K CXorf23_ENST00000356980.3_Missense_Mutation_p.E249K|CXorf23_ENST00000379682.4_Missense_Mutation_p.E249K NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 249 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 TCTGTGTCCTCTTGGTAAGGT 0.507000 8 70 0 0 0.000274275 0 0 FILIP1L 11259 broad.mit.edu 37 3 99567893 99567893 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:99567893C>T ENST00000331335.5 - 5 3097 c.2627G>A c.(2626-2628)gGa>gAa p.G876E CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.G876E|FILIP1L_ENST00000383694.2_Missense_Mutation_p.G636E|FILIP1L_ENST00000471562.1_Missense_Mutation_p.G636E|FILIP1L_ENST00000487087.1_Missense_Mutation_p.G452E NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 876 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTGCATTTTTCCATTCTGAAG 0.463000 55 123 0 0 0.000781405 0 0 OR10A7 121364 broad.mit.edu 37 12 55615123 55615123 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:55615123C>T ENST00000326258.1 + 1 315 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 ACTTCTTCTTCTTCTTTGGCA 0.423000 26 124 0 0 0.000491102 0 0 POLR3E 55718 broad.mit.edu 37 16 22334249 22334249 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:22334249C>T ENST00000299853.5 + 14 1232 c.1065C>T c.(1063-1065)ttC>ttT p.F355F POLR3E_ENST00000564209.1_Silent_p.F355F|POLR3E_ENST00000418581.2_Silent_p.F319F|POLR3E_ENST00000359210.4_Silent_p.F355F NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 355 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) GCCGAGACTTCGTTGTAAGTA 0.642000 8 8 0 0 0.000274275 0 0 LHCGR 3973 broad.mit.edu 37 2 48914908 48914908 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:48914908G>A ENST00000294954.7 - 11 2049 c.2028C>T c.(2026-2028)tcC>tcT p.S676S STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Silent_p.S649S|LHCGR_ENST00000344775.3_Silent_p.S614S|LHCGR_ENST00000403273.1_3'UTR NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 676 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ACTTCAAGGTGGATTGAGAAG 0.418000 47 81 0 0 0.000781405 0 0 PCYT2 5833 broad.mit.edu 37 17 79864637 79864637 + Splice_Site SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:79864637G>A ENST00000538936.2 - 7 783 c.676_splice c.e7+1 p.F225_splice PCYT2_ENST00000331285.3_Splice_Site_p.F147_splice|PCYT2_ENST00000571105.1_Splice_Site_p.F225_splice|PCYT2_ENST00000538721.2_Splice_Site_p.F243_splice|PCYT2_ENST00000570391.1_Splice_Site_p.F193_splice|PCYT2_ENST00000570388.1_Splice_Site_p.F147_splice NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 225 Catalytic 2 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AGAGGATACGGAACAGGTCGA 0.612000 6 31 0 0 8.12818e-05 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 173029 173029 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:173029G>A ENST00000283426.6 + 15 3050 c.3000G>A c.(2998-3000)caG>caA p.Q1000Q NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1000 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TGAAGGAACAGGGGCAGCTGA 0.498000 31 64 0 0 0.000814825 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212502539 212502539 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:212502539T>C ENST00000261461.2 + 2 818 c.244T>C c.(244-246)Ttt>Ctt p.F82L PPP2R5A_ENST00000537030.3_Missense_Mutation_p.F25L|RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000498129.1_3'UTR NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 82 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TTGTATACTGTTTGATTTCAT 0.328000 15 32 0 0 0.000958276 0 0 CTNNB1 1499 broad.mit.edu 37 3 41278184 41278184 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:41278184C>T ENST00000349496.5 + 13 2340 c.2060C>T c.(2059-2061)cCa>cTa p.P687L CTNNB1_ENST00000396183.3_Missense_Mutation_p.P687L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P687L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P687L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P680L NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 687 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) AGAACAGAGCCAATGGCTTGG 0.443000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 31 81 0 0 0.00058488 0 0 STMN2 11075 broad.mit.edu 37 8 80567129 80567129 + Missense_Mutation SNP A A T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:80567129A>T ENST00000220876.7 + 4 694 c.312A>T c.(310-312)aaA>aaT p.K104N STMN2_ENST00000518111.1_Missense_Mutation_p.K104N|STMN2_ENST00000518491.1_Missense_Mutation_p.K93N NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 104 intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) AGGTGCTGAAACAATTGGCAG 0.483000 9 20 0 0 0.000442599 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71277001 71277001 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:71277001G>A ENST00000398531.1 + 1 393 c.368G>A c.(367-369)gGc>gAc p.G123D KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.G75D NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 123 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 TCCAAAGGTGGCTGTGGTTCC 0.657000 14 89 0 0 0.000958276 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748260 19748260 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr13:19748260C>T ENST00000400113.3 - 5 1200 c.1096G>A c.(1096-1098)Gga>Aga p.G366R NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 366 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCCAGGTCTCCCCCAGGGACC 0.587000 12 38 0 0 0.000219431 0 0 PCNA 5111 broad.mit.edu 37 20 5099424 5099424 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:5099424C>T ENST00000379160.3 - 3 552 c.310G>A c.(310-312)Gaa>Aaa p.E104K PCNA_ENST00000379143.5_Missense_Mutation_p.E104K NM_002592.2 NP_002583.1 P12004 PCNA_HUMAN proliferating cell nuclear antigen 104 cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(2) 9 CTTGGTGCTTCAAATACTAGC 0.413000 DNA polymerases (catalytic subunits) 78 198 0 0 0.000781405 0 0 ALYREF 10189 broad.mit.edu 37 17 79846180 79846180 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:79846180C>T ENST00000331204.4 - 5 722 c.696G>A c.(694-696)agG>agA p.R232R ALYREF_ENST00000505490.2_Silent_p.R239R NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 232 intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding GCTTTGAATTCCTGCCGGCAC 0.642000 7 19 0 0 8.12818e-05 0 0 NUP210L 91181 broad.mit.edu 37 1 154061998 154061998 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:154061998G>A ENST00000368559.3 - 16 2331 c.2260C>T c.(2260-2262)Cgc>Tgc p.R754C NUP210L_ENST00000271854.3_Missense_Mutation_p.R754C NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 754 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAAATGAAGCGAACCTGCAAA 0.498000 47 89 0 0 0.000781405 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125844480 125844480 + Silent SNP T T G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:125844480T>G ENST00000393434.2 - 15 2128 c.1779A>C c.(1777-1779)acA>acC p.T593T ALDH1L1_ENST00000273450.3_Silent_p.T603T|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Silent_p.T492T|ALDH1L1_ENST00000472186.1_Silent_p.T593T NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 593 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TGATCACCACTGTGTTCCCGG 0.567000 13 74 0 0 0.000308642 0 0 OR7G3 390883 broad.mit.edu 37 19 9236999 9236999 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:9236999G>A ENST00000305444.2 - 1 627 c.628C>T c.(628-630)Cct>Tct p.P210S NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 CCAGAGAGAGGAACAACACCT 0.433000 11 85 0 0 0.000673444 0 0 GPR18 2841 broad.mit.edu 37 13 99907337 99907337 + Missense_Mutation SNP A A G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr13:99907337A>G ENST00000340807.3 - 3 1346 c.790T>C c.(790-792)Tac>Cac p.Y264H UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.Y264H|GPR18_ENST00000397473.2_Missense_Mutation_p.Y264H|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 264 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) CAGGGATTGTAACTGTTCTCC 0.498000 13 92 0 0 0.000308642 0 0 GDF10 2662 broad.mit.edu 37 10 48429199 48429199 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:48429199C>T ENST00000224605.2 - 2 952 c.687G>A c.(685-687)gaG>gaA p.E229E NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 229 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CCGGGTCCCTCTCCTCAGAAT 0.687000 6 7 0 0 3.59834e-05 0 0 GRIA1 2890 broad.mit.edu 37 5 153030000 153030000 + Missense_Mutation SNP G G A rs138865459 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:153030000G>A ENST00000285900.5 + 4 914 c.571G>A c.(571-573)Gac>Aac p.D191N GRIA1_ENST00000521843.2_Missense_Mutation_p.D122N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D201N|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.D191N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D111N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D201N NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 191 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCTCTTTCAGGACCTGGAGAA 0.532000 24 70 0 0 0.000586117 0 0 EPPIN 57119 broad.mit.edu 37 20 44171498 44171498 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:44171498C>T ENST00000354280.4 - 3 298 c.232G>A c.(232-234)Gaa>Aaa p.E78K EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.E78K|EPPIN_ENST00000409554.1_Intron|EPPIN_ENST00000555685.1_Missense_Mutation_p.E78K|EPPIN_ENST00000336443.3_Missense_Mutation_p.E62K NM_020398.3 NP_065131.1 epididymal peptidase inhibitor p.E62K(2) TTTGGCATTTCGCATACATCT 0.428000 10 52 0 0 0.000978159 0 0 DSG2 1829 broad.mit.edu 37 18 29104710 29104710 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:29104710G>A ENST00000261590.8 + 8 1082 c.873G>A c.(871-873)acG>acA p.T291T NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 291 Cadherin 3. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TAGAAGTTACGCGCATAAAAG 0.333000 12 41 0 0 0.000151284 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310383 178310383 + Missense_Mutation SNP G G C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:178310383G>C ENST00000322434.3 + 5 1156 c.930G>C c.(928-930)agG>agC p.R310S NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGTCGAAGGTCTGGGCTTT 0.413000 9 52 0 0 0.000274275 0 0 ZNF341 84905 broad.mit.edu 37 20 32344993 32344993 + Missense_Mutation SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:32344993C>A ENST00000375200.1 + 6 1146 c.781C>A c.(781-783)Ccc>Acc p.P261T ZNF341_ENST00000342427.2_Missense_Mutation_p.P261T Q9BYN7 ZN341_HUMAN zinc finger protein 341 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 ATATCCCACCCCCACAGTGTA 0.612000 43 157 1.23713e-20 1.28902e-19 0.000781405 1 0 F11R 50848 broad.mit.edu 37 1 160970879 160970879 + Missense_Mutation SNP G G A rs149683377 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:160970879G>A ENST00000368026.6 - 3 446 c.172C>T c.(172-174)Ccc>Tcc p.P58S F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.P58S|F11R_ENST00000472573.1_5'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 58 Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) TCCACACGGGGAGAAGAAAAG 0.502000 12 33 0 0 0.000308642 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175450 140175450 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:140175450G>A ENST00000526136.1 + 1 901 c.901G>A c.(901-903)Gaa>Aaa p.E301K PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E301K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E301K NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTCAGGGGAAATCAGAAC 0.433000 21 36 0 0 0.000295444 0 0 ZNF561 93134 broad.mit.edu 37 19 9724727 9724727 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:9724727C>T ENST00000302851.3 - 5 657 c.294G>A c.(292-294)ttG>ttA p.L98L ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000424629.1_Silent_p.L29L|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000326044.5_Intron NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 98 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 TTTGATTCTTCAAAAAACCCT 0.323000 20 84 0 0 0.000375601 0 0 ZNF536 9745 broad.mit.edu 37 19 30934830 30934830 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:30934830G>A ENST00000355537.3 + 2 508 c.361G>A c.(361-363)Gag>Aag p.E121K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 121 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) GAGCGACATCGAGGACGACGC 0.642000 11 18 0 0 0.000978159 0 0 TET3 200424 broad.mit.edu 37 2 74328040 74328040 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:74328040C>T ENST00000409262.3 + 9 3720 c.3720C>T c.(3718-3720)ctC>ctT p.L1240L NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1240 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCCCCCTACTCCACTCAGTGT 0.632000 4 9 0 0 0.000602214 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690630 77690630 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:77690630C>T ENST00000521891.2 + 4 3728 c.3280C>T c.