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 LVRN 206338 broad.mit.edu 37 5 115298444 115298444 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:115298444C>T ENST00000357872.4 + 1 254 c.130C>T c.(130-132)Cca>Tca p.P44S AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 44 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CGAGCGCGTCCCACCGTCGGA 0.697000 10 11 0 0 0.006214 0 0 ZNF746 155061 broad.mit.edu 37 7 149191310 149191310 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:149191310C>T ENST00000461958.2 - 2 505 c.309G>A c.(307-309)aaG>aaA p.K103K ZNF746_ENST00000458143.2_Silent_p.K103K|ZNF746_ENST00000340622.3_Silent_p.K103K Q6NUN9 ZN746_HUMAN zinc finger protein 746 103 KRAB. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGACTCCCCCTTGCTGCCCG 0.652000 94 87 0 0 0.003610 0 0 CHMP2B 25978 broad.mit.edu 37 3 87302634 87302634 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:87302634G>A ENST00000263780.4 + 5 743 c.505G>A c.(505-507)Gaa>Aaa p.E169K CHMP2B_ENST00000494980.1_Missense_Mutation_p.E139K|CHMP2B_ENST00000471660.1_Missense_Mutation_p.E128K NM_014043.3 NP_054762.2 Q9UQN3 CHM2B_HUMAN charged multivesicular body protein 2B 169 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane|mitochondrion|nucleus protein domain specific binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 12 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGTTCTTGATGAAATTGGAAT 0.358000 9 24 0 0 0.006214 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135770121 135770121 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:135770121C>T ENST00000250617.6 - 11 2420 c.1215G>A c.(1213-1215)ctG>ctA p.L405L ARHGEF6_ENST00000370620.1_Silent_p.L251L|ARHGEF6_ENST00000370622.1_Silent_p.L251L|ARHGEF6_ENST00000535227.1_Silent_p.L278L NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 405 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CGATTGCTTTCAGAATATCCT 0.378000 8 147 0 0 0.003080 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183195 39183195 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:39183195G>A ENST00000361883.5 - 1 259 c.213C>T c.(211-213)tgC>tgT p.C71C NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 71 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) AGCTTGGCTGGCAGCAGCTGG 0.612000 21 63 0 0 0.008871 0 0 PKP1 5317 broad.mit.edu 37 1 201294192 201294192 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:201294192A>T ENST00000263946.3 + 12 2272 c.2021A>T c.(2020-2022)cAa>cTa p.Q674L PKP1_ENST00000367324.3_Missense_Mutation_p.Q653L|PKP1_ENST00000352845.3_Missense_Mutation_p.Q674L NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 674 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 TCGCAGCCACAACTGGCCAAG 0.592000 37 158 0 0 0.006230 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801049 185801049 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:185801049C>A ENST00000302277.6 + 4 1520 c.926C>A c.(925-927)cCt>cAt p.P309H NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 309 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTATTATTACCTTCATTTTGC 0.343000 9 27 0.000274275 0.000319666 0.004482 1 0 ATP7B 540 broad.mit.edu 37 13 52544664 52544664 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:52544664C>A ENST00000242839.4 - 3 1663 c.1507G>T c.(1507-1509)Gtg>Ttg p.V503L ATP7B_ENST00000542656.1_Missense_Mutation_p.V471L|ATP7B_ENST00000344297.5_Missense_Mutation_p.V503L|ATP7B_ENST00000418097.2_Missense_Mutation_p.V503L|ATP7B_ENST00000448424.2_Missense_Mutation_p.V503L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.V392L|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 503 HMA 5. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ATGTTAGACACACAGGATGCA 0.488000 Wilson disease 40 160 1.03484e-13 1.63499e-13 0.005524 1 0 IMPG1 3617 broad.mit.edu 37 6 76715160 76715160 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:76715160A>G ENST00000369950.3 - 10 1168 c.979T>C c.(979-981)Tcc>Ccc p.S327P IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 327 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ATTTTGTTGGAATCAAAAGAC 0.448000 4 68 0 0 0.000248 0 0 DNAH1 25981 broad.mit.edu 37 3 52403852 52403852 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:52403852G>T ENST00000420323.2 + 38 6216 c.5955G>T c.(5953-5955)atG>atT p.M1985I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1985 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAATGACCATGATGTTCGAGG 0.622000 16 33 0.00400662 0.00454176 0.004007 1 0 CTAG2 30848 broad.mit.edu 37 X 153880627 153880627 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:153880627G>A ENST00000247306.4 - 2 611 c.548C>T c.(547-549)cCa>cTa p.P183L CTAG2_ENST00000369585.3_Intron NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 183 Poly-Pro. centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGCGGGCCTGGTGTACCAGG 0.607000 42 116 0 0 0.008740 0 0 C2orf78 388960 broad.mit.edu 37 2 74040627 74040627 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:74040627C>T ENST00000409561.1 + 2 242 c.121C>T c.(121-123)Cct>Tct p.P41S NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 41 Ser-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TACGTCTTTACCTGGAACTGC 0.423000 6 20 0 0 0.001168 0 0 IGHE 3497 broad.mit.edu 37 14 106066439 106066439 + RNA SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:106066439G>T ENST00000577108.1 - 0 107 IGHE_ENST00000576077.1_RNA CTCGCTGGACGGTCTGTGAGG 0.607000 26 58 2.65835e-16 4.38859e-16 0.007291 1 0 XPC 7508 broad.mit.edu 37 3 14220052 14220052 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:14220052G>A ENST00000285021.7 - 1 231 c.17C>T c.(16-18)gCg>gTg p.A6V LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.A6V NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 6 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCCGCCGGCCGCGCGTTTCCG 0.701000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 46 0 0 0.008291 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776202 77776202 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:77776202G>A ENST00000521891.2 + 11 10700 c.10252G>A c.(10252-10254)Gca>Aca p.A3418T ZFHX4_ENST00000518282.1_Missense_Mutation_p.A3392T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A3369T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A3373T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3369 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) TGAAGACGCCGCAGTAAATCA 0.423000 HNSCC(33;0.089) 7 23 0 0 0.001984 0 0 CCDC120 90060 broad.mit.edu 37 X 48920062 48920062 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:48920062G>C ENST00000376396.3 + 4 332 c.113G>C c.(112-114)cGg>cCg p.R38P CCDC120_ENST00000597275.1_Missense_Mutation_p.R38P|CCDC120_ENST00000422185.2_Missense_Mutation_p.R38P|CCDC120_ENST00000496529.2_Missense_Mutation_p.R38P|CCDC120_ENST00000536628.2_Missense_Mutation_p.R26P|CCDC120_ENST00000603986.1_Missense_Mutation_p.R73P NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 38 protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 CTGCTTGACCGGCAGCGGACC 0.652000 21 34 0 0 0.001523 0 0 TECPR1 25851 broad.mit.edu 37 7 97870247 97870247 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:97870247G>A ENST00000447648.2 - 8 1148 c.849C>T c.(847-849)atC>atT p.I283I TECPR1_ENST00000542604.1_Silent_p.I213I|TECPR1_ENST00000379795.3_Silent_p.I283I Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 283 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAGGCTCCACGATGGACCAGG 0.612000 9 4 0 0 0.006214 0 0 MICAL3 57553 broad.mit.edu 37 22 18301796 18301796 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:18301796C>A ENST00000441493.2 - 26 3983 c.3631G>T c.(3631-3633)Gat>Tat p.D1211Y NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1211 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GAGGGGGCATCAGCTTTGGGC 0.622000 7 24 1.06961e-07 1.41901e-07 0.003080 1 0 EYS 346007 broad.mit.edu 37 6 66112371 66112371 + Splice_Site SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:66112371C>G ENST00000503581.1 - 7 1721 c.1184_splice c.e7+1 p.S395_splice EYS_ENST00000370618.3_Splice_Site_p.S395_splice|EYS_ENST00000370616.2_Splice_Site_p.S395_splice|EYS_ENST00000370621.3_Splice_Site_p.S395_splice|EYS_ENST00000342421.5_Splice_Site_p.S395_splice|EYS_ENST00000393380.2_Splice_Site_p.S395_splice NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 395 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTAATTATACCTGCAAGGATA 0.274000 3 18 0 0 0.004672 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101571804 101571804 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:101571804A>G ENST00000326172.5 + 4 650 c.535A>G c.(535-537)Agg>Ggg p.R179G NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R79G|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R179G NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TGCTTGCAAAAGGCCAGCTCT 0.423000 15 69 0 0 0.002450 0 0 TPGS2 25941 broad.mit.edu 37 18 34385371 34385371 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr18:34385371G>A ENST00000334295.4 - 4 775 c.348C>T c.(346-348)ccC>ccT p.P116P TPGS2_ENST00000587129.1_Silent_p.P116P|TPGS2_ENST00000590842.1_Silent_p.P116P|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000589049.1_Silent_p.P116P|TPGS2_ENST00000383056.3_Intron NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 116 cytoplasm|microtubule CTGCCAGAGTGGGTGCATTAG 0.493000 41 66 0 0 0.002522 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40269028 40269028 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:40269028C>G ENST00000263791.5 + 12 2275 c.2232C>G c.(2230-2232)gtC>gtG p.V744V EIF2AK4_ENST00000382727.2_Silent_p.V744V NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 744 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ACGGTGGCGTCTTCTCCCAGT 0.607000 9 64 0 0 0.008291 0 0 AP4E1 23431 broad.mit.edu 37 15 51250970 51250970 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:51250970C>T ENST00000261842.5 + 14 1936 c.1830C>T c.(1828-1830)gaC>gaT p.D610D AP4E1_ENST00000560508.1_Silent_p.D535D NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 610 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TTCCAGTTGACAGGAGTTGTG 0.348000 11 49 0 0 0.000978 0 0 RFC3 5983 broad.mit.edu 37 13 34404941 34404941 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:34404941G>T ENST00000380071.3 + 6 789 c.659G>T c.(658-660)tGt>tTt p.C220F RFC3_ENST00000434425.1_Missense_Mutation_p.C220F NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 220 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GAGAAGTCTTGTAGAAATCTC 0.428000 9 49 6.40141e-05 7.64934e-05 0.000978 1 0 FOXO4 4303 broad.mit.edu 37 X 70321243 70321243 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:70321243C>A ENST00000374259.3 + 2 1495 c.1163C>A c.(1162-1164)cCc>cAc p.P388H FOXO4_ENST00000341558.3_Missense_Mutation_p.P333H NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 388 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) CAGGTAGATCCCATTCTGTCC 0.637000 23 67 1.10513e-12 1.6896e-12 0.002299 1 0 DKC1 1736 broad.mit.edu 37 X 153993755 153993755 + Nonsense_Mutation SNP G G T rs121912302 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:153993755G>T ENST00000369550.5 + 3 331 c.121G>T c.(121-123)Gaa>Taa p.E41* NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 41 E -> K (in XDKC; dbSNP:rs121912302). cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TATCAAACCTGAATCCAAAGT 0.388000 Congenital Dyskeratosis 62 189 6.25564e-26 1.13458e-25 0.003610 1 0 RBM10 8241 broad.mit.edu 37 X 47045727 47045727 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:47045727G>T ENST00000377604.3 + 23 3350 c.2608G>T c.(2608-2610)Ggc>Tgc p.G870C RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.G793C|RBM10_ENST00000329236.7_Missense_Mutation_p.G792C NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 870 G-patch. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GCAGGCCATGGGCTGGAAAGA 0.637000 6 7 2.0095e-06 2.52906e-06 0.001984 1 0 IGF1R 3480 broad.mit.edu 37 15 99251273 99251273 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:99251273G>A ENST00000268035.6 + 2 1188 c.577G>A c.(577-579)Gag>Aag p.E193K IGF1R_ENST00000558762.1_Missense_Mutation_p.E193K NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 193 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GCCGATGTGTGAGAAGACCAC 0.517000 5 63 0 0 0.001984 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005196 102005196 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:102005196G>T ENST00000372735.1 + 4 1858 c.1273G>T c.(1273-1275)Gga>Tga p.G425* BHLHB9_ENST00000361229.4_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000457056.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000448867.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000447531.1_Nonsense_Mutation_p.G425* Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 425 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACAGCAATCTGGATTAAAGAT 0.383000 21 78 1.2644e-06 1.60659e-06 0.001523 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781554 128781554 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:128781554G>T ENST00000529694.1 + 2 762 c.386G>T c.