(3280-3282)Ctc>Ttc p.L1094F ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1068F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1068F|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1068F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1068 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGAGGACAACCTCAGTGAGAT 0.532000 HNSCC(33;0.089) 96 123 0 0 0.000781405 0 0 SPEG 10290 broad.mit.edu 37 2 220356953 220356953 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:220356953C>T ENST00000312358.7 + 40 9714 c.9582C>T c.(9580-9582)ttC>ttT p.F3194F SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 3194 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCACCCTCTTCTTGCGAAAGG 0.602000 20 36 0 0 0.000375601 0 0 MAN2B2 23324 broad.mit.edu 37 4 6611595 6611595 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr4:6611595G>A ENST00000285599.3 + 13 2113 c.2077G>A c.(2077-2079)Ggg>Agg p.G693R MAN2B2_ENST00000504248.1_Missense_Mutation_p.G642R|MAN2B2_ENST00000504960.1_3'UTR NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 693 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GGGCCATGACGGGGAGCTGCT 0.592000 9 37 0 0 0.000274275 0 0 CPO 130749 broad.mit.edu 37 2 207814428 207814428 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:207814428C>T ENST00000272852.3 + 2 202 c.156C>T c.(154-156)ccC>ccT p.P52P NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 52 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) TATACCACCCCATGGGAGAGG 0.468000 18 37 0 0 0.000958276 0 0 SS18L1 26039 broad.mit.edu 37 20 60733767 60733767 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:60733767G>A ENST00000331758.3 + 2 135 c.109G>A c.(109-111)Gag>Aag p.E37K SS18L1_ENST00000421564.1_Missense_Mutation_p.E37K NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 37 N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) GTGCATCCTGGAGTACCAGAG 0.632000 T SSX1 synovial sarcoma 13 35 0 0 0.00010058 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965875 35965875 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:35965875G>A ENST00000274278.3 - 4 813 c.456C>T c.(454-456)ttC>ttT p.F152F UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.F118F|UGT3A1_ENST00000503189.1_Silent_p.F152F|UGT3A1_ENST00000333811.4_Silent_p.F98F NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 152 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAGCAATCAGGAAAGAACAGA 0.398000 18 38 0 0 0.000132079 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166923790 166923790 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:166923790G>A ENST00000510118.1 - 6 769 c.429C>T c.(427-429)caC>caT p.H143H RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000481261.2_Silent_p.H29H|RPS6KA2_ENST00000405189.3_Silent_p.H29H|RPS6KA2_ENST00000503859.1_Silent_p.H126H|RPS6KA2_ENST00000265678.4_Silent_p.H118H Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 118 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|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) CAATGAAGGGGTGATTCACTT 0.408000 10 29 0 0 0.000442599 0 0 KIAA1549 57670 broad.mit.edu 37 7 138601867 138601867 + Silent SNP A A G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:138601867A>G ENST00000440172.1 - 2 2553 c.2505T>C c.(2503-2505)ggT>ggC p.G835G KIAA1549_ENST00000242365.4_Silent_p.G785G|KIAA1549_ENST00000422774.1_Silent_p.G835G NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 835 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCAACACCGTACCAGTGGGAA 0.547000 O BRAF pilocytic astrocytoma 14 25 0 0 0.000151284 0 0 MAP3K10 4294 broad.mit.edu 37 19 40721043 40721043 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:40721043C>T ENST00000253055.3 + 10 2997 c.2709C>T c.(2707-2709)tcC>tcT p.S903S NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 903 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|bHLH transcription factor binding|JUN kinase kinase kinase activity|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 AACTGGTCTCCTTCGGCCGGA 0.701000 6 7 0 0 8.12818e-05 0 0 ACOXL 55289 broad.mit.edu 37 2 111666435 111666435 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:111666435G>A ENST00000389811.4 + 11 1082 c.858G>A c.(856-858)cgG>cgA p.R286R ACOXL_ENST00000439055.1_Silent_p.R286R Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 286 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 AGACCCTGCGGCTGATGCCCC 0.547000 34 52 0 0 0.00111076 0 0 ASL 435 broad.mit.edu 37 7 65557819 65557819 + Missense_Mutation SNP G G T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:65557819G>T ENST00000304874.9 + 17 1417 c.1315G>T c.(1315-1317)Gcc>Tcc p.A439S ASL_ENST00000380839.4_Missense_Mutation_p.A413S|ASL_ENST00000395331.3_Missense_Mutation_p.A419S|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.A439S NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 439 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) GCAGTATGGTGCCCTGGGCGG 0.697000 26 56 2.48779e-11 2.58075e-10 0.000878237 1 0 DNPH1 10591 broad.mit.edu 37 6 43193826 43193826 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:43193826C>T ENST00000393987.2 - 3 342 c.321G>A c.(319-321)cgG>cgA p.R107R DNPH1_ENST00000230431.6_Silent_p.R107R NM_199184.1 NP_954653.1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 AGGCCACGGCCCGGCCCAGCT 0.622000 7 21 0 0 0.000274275 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48906503 48906503 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:48906503C>T ENST00000394754.1 + 11 3585 c.3471C>T c.(3469-3471)ttC>ttT p.F1157F STON1-GTF2A1L_ENST00000405008.1_Silent_p.F1157F|GTF2A1L_ENST00000403751.3_Silent_p.F453F|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Silent_p.F1110F|GTF2A1L_ENST00000430487.2_Silent_p.F419F|STON1-GTF2A1L_ENST00000309827.2_Silent_p.F1157F NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1110 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) AATGGAAATTCTATTTGAAAG 0.368000 34 70 0 0 0.000270559 0 0 ECM2 1842 broad.mit.edu 37 9 95277109 95277109 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:95277109C>T ENST00000344604.5 - 4 1007 c.858G>A c.(856-858)gaG>gaA p.E286E CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.E264E NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 286 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 cctcgtcctcctcatcctcct 0.632000 19 30 0 0 0.000132079 0 0 THAP6 152815 broad.mit.edu 37 4 76452300 76452300 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr4:76452300C>T ENST00000311638.3 + 5 613 c.545C>T c.(544-546)tCa>tTa p.S182L THAP6_ENST00000502620.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.S140L|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000514480.1_Missense_Mutation_p.S182L|THAP6_ENST00000507885.1_Intron NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 182 microtubule cytoskeleton DNA binding|metal ion binding lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTTCAGAAATCATTGAGGAAG 0.398000 7 28 0 0 0.000274275 0 0 EBF2 64641 broad.mit.edu 37 8 25747344 25747344 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:25747344C>T ENST00000520164.1 - 8 1212 c.675G>A c.(673-675)ctG>ctA p.L225L EBF2_ENST00000408929.3_Silent_p.L77L NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 225 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CAGAAACAGCCAGGACGTGTC 0.463000 22 56 0 0 0.000229342 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337325 6337325 + RNA SNP G G T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:6337325G>T ENST00000507444.1 - 0 80 NR_028351.1 AGTCCCTGGAGAGCAGCAGGG 0.532000 9 76 0.000673444 0.00685055 0.000673444 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781415 128781415 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:128781415G>A ENST00000529694.1 + 2 623 c.247G>A c.(247-249)Gac>Aac p.D83N KCNJ5_ENST00000533599.1_Missense_Mutation_p.D83N|KCNJ5_ENST00000338350.4_Missense_Mutation_p.D83N NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 83 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) CACCCTGGTGGACCTCAAGTG 0.557000 18 63 0 0 0.000958276 0 0 ENPP3 5169 broad.mit.edu 37 6 131973708 131973708 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:131973708C>T ENST00000414305.1 + 5 632 c.304C>T c.(304-306)Cgt>Tgt p.R102C ENPP3_ENST00000427148.2_Missense_Mutation_p.R68C|ENPP3_ENST00000358229.5_Missense_Mutation_p.R102C|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R102C|ENPP3_ENST00000543135.1_Missense_Mutation_p.R68C O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 102 SMB 2. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity p.R102C(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAATAAATTTCGTTGTGGAGA 0.378000 10 43 0 0 0.000151284 0 0 YTHDC2 64848 broad.mit.edu 37 5 112889319 112889319 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:112889319G>A ENST00000161863.4 + 14 2113 c.1900G>A c.(1900-1902)Gaa>Aaa p.E634K YTHDC2_ENST00000515883.1_Missense_Mutation_p.E634K NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 634 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.E634K(2) NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGGATATGACGAAATTGTTGG 0.363000 19 68 0 0 0.000229342 0 0 OR5H15 403274 broad.mit.edu 37 3 97888274 97888274 + Missense_Mutation SNP A A G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:97888274A>G ENST00000356526.2 + 1 731 c.731A>G c.(730-732)cAt>cGt p.H244R NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TGTGGAGCCCATCTCTTCTCT 0.423000 14 73 0 0 0.000566183 0 0 TTC13 79573 broad.mit.edu 37 1 231056330 231056330 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:231056330G>A ENST00000366661.4 - 17 1916 c.1909C>T c.(1909-1911)Cct>Tct p.P637S TTC13_ENST00000414259.1_Missense_Mutation_p.P584S|TTC13_ENST00000366662.4_Missense_Mutation_p.P584S NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 637 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) AATCCTTTAGGATTATTAGCT 0.353000 50 81 0 0 0.000781405 0 0 KDM7A 80853 broad.mit.edu 37 7 139799824 139799824 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:139799824C>T ENST00000397560.2 - 13 1736 c.e13-1 JHDM1D_ENST00000006967.5_Splice_Site NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TCAAGATGTCCTGAAGGTATA 0.448000 21 40 0 0 0.00047179 0 0 RFESD 317671 broad.mit.edu 37 5 94990055 94990055 + Missense_Mutation SNP A A G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:94990055A>G ENST00000458310.1 + 5 1684 c.353A>G c.(352-354)cAt>cGt p.H118R RFESD_ENST00000311364.4_Missense_Mutation_p.H65R|RFESD_ENST00000380005.4_Missense_Mutation_p.H118R|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000513950.2_Intron NM_001131065.1 NP_001124537.1 Q8TAC1 RFESD_HUMAN Rieske (Fe-S) domain containing 65 Rieske 2. 2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 6 all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162) all cancers(79;5.94e-17) GGACCTTTACATTTGGGAGAT 0.249000 22 79 0 0 0.000586117 0 0 RYR3 6263 broad.mit.edu 37 15 34040353 34040353 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:34040353G>A ENST00000389232.4 + 54 8098 c.8028G>A c.(8026-8028)ctG>ctA p.L2676L RYR3_ENST00000415757.3_Silent_p.L2676L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2676 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAGAGTCCCTGAAAACCATGC 0.527000 27 75 0 0 0.000339439 0 0 ITGA8 8516 broad.mit.edu 37 10 15573141 15573141 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:15573141C>T ENST00000378076.3 - 28 3243 c.2890G>A c.(2890-2892)Gat>Aat p.D964N NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 964 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 GCATAGGGATCATTTTTTCTC 0.338000 23 27 0 0 0.000720815 0 0 C7orf33 202865 broad.mit.edu 37 7 148311286 148311286 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:148311286C>T ENST00000307003.2 + 2 718 c.357C>T c.(355-357)ggC>ggT p.G119G NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 119 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CCAGGATGGGCTTGTCCTCAG 0.522000 15 38 0 0 0.000308642 0 0 SAMSN1 64092 broad.mit.edu 37 21 15882726 15882726 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr21:15882726C>T ENST00000285670.2 - 6 844 c.670G>A c.(670-672)Gac>Aac p.D224N SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.D156N NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 156 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGGCCATCGTCATCCAGTCGA 0.488000 10 41 0 0 0.000673444 0 0 LOXL4 84171 broad.mit.edu 37 10 100015377 100015377 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:100015377G>A ENST00000260702.3 - 10 1698 c.1548C>T c.(1546-1548)tcC>tcT p.S516S RP11-34A14.3_ENST00000433374.1_RNA NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 516 SRCR 4. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CGCCACCGTGGGAGCAGTGCA 0.687000 28 32 0 0 0.000227799 0 0 OR6C6 283365 broad.mit.edu 37 12 55688116 55688116 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:55688116C>T ENST00000358433.2 - 1 900 c.901G>A c.(901-903)Gat>Aat p.D301N NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGTAATACATCCCAGAAGACT 0.363000 16 50 0 0 0.000958276 0 0 MUC16 94025 broad.mit.edu 37 19 9046505 9046505 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:9046505G>A ENST00000397910.4 - 5 35329 c.35126C>T c.