(385-387)tGt>tTt p.C129F KCNJ5_ENST00000533599.1_Missense_Mutation_p.C129F|KCNJ5_ENST00000338350.4_Missense_Mutation_p.C129F NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 129 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) TGGATTCCTTGTGTTGAAAAC 0.502000 42 82 1.52319e-26 2.77782e-26 0.008740 1 0 OR4A16 81327 broad.mit.edu 37 11 55111360 55111360 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:55111360G>A ENST00000314721.2 + 1 734 c.684G>A c.(682-684)caG>caA p.Q228Q NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CTTACAGTCAGGAAGAGAGGC 0.428000 19 104 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179435842 179435842 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:179435842G>A ENST00000589042.1 - 326 75241 c.75017C>T c.(75016-75018)cCa>cTa p.P25006L TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22438L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16066L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23365L|TTN_ENST00000342175.6_Missense_Mutation_p.P16133L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15941L|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23365 Ig-like 123. 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) TGGATCACATGGGTCACGAGC 0.468000 8 165 0 0 0.003080 0 0 GPX5 2880 broad.mit.edu 37 6 28497230 28497230 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:28497230G>T ENST00000412168.2 + 2 179 c.90G>T c.(88-90)atG>atT p.M30I GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.M30I NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 30 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TCTTCCAGATGGATTGCCACA 0.368000 29 40 3.86903e-22 6.75804e-22 0.002836 1 0 APLNR 187 broad.mit.edu 37 11 57004438 57004438 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:57004438T>A ENST00000606794.1 - 1 237 c.41A>T c.(40-42)gAc>gTc p.D14V NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 14 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AGACTGGTTGTCTGCCCCATA 0.582000 27 50 0 0 0.006320 0 0 GPR25 2848 broad.mit.edu 37 1 200843050 200843050 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:200843050G>T ENST00000304244.2 + 1 968 c.885G>T c.(883-885)ctG>ctT p.L295L NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 295 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 CCACCTGCCTGGCCTTCGTCA 0.746000 28 60 8.4185e-14 1.33327e-13 0.002445 1 0 TRPC4 7223 broad.mit.edu 37 13 38320488 38320488 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:38320488C>A ENST00000379705.3 - 3 1340 c.483G>T c.(481-483)ttG>ttT p.L161F TRPC4_ENST00000447043.1_Missense_Mutation_p.L161F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L161F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.L161F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L161F|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.L161F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L161F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 161 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTTTCTGAACCAAGAGTTTTA 0.463000 36 112 3.78316e-11 5.56545e-11 0.006230 1 0 TTN 7273 broad.mit.edu 37 2 179396333 179396333 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:179396333G>T ENST00000589042.1 - 358 105233 c.105009C>A c.(105007-105009)gaC>gaA p.D35003E TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32435E|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26063E|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33362E|TTN_ENST00000342175.6_Missense_Mutation_p.D26130E|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D25938E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33362 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) CAGTATGACAGTCCAGAATTT 0.488000 27 45 1.39806e-14 2.25186e-14 0.008361 1 0 ATP13A4 84239 broad.mit.edu 37 3 193176992 193176992 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:193176992C>A ENST00000342695.4 - 14 1874 c.1552G>T c.(1552-1554)Ggc>Tgc p.G518C ATP13A4_ENST00000392443.3_Missense_Mutation_p.G499C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G518C NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 518 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AAAGCCTGGCCTGAGGCAAAG 0.532000 11 66 7.03913e-09 9.81032e-09 0.001368 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 8 8.12818e-05 9.6778e-05 0.001984 1 0 TMEM140 55281 broad.mit.edu 37 7 134849484 134849484 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:134849484C>A ENST00000275767.2 + 2 514 c.291C>A c.(289-291)gcC>gcA p.A97A C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 97 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 CCCTCTTTGCCCCCCAGCCTC 0.677000 16 54 1.52009e-12 2.31333e-12 0.003163 1 0 SLC9A7 84679 broad.mit.edu 37 X 46618330 46618330 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:46618330C>A ENST00000328306.4 - 1 160 c.135G>T c.(133-135)ggG>ggT p.G45G NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 45 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 CCGCCGCCGCCCCAGAGGAGG 0.736000 10 13 9.31168e-06 1.14579e-05 0.001855 1 0 MUC5AC 4586 broad.mit.edu 37 11 1151661 1151661 + Nonsense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:1151661G>A ENST00000356191.2 + 1 35 c.35G>A c.(34-36)tGg>tAg p.W12* mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GCCCTGCTCTGGGCCCTGGCT 0.677000 3 6 0 0 0.000248 0 0 TMEM145 284339 broad.mit.edu 37 19 42822023 42822023 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:42822023T>A ENST00000598766.1 + 12 1135 c.1135T>A c.(1135-1137)Tat>Aat p.Y379N TMEM145_ENST00000301204.3_Missense_Mutation_p.Y355N Q8NBT3 TM145_HUMAN transmembrane protein 145 355 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CTTTGCTGCCTATACCCTCTG 0.582000 30 65 0 0 0.003271 0 0 CRTAC1 55118 broad.mit.edu 37 10 99771079 99771079 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:99771079G>A ENST00000370597.3 - 2 395 c.40C>T c.(40-42)Ccg>Tcg p.P14S CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14S|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14S NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 14 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AGCAGGAACGGTAACATCCTG 0.512000 16 89 0 0 0.004007 0 0 MRPL2 51069 broad.mit.edu 37 6 43025848 43025848 + Missense_Mutation SNP T T A rs141171843 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:43025848T>A ENST00000388752.3 - 2 644 c.220A>T c.(220-222)Att>Ttt p.I74F MRPL2_ENST00000230413.5_Missense_Mutation_p.I74F|MRPL2_ENST00000468957.1_Missense_Mutation_p.I74F|MRPL2_ENST00000489623.1_Missense_Mutation_p.I74F|MRPL2_ENST00000487429.1_3'UTR NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 74 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) ACTGGTGTAATGGTGTACTTG 0.512000 51 102 0 0 0.003610 0 0 MYO9B 4650 broad.mit.edu 37 19 17311621 17311621 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:17311621G>T ENST00000595618.1 + 26 4698 c.4546G>T c.(4546-4548)Gag>Tag p.E1516* MYO9B_ENST00000594824.1_Nonsense_Mutation_p.E1516*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E1516* NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1516 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GTACCTGGACGAGTTCCTGCT 0.557000 13 83 1.5842e-08 2.18033e-08 0.001855 1 0 TCEB3 6924 broad.mit.edu 37 1 24078311 24078311 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:24078311T>A ENST00000418390.2 + 4 1565 c.1294T>A c.(1294-1296)Tct>Act p.S432T NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 432 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GCCAACCATGTCTTTTGAATC 0.423000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 239 0 0 0.003271 0 0 UBBP4 23666 broad.mit.edu 37 17 21731494 21731494 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:21731494C>A ENST00000578713.1 + 2 573 c.569C>A c.(568-570)cCc>cAc p.P190H UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCATCCCCCCCGATCAGCAG 0.542000 18 45 1.99824e-07 2.61429e-07 0.004990 1 0 PAQR9 344838 broad.mit.edu 37 3 142681404 142681404 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:142681404G>A ENST00000340634.3 - 1 774 c.775C>T c.(775-777)Ctc>Ttc p.L259F NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 259 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 CAGCTCTCGAGCATAATGGGG 0.617000 26 66 0 0 0.007291 0 0 ZNF200 7752 broad.mit.edu 37 16 3274184 3274184 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:3274184T>A ENST00000431561.3 - 5 1508 c.896A>T c.(895-897)gAg>gTg p.E299V ZNF200_ENST00000414144.2_Missense_Mutation_p.E299V|ZNF200_ENST00000396868.3_Missense_Mutation_p.E298V|ZNF200_ENST00000396870.4_Missense_Mutation_p.E298V|ZNF200_ENST00000396871.4_Missense_Mutation_p.E298V|ZNF200_ENST00000575948.1_Missense_Mutation_p.E298V|AJ003147.9_ENST00000576468.1_RNA NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 ATGAATTCGCTCATGTTTATT 0.413000 26 82 0 0 0.004656 0 0 LTBP2 4053 broad.mit.edu 37 14 75022254 75022254 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:75022254C>G ENST00000261978.4 - 4 1359 c.973G>C c.(973-975)Gat>Cat p.D325H CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.D325H NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 325 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) TGGGTGCCATCTCTCTGCTCA 0.632000 29 44 0 0 0.002096 0 0 POLA1 5422 broad.mit.edu 37 X 24745975 24745975 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:24745975G>T ENST00000379068.3 + 15 1651 c.1608G>T c.(1606-1608)aaG>aaT p.K536N POLA1_ENST00000379059.3_Missense_Mutation_p.K530N|POLA1_ENST00000493342.1_3'UTR P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 530 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|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 alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) ATGTAATTAAGGATGTCAGTC 0.408000 11 32 1.61879e-10 2.35009e-10 0.001368 1 0 GRM4 2914 broad.mit.edu 37 6 34008522 34008522 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:34008522C>T ENST00000374181.3 - 6 1341 c.1172G>A c.(1171-1173)cGt>cAt p.R391H GRM4_ENST00000544773.1_Missense_Mutation_p.R222H|GRM4_ENST00000374177.3_Missense_Mutation_p.R275H|GRM4_ENST00000545715.1_Missense_Mutation_p.R83H|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000535756.1_Missense_Mutation_p.R258H|GRM4_ENST00000538487.1_Missense_Mutation_p.R391H NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 391 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) AATTCGCTCACGGTCTGCAAT 0.597000 26 36 0 0 0.008361 0 0 GRIN1 2902 broad.mit.edu 37 9 140036576 140036576 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:140036576C>G ENST00000371561.3 + 2 1467 c.370C>G c.(370-372)Cgc>Ggc p.R124G GRIN1_ENST00000371550.4_Missense_Mutation_p.R124G|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371553.3_Missense_Mutation_p.R124G|GRIN1_ENST00000371555.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371559.4_Missense_Mutation_p.R124G|GRIN1_ENST00000315048.3_Missense_Mutation_p.R124G|GRIN1_ENST00000350902.5_Missense_Mutation_p.R124G|GRIN1_ENST00000371560.3_Missense_Mutation_p.R124G NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 124 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCTGACCACCCGCATGTCCAT 0.652000 37 81 0 0 0.004878 0 0 MYH9 4627 broad.mit.edu 37 22 36689452 36689452 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:36689452A>T ENST00000216181.5 - 30 4248 c.4018T>A c.(4018-4020)Tcc>Acc p.S1340T NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1340 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCCCGGAAGGAATTCTTCTCG 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 28 65 0 0 0.008361 0 0 DNAH3 55567 broad.mit.edu 37 16 21033313 21033313 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:21033313C>A ENST00000261383.3 - 40 5755 c.5756G>T c.(5755-5757)aGa>aTa p.R1919I DNAH3_ENST00000415178.1_Intron NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1919 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) AGAGTACAGTCTCATCATTGA 0.453000 19 38 8.10497e-08 1.08175e-07 0.001523 1 0 OR8H3 390152 broad.mit.edu 37 11 55890472 55890472 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:55890472G>T ENST00000313472.3 + 1 624 c.624G>T c.(622-624)atG>atT p.M208I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CCACCCTGATGGTGTCCCTTA 0.423000 25 119 4.4004e-07 5.66744e-07 0.003330 1 0 GAA 2548 broad.mit.edu 37 17 78086452 78086452 + Silent SNP C C T rs61736896 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:78086452C>T ENST00000302262.3 + 13 2049 c.1830C>T c.(1828-1830)gcC>gcT p.A610A GAA_ENST00000390015.3_Silent_p.A610A NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 610 Missing (in GSD2). cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GCCGATACGCCGGCCACTGGA 0.687000 3 32 0 0 0.000248 0 0 GRIN1 2902 broad.mit.edu 37 9 140036578 140036578 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:140036578C>G ENST00000371561.3 + 2 1469 c.372C>G c.