(35125-35127)tCc>tTc p.S11709F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11711 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 ACTACTATGGGAAAAACTGGA 0.512000 12 81 0 0 0.00010058 0 0 SEZ6L 23544 broad.mit.edu 37 22 26702049 26702049 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr22:26702049G>A ENST00000529632.2 + 6 1649 c.1453G>A c.(1453-1455)Gct>Act p.A485T SEZ6L_ENST00000402979.1_Missense_Mutation_p.A258T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A258T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A485T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A485T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A485T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A485T NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 485 CUB 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GACGATTGAAGCTCCAGAGGG 0.552000 5 49 0 0 3.59834e-05 0 0 CLEC2B 9976 broad.mit.edu 37 12 10007020 10007020 + Nonsense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:10007020G>A ENST00000228438.2 - 4 1234 c.301C>T c.(301-303)Cga>Tga p.R101* CLEC2B_ENST00000538152.1_Nonsense_Mutation_p.R32* NM_005127.2 NP_005118.2 Q92478 CLC2B_HUMAN C-type lectin domain family 2, member B 101 C-type lectin. integral to plasma membrane sugar binding endometrium(1)|large_intestine(3)|lung(1) 5 TGTCCTGTTCGATTTTTTGCC 0.358000 27 71 0 0 0.000339439 0 0 RNF213 57674 broad.mit.edu 37 17 78321975 78321975 + Silent SNP G G A rs144070062 byFrequency TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:78321975G>A ENST00000582970.1 + 29 9983 c.9840G>A c.(9838-9840)gcG>gcA p.A3280A RNF213_ENST00000508628.2_Silent_p.A3329A|RNF213_ENST00000336301.6_Silent_p.A1353A NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGTTCGCAGCGGAGTGGCTGT 0.617000 25 33 0 0 0.000720815 0 0 SLC12A1 6557 broad.mit.edu 37 15 48539600 48539600 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:48539600G>A ENST00000396577.3 + 13 1842 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K SLC12A1_ENST00000558405.1_Missense_Mutation_p.E543K|SLC12A1_ENST00000380993.3_Missense_Mutation_p.E543K NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 543 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GAAAAACAATGAACCCCTGAG 0.338000 9 35 0 0 0.000442599 0 0 LILRA3 11026 broad.mit.edu 37 19 54803599 54803599 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:54803599C>T ENST00000391745.1 - 7 592 c.276G>A c.(274-276)caG>caA p.Q92Q LILRA3_ENST00000251390.3_Silent_p.Q75Q|LILRA3_ENST00000391744.3_Silent_p.Q75Q leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACAAGCTCCTGTGGGATCC 0.542000 18 77 0 0 0.000132079 0 0 IL27 246778 broad.mit.edu 37 16 28511054 28511054 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:28511054G>A ENST00000356897.1 - 5 672 c.650C>T c.(649-651)gCc>gTc p.A217V NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 217 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 CTCCCGCACGGCCCGAGATAA 0.662000 4 20 0 0 0.00024832 0 0 ZFPM2 23414 broad.mit.edu 37 8 106573624 106573624 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:106573624G>A ENST00000407775.2 + 4 585 c.335G>A c.(334-336)cGa>cAa p.R112Q ZFPM2_ENST00000517361.1_5'UTR|ZFPM2_ENST00000520492.1_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 112 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R112Q(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATGGGGAACGAAAAATTCAG 0.438000 36 40 0 0 0.000270559 0 0 STMN4 81551 broad.mit.edu 37 8 27098744 27098744 + Missense_Mutation SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:27098744C>A ENST00000350889.4 - 5 339 c.226G>T c.(226-228)Gac>Tac p.D76Y STMN4_ENST00000522908.1_Missense_Mutation_p.D76Y|STMN4_ENST00000519614.1_Missense_Mutation_p.D49Y|STMN4_ENST00000265770.7_Missense_Mutation_p.D49Y|STMN4_ENST00000519997.1_Missense_Mutation_p.D40Y|STMN4_ENST00000523048.1_Missense_Mutation_p.D76Y NM_030795.2 NP_110422.2 Q9H169 STMN4_HUMAN stathmin-like 4 49 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) ACTTCCATGTCGGAAATGACG 0.557000 13 52 0.000219431 0.00225156 0.000219431 1 0 RIPPLY3 53820 broad.mit.edu 37 21 38385891 38385891 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr21:38385891G>A ENST00000329553.2 + 3 422 c.212G>A c.(211-213)gGa>gAa p.G71E RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 ripply transcriptional repressor 3 GGATCAAAGGGAGCCTTTGGG 0.413000 6 26 0 0 0.000157383 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881249 228881249 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:228881249C>T ENST00000392056.3 - 7 4367 c.4321G>A c.(4321-4323)Ggg>Agg p.G1441R SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1441R NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1441 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCAGGTTCCCCAGCACAGGCT 0.498000 28 42 0 0 0.000184323 0 0 OR4N4 283694 broad.mit.edu 37 15 22382673 22382673 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:22382673C>T ENST00000328795.4 + 1 292 c.201C>T c.(199-201)gcC>gcT p.A67A RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 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) GCAACTTGGCCTTCCTGGATG 0.483000 49 280 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179498794 179498794 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:179498794G>A ENST00000589042.1 - 231 42656 c.42432C>T c.(42430-42432)ttC>ttT p.F14144F TTN_ENST00000359218.5_Silent_p.F5204F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.F5079F|TTN_ENST00000342175.6_Silent_p.F5271F|TTN_ENST00000591111.1_Silent_p.F12503F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.F11576F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12503 Fibronectin type-III 2. 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) GAGGTGACATGAATTTCAGTC 0.358000 19 59 0 0 0.00074312 0 0 BCAR3 8412 broad.mit.edu 37 1 94054934 94054934 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:94054934G>A ENST00000370244.1 - 7 817 c.529C>T c.(529-531)Cgt>Tgt p.R177C BCAR3_ENST00000370247.3_Missense_Mutation_p.R86C|BCAR3_ENST00000260502.6_Missense_Mutation_p.R177C|BCAR3_ENST00000370243.1_Missense_Mutation_p.R177C NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 177 SH2. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) AGAGAGTCACGAACTAGGAAG 0.488000 13 17 0 0 0.00074312 0 0 CDH7 1005 broad.mit.edu 37 18 63526247 63526247 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:63526247G>A ENST00000536984.2 + 9 2153 c.1459G>A c.(1459-1461)Gag>Aag p.E487K CDH7_ENST00000323011.3_Missense_Mutation_p.E487K|CDH7_ENST00000397968.2_Missense_Mutation_p.E487K Q9ULB5 CADH7_HUMAN cadherin 7, type 2 487 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CATGGACTATGAGACCACCGT 0.428000 22 71 0 0 0.000295444 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819591 159819591 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:159819591G>A ENST00000497452.1 - 0 517 CATTGTGAAGGAATCTGGAGG 0.428000 36 212 0 0 0.000692331 0 0 TENM1 10178 broad.mit.edu 37 X 123518064 123518064 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:123518064G>A ENST00000422452.2 - 30 6780 c.6717C>T c.(6715-6717)ggC>ggT p.G2239G STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G2232G NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCTGCAGCAGGCCATTAGAAT 0.463000 17 55 0 0 0.000422831 0 0 DENND2A 27147 broad.mit.edu 37 7 140285496 140285496 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:140285496C>T ENST00000275884.6 - 4 1555 c.1138G>A c.(1138-1140)Gag>Aag p.E380K DENND2A_ENST00000492720.1_Missense_Mutation_p.E380K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E380K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E380K Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 380 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) TAAGGGTTCTCCTTCATTGGC 0.483000 31 133 0 0 0.000692331 0 0 DMBX1 127343 broad.mit.edu 37 1 46977876 46977876 + Missense_Mutation SNP G G A rs142474862 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:46977876G>A ENST00000371956.4 + 4 874 c.859G>A c.(859-861)Gaa>Aaa p.E287K DMBX1_ENST00000360032.3_Missense_Mutation_p.E282K NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 287 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CTCGTCCTTCGAAGTAGGGGG 0.652000 12 35 0 0 0.000978159 0 0 PTPRT 11122 broad.mit.edu 37 20 41076902 41076902 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:41076902C>T ENST00000373198.3 - 9 1753 c.1518G>A c.(1516-1518)tgG>tgA p.W506* PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W506*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W506* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 506 Fibronectin type-III 3. 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) TGGGAGGTTTCCACTGGATGT 0.483000 40 154 0 0 0.000781405 0 0 LRRC56 115399 broad.mit.edu 37 11 551696 551696 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:551696C>T ENST00000270115.7 + 10 1342 c.842C>T c.(841-843)tCc>tTc p.S281F NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 281 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGAGCTGTCCCTGCCTGAG 0.697000 5 13 0 0 8.12818e-05 0 0 ADCY8 114 broad.mit.edu 37 8 131826344 131826344 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:131826344G>A ENST00000286355.5 - 14 4976 c.2884C>T c.(2884-2886)Cat>Tat p.H962Y ADCY8_ENST00000377928.3_Missense_Mutation_p.H831Y NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 962 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCTAGGAAATGGCGGGCCACA 0.527000 HNSCC(32;0.087) 64 65 0 0 0.000781405 0 0 CSMD1 64478 broad.mit.edu 37 8 2836224 2836224 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:2836224G>A ENST00000520002.1 - 56 9034 c.8479C>T c.(8479-8481)Cat>Tat p.H2827Y CSMD1_ENST00000602723.1_Missense_Mutation_p.H2769Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2769Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2827Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2768Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2826Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2827 Sushi 20. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCTTGCAATGGTACAGGATA 0.478000 9 16 0 0 0.000442599 0 0 TEX11 56159 broad.mit.edu 37 X 69945158 69945158 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:69945158C>T ENST00000395889.2 - 13 1079 c.924G>A c.(922-924)atG>atA p.M308I TEX11_ENST00000374333.2_Missense_Mutation_p.M293I|TEX11_ENST00000344304.3_Missense_Mutation_p.M308I NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 308 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AGAGGATTTTCATTTTTAAGA 0.308000 31 96 0 0 0.000814825 0 0 NEO1 4756 broad.mit.edu 37 15 73536753 73536753 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:73536753C>T ENST00000339362.5 + 10 1967 c.1520C>T c.(1519-1521)aCc>aTc p.T507I NEO1_ENST00000558964.1_Missense_Mutation_p.T507I|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.T507I|NEO1_ENST00000261908.6_Missense_Mutation_p.T507I Q92859 NEO1_HUMAN neogenin 1 507 Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 ATGCCAGCGACCGTGTACATC 0.458000 10 43 0 0 0.000978159 0 0 PGD 5226 broad.mit.edu 37 1 10471493 10471493 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:10471493G>A ENST00000538557.1 + 7 743 c.499G>A c.(499-501)Ggc>Agc p.G167S PGD_ENST00000541529.1_Missense_Mutation_p.G158S|PGD_ENST00000270776.8_Missense_Mutation_p.G180S P52209 6PGD_HUMAN phosphogluconate dehydrogenase 180 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) TGAGGGAGCAGGCCACTTCGT 0.537000 6 23 0 0 8.12818e-05 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64748012 64748012 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:64748012C>T ENST00000536360.1 - 6 1688 c.875G>A c.(874-876)gGa>gAa p.G292E Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 292 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CACAACGTTTCCTAGGCTGGA 0.353000 16 54 0 0 0.000958276 0 0 SNORD114-2 767578 broad.mit.edu 37 14 101418202 101418202 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:101418202G>A ENST00000363953.1 + 0 10 NR_003194.1 TGGGACCAATGATAATGACTG 0.328000 28 46 0 0 0.000184323 0 0 TRIM32 22954 broad.mit.edu 37 9 119461791 119461791 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:119461791C>T ENST00000450136.1 + 2 1931 c.1770C>T c.(1768-1770)atC>atT p.I590I ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.I590I NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 590 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 GTGATCTCATCGTGGCTGACA 0.537000 28 36 0 0 0.000184323 0 0 STAT4 6775 broad.mit.edu 37 2 191898252 191898252 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:191898252C>T ENST00000392320.2 - 20 2130 c.1816G>A c.(1816-1818)Gga>Aga p.G606R STAT4_ENST00000358470.4_Missense_Mutation_p.G606R NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 606 SH2. JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AAAGTTATTCCTCCGAGATGG 0.378000 22 47 0 0 0.000229342 0 0 BAGE2 85319 broad.mit.edu 37 21 11098747 11098747 + RNA SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr21:11098747C>T ENST00000470054.1 - 0 178 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tcttactgctccagccccact 0.627000 14 168 0 0 0.000422831 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 28 61 0 0 0.00106085 0 0 KDM3B 51780 broad.mit.edu 37 5 137727397 137727397 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:137727397C>T ENST00000314358.5 + 8 2276 c.2076C>T c.