(370-372)cgC>cgG p.R124R GRIN1_ENST00000371550.4_Silent_p.R124R|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Silent_p.R124R|GRIN1_ENST00000371553.3_Silent_p.R124R|GRIN1_ENST00000371555.4_Silent_p.R124R|GRIN1_ENST00000371559.4_Silent_p.R124R|GRIN1_ENST00000315048.3_Silent_p.R124R|GRIN1_ENST00000350902.5_Silent_p.R124R|GRIN1_ENST00000371560.3_Silent_p.R124R NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 124 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGACCACCCGCATGTCCATCT 0.647000 35 76 0 0 0.003755 0 0 LILRA4 23547 broad.mit.edu 37 19 54849379 54849379 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:54849379C>G ENST00000291759.4 - 4 539 c.483G>C c.(481-483)agG>agC p.R161S NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 161 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TCCAGGAGAGCCTGTGGTCTC 0.587000 23 25 0 0 0.002780 0 0 ESPNL 339768 broad.mit.edu 37 2 239016463 239016463 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:239016463G>T ENST00000343063.3 + 4 967 c.704G>T c.(703-705)cGg>cTg p.R235L ESPNL_ENST00000409169.1_Missense_Mutation_p.R235L NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 235 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CTCACGGCACGGGACAATGAG 0.652000 4 7 1.23904e-05 1.51897e-05 0.000602 1 0 SEMA5B 54437 broad.mit.edu 37 3 122631876 122631876 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:122631876T>G ENST00000195173.4 - 18 2839 c.2536A>C c.(2536-2538)Acc>Ccc p.T846P SEMA5B_ENST00000357599.3_Missense_Mutation_p.T847P|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T901P Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 847 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TGCGGGGAGGTGCTCCCGCTG 0.771000 6 13 0 0 0.001168 0 0 VSX2 338917 broad.mit.edu 37 14 74726376 74726376 + Silent SNP G G T rs150792267 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:74726376G>T ENST00000261980.2 + 4 741 c.651G>T c.(649-651)gcG>gcT p.A217A NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 217 CVC. multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) GTGTCATGGCGGAGTATGGGC 0.627000 17 30 2.94398e-08 4.01012e-08 0.007413 1 0 OR2D2 120776 broad.mit.edu 37 11 6913062 6913062 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:6913062T>A ENST00000299459.2 - 1 768 c.670A>T c.(670-672)Act>Tct p.T224S NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTGACCACAGTTACTATGATA 0.438000 18 26 0 0 0.007413 0 0 SLC6A13 6540 broad.mit.edu 37 12 333641 333641 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:333641C>A ENST00000343164.4 - 10 1151 c.1099G>T c.(1099-1101)Gtg>Ttg p.V367L SLC6A13_ENST00000445055.2_Missense_Mutation_p.V275L NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 367 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GGCAGCATCACCACAGCCCGC 0.622000 10 55 3.86212e-05 4.64859e-05 0.008291 1 0 MUS81 80198 broad.mit.edu 37 11 65631996 65631996 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:65631996G>A ENST00000308110.4 + 11 1437 c.1088G>A c.(1087-1089)cGc>cAc p.R363H MUS81_ENST00000533035.1_Missense_Mutation_p.R288H NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 363 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) GGTCTGGAGCGCCGGGTATAC 0.592000 Homologous recombination 6 44 0 0 0.001168 0 0 TMEM63B 55362 broad.mit.edu 37 6 44119703 44119703 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:44119703C>G ENST00000259746.9 + 19 1977 c.1794C>G c.(1792-1794)ctC>ctG p.L598L TMEM63B_ENST00000323267.6_Silent_p.L598L Q5T3F8 TM63B_HUMAN transmembrane protein 63B 598 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TGATCCGGCTCTGCCTGGCGC 0.667000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 28 0 0 0.000602 0 0 HERC1 8925 broad.mit.edu 37 15 63978575 63978575 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:63978575C>A ENST00000443617.2 - 34 6295 c.6208G>T c.(6208-6210)Ggg>Tgg p.G2070W RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2070 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGATAGCACCCAGAAGTTACT 0.398000 22 147 7.87624e-14 1.25038e-13 0.002780 1 0 FTMT 94033 broad.mit.edu 37 5 121188072 121188072 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:121188072C>A ENST00000321339.1 + 1 423 c.414C>A c.(412-414)ggC>ggA p.G138G NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 138 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) AGCGAGGAGGCCGGATCCGCC 0.582000 26 29 4.59853e-10 6.61788e-10 0.005443 1 0 OR2L8 391190 broad.mit.edu 37 1 248112950 248112950 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:248112950T>C ENST00000357191.3 + 1 791 c.791T>C c.(790-792)cTg>cCg p.L264P OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCAAGATCCCTGCGATCTCCA 0.488000 5 126 0 0 0.000602 0 0 SHROOM3 57619 broad.mit.edu 37 4 77663049 77663049 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:77663049G>T ENST00000296043.6 + 5 4676 c.3723G>T c.(3721-3723)agG>agT p.R1241S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1241 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGAGGTCCAGGTCATCTCCCG 0.652000 6 21 1.06961e-07 1.41901e-07 0.003080 1 0 PCDHA6 56142 broad.mit.edu 37 5 140208796 140208796 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:140208796G>T ENST00000529310.1 + 1 1234 c.1120G>T c.(1120-1122)Gtg>Ttg p.V374L PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V374L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAATTAGCGTGAACGACCT 0.488000 55 68 7.07328e-35 1.31902e-34 0.003610 1 0 NEMF 9147 broad.mit.edu 37 14 50280705 50280705 + Splice_Site SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:50280705C>A ENST00000298310.5 - 18 2194 c.e18+1 NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000545773.1_Splice_Site|NEMF_ENST00000546046.1_Intron O60524 NEMF_HUMAN nuclear export mediator factor cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 AAATATATTACCTGTTGGATT 0.318000 13 18 0.000151284 0.00017884 0.001855 1 0 GRIK1 2897 broad.mit.edu 37 21 30934017 30934017 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:30934017G>T ENST00000399914.1 - 14 2760 c.2239C>A c.(2239-2241)Cag>Aag p.Q747K GRIK1_ENST00000399913.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q762K|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q747K|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q764K|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q762K|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q764K|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q747K P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 762 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CAGTTTCTCTGCGTCACATAC 0.532000 15 76 4.7546e-09 6.66853e-09 0.004007 1 0 GDF10 2662 broad.mit.edu 37 10 48429282 48429282 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:48429282G>T ENST00000224605.2 - 2 869 c.604C>A c.(604-606)Cag>Aag p.Q202K NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 202 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 TCCTTGGCCTGCCACAGGCCG 0.721000 4 23 0.00024832 0.000291986 0.000248 1 0 DGCR2 9993 broad.mit.edu 37 22 19044598 19044598 + Nonsense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:19044598G>A ENST00000263196.7 - 6 950 c.703C>T c.(703-705)Cag>Tag p.Q235* DGCR2_ENST00000537045.1_Nonsense_Mutation_p.Q194*|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000473832.1_5'UTR NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 235 C-type lectin. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CACTGAAGCTGGGCACAGAAC 0.567000 5 11 0 0 0.000602 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389380 117389380 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:117389380G>A ENST00000321322.6 - 7 1492 c.1491C>T c.(1489-1491)ccC>ccT p.P497P DSCAML1_ENST00000527706.1_Silent_p.P227P NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 437 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGTGACCGTGGGGGGCGGGG 0.662000 10 27 0 0 0.008291 0 0 SNX31 169166 broad.mit.edu 37 8 101661539 101661539 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:101661539C>T ENST00000311812.2 - 2 254 c.104G>A c.(103-105)aGg>aAg p.R35K NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 35 PX. cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GTAGCGCACCCTGCAGAAGAG 0.607000 9 30 0 0 0.004482 0 0 PNCK 139728 broad.mit.edu 37 X 152937657 152937657 + Splice_Site SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:152937657T>C ENST00000393831.2 - 4 635 c.e4-2 PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000370145.4_Splice_Site|PNCK_ENST00000340888.3_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000475172.1_Splice_Site NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGACTGATCCTGCAATGGCAA 0.617000 4 41 0 0 0.000248 0 0 COQ5 84274 broad.mit.edu 37 12 120966864 120966864 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:120966864G>A ENST00000288532.6 - 1 121 c.81C>T c.(79-81)ctC>ctT p.L27L COQ5_ENST00000445328.2_Silent_p.L27L NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 27 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TACGAAGCCCGAGGAGCTGGC 0.637000 9 71 0 0 0.008291 0 0 RFX6 222546 broad.mit.edu 37 6 117232175 117232175 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:117232175T>A ENST00000332958.2 + 7 766 c.750T>A c.(748-750)ctT>ctA p.L250L RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 250 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTCAACACCTTGTATACCAAG 0.373000 32 50 0 0 0.004878 0 0 NALCN 259232 broad.mit.edu 37 13 101736089 101736089 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:101736089G>C ENST00000251127.6 - 31 3637 c.3556C>G c.(3556-3558)Cag>Gag p.Q1186E NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1186 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAAGAGGCTGTGCGATCTTC 0.498000 14 41 0 0 0.002450 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113660446 113660446 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:113660446C>A ENST00000393544.2 + 0 494 GGATCCAGCACCACCTGTAGA 0.572000 5 10 0.00116845 0.00133594 0.001168 1 0 SEMA5A 9037 broad.mit.edu 37 5 9122921 9122921 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:9122921A>T ENST00000382496.5 - 14 2293 c.1628T>A c.(1627-1629)tTt>tAt p.F543Y NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 543 TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CCACACACCAAAGTGCCCATC 0.547000 19 95 0 0 0.007413 0 0 COL6A1 1291 broad.mit.edu 37 21 47422543 47422543 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:47422543G>T ENST00000361866.3 + 33 2467 c.2353G>T c.(2353-2355)Ggc>Tgc p.G785C COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 785 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GGGCCGGCCCGGCCTCTCGCT 0.597000 28 76 6.53348e-20 1.13224e-19 0.003755 1 0 C2CD2L 9854 broad.mit.edu 37 11 118984983 118984983 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:118984983C>T ENST00000336702.3 + 13 2179 c.1820C>T c.(1819-1821)tCg>tTg p.S607L C2CD2L_ENST00000528586.1_Missense_Mutation_p.S354L NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 606 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 ACAACCCGTTCGGATATTTCT 0.577000 7 179 0 0 0.001984 0 0 SPAG1 6674 broad.mit.edu 37 8 101243392 101243392 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:101243392A>G ENST00000388798.2 + 15 2055 c.1864A>G c.(1864-1866)Aca>Gca p.T622A SPAG1_ENST00000251809.3_Missense_Mutation_p.T622A|SPAG1_ENST00000523302.1_3'UTR NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 622 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AGATGAAAAAACATTTAAAGC 0.303000 19 47 0 0 0.008871 0 0 ROBO1 6091 broad.mit.edu 37 3 78766455 78766455 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:78766455C>A ENST00000436010.2 - 5 1767 c.770G>T c.(769-771)aGg>aTg p.R257M ROBO1_ENST00000495273.1_Missense_Mutation_p.R257M|ROBO1_ENST00000467549.1_Missense_Mutation_p.R257M|ROBO1_ENST00000464233.1_Missense_Mutation_p.R296M Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 296 Ig-like C2-type 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ATCATCTTTCCTCCATCGTAC 0.443000 58 134 1.34159e-35 2.51596e-35 0.003610 1 0 RC3H2 54542 broad.mit.edu 37 9 125620205 125620205 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:125620205C>A ENST00000373670.1 - 12 3051 c.2451G>T c.(2449-2451)gcG>gcT p.A817A RC3H2_ENST00000357244.2_Silent_p.A817A|RC3H2_ENST00000423239.2_Silent_p.A817A Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 817 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TTCTTACATCCGCACGAAAGT 0.418000 18 34 8.34094e-07 1.06391e-06 0.008871 1 0 AGBL1 123624 broad.mit.edu 37 15 86807859 86807859 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:86807859C>A ENST00000441037.2 + 10 1414 c.1319C>A c.(1318-1320)aCt>aAt p.T440N AGBL1_ENST00000421325.2_Missense_Mutation_p.T440N|AGBL1_ENST00000389298.3_Missense_Mutation_p.T171N NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 440 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TCTAATTCCACTAGGACTAGA 0.458000 21 101 6.44725e-10 9.23827e-10 0.002299 1 0 RGAG1 57529 broad.mit.edu 37 X 109695043 109695043 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:109695043G>T ENST00000465301.2 + 3 1444 c.1198G>T c.(1198-1200)Gca>Tca p.A400S RGAG1_ENST00000540313.1_Missense_Mutation_p.A400S NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 400 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GGTGATGTCTGCACCACCAGT 0.512000 126 428 2.77834e-61 5.3312e-61 0.003610 1 0 AKAP1 8165 broad.mit.edu 37 17 55183651 55183651 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:55183651C>G ENST00000337714.3 + 2 1059 c.826C>G c.(826-828)Cac>Gac p.H276D AKAP1_ENST00000572557.1_Missense_Mutation_p.H276D|AKAP1_ENST00000539273.1_Missense_Mutation_p.H276D|AKAP1_ENST00000571629.1_Missense_Mutation_p.H276D|AKAP1_ENST00000314126.3_Missense_Mutation_p.H276D NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 276 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CGAGTCGGCTCACACAGAGCT 0.582000 22 97 0 0 0.002780 0 0 CRY2 1408 broad.mit.edu 37 11 45880390 45880390 + Missense_Mutation SNP A A T rs145426016 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:45880390A>T ENST00000443527.2 + 3 518 c.496A>T c.(496-498)Acg>Tcg p.T166S CRY2_ENST00000417225.2_Missense_Mutation_p.T84S|CRY2_ENST00000473199.1_3'UTR NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 145 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 GGAAGTAGTGACGGAGAATTC 0.507000 9 33 0 0 0.001368 0 0 SPG20 23111 broad.mit.edu 37 13 36909680 36909680 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:36909680C>A ENST00000451493.1 - 2 505 c.288G>T c.(286-288)gaG>gaT p.E96D SPG20_ENST00000355182.4_Missense_Mutation_p.E96D|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.E96D|SPG20_ENST00000438666.2_Missense_Mutation_p.E96D NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 96 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CAAGACCCTTCTCTAGAATTT 0.448000 23 72 5.35047e-06 6.64543e-06 0.003330 1 0 CDX4 1046 broad.mit.edu 37 X 72667506 72667506 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:72667506G>T ENST00000373514.2 + 1 417 c.417G>T c.(415-417)acG>acT p.T139T NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 139 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) TTGTCCCGACGGACGCAGGCG 0.657000 15 29 1.3612e-06 1.72298e-06 0.003163 1 0 CNTN1 1272 broad.mit.edu 37 12 41365289 41365289 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:41365289T>A ENST00000547849.1 + 16 2177 c.1858T>A c.(1858-1860)Tgt>Agt p.C620S CNTN1_ENST00000547702.1_Missense_Mutation_p.C620S|CNTN1_ENST00000360099.3_Missense_Mutation_p.C620S|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000551295.2_Intron NM_001256064.1 NP_001242993.1 Q12860 CNTN1_HUMAN contactin 1 0 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCTCCCCGTCTGTGCAAGCCT 0.418000 6 35 0 0 0.001168 0 0 AMBN 258 broad.mit.edu 37 4 71467241 71467241 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:71467241C>T ENST00000322937.6 + 6 504 c.401C>T c.(400-402)aCc>aTc p.T134I AMBN_ENST00000449493.2_Missense_Mutation_p.T119I NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 134 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel p.T134I(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) GCTGCAACCACCAACCAGGCC 0.547000 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 103 0 0 0.008740 0 0 LRP1B 53353 broad.mit.edu 37 2 141641553 141641553 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:141641553C>A ENST00000389484.3 - 25 4973 c.4002G>T c.(4000-4002)ctG>ctT p.L1334L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1334 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGAGTAGCCAGGCCATGCT 0.473000 TSP Lung(27;0.18) 33 105 2.20474e-14 3.53398e-14 0.003755 1 0 DNAH7 56171 broad.mit.edu 37 2 196801370 196801370 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:196801370G>A ENST00000312428.6 - 20 3325 c.3225C>T c.(3223-3225)tcC>tcT p.S1075S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1075 Stem (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 GTTCATCATTGGACAAAAAAA 0.313000 18 52 0 0 0.008871 0 0 TRPM1 4308 broad.mit.edu 37 15 31362303 31362303 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:31362303G>A ENST00000542188.1 - 3 574 c.261C>T c.(259-261)acC>acT p.T87T TRPM1_ENST00000559179.1_Silent_p.T48T|TRPM1_ENST00000256552.6_Silent_p.T70T|TRPM1_ENST00000397795.2_Silent_p.T48T NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 48 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGTAGCTCTGGGTGTGCTTGG 0.493000 98 334 0 0 0.003610 0 0 CHST1 8534 broad.mit.edu 37 11 45672284 45672284 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:45672284G>T ENST00000308064.2 - 4 860 c.190C>A c.(190-192)Ctc>Atc p.L64I NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 64 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCCAGGATGAGGATGTGGGTC 0.647000 15 63 0.00316338 0.00359204 0.003163 1 0 C17orf70 80233 broad.mit.edu 37 17 79514713 79514713 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:79514713G>A ENST00000425898.2 - 1 811 c.342C>T c.(340-342)gtC>gtT p.V114V C17orf70_ENST00000327787.8_Intron|C17orf70_ENST00000537152.1_Intron Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 465 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CTCTGCGAAGGACAGACATGA 0.592000 28 71 0 0 0.007291 0 0 DPYS 1807 broad.mit.edu 37 8 105405054 105405054 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:105405054T>A ENST00000351513.2 - 8 1533 c.1401A>T c.(1399-1401)ccA>ccT p.P467P DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 467 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) ATTCAGCAAATGGTTTTCGAG 0.488000 34 177 0 0 0.003271 0 0 CACHD1 57685 broad.mit.edu 37 1 65047888 65047888 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:65047888A>G ENST00000371073.2 + 3 311 c.311A>G c.(310-312)aAt>aGt p.N104S CACHD1_ENST00000290039.5_Missense_Mutation_p.N53S|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 104 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GATGTGGTCAATCGGAACAAG 0.443000 15 56 0 0 0.003163 0 0 KLHL6 89857 broad.mit.edu 37 3 183217574 183217574 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:183217574C>A ENST00000341319.3 - 4 986 c.951G>T c.(949-951)caG>caT p.Q317H NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 317 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ACACCTCAGACTGGAACTCAT 0.572000 10 19 1.58986e-06 2.00474e-06 0.008291 1 0 HYDIN 54768 broad.mit.edu 37 16 70986483 70986483 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:70986483G>T ENST00000393567.2 - 41 6522 c.6372C>A c.(6370-6372)gaC>gaA p.D2124E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2124 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGCCCAAGGTGTCAGTGCTCA 0.498000 11 33 3.86212e-05 4.64859e-05 0.008291 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236734 140236734 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:140236734C>G ENST00000307360.5 + 1 1101 c.1101C>G c.(1099-1101)gtC>gtG p.V367V PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.V367V|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCACCGTCATTGCCCTAA 0.507000 34 61 0 0 0.003271 0 0 RYR2 6262 broad.mit.edu 37 1 237982471 237982471 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:237982471A>G ENST00000366574.2 + 101 14886 c.14569A>G c.(14569-14571)Att>Gtt p.I4857V RYR2_ENST00000360064.6_Missense_Mutation_p.I4863V|RYR2_ENST00000542537.1_Missense_Mutation_p.I4841V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4857 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) TGTTATTGTCATTCTCTTGGC 0.408000 32 100 0 0 0.002836 0 0 CHID1 66005 broad.mit.edu 37 11 883186 883186 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:883186C>T ENST00000449825.1 - 10 1277 c.921G>A c.(919-921)gcG>gcA p.A307A CHID1_ENST00000429789.2_Silent_p.A276A|CHID1_ENST00000454838.2_Silent_p.A332A|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.A307A|CHID1_ENST00000528581.1_Silent_p.A332A|CHID1_ENST00000336845.5_Silent_p.A332A|CHID1_ENST00000323541.7_Silent_p.A337A|CHID1_ENST00000436108.2_Silent_p.A307A NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 307 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCTTGGAGGTCGCGTAGTCCA 0.632000 34 104 0 0 0.002445 0 0 TFAP2B 7021 broad.mit.edu 37 6 50786607 50786607 + Translation_Start_Site SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:50786607G>T ENST00000263046.4 + 1 169 c.3G>T c.(1-3)atG>atT p.M1I TFAP2B_ENST00000393655.3_Start_Codon_SNP_p.M1I Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 1 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TCACATGAATGCACTCACCTC 0.502000 4 34 5.9392e-07 7.63447e-07 0.001168 1 0 NWD1 284434 broad.mit.edu 37 19 16861059 16861059 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:16861059C>A ENST00000524140.2 + 6 2024 c.1606C>A c.(1606-1608)Ctg>Atg p.L536M NWD1_ENST00000549814.1_Missense_Mutation_p.L536M|NWD1_ENST00000552788.1_Missense_Mutation_p.L536M|NWD1_ENST00000523826.1_Missense_Mutation_p.L330M|NWD1_ENST00000379808.3_Missense_Mutation_p.L536M|NWD1_ENST00000339803.6_Missense_Mutation_p.L401M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 536 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCCAGGGCGGCTGAGGCTGGC 0.647000 11 45 6.40141e-05 7.64934e-05 0.000978 1 0 FKBP6 8468 broad.mit.edu 37 7 72744232 72744232 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:72744232C>A ENST00000252037.4 + 4 414 c.345C>A c.(343-345)aaC>aaA p.N115K FKBP6_ENST00000431982.2_Missense_Mutation_p.N110K|FKBP6_ENST00000413573.2_Missense_Mutation_p.N85K NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 115 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TCAAACCGAACTACGCCTATG 0.537000 52 34 1.81118e-26 3.29396e-26 0.003610 1 0 DEPTOR 64798 broad.mit.edu 37 8 121021282 121021282 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:121021282G>T ENST00000286234.5 + 8 1141 c.1011G>T c.(1009-1011)gcG>gcT p.A337A DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.A236A NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 337 PDZ. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 TTGGTGACGCGGTTGGCTGGG 0.542000 7 45 0.000274275 0.000319666 0.004482 1 0 PTPRG 5793 broad.mit.edu 37 3 61547990 61547990 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:61547990G>T ENST00000474889.1 + 1 406 c.29G>T c.(28-30)tGg>tTg p.W10L PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Missense_Mutation_p.W10L NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 10 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCGTGTTGGTGGATTTTGTTC 0.572000 33 68 6.90743e-12 1.03925e-11 0.003755 1 0 OR4D11 219986 broad.mit.edu 37 11 59271633 59271633 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:59271633T>A ENST00000313253.1 + 1 585 c.585T>A c.(583-585)ctT>ctA p.L195L NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTTTTGCTCTTGAGTTCTTGA 0.488000 59 139 0 0 0.003610 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945713 16945713 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:16945713C>A ENST00000412962.1 - 0 1806 CTGAGTGTGCCACTGCAGGTG 0.602000 21 133 6.21321e-17 1.04395e-16 0.002780 1 0 VSIG4 11326 broad.mit.edu 37 X 65242194 65242194 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:65242194C>T ENST00000374737.4 - 8 1219 c.1111G>A c.(1111-1113)Gcc>Acc p.A371T VSIG4_ENST00000412866.2_Missense_Mutation_p.A277T|VSIG4_ENST00000455586.2_3'UTR NM_001257403.1|NM_007268.2 NP_001244332.1|NP_009199.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 371 complement activation, alternative pathway integral to membrane protein binding p.A371T(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTGATCTGGGCGATGATCTGG 0.517000 25 45 0 0 0.003954 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126283519 126283519 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:126283519G>T ENST00000526727.1 + 9 1265 c.891G>T c.(889-891)gaG>gaT p.E297D ST3GAL4_ENST00000444328.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.E293D|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.E293D|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.E303D|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.E286D|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.E292D|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.E297D|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.E296D Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 297 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) ACTACTATGAGCAGATCACGC 0.597000 19 68 4.96729e-08 6.67007e-08 0.008871 1 0 DCSTAMP 81501 broad.mit.edu 37 8 105361787 105361787 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:105361787T>A ENST00000297581.2 + 2 1056 c.1007T>A c.(1006-1008)gTt>gAt p.V336D DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 336 osteoclast differentiation cell surface|integral to membrane|plasma membrane GGGTTTGAGGTTCACTTGAAA 0.488000 36 149 0 0 0.005524 0 0 FAM154A 158297 broad.mit.edu 37 9 18950780 18950780 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:18950780G>A ENST00000380534.4 - 2 473 c.194C>T c.