(2074-2076)ctC>ctT p.L692L KDM3B_ENST00000394866.1_Silent_p.L348L|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 692 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AGAAACCCCTCTTCATTACAA 0.562000 21 53 0 0 0.000175454 0 0 TCP10L2 401285 broad.mit.edu 37 6 167592601 167592601 + Missense_Mutation SNP G G A rs116848674 by1000genomes TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:167592601G>A ENST00000366832.2 + 6 891 c.760G>A c.(760-762)Gga>Aga p.G254R NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 254 endometrium(1)|kidney(2)|lung(3) 6 GGCAGCAGCCGGAGTTGCTGG 0.577000 3 13 0 0 0.00024832 0 0 ADAM18 8749 broad.mit.edu 37 8 39468072 39468072 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:39468072C>T ENST00000265707.5 + 6 414 c.369C>T c.(367-369)atC>atT p.I123I ADAM18_ENST00000520772.1_Silent_p.I123I|ADAM18_ENST00000379866.1_Silent_p.I123I|ADAM18_ENST00000541111.1_Intron NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 123 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTGAAAATATCAGTTATGGAA 0.279000 18 28 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9085301 9085301 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:9085301C>T ENST00000397910.4 - 1 6717 c.6514G>A c.(6514-6516)Gcc>Acc p.A2172T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2172 Ser-rich.|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 GCTGAAGAGGCTGTGCCTAAA 0.448000 6 27 0 0 3.59834e-05 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993246 140993246 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:140993246C>T ENST00000285879.4 + 4 342 c.56C>T c.(55-57)tCt>tTt p.S19F MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 19 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) CAGAGTTCCTCTGAGAGTCCT 0.547000 HNSCC(15;0.026) 35 60 0 0 0.00111076 0 0 IGFLR1 79713 broad.mit.edu 37 19 36230278 36230278 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:36230278G>A ENST00000592537.1 - 5 1071 c.971C>T c.(970-972)tCc>tTc p.S324F IGFLR1_ENST00000588992.1_Missense_Mutation_p.S156F|IGFLR1_ENST00000344990.3_Missense_Mutation_p.S136F|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Missense_Mutation_p.S136F|IGFLR1_ENST00000246532.1_Missense_Mutation_p.S324F Q9H665 IGFR1_HUMAN IGF-like family receptor 1 324 integral to membrane|plasma membrane protein binding|receptor activity endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1) 15 CTGGCCCAGGGAGGCAGAGGG 0.642000 4 4 0 0 0.00024832 0 0 FSTL5 56884 broad.mit.edu 37 4 162376250 162376250 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr4:162376250G>A ENST00000306100.5 - 15 2183 c.1747C>T c.(1747-1749)Cac>Tac p.H583Y FSTL5_ENST00000536695.1_Missense_Mutation_p.H582Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.H582Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.H573Y NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 583 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATCGTGTGGTGAGGCACATTC 0.418000 18 21 0 0 0.00074312 0 0 ZNF449 203523 broad.mit.edu 37 X 134494271 134494271 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:134494271C>T ENST00000339249.4 + 5 967 c.827C>T c.(826-828)cCc>cTc p.P276L NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 276 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TGGGAAACCCCCCCAGAGGAT 0.438000 28 64 0 0 0.000878237 0 0 KLHL4 56062 broad.mit.edu 37 X 86880700 86880700 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:86880700C>T ENST00000373119.4 + 6 1373 c.1228C>T c.(1228-1230)Cct>Tct p.P410S KLHL4_ENST00000373114.4_Missense_Mutation_p.P410S NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 410 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TCATCTTTTGCCTGAGAGAAG 0.438000 6 33 0 0 8.12818e-05 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835082 12835082 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:12835082C>T ENST00000357726.4 + 1 99 c.72C>T c.(70-72)gcC>gcT p.A24A NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 24 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCTTGGCCATCCCCACCC 0.577000 28 49 0 0 0.00106085 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42887216 42887216 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:42887216G>A ENST00000342560.5 + 3 604 c.516G>A c.(514-516)atG>atA p.M172I GDAP1L1_ENST00000537864.1_Intron NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 172 endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCGACTCCATGATCCCCAAGT 0.637000 7 15 0 0 0.000442599 0 0 FAM47C 442444 broad.mit.edu 37 X 37029343 37029343 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:37029343G>A ENST00000358047.3 + 1 2912 c.2860G>A c.(2860-2862)Gat>Aat p.D954N NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 954 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GCTAAGAAGTGATGAACCTTT 0.438000 15 133 0 0 0.000566183 0 0 GJA8 2703 broad.mit.edu 37 1 147380211 147380211 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:147380211C>T ENST00000240986.4 + 2 182 c.129C>T c.(127-129)ttC>ttT p.F43F GJA8_ENST00000369235.1_Silent_p.F43F NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 43 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGCAGAGTTCGTGTGGGGGG 0.592000 8 58 0 0 0.000157383 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22868844 22868844 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:22868844C>T ENST00000283645.4 + 20 2846 c.2716C>T c.(2716-2718)Cta>Tta p.L906L TUBGCP5_ENST00000453949.2_Silent_p.L906L NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 906 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TTCCAAGATTCTACACAGTAC 0.393000 9 39 0 0 0.000442599 0 0 DGCR8 54487 broad.mit.edu 37 22 20096481 20096481 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr22:20096481C>T ENST00000351989.3 + 13 2622 c.2193C>T c.(2191-2193)atC>atT p.I731I DGCR8_ENST00000407755.1_Silent_p.I698I|DGCR8_ENST00000383024.2_Silent_p.I698I NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 731 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) ACCTGCACATCCTCAGCAAGC 0.577000 26 62 0 0 0.00106085 0 0 ZNF236 7776 broad.mit.edu 37 18 74611016 74611016 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:74611016C>T ENST00000253159.8 + 11 1924 c.1726C>T c.(1726-1728)Cga>Tga p.R576* ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R578* NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 576 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R576*(2) NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAAAAAATTTCGAACCTCAGG 0.383000 20 74 0 0 0.000375601 0 0 ADRB2 154 broad.mit.edu 37 5 148207177 148207177 + Silent SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:148207177T>C ENST00000305988.4 + 1 1022 c.783T>C c.(781-783)tcT>tcC p.S261S NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 261 S -> P (in Ref. 10; BAD96745). activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TCCGCAGATCTTCCAAGTTCT 0.547000 13 50 0 0 0.000219431 0 0 DLGAP2 9228 broad.mit.edu 37 8 1624770 1624770 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:1624770G>A ENST00000421627.2 + 8 2168 c.2034G>A c.(2032-2034)gtG>gtA p.V678V NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 757 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGGTGCAAGTGGAAGATGAGA 0.567000 3 9 0 0 0.00024832 0 0 ADAM32 203102 broad.mit.edu 37 8 39022299 39022299 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:39022299C>T ENST00000379907.4 + 8 738 c.611C>T c.(610-612)tCt>tTt p.S204F ADAM32_ENST00000437682.2_Missense_Mutation_p.S211F|ADAM32_ENST00000519315.1_Missense_Mutation_p.S204F NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 204 Peptidase M12B. 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) TACTGGGGCTCTGATAGCATG 0.274000 18 73 0 0 0.000295444 0 0 MSH6 2956 broad.mit.edu 37 2 48026039 48026039 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:48026039G>A ENST00000234420.4 + 4 1069 c.917G>A c.(916-918)gGa>gAa p.G306E MSH6_ENST00000540021.1_Missense_Mutation_p.G176E|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.G4E NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 306 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATGGTGACTGGAAATGGCTCT 0.468000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 53 199 0 0 0.000781405 0 0 SRL 6345 broad.mit.edu 37 16 4254574 4254574 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:4254574G>A ENST00000399609.3 - 2 135 c.123C>T c.(121-123)acC>acT p.T41T SRL_ENST00000537996.1_5'UTR NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 500 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 TCAGCATGAGGGTCTTCTCGA 0.582000 39 64 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179605466 179605466 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:179605466C>T ENST00000589042.1 - 48 12718 c.12494G>A c.(12493-12495)gGt>gAt p.G4165D TTN_ENST00000359218.5_Missense_Mutation_p.G3927D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G3802D|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G3994D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G3848D|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3848 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) CATTAGAATACCTTCTTTGGA 0.428000 29 98 0 0 0.00106085 0 0 DPYS 1807 broad.mit.edu 37 8 105441912 105441912 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:105441912C>T ENST00000351513.2 - 5 943 c.811G>A c.(811-813)Gaa>Aaa p.E271K NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 271 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCTATGGGTTCACCATAGACC 0.418000 43 47 0 0 0.000680045 0 0 RYR3 6263 broad.mit.edu 37 15 34078042 34078042 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:34078042C>T ENST00000389232.4 + 66 9518 c.9448C>T c.(9448-9450)Cct>Tct p.P3150S RYR3_ENST00000415757.3_Missense_Mutation_p.P3150S NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3150 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAGCGGGGTCCTGAGAACCT 0.567000 34 112 0 0 0.00111076 0 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 5 102 0 0 8.12818e-05 0 0 CSMD1 64478 broad.mit.edu 37 8 2830723 2830723 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:2830723C>T ENST00000520002.1 - 58 9397 c.8842G>A c.(8842-8844)Gaa>Aaa p.E2948K CSMD1_ENST00000602723.1_Missense_Mutation_p.E2890K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2890K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2948K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2889K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2947K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2948 Sushi 22. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCCCCATTTCACAGGAGAAG 0.557000 34 80 0 0 0.000491102 0 0 TESK1 7016 broad.mit.edu 37 9 35607613 35607613 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:35607613G>A ENST00000336395.5 + 6 905 c.655G>A c.(655-657)Ggc>Agc p.G219S TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 219 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGCCGTGGTGGGCTCCCCATA 0.602000 18 42 0 0 0.000132079 0 0 DUSP26 78986 broad.mit.edu 37 8 33454934 33454934 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:33454934C>T ENST00000256261.4 - 2 617 c.100G>A c.(100-102)Gag>Aag p.E34K DUSP26_ENST00000523956.1_Missense_Mutation_p.E34K NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 34 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) GTTGGCATCTCCTCCAGGGTC 0.557000 14 39 0 0 0.000566183 0 0 MMP8 4317 broad.mit.edu 37 11 102589230 102589230 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:102589230G>A ENST00000236826.3 - 5 797 c.699C>T c.(697-699)gcC>gcT p.A233A NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 233 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) GATACATCAAGGCACCAGGGT 0.468000 10 32 0 0 0.000442599 0 0 URB2 9816 broad.mit.edu 37 1 229773376 229773376 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:229773376G>A ENST00000258243.2 + 4 3152 c.3016G>A c.(3016-3018)Gag>Aag p.E1006K NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1006 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GACGTTCTTAGAGGAGCTAAT 0.458000 16 40 0 0 0.000422831 0 0 GDF2 2658 broad.mit.edu 37 10 48413970 48413970 + Missense_Mutation SNP G G C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:48413970G>C ENST00000249598.1 - 2 1057 c.898C>G c.(898-900)Cac>Gac p.H300D NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 300 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCCTCCTCGTGACTGCTCTCA 0.622000 26 30 0 0 0.000878237 0 0 VPS13B 157680 broad.mit.edu 37 8 100654394 100654394 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:100654394T>C ENST00000358544.2 + 34 5762 c.5651T>C c.(5650-5652)gTt>gCt p.V1884A VPS13B_ENST00000357162.2_Missense_Mutation_p.V1859A|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1884 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GATTCAGATGTTGCTAAGCCC 0.398000 102 104 0 0 0.000781405 0 0 DDI1 414301 broad.mit.edu 37 11 103908478 103908478 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:103908478G>A ENST00000302259.3 + 1 1171 c.928G>A c.