(193-195)cCa>cTa p.P65L FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Missense_Mutation_p.P65L|FAM154A_ENST00000542071.1_5'UTR NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 65 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GCCTTCCATTGGTATAGGCCC 0.448000 17 107 0 0 0.008871 0 0 ZNF473 25888 broad.mit.edu 37 19 50545052 50545052 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:50545052G>A ENST00000595661.1 + 5 697 c.202G>A c.(202-204)Gga>Aga p.G68R ZNF473_ENST00000270617.3_Missense_Mutation_p.G68R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G68R|ZNF473_ENST00000601364.1_Missense_Mutation_p.G68R|ZNF473_ENST00000445728.3_Missense_Mutation_p.G56R Q8WTR7 ZN473_HUMAN zinc finger protein 473 68 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TCTGGCAGGAGGAAGCCCAGA 0.592000 17 108 0 0 0.006122 0 0 PER2 8864 broad.mit.edu 37 2 239161729 239161729 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:239161729G>T ENST00000254657.3 - 19 3214 c.2935C>A c.(2935-2937)Ccg>Acg p.P979T AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 979 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TGAAAGAGCGGTGGGGAGGCC 0.682000 23 43 1.96895e-08 2.69306e-08 0.002780 1 0 F7 2155 broad.mit.edu 37 13 113768231 113768231 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:113768231C>T ENST00000375581.3 + 5 422 c.387C>T c.(385-387)atC>atT p.I129I F7_ENST00000541084.1_Silent_p.I60I|F7_ENST00000346342.3_Silent_p.I107I|F7_ENST00000473085.1_3'UTR NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 129 EGF-like 1; calcium-binding (Potential). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity p.I129I(1) large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AGTCCTATATCTGCTTCTGCC 0.602000 5 89 0 0 0.001168 0 0 SCN3A 6328 broad.mit.edu 37 2 166019212 166019212 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:166019212C>T ENST00000360093.3 - 8 1312 c.821G>A c.(820-822)aGg>aAg p.R274K SCN3A_ENST00000283254.7_Missense_Mutation_p.R274K|SCN3A_ENST00000409101.3_Missense_Mutation_p.R274K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 274 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ACATTTATTCCTCAGATTGCC 0.443000 27 72 0 0 0.005443 0 0 KPNA4 3840 broad.mit.edu 37 3 160239566 160239566 + Splice_Site SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:160239566C>T ENST00000334256.4 - 11 1209 c.e11+1 NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AACAAACTTACCTGAACTTTA 0.348000 7 78 0 0 0.004482 0 0 GBX1 2636 broad.mit.edu 37 7 150846032 150846032 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:150846032C>G ENST00000297537.4 - 2 735 c.736G>C c.(736-738)Gag>Cag p.E246Q NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 246 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTGCCCCCTCCTCAGCTCCA 0.617000 31 158 0 0 0.002096 0 0 ANXA5 308 broad.mit.edu 37 4 122589682 122589682 + Splice_Site SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:122589682C>T ENST00000296511.5 - 13 1189 c.903_splice c.e13-1 p.G302_splice ANXA5_ENST00000515017.1_Splice_Site_p.G202_splice|ANXA5_ENST00000501272.2_Splice_Site_p.G242_splice NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 302 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 GATGTATCTCCCTGAAACCAA 0.423000 5 56 0 0 0.003080 0 0 PIGS 94005 broad.mit.edu 37 17 26890891 26890891 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:26890891G>T ENST00000308360.7 - 4 696 c.321C>A c.(319-321)gcC>gcA p.A107A PIGS_ENST00000543734.1_Silent_p.A46A|PIGS_ENST00000395346.2_Silent_p.A99A NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 107 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCCTCCGATAGGCCTTCTGGA 0.507000 38 108 8.01111e-26 1.449e-25 0.002522 1 0 MMP7 4316 broad.mit.edu 37 11 102395788 102395788 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:102395788C>A ENST00000260227.4 - 4 544 c.492G>T c.(490-492)ggG>ggT p.G164G NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 164 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) GGTAGGAGTCCCCATGAGCTG 0.443000 14 28 6.31663e-08 8.44769e-08 0.003163 1 0 CSMD2 114784 broad.mit.edu 37 1 34083126 34083126 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:34083126G>T ENST00000373381.4 - 38 6095 c.5919C>A c.(5917-5919)ttC>ttA p.F1973L CSMD2_ENST00000373377.1_Missense_Mutation_p.F72L|CSMD2_ENST00000373380.1_Missense_Mutation_p.F846L|CSMD2_ENST00000373388.2_Missense_Mutation_p.F72L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1933 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTCACACTGGAAAGACACCA 0.587000 8 37 5.18039e-06 6.45842e-06 0.003080 1 0 HM13 81502 broad.mit.edu 37 20 30155996 30155996 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr20:30155996C>T ENST00000335574.5 + 12 1274 c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C HM13_ENST00000492709.1_Intron|HM13_ENST00000340852.5_Intron|HM13_ENST00000398174.3_Missense_Mutation_p.R384C|HM13_ENST00000376127.3_Intron|HM13-AS1_ENST00000412178.1_RNA NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 0 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AGCTGGCCCTCGCCGCCGGCG 0.692000 6 35 0 0 0.001984 0 0 ITIH5 80760 broad.mit.edu 37 10 7618933 7618933 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:7618933G>A ENST00000256861.6 - 10 1539 c.1461C>T c.(1459-1461)cgC>cgT p.R487R ITIH5_ENST00000397145.2_Silent_p.R487R|ITIH5_ENST00000446830.2_Silent_p.R269R|ITIH5_ENST00000298441.6_Silent_p.R273R|ITIH5_ENST00000397146.2_Silent_p.R487R|ITIH5_ENST00000434980.1_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 487 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GATAATCGATGCGGATGTCAG 0.592000 8 45 0 0 0.003080 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054719 102054719 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:102054719A>G ENST00000318222.3 - 8 1900 c.1518T>C c.(1516-1518)ttT>ttC p.F506F PKD2L1_ENST00000353274.3_Silent_p.F506F|PKD2L1_ENST00000338519.3_Silent_p.F431F NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 506 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGAAAGTGCTAAAGTTTTCCA 0.542000 12 18 0 0 0.000978 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801933 24801933 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:24801933A>T ENST00000395799.3 + 6 2099 c.1970A>T c.(1969-1971)aAt>aTt p.N657I TNRC6A_ENST00000315183.7_Missense_Mutation_p.N657I NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 657 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTCAGACAAATGAGCAAAGC 0.468000 21 29 0 0 0.002299 0 0 SYN1 6853 broad.mit.edu 37 X 47466576 47466576 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:47466576T>A ENST00000295987.7 - 2 523 c.399A>T c.(397-399)aaA>aaT p.K133N SYN1_ENST00000340666.4_Missense_Mutation_p.K133N NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 133 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 CATGGATCTTTTTCCCTTTGA 0.428000 16 28 0 0 0.004990 0 0 KIAA0922 23240 broad.mit.edu 37 4 154525336 154525336 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:154525336G>A ENST00000409663.3 + 25 3221 c.3169G>A c.(3169-3171)Gaa>Aaa p.E1057K KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1058K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E974K NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1057 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GAATAAAGAAGAAAACACACT 0.378000 11 57 0 0 0.008291 0 0 LEF1 51176 broad.mit.edu 37 4 109084820 109084820 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:109084820G>T ENST00000379951.2 - 3 1506 c.318C>A c.(316-318)ccC>ccA p.P106P LEF1_ENST00000512172.1_Silent_p.P38P|LEF1_ENST00000510624.1_Silent_p.P38P|LEF1_ENST00000438313.2_Silent_p.P106P|LEF1_ENST00000265165.1_Silent_p.P106P NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 106 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) TCGAGTAGGAGGGTCCCTTGT 0.423000 10 38 2.74318e-10 3.97371e-10 0.006214 1 0 PXDNL 137902 broad.mit.edu 37 8 52387588 52387588 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:52387588G>T ENST00000356297.4 - 7 738 c.638C>A c.(637-639)cCc>cAc p.P213H PXDNL_ENST00000543296.1_Missense_Mutation_p.P213H NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 213 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GAGTCTCCTGGGATATTCGCA 0.498000 6 13 0.00116845 0.00133594 0.001168 1 0 CACNA1B 774 broad.mit.edu 37 9 140878624 140878624 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:140878624C>A ENST00000371372.1 + 13 1836 c.1691C>A c.(1690-1692)gCg>gAg p.A564E CACNA1B_ENST00000371355.4_Missense_Mutation_p.A565E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A565E|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A564E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A564E NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 564 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTGGTCTGGGCGGCCATCAAG 0.602000 5 5 0.00116845 0.00133594 0.001168 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178557085 178557085 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:178557085C>T ENST00000251582.7 - 16 2406 c.2305G>A c.(2305-2307)Gag>Aag p.E769K NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 769 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TTGCCTGTCTCCAGGTTCTTG 0.567000 12 29 0 0 0.001855 0 0 ZNF436-AS1 148898 broad.mit.edu 37 1 23695808 23695808 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:23695808C>G ENST00000335648.3 + 1 80 c.18C>G c.(16-18)gtC>gtG p.V6V ZNF436_ENST00000314011.4_Intron|C1orf213_ENST00000518821.1_Silent_p.V6V|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000454117.1_Silent_p.V6V|C1orf213_ENST00000437367.2_Silent_p.V6V kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) CAGTCCCTGTCCGGTTGAAGG 0.612000 5 53 0 0 0.001168 0 0 NALCN 259232 broad.mit.edu 37 13 101890140 101890140 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:101890140G>A ENST00000251127.6 - 12 1481 c.1400C>T c.(1399-1401)cCa>cTa p.P467L NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.P467L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 467 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATAAAGATCTGGGTATACATG 0.323000 16 228 0 0 0.004990 0 0 WDR45 11152 broad.mit.edu 37 X 48933220 48933220 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:48933220G>C ENST00000356463.3 - 9 1150 c.712C>G c.(712-714)Cct>Gct p.P238A WDR45_ENST00000322995.8_Missense_Mutation_p.P248A|WDR45_ENST00000396681.4_Missense_Mutation_p.P237A|WDR45_ENST00000376368.2_Missense_Mutation_p.P238A|WDR45_ENST00000553851.1_Missense_Mutation_p.P135A|WDR45_ENST00000473974.1_Missense_Mutation_p.P237A|WDR45_ENST00000485908.1_Missense_Mutation_p.P202A|WDR45_ENST00000376358.3_Missense_Mutation_p.P135A|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376372.3_Missense_Mutation_p.P237A NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 237 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 AGGGTGGCAGGGTCAGTGCCT 0.557000 17 40 0 0 0.008871 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123253683 123253683 + Nonsense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:123253683T>A ENST00000349780.4 - 13 1563 c.1384A>T c.(1384-1386)Aag>Tag p.K462* CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.K462* NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 462 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AGAAGACTCTTGTAACGATTT 0.343000 12 38 0 0 0.000978 0 0 BCORL1 63035 broad.mit.edu 37 X 129148822 129148822 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:129148822G>T ENST00000540052.1 + 3 2118 c.2074G>T c.(2074-2076)Gag>Tag p.E692* BCORL1_ENST00000218147.7_Nonsense_Mutation_p.E692*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.E692*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.E692* NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 692 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.E692K(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CATCTTTCCCGAGATCGTGAG 0.602000 34 68 4.11147e-13 6.34451e-13 0.003755 1 0 AMER1 139285 broad.mit.edu 37 X 63410715 63410715 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:63410715C>A ENST00000330258.3 - 2 2724 c.2452G>T c.(2452-2454)Ggg>Tgg p.G818W AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TTGCCTTCCCCATCCCGTTCC 0.507000 12 38 9.05144e-12 1.35567e-11 0.001855 1 0 RASA3 22821 broad.mit.edu 37 13 114780772 114780772 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:114780772C>T ENST00000334062.7 - 14 1439 c.1318G>A c.(1318-1320)Gcc>Acc p.A440T RASA3_ENST00000389544.4_Missense_Mutation_p.A408T NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 440 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TCAGTGATGGCGTGGAAGACG 0.647000 10 81 0 0 0.008291 0 0 ERCC6 2074 broad.mit.edu 37 10 50732561 50732561 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:50732561T>A ENST00000355832.5 - 5 993 c.915A>T c.(913-915)ccA>ccT p.P305P ERCC6-PGBD3_ENST00000515869.1_Silent_p.P305P|PGBD3_ENST00000603152.1_Silent_p.P305P|ERCC6-PGBD3_ENST00000447839.2_Silent_p.P305P NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 305 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCACTGGGGCTGGAGGCGTGA 0.423000 Direct reversal of damage;Nucleotide excision repair (NER) 33 103 0 0 0.002836 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970102 101970102 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:101970102C>A ENST00000543253.1 + 5 1224 c.305C>A c.(304-306)gCc>gAc p.A102D GPRASP2_ENST00000332262.5_Missense_Mutation_p.A102D|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A102D NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 AAAACCGATGCCAGGGCAGTA 0.577000 61 166 8.52622e-23 1.51323e-22 0.003610 1 0 BRINP3 339479 broad.mit.edu 37 1 190067356 190067356 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:190067356G>A ENST00000367462.3 - 8 2324 c.2093C>T c.(2092-2094)tCa>tTa p.S698L FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S596L NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 698 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAAAAGTGCTGAATCCTGGGA 0.468000 6 100 0 0 0.001984 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559770 44559770 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr18:44559770C>T ENST00000332567.4 - 1 2218 c.1866G>A c.(1864-1866)atG>atA p.M622I KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 622 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TATTCGTTGTCATTACTCTCA 0.502000 52 71 0 0 0.003610 0 0 NAP1L1 4673 broad.mit.edu 37 12 76444406 76444406 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:76444406C>G ENST00000261182.8 - 12 1450 c.964G>C c.(964-966)Gca>Cca p.A322P NAP1L1_ENST00000535020.2_Missense_Mutation_p.A322P|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A322P|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A254P|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A280P|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A322P|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A333P|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A281P|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A259P NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 322 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) TCGAAGTCTGCAGCAAGGATA 0.348000 17 24 0 0 0.004007 0 0 GSTA1 2938 broad.mit.edu 37 6 52657738 52657738 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:52657738G>T ENST00000334575.5 - 6 617 c.462C>A c.(460-462)agC>agA p.S154R GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 154 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TGTCAGCCCGGCTCAGCTTGT 0.517000 27 128 1.75199e-13 2.73541e-13 0.007291 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132041 91132041 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:91132041G>A ENST00000373094.1 + 2 1647 c.802G>A c.(802-804)Gtg>Atg p.V268M PCDH11X_ENST00000504220.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V268M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V268M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V268M NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 268 Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AGGCACTTCAGTGACACAGCT 0.428000 28 55 0 0 0.003610 0 0 LCP1 3936 broad.mit.edu 37 13 46716508 46716508 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:46716508G>A ENST00000398576.2 - 16 1809 c.1421C>T c.(1420-1422)tCc>tTc p.S474F LCP1_ENST00000323076.2_Missense_Mutation_p.S474F|LCP1_ENST00000435666.2_Missense_Mutation_p.S43F P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 474 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GCCAACCAGGGAGAACTTCGC 0.438000 T BCL6 NHL 21 47 0 0 0.002299 0 0 WSCD2 9671 broad.mit.edu 37 12 108634140 108634140 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:108634140C>A ENST00000332082.4 + 9 1982 c.1164C>A c.(1162-1164)gaC>gaA p.D388E WSCD2_ENST00000261400.3_Missense_Mutation_p.D388E|WSCD2_ENST00000549903.1_Missense_Mutation_p.D388E|WSCD2_ENST00000547525.1_Missense_Mutation_p.D388E Q2TBF2 WSCD2_HUMAN WSC domain containing 2 388 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GTGAGCGGGACCACTGGCGCA 0.622000 11 144 7.93312e-07 1.01385e-06 0.002450 1 0 CLOCK 9575 broad.mit.edu 37 4 56342213 56342213 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:56342213C>A ENST00000309964.4 - 6 515 c.265G>T c.(265-267)Gca>Tca p.A89S CLOCK_ENST00000381322.1_Missense_Mutation_p.A89S|CLOCK_ENST00000513440.1_Missense_Mutation_p.A89S NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 89 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TCTGACTGTGCAGTGATTTCT 0.378000 11 33 2.27111e-07 2.9596e-07 0.001368 1 0 SIRPB1 10326 broad.mit.edu 37 20 1559157 1559157 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr20:1559157G>T ENST00000381605.4 - 2 324 c.260C>A c.(259-261)cCa>cAa p.P87Q SIRPB1_ENST00000262929.5_Missense_Mutation_p.P86Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P87Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P87Q NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 87 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TGTTACCCGTGGGAAGTGGCC 0.507000 74 74 7.07328e-35 1.31902e-34 0.003610 1 0 ANK2 287 broad.mit.edu 37 4 114279870 114279870 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:114279870A>T ENST00000357077.4 + 38 10149 c.10096A>T c.(10096-10098)Acc>Tcc p.T3366S ANK2_ENST00000264366.6_Missense_Mutation_p.T3333S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3333 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGATCTAGACACCTCTGTCCA 0.463000 35 62 0 0 0.003271 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423683 107423683 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:107423683G>T ENST00000340010.5 - 9 1270 c.1086C>A c.(1084-1086)tcC>tcA p.S362S SLC26A3_ENST00000422236.2_Silent_p.S327S NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 362 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CGTATTTGAGGGAATAGACGC 0.423000 29 35 1.32181e-22 2.33343e-22 0.007291 1 0 C2orf78 388960 broad.mit.edu 37 2 74041004 74041004 + Nonsense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:74041004T>A ENST00000409561.1 + 2 619 c.498T>A c.(496-498)taT>taA p.Y166* NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 166 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCCAGTATTATAAAACTTCAG 0.443000 13 22 0 0 0.001855 0 0 ITGA4 3676 broad.mit.edu 37 2 182358123 182358123 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:182358123G>A ENST00000397033.2 + 11 1655 c.1225G>A c.(1225-1227)Ggg>Agg p.G409R NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 409 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CCGTGCAGATGGGATCTCGTC 0.373000 18 34 0 0 0.007413 0 0 EZH1 2145 broad.mit.edu 37 17 40858171 40858171 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:40858171T>C ENST00000428826.2 - 16 1814 c.1693A>G c.(1693-1695)Acc>Gcc p.T565A EZH1_ENST00000590078.1_Missense_Mutation_p.T495A|EZH1_ENST00000435174.1_Missense_Mutation_p.T426A|EZH1_ENST00000592743.1_Missense_Mutation_p.T565A|EZH1_ENST00000415827.2_Missense_Mutation_p.T556A|EZH1_ENST00000590783.1_Intron|EZH1_ENST00000585893.1_Missense_Mutation_p.T525A Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 565 Cys-rich. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TTGCACTGGGTCTTACAGCGA 0.517000 6 101 0 0 0.001984 0 0 CXorf22 170063 broad.mit.edu 37 X 35969947 35969947 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:35969947A>T ENST00000297866.5 + 6 979 c.913A>T c.(913-915)Att>Ttt p.I305F NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 305 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AAGAACAGATATTGCTTTAAA 0.284000 12 52 0 0 0.001368 0 0 ZNF264 9422 broad.mit.edu 37 19 57716786 57716786 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:57716786A>T ENST00000263095.6 + 3 596 c.182A>T c.(181-183)gAg>gTg p.E61V ZNF264_ENST00000536056.1_Missense_Mutation_p.E61V NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCCAAAGCTGAGCTGATCTGC 0.512000 7 21 0 0 0.001984 0 0 LTBP4 8425 broad.mit.edu 37 19 41105444 41105444 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:41105444T>A ENST00000308370.7 + 3 323 c.323T>A c.(322-324)cTc>cAc p.L108H LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L71H|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 108 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGTGTCCCTCAACTGGCAG 0.637000 18 95 0 0 0.001523 0 0 KPRP 448834 broad.mit.edu 37 1 152733235 152733235 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:152733235T>C ENST00000368773.1 + 2 1229 c.1171T>C c.(1171-1173)Tgt>Cgt p.C391R KPRP_ENST00000606109.1_Missense_Mutation_p.C391R NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 391 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTGACCAGTGTCCAGAGTC 0.642000 20 56 0 0 0.001523 0 0 CLEC16A 23274 broad.mit.edu 37 16 11118744 11118744 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:11118744G>C ENST00000409790.1 + 13 1733 c.1503G>C c.(1501-1503)gtG>gtC p.V501V CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.V483V NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 501 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCCTGTTCGTGCTCTGCCTCC 0.547000 9 10 0 0 0.006214 0 0 PDIA2 64714 broad.mit.edu 37 16 335128 335128 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:335128C>G ENST00000219406.6 + 5 741 c.723C>G c.(721-723)ggC>ggG p.G241G PDIA2_ENST00000404312.1_Silent_p.G238G|PDIA2_ENST00000462950.1_3'UTR NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 241 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) AGGAGCTTGGCCTGGACCTGG 0.662000 9 27 0 0 0.004482 0 0 GSTA5 221357 broad.mit.edu 37 6 52701069 52701069 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:52701069G>T ENST00000370989.1 - 4 395 c.237C>A c.(235-237)taC>taA p.Y79* GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Nonsense_Mutation_p.Y79* Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 79 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) CATAAAGGTTGTATTTGCTGG 0.433000 47 116 2.77807e-22 4.8782e-22 0.003214 1 0 ESPNL 339768 broad.mit.edu 37 2 239016588 239016588 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:239016588G>C ENST00000343063.3 + 4 1092 c.829G>C c.(829-831)Gac>Cac p.D277H ESPNL_ENST00000409169.1_Missense_Mutation_p.D277H NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 277 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCCCCTCCACGACGCAGCAGA 0.637000 11 27 0 0 0.001368 0 0 IL10RB 3588 broad.mit.edu 37 21 34660564 34660564 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:34660564G>C ENST00000290200.2 + 6 910 c.802G>C c.(802-804)Gag>Cag p.E268Q NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 GCACCTGAAAGAGGTAGGTAG 0.493000 15 57 0 0 0.004007 0 0 GP2 2813 broad.mit.edu 37 16 20335250 20335250 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:20335250C>A ENST00000302555.5 - 3 572 c.423G>T c.(421-423)tgG>tgT p.W141C GP2_ENST00000381362.4_Missense_Mutation_p.W141C|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 141 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGTTGCCACTCCAATGGGCAC 0.592000 24 66 5.35356e-11 7.84083e-11 0.002780 1 0 SLC5A1 6523 broad.mit.edu 37 22 32482216 32482216 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:32482216C>T ENST00000266088.4 + 10 1281 c.1031C>T c.(1030-1032)gCc>gTc p.A344V SLC5A1_ENST00000543737.1_Missense_Mutation_p.A217V NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 344 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GAAAAAATTGCCTGTGTCGTC 0.448000 28 105 0 0 0.004289 0 0 GORAB 92344 broad.mit.edu 37 1 170521193 170521193 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:170521193G>T ENST00000367763.3 + 5 795 c.775G>T c.(775-777)Gca>Tca p.A259S NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 259 Necessary for interaction with RCHY1. Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 GTACATTGCAGCAAAGCTAGA 0.418000 41 99 1.32136e-16 2.19783e-16 0.008740 1 0 TTC21B 79809 broad.mit.edu 37 2 166797562 166797562 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:166797562C>A ENST00000243344.7 - 6 822 c.685G>T c.(685-687)Gac>Tac p.D229Y AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 229 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 ACTGTCTGGTCCCAATCCTGC 0.388000 16 50 9.16793e-09 1.2697e-08 0.004990 1 0 MKRN3 7681 broad.mit.edu 37 15 23811369 23811369 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:23811369C>A ENST00000314520.3 + 1 916 c.440C>A c.(439-441)gCg>gAg p.A147E MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 147 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.A147V(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGCACGGCTGCGCACATCGAG 0.632000 7 29 5.18039e-06 6.45842e-06 0.003080 1 0 SPTB 6710 broad.mit.edu 37 14 65239306 65239306 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:65239306C>A ENST00000389722.3 - 25 5598 c.5545G>T c.