(928-930)Gaa>Aaa p.E310K PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 310 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GATTCAAATTGAAGGTGATTT 0.473000 6 68 0 0 3.59834e-05 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227293 56227293 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:56227293C>T ENST00000341744.3 - 4 999 c.680G>A c.(679-681)gGg>gAg p.G227E PMEPA1_ENST00000395816.3_Missense_Mutation_p.G177E|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G192E|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G177E|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G177E NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 227 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGGCGGCGGCCCCTCCATGCG 0.711000 3 7 0 0 6.4e-05 0 0 GALR1 2587 broad.mit.edu 37 18 74963127 74963127 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr18:74963127G>A ENST00000299727.3 + 1 623 c.623G>A c.(622-624)gGc>gAc p.G208D NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 208 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TTCGTCTTCGGCTACCTGCTG 0.697000 25 89 0 0 0.000184323 0 0 SPAG16 79582 broad.mit.edu 37 2 214354699 214354699 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:214354699C>T ENST00000331683.5 + 10 1050 c.955C>T c.(955-957)Ccc>Tcc p.P319S SPAG16_ENST00000374309.3_Missense_Mutation_p.P225S NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 319 cilium assembly cilium axoneme|flagellar axoneme p.P319S(1) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTCAGAATTTCCCATAGATAT 0.308000 20 100 0 0 0.000375601 0 0 NCOA4 8031 broad.mit.edu 37 10 51584898 51584898 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:51584898C>T ENST00000452682.1 + 9 1297 c.1045C>T c.(1045-1047)Cag>Tag p.Q349* NCOA4_ENST00000374082.1_Nonsense_Mutation_p.Q333*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.Q167*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.Q233*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.Q333*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.Q333*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.Q349*|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.Q333* NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 333 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GCTCTTATTCCAGTCCTATAA 0.478000 T RET papillary thyroid 25 26 0 0 0.00106085 0 0 OR10J1 26476 broad.mit.edu 37 1 159409628 159409628 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:159409628G>A ENST00000423932.3 + 1 117 c.80G>A c.(79-81)gGt>gAt p.G27D RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 27 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) GTTTTCCAAGGTTTCTCTAGC 0.398000 19 129 0 0 0.000375601 0 0 SH2B1 25970 broad.mit.edu 37 16 28880631 28880631 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:28880631G>A ENST00000337120.5 + 4 4527 c.1236G>A c.(1234-1236)ctG>ctA p.L412L SH2B1_ENST00000359285.5_Silent_p.L412L|SH2B1_ENST00000538342.1_Silent_p.L76L|SH2B1_ENST00000395532.4_Silent_p.L412L|SH2B1_ENST00000322610.8_Silent_p.L412L|SH2B1_ENST00000545570.1_Silent_p.L102L|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 412 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TGTCCTGCCTGAATCACTCGG 0.627000 17 38 0 0 0.000958276 0 0 OSBPL3 26031 broad.mit.edu 37 7 24932067 24932067 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:24932067C>T ENST00000313367.2 - 2 476 c.25G>A c.(25-27)Ggt>Agt p.G9S OSBPL3_ENST00000409069.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.G9S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.G9S NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 9 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TGGGACACACCAAGGTTCTTC 0.448000 20 53 0 0 0.000132079 0 0 ABCA6 23460 broad.mit.edu 37 17 67083580 67083580 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:67083580G>A ENST00000284425.2 - 29 3907 c.3733C>T c.(3733-3735)Cca>Tca p.P1245S ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1245 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GGTTCTTCTGGATTTGGCTTA 0.373000 25 148 0 0 0.000878237 0 0 EGFLAM 133584 broad.mit.edu 37 5 38438540 38438540 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:38438540G>A ENST00000322350.5 + 17 2793 c.2447G>A c.(2446-2448)gGg>gAg p.G816E EGFLAM_ENST00000336740.6_Missense_Mutation_p.G582E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G816E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G182E NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 816 EGF-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGCTTTGAGGGGCTTCACTGC 0.622000 7 16 0 0 0.000442599 0 0 TAF1A 9015 broad.mit.edu 37 1 222753199 222753199 + Nonsense_Mutation SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:222753199C>A ENST00000350027.4 - 4 460 c.307G>T c.(307-309)Gga>Tga p.G103* TAF1A_ENST00000352967.4_Nonsense_Mutation_p.G103*|TAF1A_ENST00000543857.1_Nonsense_Mutation_p.G103*|TAF1A_ENST00000366890.1_5'UTR|TAF1A_ENST00000391882.1_5'UTR|TAF1A_ENST00000465263.1_5'UTR NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 103 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) ATTTCACTTCCGAGCTTCCAA 0.318000 10 461 0.000978159 0.00992884 0.000978159 1 0 ATG2B 55102 broad.mit.edu 37 14 96792071 96792071 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:96792071G>A ENST00000359933.4 - 15 3245 c.2352C>T c.(2350-2352)ttC>ttT p.F784F NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 784 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CTAGATCTGTGAAGGCTAAAT 0.368000 7 30 0 0 8.12818e-05 0 0 KCNH2 3757 broad.mit.edu 37 7 150644006 150644006 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:150644006C>T ENST00000392968.2 - 12 4121 c.3001G>A c.(3001-3003)Gtc>Atc p.V1001I KCNH2_ENST00000262186.5_Missense_Mutation_p.V1097I|KCNH2_ENST00000330883.4_Missense_Mutation_p.V757I Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 1097 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AGGGGGCTGACGGGCAACAGC 0.657000 25 42 0 0 0.000720815 0 0 MBD6 114785 broad.mit.edu 37 12 57919821 57919821 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:57919821C>T ENST00000355673.3 + 6 1426 c.1070C>T c.(1069-1071)tCa>tTa p.S357L MBD6_ENST00000431731.2_Missense_Mutation_p.S357L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 357 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TCCCACTCCTCATCACTTCGT 0.637000 16 41 0 0 0.000422831 0 0 C11orf82 220042 broad.mit.edu 37 11 82643213 82643213 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:82643213C>T ENST00000533655.1 + 6 1045 c.833C>T c.(832-834)tCc>tTc p.S278F C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.S278F|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000525388.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 278 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 AAGTCCATCTCCATTGCAGAG 0.408000 11 62 0 0 0.000673444 0 0 DNAH7 56171 broad.mit.edu 37 2 196682520 196682520 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:196682520C>T ENST00000312428.6 - 50 9425 c.9325G>A c.(9325-9327)Gga>Aga p.G3109R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3109 AAA 5 (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 TCTTGCATTCCCTCAGGGGTT 0.338000 12 35 0 0 0.000151284 0 0 MAP7D2 256714 broad.mit.edu 37 X 20062573 20062573 + Missense_Mutation SNP C C T rs141115910 byFrequency TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:20062573C>T ENST00000379651.3 - 6 683 c.665G>A c.(664-666)cGa>cAa p.R222Q MAP7D2_ENST00000379643.5_Missense_Mutation_p.R263Q|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R107Q|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R177Q|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R170Q NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 222 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 CTCAATGTTTCGAGTGGGTGA 0.458000 16 147 0 0 0.00074312 0 0 MSANTD1 345222 broad.mit.edu 37 4 3255173 3255173 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr4:3255173C>T ENST00000438480.2 + 2 2307 c.560C>T c.(559-561)tCc>tTc p.S187F MSANTD1_ENST00000507492.1_Missense_Mutation_p.S174F|MSANTD1_ENST00000510580.1_Missense_Mutation_p.S187F NM_001042690.1 NP_001036155.1 Q6ZTZ1 CD044_HUMAN Myb/SANT-like DNA-binding domain containing 1 187 endometrium(1)|lung(2) 3 GATGATCGCTCCGACAGCTCC 0.587000 29 71 0 0 0.000279167 0 0 JPH3 57338 broad.mit.edu 37 16 87678374 87678374 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:87678374C>T ENST00000284262.2 + 2 1135 c.893C>T c.(892-894)tCc>tTc p.S298F NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 298 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GACAAACGCTCCGGCTTCGGC 0.682000 5 24 0 0 3.59834e-05 0 0 RPTN 126638 broad.mit.edu 37 1 152128515 152128515 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:152128515G>A ENST00000316073.3 - 3 1124 c.1060C>T c.(1060-1062)Cat>Tat p.H354Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 354 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGATCATAATGATAACACTGG 0.488000 241 435 0 0 0.000781405 0 0 RSPH3 83861 broad.mit.edu 37 6 159403528 159403528 + Silent SNP G G T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:159403528G>T ENST00000367069.2 - 5 1321 c.685C>A c.(685-687)Cga>Aga p.R229R RSPH3_ENST00000297262.3_Silent_p.R275R|RSPH3_ENST00000252655.1_Silent_p.R371R|RSPH3_ENST00000449822.1_Silent_p.R133R Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 371 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) TTTTCTTCTCGGTGTCGCCTC 0.383000 5 41 0.000602214 0.00613921 0.000602214 1 0 MLXIPL 51085 broad.mit.edu 37 7 73008693 73008693 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:73008693C>T ENST00000313375.3 - 16 2398 c.2351G>A c.(2350-2352)gGg>gAg p.G784E MLXIPL_ENST00000414749.2_Missense_Mutation_p.G782E|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G690E|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G765E|MLXIPL_ENST00000354613.1_Missense_Mutation_p.G763E|MLXIPL_ENST00000395189.1_Missense_Mutation_p.G691E NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 784 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GGACACCATCCCGTTGAAGGA 0.642000 22 44 0 0 0.000295444 0 0 CXorf40A 91966 broad.mit.edu 37 X 148627267 148627267 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:148627267C>T ENST00000441248.1 + 3 1678 c.91C>T c.(91-93)Ctg>Ttg p.L31L CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000514208.1_Silent_p.L31L|CXorf40A_ENST00000422892.2_Silent_p.L31L|CXorf40A_ENST00000359293.5_Silent_p.L31L|CXorf40A_ENST00000434353.2_Silent_p.L31L|CXorf40A_ENST00000423421.1_Silent_p.L31L|CXorf40A_ENST00000450602.2_Silent_p.L31L|CXorf40A_ENST00000423540.2_Silent_p.L31L|CXorf40A_ENST00000393985.3_Silent_p.L31L Q8TE69 CX04A_HUMAN chromosome X open reading frame 40A 31 protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GCGTCCCCTGCTGAGCAGCCA 0.592000 7 35 0 0 0.000157383 0 0 SDC3 9672 broad.mit.edu 37 1 31351554 31351554 + Missense_Mutation SNP G G C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:31351554G>C ENST00000339394.6 - 2 346 c.172C>G c.(172-174)Ccc>Gcc p.P58A SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_5'UTR NM_014654.3 NP_055469.3 O75056 SDC3_HUMAN syndecan 3 58 integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) AGGTCCACGGGTCTCTCGAAG 0.637000 13 78 0 0 0.000308642 0 0 SHPRH 257218 broad.mit.edu 37 6 146264611 146264611 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:146264611G>A ENST00000367503.3 - 9 2304 c.1906C>T c.(1906-1908)Cta>Tta p.L636L SHPRH_ENST00000275233.7_Silent_p.L636L|SHPRH_ENST00000438092.2_Silent_p.L636L|SHPRH_ENST00000367505.2_Silent_p.L636L NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 636 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GCATGATTTAGAGATTCAGCA 0.393000 11 53 0 0 0.000673444 0 0 COL7A1 1294 broad.mit.edu 37 3 48613167 48613167 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:48613167C>T ENST00000328333.8 - 72 5978 c.5871G>A c.(5869-5871)cgG>cgA p.R1957R COL7A1_ENST00000454817.1_Silent_p.R1925R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1957 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCACGATCTCCCGCAGGGCAG 0.687000 9 23 0 0 0.000442599 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117774799 117774799 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:117774799G>A ENST00000528626.1 - 10 1367 c.1294C>T c.(1294-1296)Ctc>Ttc p.L432F TMPRSS13_ENST00000524993.1_Missense_Mutation_p.L467F|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.L467F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.L467F NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 462 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) ACCTCCCGGAGGAAGGGGGAT 0.532000 9 20 0 0 0.000978159 0 0 LSM11 134353 broad.mit.edu 37 5 157178450 157178450 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:157178450G>A ENST00000286307.5 + 2 557 c.501G>A c.