(5545-5547)Ggt>Tgt p.G1849C SPTB_ENST00000556626.1_Missense_Mutation_p.G1849C|SPTB_ENST00000542895.1_Missense_Mutation_p.G1849C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1849C|SPTB_ENST00000389721.5_Missense_Mutation_p.G1849C NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1849 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ACCTGGACACCCAGCAGGTGG 0.667000 13 12 3.27435e-08 4.44185e-08 0.002450 1 0 IDS 3423 broad.mit.edu 37 X 148564645 148564645 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:148564645C>T ENST00000340855.6 - 9 1494 c.1285G>A c.(1285-1287)Gtt>Att p.V429I AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Missense_Mutation_p.V218I|IDS_ENST00000537071.1_Missense_Mutation_p.V32I NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 429 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CACAGCTCAACGTGAAATGAA 0.527000 52 90 0 0 0.003610 0 0 SLC6A14 11254 broad.mit.edu 37 X 115572134 115572134 + Splice_Site SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:115572134G>T ENST00000371900.4 + 3 303 c.214_splice c.e3-1 p.G72_splice NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 72 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CCTTTTTTAGGCGCCTTCTTG 0.403000 90 316 1.15966e-41 2.19341e-41 0.003610 1 0 TFIP11 24144 broad.mit.edu 37 22 26895444 26895444 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:26895444C>T ENST00000407690.1 - 9 1238 c.955G>A c.(955-957)Gag>Aag p.E319K TFIP11_ENST00000407148.1_Missense_Mutation_p.E319K|TFIP11_ENST00000407431.1_Missense_Mutation_p.E319K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E319K NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 319 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 TGCTCCAGCTCGGGCAGCGCG 0.612000 16 90 0 0 0.004007 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171849423 171849423 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:171849423G>A ENST00000311601.5 - 2 323 c.153C>T c.(151-153)ctC>ctT p.L51L SH3PXD2B_ENST00000519643.1_Silent_p.L51L NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 51 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCCTTACCTGGAGGTCAAAAA 0.488000 7 18 0 0 0.001984 0 0 FOXO4 4303 broad.mit.edu 37 X 70321242 70321242 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:70321242C>A ENST00000374259.3 + 2 1494 c.1162C>A c.(1162-1164)Ccc>Acc p.P388T FOXO4_ENST00000341558.3_Missense_Mutation_p.P333T NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 388 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) CCAGGTAGATCCCATTCTGTC 0.637000 21 67 5.26018e-13 8.09823e-13 0.001882 1 0 GPI 2821 broad.mit.edu 37 19 34859521 34859521 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:34859521C>T ENST00000415930.3 + 5 603 c.433C>T c.(433-435)Cgg>Tgg p.R145W GPI_ENST00000356487.5_Missense_Mutation_p.R106W|GPI_ENST00000586425.1_Missense_Mutation_p.R106W NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 106 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) TCTGCGGAACCGGTCAAACAC 0.582000 5 55 0 0 0.001168 0 0 INPP1 3628 broad.mit.edu 37 2 191233942 191233942 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:191233942G>T ENST00000392329.2 + 6 1280 c.580G>T c.(580-582)Ggg>Tgg p.G194W INPP1_ENST00000541441.1_Missense_Mutation_p.G194W|INPP1_ENST00000322522.4_Missense_Mutation_p.G194W NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 194 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) CATACAGACAGGGGTTCCCCT 0.408000 38 84 3.43241e-23 6.10822e-23 0.002222 1 0 PRPF8 10594 broad.mit.edu 37 17 1554421 1554421 + Silent SNP C C A rs147050234 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:1554421C>A ENST00000572621.1 - 41 7099 c.6834G>T c.(6832-6834)tcG>tcT p.S2278S PRPF8_ENST00000304992.6_Silent_p.S2278S Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2278 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTAGTTCCACGAGGACTGGG 0.577000 15 20 1.3612e-06 1.72298e-06 0.003163 1 0 TTN 7273 broad.mit.edu 37 2 179576905 179576905 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:179576905C>A ENST00000589042.1 - 96 27876 c.27652G>T c.(27652-27654)Gtt>Ttt p.V9218F TTN_ENST00000342992.6_Missense_Mutation_p.V7974F|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8901F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8901 Ig-like 75. 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) GAATCTCCAACAGACACCTTA 0.458000 24 78 5.35047e-06 6.64543e-06 0.003330 1 0 EPHB1 2047 broad.mit.edu 37 3 134670615 134670615 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:134670615G>T ENST00000398015.3 + 3 896 c.526G>T c.(526-528)Gct>Tct p.A176S EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 176 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.A176T(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TTTTTACCTCGCTTTTCAGGA 0.463000 40 227 2.37825e-27 4.36122e-27 0.002522 1 0 TTF1 7270 broad.mit.edu 37 9 135267523 135267523 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:135267523C>A ENST00000334270.2 - 6 1966 c.1927G>T c.(1927-1929)Ggt>Tgt p.G643C NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 643 Myb-like 1. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACCATCTCACCAATCGTCTTC 0.488000 15 23 1.49906e-05 1.83095e-05 0.002450 1 0 EPHA6 285220 broad.mit.edu 37 3 96706376 96706376 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:96706376C>T ENST00000389672.5 + 3 691 c.653C>T c.(652-654)aCa>aTa p.T218I EPHA6_ENST00000470610.2_Missense_Mutation_p.T218I|EPHA6_ENST00000542517.1_Missense_Mutation_p.T124I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 123 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGCAAAGAAACATTTAATCTG 0.393000 45 106 0 0 0.008740 0 0 AMBRA1 55626 broad.mit.edu 37 11 46430094 46430094 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:46430094C>A ENST00000458649.2 - 17 3790 c.3372G>T c.(3370-3372)gaG>gaT p.E1124D AMBRA1_ENST00000314845.3_Missense_Mutation_p.E1034D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E1064D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E1064D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E1005D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E1095D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E1095D Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 1124 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CTGTCCCTGGCTCCGGCACCT 0.637000 19 24 1.55795e-14 2.5033e-14 0.001882 1 0 ARHGAP4 393 broad.mit.edu 37 X 153186130 153186130 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:153186130C>T ENST00000370028.3 - 5 688 c.631G>A c.(631-633)Ggg>Agg p.G211R ARHGAP4_ENST00000350060.5_Missense_Mutation_p.G211R|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G190R|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G188R NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 211 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGAGGGGCCCTGCCTCAGTG 0.692000 27 76 0 0 0.005443 0 0 CNTN4 152330 broad.mit.edu 37 3 2787225 2787225 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:2787225G>T ENST00000397461.1 + 5 586 c.202G>T c.(202-204)Gat>Tat p.D68Y CNTN4_ENST00000418658.1_Missense_Mutation_p.D68Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.D68Y NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 68 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAATGGAACAGATGTTGACAC 0.348000 13 66 1.49906e-05 1.83095e-05 0.002450 1 0 KLHL4 56062 broad.mit.edu 37 X 86872999 86872999 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:86872999G>T ENST00000373119.4 + 4 937 c.792G>T c.(790-792)ctG>ctT p.L264L KLHL4_ENST00000373114.4_Silent_p.L264L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 264 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 TTCTGCAGCTGACTCAGGTCA 0.418000 16 52 0.00074312 0.000855557 0.006122 1 0 RBM44 375316 broad.mit.edu 37 2 238725983 238725983 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:238725983G>A ENST00000316997.4 + 3 556 c.424G>A c.(424-426)Gag>Aag p.E142K RBM44_ENST00000409864.1_Missense_Mutation_p.E142K|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 141 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GCAGAAAAAAGAGGAGGTTTT 0.308000 8 9 0 0 0.003080 0 0 KRTAP19-1 337882 broad.mit.edu 37 21 31852534 31852534 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:31852534G>T ENST00000390689.2 - 1 129 c.103C>A c.(103-105)Cgg>Agg p.R35R NM_181607.1 NP_853638.1 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 35 26 X 2 AA repeats of G-[YCGS]. intermediate filament cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CCAGAACCCCGTCTGCAGAAG 0.587000 78 240 4.00405e-42 7.59507e-42 0.003610 1 0 SSPO 23145 broad.mit.edu 37 7 149515769 149515769 + RNA SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:149515769C>T ENST00000378016.2 + 0 11670 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTCCTGGTCCCCCTGCTCCA 0.682000 14 39 0 0 0.003163 0 0 FOXI1 2299 broad.mit.edu 37 5 169535566 169535566 + Missense_Mutation SNP G G T rs150705492 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:169535566G>T ENST00000449804.2 + 2 848 c.803G>T c.(802-804)aGt>aTt p.S268I FOXI1_ENST00000306268.6_Missense_Mutation_p.S363I NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 363 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTACAACAGTGTCAACACC 0.572000 Pendred syndrome 31 36 2.46105e-21 4.27616e-21 0.002096 1 0 NGF 4803 broad.mit.edu 37 1 115829133 115829133 + Missense_Mutation SNP C C A rs150136942 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:115829133C>A ENST00000369512.2 - 3 452 c.284G>T c.(283-285)cGt>cTt p.R95L RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 95 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding p.R95H(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TGCAGCTTCACGGGGAGGCTG 0.602000 17 37 1.02788e-11 1.53257e-11 0.004990 1 0 POLD2 5425 broad.mit.edu 37 7 44156578 44156578 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:44156578G>A ENST00000406581.2 - 7 1267 c.618C>T c.(616-618)ggC>ggT p.G206G POLD2_ENST00000452185.1_Silent_p.G206G|POLD2_ENST00000223361.3_Silent_p.G206G NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 206 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 CGCCTCCACCGCCACCCAGGC 0.692000 20 20 0 0 0.001523 0 0 BAI2 576 broad.mit.edu 37 1 32196416 32196416 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:32196416C>A ENST00000373658.3 - 29 4706 c.4365G>T c.(4363-4365)aaG>aaT p.K1455N BAI2_ENST00000373655.2_Missense_Mutation_p.K1455N|BAI2_ENST00000257070.4_Missense_Mutation_p.K1422N|BAI2_ENST00000398556.3_Missense_Mutation_p.K1370N|BAI2_ENST00000527361.1_Missense_Mutation_p.K1422N|BAI2_ENST00000440175.2_Missense_Mutation_p.K1064N|BAI2_ENST00000398538.1_Missense_Mutation_p.K1443N|BAI2_ENST00000398542.1_Missense_Mutation_p.K1355N|BAI2_ENST00000398547.1_Missense_Mutation_p.K1388N|BAI2_ENST00000465256.1_5'UTR NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1455 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGGAGCCCATCTTCATGGTAG 0.672000 29 66 3.69857e-22 6.47738e-22 0.008361 1 0 DNAH8 1769 broad.mit.edu 37 6 38783335 38783335 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:38783335G>T ENST00000359357.3 + 24 3028 c.2774G>T c.(2773-2775)gGg>gTg p.G925V DNAH8_ENST00000449981.2_Missense_Mutation_p.G1142V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G925V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCTCACTGGGGGCAACAGCAA 0.488000 16 24 4.7546e-09 6.66853e-09 0.004007 1 0 PRDM9 56979 broad.mit.edu 37 5 23522775 23522775 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:23522775C>A ENST00000296682.3 + 8 845 c.663C>A c.(661-663)ccC>ccA p.P221P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 221 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCCATGGGCCCCCTACATTTG 0.532000 HNSCC(3;0.000094) 16 46 2.23348e-06 2.80563e-06 0.004007 1 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 5 27 0 0 0.003080 0 0 FRAS1 80144 broad.mit.edu 37 4 79455609 79455609 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:79455609G>A ENST00000264895.6 + 71 11372 c.10932G>A c.(10930-10932)ctG>ctA p.L3644L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3639 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TTAGATTCCTGATACCCATTG 0.468000 9 132 0 0 0.000978 0 0 HUWE1 10075 broad.mit.edu 37 X 53577916 53577916 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:53577916G>C ENST00000342160.3 - 64 9788 c.9331C>G c.(9331-9333)Cgt>Ggt p.R3111G HUWE1_ENST00000262854.6_Missense_Mutation_p.R3111G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3111 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CCAAACAGACGCTCATGCATG 0.582000 6 60 0 0 0.001168 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641844 106641844 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:106641844C>A ENST00000390605.2 - 0 128 CCAGACTGCACCAGCTGAACC 0.582000 35 53 1.836e-18 3.12451e-18 0.003755 1 0 DOCK9 23348 broad.mit.edu 37 13 99549811 99549811 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:99549811G>A ENST00000376460.1 - 15 1720 c.1640C>T c.