(499-501)gtG>gtA p.V167V NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 167 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGAGGGGGTGAAGGTGAATG 0.488000 25 78 0 0 0.000586117 0 0 LCE1F 353137 broad.mit.edu 37 1 152748928 152748928 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:152748928G>A ENST00000334371.2 + 1 81 c.81G>A c.(79-81)ccG>ccA p.P27P NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 27 Pro-rich. keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) gccccacaccgaagtgccccc 0.657000 16 35 0 0 0.000566183 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973353 29973353 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrX:29973353G>A ENST00000378993.1 + 11 2180 c.1507G>A c.(1507-1509)Gga>Aga p.G503R IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G503R NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 503 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GCTTGTGACTGGAGAAATTAA 0.453000 17 51 0 0 0.00074312 0 0 CDH5 1003 broad.mit.edu 37 16 66436860 66436860 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:66436860G>A ENST00000341529.3 + 12 2291 c.2143G>A c.(2143-2145)Gag>Aag p.E715K CDH5_ENST00000539168.1_Missense_Mutation_p.E154K NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 715 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GAAGAAGGACGAGGCGGACCA 0.682000 7 17 0 0 0.000157383 0 0 ITGB3 3690 broad.mit.edu 37 17 45384950 45384950 + Nonsense_Mutation SNP C C T rs121918450 byFrequency TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:45384950C>T ENST00000559488.1 + 14 2264 c.2248C>T c.(2248-2250)Cga>Tga p.R750* ITGB3_ENST00000560629.1_Missense_Mutation_p.P738L|ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R703*|RP11-290H9.4_ENST00000575039.1_RNA NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 750 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CATCCACGACCGAAAAGAATT 0.532000 10 21 0 0 0.00010058 0 0 FDX1L 112812 broad.mit.edu 37 19 10421604 10421604 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:10421604G>A ENST00000541276.1 - 4 332 c.329C>T c.(328-330)gCc>gTc p.A110V FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000393708.3_Missense_Mutation_p.A107V|FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A107V Q6P4F2 ADXL_HUMAN ferredoxin 1-like 107 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) GGCCAGGGAGGCTTCACAGGC 0.612000 6 12 0 0 0.000274275 0 0 GNPDA2 132789 broad.mit.edu 37 4 44712985 44712985 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr4:44712985C>T ENST00000509756.1 - 5 685 c.579G>A c.(577-579)gtG>gtA p.V193V GNPDA2_ENST00000507534.1_Silent_p.V123V|GNPDA2_ENST00000295448.3_Silent_p.V193V|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Silent_p.V159V Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 193 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity endometrium(2)|large_intestine(1)|lung(7)|ovary(1) 11 TAGCATCCATCACTGTCCCCA 0.348000 16 92 0 0 0.00074312 0 0 RADIL 55698 broad.mit.edu 37 7 4874717 4874717 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:4874717C>T ENST00000399583.3 - 4 1124 c.937G>A c.(937-939)Ggg>Agg p.G313R RADIL_ENST00000538469.1_Missense_Mutation_p.G73R|RADIL_ENST00000536091.1_Missense_Mutation_p.G313R NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 313 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) ACCAGCCTCCCCGCGGCCTGG 0.701000 3 11 0 0 0.00024832 0 0 KIF1B 23095 broad.mit.edu 37 1 10399869 10399869 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:10399869C>T ENST00000377086.1 + 32 3667 c.3465C>T c.(3463-3465)ctC>ctT p.L1155L KIF1B_ENST00000263934.6_Silent_p.L1109L|KIF1B_ENST00000377081.1_Silent_p.L1155L O60333 KIF1B_HUMAN kinesin family member 1B 1155 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CGGAGCCCCTCAAAAACAATG 0.403000 9 28 0 0 0.000673444 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815700 106815700 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:106815700C>T ENST00000407775.2 + 8 3640 c.3390C>T c.(3388-3390)aaC>aaT p.N1130N ZFPM2_ENST00000378472.4_Silent_p.N861N|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.N998N|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.N998N|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1130 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGTTCAACAACCTTTCAAACT 0.408000 12 29 0 0 0.000978159 0 0 SETX 23064 broad.mit.edu 37 9 135172314 135172314 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:135172314G>A ENST00000372169.2 - 14 6091 c.5909C>T c.(5908-5910)tCa>tTa p.S1970L SETX_ENST00000224140.5_Missense_Mutation_p.S1970L|SETX_ENST00000393220.1_Missense_Mutation_p.S1970L Q7Z333 SETX_HUMAN senataxin 1970 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AATAGTTTTTGATTTTCCTGT 0.413000 29 31 0 0 0.000409698 0 0 C12orf43 64897 broad.mit.edu 37 12 121442013 121442013 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:121442013G>A ENST00000445832.3 - 6 744 c.642C>T c.(640-642)gcC>gcT p.A214A C12orf43_ENST00000539736.1_Silent_p.A234A|C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000366211.2_Silent_p.A203A|C12orf43_ENST00000288757.3_Silent_p.A244A|C12orf43_ENST00000537817.1_Silent_p.A245A Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 244 Lys-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGTCTCGCTGGCCTTCTTTG 0.567000 179 571 0 0 0.000781405 0 0 GTSE1 51512 broad.mit.edu 37 22 46725451 46725451 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr22:46725451C>T ENST00000454366.1 + 11 2335 c.2123C>T c.(2122-2124)cCg>cTg p.P708L NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 689 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AAACCTTCACCGGTGGTGGGA 0.542000 8 38 0 0 0.000157383 0 0 MFSD12 126321 broad.mit.edu 37 19 3542863 3542863 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:3542863G>A ENST00000398558.4 - 10 1532 c.1533C>T c.(1531-1533)gcC>gcT p.A511A C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron NM_021731.2 NP_068377.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 0 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 AGGCCAGGGGGGCTTCCCAGA 0.632000 5 36 0 0 0.000602214 0 0 FAM135B 51059 broad.mit.edu 37 8 139144977 139144977 + Silent SNP A A C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr8:139144977A>C ENST00000395297.1 - 20 4250 c.4080T>G c.(4078-4080)acT>acG p.T1360T NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1360 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) GTCGGATTAAAGTGCAGTCCT 0.547000 HNSCC(54;0.14) 22 394 0 0 0.000375601 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669099 234669099 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:234669099G>A ENST00000360418.3 + 1 166 c.166G>A c.(166-168)Gaa>Aaa p.E56K UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.E56K|UGT1A3_ENST00000482026.1_Intron P22309 UD11_HUMAN 56 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GAGGGGACATGAAATAGTTGT 0.537000 30 43 0 0 0.000227799 0 0 CAPN13 92291 broad.mit.edu 37 2 30966411 30966411 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:30966411G>A ENST00000295055.8 - 13 1459 c.1283C>T c.(1282-1284)tCc>tTc p.S428F CAPN13_ENST00000534090.2_Missense_Mutation_p.S428F NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 428 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCTGAACGAGGAAAAAAACAC 0.473000 32 66 0 0 0.000409698 0 0 OR6C4 341418 broad.mit.edu 37 12 55945442 55945442 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:55945442C>T ENST00000394256.2 + 1 460 c.432C>T c.(430-432)ttC>ttT p.F144F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 AACTAGTGTTCTGCTCCTGGT 0.463000 43 131 0 0 0.000509022 0 0 OBSCN 84033 broad.mit.edu 37 1 228556587 228556587 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:228556587C>T ENST00000570156.2 + 100 22877 c.22803C>T c.(22801-22803)tcC>tcT p.S7601S OBSCN_ENST00000366707.4_Silent_p.S4278S|OBSCN_ENST00000422127.1_Silent_p.S6644S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6644 Fibronectin type-III 4. 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 cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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) GCGAAGCCTCCGACATTTGGT 0.632000 25 42 0 0 0.000720815 0 0 IL7R 3575 broad.mit.edu 37 5 35876102 35876102 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:35876102C>T ENST00000303115.3 + 8 1023 c.894C>T c.(892-894)ttC>ttT p.F298F IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 298 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ATGTGAGTTTCAATCCTGAAA 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 24 41 0 0 0.00047179 0 0 OR2T10 127069 broad.mit.edu 37 1 248756774 248756774 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:248756774G>A ENST00000330500.2 - 1 326 c.296C>T c.(295-297)aCc>aTc p.T99I NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) GTACATCTGGGTGCCACACCC 0.527000 8 21 0 0 0.000442599 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411721 43411721 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr21:43411721G>A ENST00000310826.5 - 3 2667 c.2484C>T c.(2482-2484)tcC>tcT p.S828S ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Silent_p.S828S|ZBTB21_ENST00000398505.3_Silent_p.S627S|ZBTB21_ENST00000398499.1_Silent_p.S828S NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 GCTCAGGCTGGGATTGGGGCC 0.458000 9 42 0 0 0.000673444 0 0 MMP8 4317 broad.mit.edu 37 11 102589231 102589231 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:102589231G>A ENST00000236826.3 - 5 796 c.698C>T c.(697-699)gCc>gTc p.A233V NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 233 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ATACATCAAGGCACCAGGGTC 0.468000 10 33 0 0 0.000442599 0 0 TPTE 7179 broad.mit.edu 37 21 10906987 10906987 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr21:10906987C>T ENST00000298232.7 - 23 1887 c.1520G>A c.(1519-1521)aGa>aAa p.R507K TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R525K|TPTE_ENST00000342420.5_Missense_Mutation_p.R487K NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 525 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGATAAATTCTCCGTGCTTT 0.358000 11 63 0 0 0.000978159 0 0 ZNF28 7576 broad.mit.edu 37 19 53303978 53303978 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:53303978G>A ENST00000438150.2 - 2 1854 c.961C>T c.(961-963)Cgt>Tgt p.R321C ZNF28_ENST00000457749.2_Missense_Mutation_p.R374C|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321C|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321C P17035 ZNF28_HUMAN zinc finger protein 28 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGAAGCCTACGATGGCGTGCA 0.383000 13 85 0 0 0.000151284 0 0 EIF2B5 8893 broad.mit.edu 37 3 183858487 183858487 + Silent SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:183858487C>A ENST00000273783.3 + 7 1247 c.1125C>A c.(1123-1125)acC>acA p.T375T EIF2B5_ENST00000444495.1_Silent_p.T375T NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 375 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCTTTATCACCAACAGTGTCA 0.572000 5 66 0.000602214 0.00613921 0.000602214 1 0 ZBTB9 221504 broad.mit.edu 37 6 33423652 33423652 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:33423652C>T ENST00000395064.2 + 2 1043 c.775C>T c.(775-777)Ccc>Tcc p.P259S NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 259 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P259S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 GACTGCTACTCCCCGAAAGCT 0.587000 22 36 0 0 0.000720815 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502618 90502618 + Silent SNP C C A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:90502618C>A ENST00000325643.5 + 4 3282 c.3216C>A c.(3214-3216)acC>acA p.T1072T NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTCTGGGGACCACTGGTAACC 0.587000 35 48 4.14481e-20 4.30914e-19 0.000228196 1 0 MUSK 4593 broad.mit.edu 37 9 113449463 113449463 + Missense_Mutation SNP C C G TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:113449463C>G ENST00000416899.2 + 3 399 c.273C>G c.(271-273)gaC>gaG p.D91E MUSK_ENST00000189978.5_Missense_Mutation_p.D91E|MUSK_ENST00000374448.4_Missense_Mutation_p.D91E|MUSK_ENST00000374440.3_5'UTR O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 91 Ig-like 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 GTGTGGAAGACAGTGATGATG 0.522000 19 115 0 0 0.000958276 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217315672 217315672 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:217315672C>T ENST00000357276.4 + 12 2285 c.1955C>T c.(1954-1956)tCc>tTc p.S652F SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S652F NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 652 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GACGTCCTTTCCCAGCTGCCT 0.607000 Schimke Immuno-Osseous Dysplasia 13 45 0 0 0.000151284 0 0 TMEM184B 25829 broad.mit.edu 37 22 38620791 38620791 + Splice_Site SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr22:38620791C>T ENST00000361906.3 - 8 1191 c.e8+1 TMEM184B_ENST00000361684.4_Splice_Site NM_001195072.1|NM_012264.4 NP_001182001.1|NP_036396.2 Q9Y519 T184B_HUMAN transmembrane protein 184B integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) CTGGCTCATACCTTGTGCGTC 0.612000 8 38 0 0 0.000274275 0 0 DNPH1 10591 broad.mit.edu 37 6 43193825 43193825 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:43193825C>T ENST00000393987.2 - 3 343 c.322G>A c.(322-324)Gcc>Acc p.A108T DNPH1_ENST00000230431.6_Missense_Mutation_p.A108T NM_199184.1 NP_954653.1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 AAGGCCACGGCCCGGCCCAGC 0.622000 7 21 0 0 0.000274275 0 0 S100PBP 64766 broad.mit.edu 37 1 33291899 33291899 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:33291899C>T ENST00000373475.5 + 3 453 c.199C>T c.(199-201)Cca>Tca p.P67S S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.P67S|S100PBP_ENST00000373476.1_Missense_Mutation_p.P67S NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 67 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGAAGATGACCCATCATATGA 0.448000 13 63 0 0 0.000219431 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473164 22473164 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:22473164G>A ENST00000557788.2 - 0 106 GAGGGACAGGGTCTCCGAAGG 0.637000 10 75 0 0 0.000978159 0 0 LHFPL4 375323 broad.mit.edu 37 3 9547826 9547826 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:9547826C>T ENST00000287585.6 - 3 753 c.468G>A c.(466-468)cgG>cgA p.R156R NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 156 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) CACACATGTCCCGGATGGTCT 0.632000 20 29 0 0 0.000175454 0 0 FOXE1 2304 broad.mit.edu 37 9 100616457 100616457 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:100616457C>T ENST00000375123.3 + 1 922 c.261C>T c.(259-261)ttC>ttT p.F87F NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 87 cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) CCGAGCGCTTCCCCTTCTACC 0.647000 11 32 0 0 0.000673444 0 0 PAX7 5081 broad.mit.edu 37 1 18958101 18958101 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:18958101G>A ENST00000420770.2 + 1 87 c.4G>A c.(4-6)Gcg>Acg p.A2T PAX7_ENST00000375375.3_Missense_Mutation_p.A2T|PAX7_ENST00000400661.3_Missense_Mutation_p.A2T NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 2 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CGCAAGAATGGCGGCCCTTCC 0.622000 T FOXO1A alveolar rhabdomyosarcoma 9 17 0 0 0.000673444 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337333 6337333 + RNA SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:6337333G>A ENST00000507444.1 - 0 72 NR_028351.1 GAGAGCAGCAGGGATACTTTT 0.527000 24 51 0 0 0.000586117 0 0 SCGB1D4 404552 broad.mit.edu 37 11 62065029 62065029 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:62065029G>A ENST00000358585.1 - 2 210 c.157C>T c.(157-159)Cca>Tca p.P53S NM_206998.1 NP_996881.1 Q6XE38 SG1D4_HUMAN secretoglobin, family 1D, member 4 53 extracellular region binding lung(1)|prostate(1) 2 AGAGCTTCTGGAGGTGGATTA 0.448000 56 149 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179585274 179585274 + Nonsense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:179585274G>A ENST00000589042.1 - 80 23439 c.23215C>T c.(23215-23217)Cga>Tga p.R7739* TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7422*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6495* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7422 Ig-like 59. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R6495*(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) ACCTGCTTTCGATCTTTAACC 0.393000 9 29 0 0 0.000673444 0 0 ZNF114 163071 broad.mit.edu 37 19 48789582 48789582 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:48789582G>A ENST00000595607.1 + 6 1195 c.701G>A c.(700-702)gGa>gAa p.G234E ZNF114_ENST00000315849.1_Missense_Mutation_p.G234E|ZNF114_ENST00000597695.1_Missense_Mutation_p.G200E|ZNF114_ENST00000600687.1_Missense_Mutation_p.G234E Q8NC26 ZN114_HUMAN zinc finger protein 114 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) CGTGAAGACGGATCCCTTAGG 0.468000 25 65 0 0 0.000375601 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50665429 50665429 + Splice_Site SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr22:50665429G>A ENST00000439308.2 - 6 1982 c.1491_splice c.e6+1 p.T497_splice TUBGCP6_ENST00000248846.5_Splice_Site_p.T497_splice NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 497 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACAACTCACGGTGGGAAACGC 0.692000 4 8 0 0 0.00024832 0 0 CR1 1378 broad.mit.edu 37 1 207803915 207803915 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:207803915G>A ENST00000367049.4 + 46 7406 c.7406G>A c.(7405-7407)gGa>gAa p.G2469E CR1_ENST00000367051.1_Missense_Mutation_p.G2019E|CR1_ENST00000400960.2_Missense_Mutation_p.G2019E|CR1_ENST00000367052.1_Missense_Mutation_p.G2019E|CR1_ENST00000367053.1_Missense_Mutation_p.G2019E NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 2019 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 CATTCTCAAGGAGGCAGCAGC 0.343000 15 15 0 0 0.000566183 0 0 CRB1 23418 broad.mit.edu 37 1 197390634 197390634 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:197390634C>T ENST00000367400.3 + 6 1811 c.1676C>T c.(1675-1677)tCc>tTc p.S559F CRB1_ENST00000535699.1_Missense_Mutation_p.S490F|CRB1_ENST00000544212.1_Missense_Mutation_p.S40F|CRB1_ENST00000538660.1_Missense_Mutation_p.S559F|CRB1_ENST00000543483.1_Missense_Mutation_p.S258F|CRB1_ENST00000367399.2_Missense_Mutation_p.S447F|CRB1_ENST00000367397.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 559 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTGTTCATTTCCCACAACACC 0.458000 61 74 0 0 0.000781405 0 0 ZNF114 163071 broad.mit.edu 37 19 48789581 48789581 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:48789581G>A ENST00000595607.1 + 6 1194 c.700G>A c.(700-702)Gga>Aga p.G234R ZNF114_ENST00000315849.1_Missense_Mutation_p.G234R|ZNF114_ENST00000597695.1_Missense_Mutation_p.G200R|ZNF114_ENST00000600687.1_Missense_Mutation_p.G234R Q8NC26 ZN114_HUMAN zinc finger protein 114 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) CCGTGAAGACGGATCCCTTAG 0.468000 27 67 0 0 0.000586117 0 0 COL20A1 57642 broad.mit.edu 37 20 61929332 61929332 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr20:61929332G>A ENST00000422202.1 + 2 221 c.153G>A c.(151-153)ggG>ggA p.G51G COL20A1_ENST00000358894.6_Silent_p.G51G|COL20A1_ENST00000435874.1_Silent_p.G51G|COL20A1_ENST00000326996.6_Silent_p.G51G Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 51 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) AGTCGGAGGGGAGCGGCCTCG 0.632000 11 27 0 0 0.000219431 0 0 C1orf112 55732 broad.mit.edu 37 1 169798453 169798453 + Nonsense_Mutation SNP G G T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:169798453G>T ENST00000286031.6 + 13 1877 c.1177G>T c.(1177-1179)Gaa>Taa p.E393* C1orf112_ENST00000413811.2_Silent_p.V320V|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.E393*|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 393 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) GTGTTCTGGTGAACTCTCTCT 0.393000 9 54 3.86212e-05 0.00039715 0.000673444 1 0 KY 339855 broad.mit.edu 37 3 134322923 134322923 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:134322923G>A ENST00000508956.1 - 10 1478 c.1421C>T c.(1420-1422)tCc>tTc p.S474F KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Missense_Mutation_p.S495F Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 495 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 CCCGTGGAGGGAAGCCAGGAC 0.617000 5 10 0 0 8.12818e-05 0 0 XRN1 54464 broad.mit.edu 37 3 142030585 142030585 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:142030585G>A ENST00000264951.4 - 42 5006 c.4889C>T c.(4888-4890)cCa>cTa p.P1630L XRN1_ENST00000392981.2_Missense_Mutation_p.P1618L NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1630 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 AGTCTGAACTGGAGTGGCTTG 0.418000 16 54 0 0 0.000229342 0 0 TTC37 9652 broad.mit.edu 37 5 94861361 94861361 + Missense_Mutation SNP T T C TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:94861361T>C ENST00000358746.2 - 14 1449 c.1151A>G c.(1150-1152)aAt>aGt p.N384S NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 384 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TCCTGGGATATTATCTGCATC 0.358000 67 195 0 0 0.000781405 0 0 KIF4B 285643 broad.mit.edu 37 5 154396448 154396448 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:154396448C>T ENST00000435029.4 + 1 3189 c.3029C>T c.(3028-3030)aCc>aTc p.T1010I NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1010 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCTAATGATACCCTTCTATCT 0.423000 37 116 0 0 0.00111076 0 0 TTC13 79573 broad.mit.edu 37 1 231056329 231056329 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:231056329G>A ENST00000366661.4 - 17 1917 c.1910C>T c.(1909-1911)cCt>cTt p.P637L TTC13_ENST00000414259.1_Missense_Mutation_p.P584L|TTC13_ENST00000366662.4_Missense_Mutation_p.P584L NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 637 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CAATCCTTTAGGATTATTAGC 0.358000 49 80 0 0 0.000781405 0 0 HTR1E 3354 broad.mit.edu 37 6 87725312 87725312 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr6:87725312G>A ENST00000305344.4 + 2 963 c.260G>A c.(259-261)cGc>cAc p.R87H HTR1E_ENST00000369584.1_Missense_Mutation_p.R87H NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 87 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.R87H(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GTCATGGATCGCTGGAAGCTT 0.572000 23 53 0 0 0.000720815 0 0 TNS3 64759 broad.mit.edu 37 7 47342997 47342997 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:47342997G>A ENST00000398879.1 - 22 3374 c.3008C>T c.(3007-3009)tCc>tTc p.S1003F TNS3_ENST00000355730.3_Missense_Mutation_p.S763F|TNS3_ENST00000311160.9_Missense_Mutation_p.S1003F Q68CZ2 TENS3_HUMAN tensin 3 1003 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CTCTGCTAGGGACAGCTCATG 0.677000 10 23 0 0 0.000978159 0 0 DPP10 57628 broad.mit.edu 37 2 116101408 116101408 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:116101408C>T ENST00000410059.1 + 3 671 c.191C>T c.(190-192)tCg>tTg p.S64L DPP10_ENST00000409163.1_Missense_Mutation_p.S14L|DPP10_ENST00000393147.2_Missense_Mutation_p.S68L|DPP10_ENST00000310323.8_Missense_Mutation_p.S57L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 64 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CTCACAAATTCGTCAGAAACC 0.348000 19 54 0 0 0.000295444 0 0 NEK10 152110 broad.mit.edu 37 3 27215979 27215979 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:27215979C>T ENST00000429845.2 - 29 3089 c.2727G>A c.(2725-2727)tcG>tcA p.S909S NEK10_ENST00000295720.6_Silent_p.S221S|NEK10_ENST00000383770.3_Silent_p.S221S|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Silent_p.S306S|NEK10_ENST00000383771.4_Silent_p.S221S Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 909 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGGAGTTATCCGAAATGTCCA 0.383000 27 51 0 0 0.000227799 0 0 MET 4233 broad.mit.edu 37 7 116412001 116412001 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:116412001G>A ENST00000397752.3 + 14 3186 c.2986G>A c.(2986-2988)Gtt>Att p.V996I MET_ENST00000318493.6_Missense_Mutation_p.V1014I NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 996 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1) 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) TACAGAAATGGTTTCAAATGA 0.408000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 11 50 0 0 0.000151284 0 0 TESK1 7016 broad.mit.edu 37 9 35607612 35607612 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:35607612G>A ENST00000336395.5 + 6 904 c.654G>A c.(652-654)gtG>gtA p.V218V TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 218 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGCCGTGGTGGGCTCCCCAT 0.602000 20 43 0 0 0.000229342 0 0 PPP3R1 5534 broad.mit.edu 37 2 68413777 68413777 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:68413777G>A ENST00000234310.3 - 5 691 c.288C>T c.(286-288)ttC>ttT p.F96F PPP3R1_ENST00000409752.1_Silent_p.F115F|PPP3R1_ENST00000409377.1_Silent_p.F86F NM_000945.3 NP_000936.1 P63098 CANB1_HUMAN protein phosphatase 3, regulatory subunit B, alpha 96 EF-hand 3. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals calcineurin complex|cytosol calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding large_intestine(1) 1 Pimecrolimus(DB00337) CATAGATACGGAAAGCAACTA 0.343000 6 24 0 0 8.12818e-05 0 0 YEATS2 55689 broad.mit.edu 37 3 183454519 183454519 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:183454519C>T ENST00000305135.5 + 8 1021 c.826C>T c.(826-828)Cac>Tac p.H276Y NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 276 YEATS. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCCTCCTTTTCACCTGACCAG 0.418000 55 95 0 0 0.000781405 0 0 COL11A1 1301 broad.mit.edu 37 1 103544216 103544216 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:103544216C>T ENST00000358392.2 - 3 803 c.486G>A c.(484-486)ggG>ggA p.G162G COL11A1_ENST00000353414.4_Silent_p.G162G|COL11A1_ENST00000370096.3_Silent_p.G162G|COL11A1_ENST00000512756.1_Silent_p.G162G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 162 TSP N-terminal. 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) TTACTTACTTCCCGTCAGCGA 0.358000 18 22 0 0 0.00074312 0 0 FLNC 2318 broad.mit.edu 37 7 128485004 128485004 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:128485004G>A ENST00000325888.8 + 21 3746 c.3485G>A c.(3484-3486)gGa>gAa p.G1162E FLNC_ENST00000346177.6_Missense_Mutation_p.G1162E NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1162 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGGGCCAGTGGACCGGGCCTG 0.622000 16 43 0 0 0.000422831 0 0 PSG9 5678 broad.mit.edu 37 19 43762220 43762220 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:43762220C>T ENST00000244293.7 - 4 1164 c.1098G>A c.(1096-1098)ctG>ctA p.L366L PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Silent_p.L273L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 0 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TGGGAGGGTTCAGGAGGAGAA 0.453000 4 8 0 0 0.00024832 0 0 FLG2 388698 broad.mit.edu 37 1 152326064 152326064 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:152326064C>T ENST00000388718.5 - 3 4270 c.4198G>A c.(4198-4200)Gga>Aga p.G1400R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1400 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCATGTCCAGTGGCCTCT 0.507000 90 129 0 0 0.000781405 0 0 DNAH10 196385 broad.mit.edu 37 12 124285925 124285925 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:124285925G>A ENST00000409039.3 + 15 2231 c.2206G>A c.(2206-2208)Gaa>Aaa p.E736K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 736 Stem (By similarity). 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) TCATTCCCAGGAACTGCTCCG 0.448000 36 77 0 0 0.000692331 0 0 DNAH5 1767 broad.mit.edu 37 5 13841969 13841969 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:13841969C>T ENST00000265104.4 - 33 5420 c.5316G>A c.(5314-5316)acG>acA p.T1772T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1772 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCAATTCAATCGTCTCACCCT 0.353000 Kartagener syndrome 36 82 0 0 0.000270559 0 0 DENND1C 79958 broad.mit.edu 37 19 6468913 6468913 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:6468913G>A ENST00000381480.2 - 20 1571 c.1459C>T c.(1459-1461)Ccc>Tcc p.P487S DENND1C_ENST00000543576.1_Missense_Mutation_p.P443S NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 487 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GAGCGGCTGGGGAGGGCTGGG 0.617000 5 20 0 0 0.000602214 0 0 OR4L1 122742 broad.mit.edu 37 14 20528638 20528638 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr14:20528638G>A ENST00000315683.1 + 1 435 c.435G>A c.(433-435)gcG>gcA p.A145A NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGGGGTTTGCGATACTTTCAT 0.388000 24 53 0 0 0.000375601 0 0 GALNT13 114805 broad.mit.edu 37 2 155099411 155099411 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:155099411G>A ENST00000392825.3 + 6 1246 c.679G>A c.(679-681)Gaa>Aaa p.E227K GALNT13_ENST00000409237.1_Missense_Mutation_p.E227K NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 227 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AAGAATAAAGGAAGACAGGTA 0.448000 6 17 0 0 0.000157383 0 0 BET1L 51272 broad.mit.edu 37 11 205627 205627 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:205627C>T ENST00000325147.9 - 3 212 c.152G>A c.(151-153)cGg>cAg p.R51Q BET1L_ENST00000529614.2_Intron|BET1L_ENST00000382762.3_Missense_Mutation_p.R51Q|BET1L_ENST00000410108.1_Missense_Mutation_p.R51Q|BET1L_ENST00000486280.1_Missense_Mutation_p.R28Q|BET1L_ENST00000332865.6_Missense_Mutation_p.R51Q Q9NYM9 BET1L_HUMAN Bet1 golgi vesicular membrane trafficking protein-like 51 t-SNARE coiled-coil homology. protein transport|retrograde transport, endosome to Golgi endosome|SNARE complex SNAP receptor activity all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) ATCCAGGTACCGGTTCTGATC 0.582000 8 37 0 0 0.000157383 0 0 ACP6 51205 broad.mit.edu 37 1 147131150 147131150 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:147131150G>A ENST00000369238.5 - 4 931 c.484C>T c.(484-486)Cgt>Tgt p.R162C ACP6_ENST00000392988.2_Missense_Mutation_p.R162C NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 162 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) TTAGTGGAACGAATACTGAAA 0.398000 33 52 0 0 0.000409698 0 0 KNDC1 85442 broad.mit.edu 37 10 135026355 135026355 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr10:135026355G>A ENST00000304613.3 + 24 4393 c.4372G>A c.(4372-4374)Gag>Aag p.E1458K KNDC1_ENST00000368572.2_Missense_Mutation_p.E1460K Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1458 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CAAGACCAGTGAGAAGGGGCC 0.647000 16 16 0 0 0.000132079 0 0 RUSC2 9853 broad.mit.edu 37 9 35556373 35556373 + Missense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr9:35556373C>T ENST00000455600.1 + 5 3480 c.2911C>T c.(2911-2913)Cct>Tct p.P971S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 971 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GACGGAGAAGCCTCCAGCTGA 0.527000 19 42 0 0 0.000132079 0 0 GRIA1 2890 broad.mit.edu 37 5 153149865 153149865 + Silent SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:153149865C>T ENST00000285900.5 + 13 2503 c.2160C>T c.(2158-2160)tcC>tcT p.S720S GRIA1_ENST00000521843.2_Silent_p.S651S|GRIA1_ENST00000518783.1_Silent_p.S730S|GRIA1_ENST00000340592.5_Silent_p.S720S|GRIA1_ENST00000518142.1_Silent_p.S640S|GRIA1_ENST00000448073.4_Silent_p.S730S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 720 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCCTGGAGTCCACCATGAATG 0.502000 4 34 0 0 0.000602214 0 0 CYFIP2 26999 broad.mit.edu 37 5 156723741 156723741 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:156723741G>A ENST00000347377.6 + 5 777 c.346G>A c.(346-348)Gag>Aag p.E116K CYFIP2_ENST00000377576.3_Missense_Mutation_p.E116K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E90K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E116K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E41K|CYFIP2_ENST00000522463.1_Intron NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 116 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAGGTGCTGGAGCCGGAGGT 0.512000 43 210 0 0 0.000781405 0 0 EHD1 10938 broad.mit.edu 37 11 64622932 64622932 + Silent SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr11:64622932G>A ENST00000320631.3 - 4 1196 c.942C>T c.(940-942)ctC>ctT p.L314L EHD1_ENST00000359393.2_Silent_p.L314L NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 314 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TCTCTTTCTTGAGGGAGCTGA 0.547000 OREG0004024 type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 19 117 0 0 0.000295444 0 0 ABCC1 4363 broad.mit.edu 37 16 16110416 16110416 + Nonsense_Mutation SNP C C T TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr16:16110416C>T ENST00000399408.2 + 5 728 c.553C>T c.(553-555)Cag>Tag p.Q185* ABCC1_ENST00000349029.5_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000399410.3_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.Q185* P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 185 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) CTTACTCATTCAGCTCGTCTT 0.493000 56 220 0 0 0.000781405 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27832436 27832436 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr12:27832436G>A ENST00000318304.8 + 19 1931 c.1648G>A c.(1648-1650)Gag>Aag p.E550K PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E519K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E544K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E397K NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 550 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) AACAGAAAAAGAGACAGCAGA 0.418000 31 103 0 0 0.000409698 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693133 187693133 + Missense_Mutation SNP G G A TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:187693133G>A ENST00000295131.2 - 9 1519 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 494 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AGATACCTGGGAAAATGTTGG 0.318000 14 24 0 0 0.000422831 0 0 PADI4 23569 broad.mit.edu 37 1 17668570 17668571 + Frame_Shift_Ins INS - - G rs34743635 TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:17668570_17668571insG ENST00000375448.4 + 7 811_812 c.785_786insG c.(784-786)cggfs p.R262fs AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 262 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) ACCGACTTCCCGGGGCTCATTA 0.634 11 89 --- --- --- --- LEPR 3953 broad.mit.edu 37 1 66102426 66102429 + Frame_Shift_Del DEL TCTA TCTA - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr1:66102426_66102429delTCTA ENST00000349533.6 + 20 3411_3414 c.3226_3229delTCTA c.(3226-3231)tcfs p.SI1076fs LEPR_ENST00000406510.3_Frame_Shift_Del_p.SI143fs NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1076 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TGATAAAAAGTCTATCTATTATTT 0.402 17 136 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88874269 88874270 + Frame_Shift_Del DEL CT CT - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr2:88874269_88874270delCT ENST00000303236.3 - 13 3032_3033 c.2731_2732delAG c.(2731-2733)gfs p.R911fs EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|AC104134.2_ENST00000413234.1_RNA NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 911 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACACACGCTCCTCTCTCTCTCC 0.465 7 980 --- --- --- --- CBLB 868 broad.mit.edu 37 3 105412365 105412367 + In_Frame_Del DEL GGA GGA - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:105412365_105412367delGGA ENST00000264122.4 - 13 2346_2348 c.2025_2027delTCC c.(2023-2028)cca>cc p.PP675del CBLB_ENST00000403724.1_In_Frame_Del_p.PP675del|CBLB_ENST00000405772.1_In_Frame_Del_p.PP675del|CBLB_ENST00000394027.3_In_Frame_Del_p.PP697del NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 675 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GGTGGTAACTGGAGGAGGAGGAG 0.414 Mis S AML 9 44 --- --- --- --- COL6A6 131873 broad.mit.edu 37 3 130300683 130300685 + In_Frame_Del DEL CTC CTC - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:130300683_130300685delCTC ENST00000358511.6 + 8 3857_3859 c.3826_3828delCTC c.(3826-3828)del p.L1276del COL6A6_ENST00000453409.2_In_Frame_Del_p.L1276del NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1276 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ACCATCTCTTCTCAATGCAAACC 0.365 31 296 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 4 5 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388533 44388534 + Frame_Shift_Del DEL AG AG - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr5:44388533_44388534delAG ENST00000264664.4 - 1 365_366 c.251_252delCT c.(250-252)tfs p.S84fs NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 84 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) ACTTGGTGAAAGAGAATAGCTT 0.510 10 70 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569579 77569580 + Frame_Shift_Del DEL TC TC - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr7:77569579_77569580delTC ENST00000416283.2 + 12 1724_1725 c.1598_1599delTC c.(1597-1599)tfs p.F535fs PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGTGGATTTTCTTTTTTTTGC 0.307 7 226 --- --- --- --- RFXAP 5994 broad.mit.edu 37 13 37393673 37393673 + Frame_Shift_Del DEL C C - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr13:37393673delC ENST00000255476.2 + 1 313 c.179delC c.(178-180)gcfs p.A60fs NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 60 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) GAGGCTGCGGCCCCCGGGGGC 0.706 2 4 --- --- --- --- HCN4 10021 broad.mit.edu 37 15 73660292 73660292 + Frame_Shift_Del DEL C C - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr15:73660292delC ENST00000261917.3 - 1 1313 c.320delG c.(319-321)gcfs p.G109fs NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 109 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GCTGCCGCCGCCCCGGCTGCC 0.781 2 4 --- --- --- --- NLK 51701 broad.mit.edu 37 17 26449708 26449708 + Frame_Shift_Del DEL A A - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr17:26449708delA ENST00000407008.3 + 2 1256 c.538delA c.(538-540)aafs p.K180fs NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 180 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGTCTCTTGCAAAAGGGTCTT 0.408 40 63 --- --- --- --- PEG3 5178 broad.mit.edu 37 19 57347474 57347475 + Splice_Site DEL TG TG - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chr19:57347474_57347475delTG ENST00000326441.9 - 2 115 c.e2-2 ZIM2_ENST00000599935.1_Splice_Site|ZIM2_ENST00000221722.5_Splice_Site|PEG3_ENST00000593695.1_Splice_Site|PEG3_ENST00000598410.1_Splice_Site|ZIM2_ENST00000593711.1_Splice_Site|PEG3_ENST00000594706.1_Splice_Site|PEG3_ENST00000423103.2_Splice_Site|ZIM2_ENST00000391708.3_Splice_Site NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 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) AAGGCAAAGCTGTAGAGGAAAA 0.470 2 4 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-D3-A2JN-06A-11D-A196-08 TCGA-D3-A2JN-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11 55241a91-a843-4d48-9a49-9720edc9642a g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 7 23 --- --- --- ---