(1639-1641)gCc>gTc p.A547V DOCK9_ENST00000339416.2_Missense_Mutation_p.A548V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A559V|DOCK9_ENST00000442173.1_Missense_Mutation_p.A547V NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 548 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTGTAGATGGCAGAAAATCT 0.398000 57 198 0 0 0.003610 0 0 TXNDC12 51060 broad.mit.edu 37 1 52489195 52489195 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:52489195C>A ENST00000371626.4 - 6 1481 c.407G>T c.(406-408)aGc>aTc p.S136I TXNDC12_ENST00000472624.1_5'UTR NM_015913.3 NP_056997.1 O95831 AIFM1_HUMAN thioredoxin domain containing 12 (endoplasmic reticulum) 209 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 ATACTTGTAGCTGGGGTTTCC 0.418000 27 55 8.16721e-17 1.36189e-16 0.002096 1 0 IQGAP3 128239 broad.mit.edu 37 1 156507066 156507066 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:156507066T>A ENST00000361170.2 - 27 3339 c.3329A>T c.(3328-3330)gAg>gTg p.E1110V IQGAP3_ENST00000498755.1_5'UTR NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1110 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTCTGGACCTCGGGGTGGCT 0.557000 26 49 0 0 0.003954 0 0 SNAP91 9892 broad.mit.edu 37 6 84375238 84375238 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:84375238C>T ENST00000428679.2 - 3 786 c.193G>A c.(193-195)Gag>Aag p.E65K SNAP91_ENST00000521743.1_Missense_Mutation_p.E65K|SNAP91_ENST00000437520.1_Missense_Mutation_p.E65K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E65K|SNAP91_ENST00000369694.2_Missense_Mutation_p.E65K|SNAP91_ENST00000520213.1_Missense_Mutation_p.E65K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E65K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E65K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E65K O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 65 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GTTGCCCGCTCAAAGAGAGTG 0.383000 26 140 0 0 0.003330 0 0 COG6 57511 broad.mit.edu 37 13 40233511 40233511 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:40233511A>T ENST00000416691.1 + 2 264 c.164A>T c.(163-165)gAa>gTa p.E55V COG6_ENST00000455146.3_Missense_Mutation_p.E55V NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 55 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) GAGATGTTAGAAGCTCTCAAG 0.323000 6 26 0 0 0.001168 0 0 ACSL5 51703 broad.mit.edu 37 10 114181795 114181795 + Splice_Site SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:114181795T>A ENST00000393081.1 + 16 1783 c.e16+2 ACSL5_ENST00000354655.4_Splice_Site|ACSL5_ENST00000354273.4_Splice_Site|ACSL5_ENST00000369410.3_Splice_Site|ACSL5_ENST00000433418.1_Splice_Site|ACSL5_ENST00000356116.1_Splice_Site NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GAAGGAGAGGTGGGTAGGTCA 0.458000 5 62 0 0 0.000602 0 0 GPR50 9248 broad.mit.edu 37 X 150349293 150349293 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:150349293C>A ENST00000218316.3 + 2 1307 c.1238C>A c.(1237-1239)gCt>gAt p.A413D NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 413 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CACTCCAAGGCTGCCTCTGGT 0.582000 125 354 2.91419e-48 5.55963e-48 0.003610 1 0 HAUS2 55142 broad.mit.edu 37 15 42850469 42850469 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:42850469T>G ENST00000260372.3 + 2 230 c.167T>G c.(166-168)aTt>aGt p.I56S HAUS2_ENST00000568846.2_Intron|HAUS2_ENST00000568876.1_Intron NM_018097.2 NP_060567.1 Q9NVX0 HAUS2_HUMAN HAUS augmin-like complex, subunit 2 56 cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly centrosome|cytosol|HAUS complex|microtubule|spindle endometrium(1)|large_intestine(1)|lung(1) 3 ATCACAAATATTCAAGCTGAA 0.333000 6 15 0 0 0.004482 0 0 OR4K17 390436 broad.mit.edu 37 14 20586569 20586569 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:20586569C>A ENST00000315543.4 + 1 1004 c.1004C>A c.(1003-1005)gCt>gAt p.A335D NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTCTGGAGAGCTTTTGTGAAT 0.378000 13 15 1.05317e-09 1.49935e-09 0.002450 1 0 ITGA9 3680 broad.mit.edu 37 3 37536029 37536029 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:37536029C>T ENST00000264741.5 + 5 838 c.582C>T c.(580-582)tgC>tgT p.C194C ITGA9_ENST00000422441.1_Silent_p.C194C NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 194 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) ACGGCTCCTGCCAGGCTGGGA 0.522000 12 27 0 0 0.001368 0 0 COLEC12 81035 broad.mit.edu 37 18 346601 346601 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr18:346601T>A ENST00000400256.3 - 5 1228 c.1021A>T c.(1021-1023)Acg>Tcg p.T341S NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 341 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) ACAATATCCGTCTCAAAGAGC 0.473000 22 26 0 0 0.001882 0 0 NWD1 284434 broad.mit.edu 37 19 16874727 16874727 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:16874727G>T ENST00000524140.2 + 9 2640 c.2222G>T c.(2221-2223)cGc>cTc p.R741L NWD1_ENST00000549814.1_Missense_Mutation_p.R741L|NWD1_ENST00000552788.1_Missense_Mutation_p.R741L|NWD1_ENST00000523826.1_Missense_Mutation_p.R535L|NWD1_ENST00000379808.3_Missense_Mutation_p.R741L|NWD1_ENST00000339803.6_Missense_Mutation_p.R606L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 741 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACTCGGGCCGCCTGGAGGAG 0.617000 21 32 1.2644e-06 1.60659e-06 0.001523 1 0 ARMC3 219681 broad.mit.edu 37 10 23326202 23326202 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:23326202C>G ENST00000298032.5 + 19 2497 c.2413C>G c.(2413-2415)Ctg>Gtg p.L805V ARMC3_ENST00000409983.3_Missense_Mutation_p.L798V|ARMC3_ENST00000376528.4_Missense_Mutation_p.L542V NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 805 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCTGCAGGCTCTGGCTGATAG 0.493000 10 43 0 0 0.001855 0 0 COL6A2 1292 broad.mit.edu 37 21 47545884 47545884 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:47545884C>A ENST00000300527.4 + 26 2259 c.2155C>A c.(2155-2157)Cgg>Agg p.R719R COL6A2_ENST00000409416.1_Silent_p.R719R|COL6A2_ENST00000397763.1_Silent_p.R719R|COL6A2_ENST00000310645.5_Silent_p.R719R|COL6A2_ENST00000357838.4_Silent_p.R719R NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 719 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CAAGGAGAGCCGGCGCCAGAA 0.637000 14 52 4.36969e-10 6.30226e-10 0.001855 1 0 NPBWR1 2831 broad.mit.edu 37 8 53853136 53853136 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:53853136T>C ENST00000331251.3 + 1 2146 c.669T>C c.(667-669)taT>taC p.Y223Y NM_005285.3 NP_005276.2 P48145 NPBW1_HUMAN neuropeptides B/W receptor 1 223 synaptic transmission plasma membrane opioid receptor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2) 17 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GTGTCCTCTATACCACCCTGC 0.662000 7 13 0 0 0.001984 0 0 ABTB2 25841 broad.mit.edu 37 11 34218979 34218979 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:34218979C>A ENST00000435224.2 - 3 1561 c.1137G>T c.(1135-1137)tgG>tgT p.W379C ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.W193C NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 193 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CGTCGGGGGACCAAGTGATGG 0.662000 8 39 0.00307968 0.003503 0.003080 1 0 ANO1 55107 broad.mit.edu 37 11 69970497 69970497 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:69970497G>C ENST00000355303.5 + 9 1244 c.939G>C c.(937-939)aaG>aaC p.K313N ANO1_ENST00000398543.2_Missense_Mutation_p.K197N|ANO1_ENST00000538023.1_Missense_Mutation_p.K313N|ANO1_ENST00000531349.1_Missense_Mutation_p.K48N|ANO1_ENST00000530676.1_Missense_Mutation_p.K197N|ANO1_ENST00000316296.5_Missense_Mutation_p.K285N NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 313 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 TTTTCTATAAGTACCAGCCCA 0.572000 8 28 0 0 0.006214 0 0 ZNF317 57693 broad.mit.edu 37 19 9269521 9269521 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:9269521A>T ENST00000247956.6 + 6 710 c.405A>T c.(403-405)aaA>aaT p.K135N ZNF317_ENST00000360385.3_Missense_Mutation_p.K103N NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 CTCCATCTAAAACCAAGTGGT 0.413000 4 26 0 0 0.000248 0 0 AQR 9716 broad.mit.edu 37 15 35174838 35174838 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:35174838T>A ENST00000156471.5 - 27 3255 c.3030A>T c.(3028-3030)gaA>gaT p.E1010D NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1010 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AGGCTCTGAATTCCTATGGAA 0.378000 7 30 0 0 0.004482 0 0 OR2W5 441932 broad.mit.edu 37 1 247654603 247654603 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:247654603C>A ENST00000522351.1 + 0 234 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCCACACACCCATGTACTTCT 0.498000 18 56 2.35188e-11 3.49091e-11 0.006122 1 0 FSHR 2492 broad.mit.edu 37 2 49190511 49190511 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:49190511G>C ENST00000406846.2 - 10 1568 c.1449C>G c.(1447-1449)ctC>ctG p.L483L FSHR_ENST00000304421.4_Silent_p.L457L|FSHR_ENST00000346173.3_Silent_p.L421L|FSHR_ENST00000541117.1_Silent_p.L219L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 483 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CAGCATGGCGGAGCTGCACCT 0.522000 Gonadal Dysgenesis, 46 XX 10 27 0 0 0.006214 0 0 TRPM7 54822 broad.mit.edu 37 15 50886737 50886737 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:50886737A>T ENST00000313478.7 - 24 3645 c.3364T>A c.(3364-3366)Tat>Aat p.Y1122N TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1122N NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1122 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTCTCATGATAAGCCATAATA 0.323000 10 49 0 0 0.006214 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459340 92459340 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:92459340G>T ENST00000318445.6 + 2 512 c.298G>T c.(298-300)Ggg>Tgg p.G100W SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G100W NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 100 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GAGCTACTTCGGGGCACGCGG 0.672000 10 37 7.48243e-07 9.58098e-07 0.006214 1 0 BBS2 583 broad.mit.edu 37 16 56545071 56545071 + Splice_Site SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:56545071C>G ENST00000245157.5 - 3 891 c.471_splice c.e3+1 p.T157_splice BBS2_ENST00000568104.1_Splice_Site_p.T157_splice|BBS2_ENST00000561951.1_5'UTR NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 157 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 TTCTTCATACCGTCCAAAAGA 0.363000 Bardet-Biedl syndrome 19 30 0 0 0.001523 0 0 RBM44 375316 broad.mit.edu 37 2 238726838 238726838 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:238726838G>T ENST00000316997.4 + 3 1411 c.1279G>T c.(1279-1281)Gat>Tat p.D427Y RBM44_ENST00000409864.1_Missense_Mutation_p.D427Y|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 426 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GGCAATAGAAGATAATACGTC 0.383000 23 31 6.44725e-10 9.23827e-10 0.002299 1 0 RNF34 80196 broad.mit.edu 37 12 121855448 121855448 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:121855448C>G ENST00000361234.5 + 3 539 c.367C>G c.(367-369)Ctg>Gtg p.L123V RNF34_ENST00000392464.2_Missense_Mutation_p.L123V|RNF34_ENST00000392465.3_Missense_Mutation_p.L124V|RNF34_ENST00000555076.1_Intron NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 123 SAP 1. apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) GGTGAAGGACCTGCGGCAGTA 0.433000 16 54 0 0 0.003163 0 0 KMO 8564 broad.mit.edu 37 1 241729848 241729848 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:241729848A>T ENST00000366559.4 + 9 1056 c.745A>T c.(745-747)Acc>Tcc p.T249S KMO_ENST00000366557.4_Missense_Mutation_p.T249S|KMO_ENST00000366558.3_Missense_Mutation_p.T249S NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 249 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) AAAACTTCTAACCAGTAATGA 0.403000 23 67 0 0 0.001882 0 0 MYL3 4634 broad.mit.edu 37 3 46899892 46899892 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:46899892C>T ENST00000395869.1 - 5 592 c.541G>A c.(541-543)Ggc>Agc p.G181S MYL3_ENST00000292327.4_Missense_Mutation_p.G181S P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 181 EF-hand 3. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) TTGATGCAGCCATTGGAGTCC 0.607000 12 46 0 0 0.000978 0 0 WRN 7486 broad.mit.edu 37 8 30973963 30973963 + Silent SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:30973963A>T ENST00000298139.5 + 20 2616 c.2367A>T c.(2365-2367)ctA>ctT p.L789L NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 789 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AACTGAATCTATCCTGTGGAA 0.388000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 13 42 0 0 0.003163 0 0 NARG2 79664 broad.mit.edu 37 15 60760341 60760341 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:60760341C>A ENST00000261520.4 - 4 561 c.327G>T c.(325-327)gtG>gtT p.V109V NARG2_ENST00000561114.1_Silent_p.V109V|NARG2_ENST00000439632.1_5'UTR|NARG2_ENST00000558654.1_5'UTR NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 109 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCAACAAGTCCACATAACTCC 0.368000 9 27 3.09899e-07 4.00689e-07 0.004482 1 0 CSF2RB 1439 broad.mit.edu 37 22 37325452 37325452 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:37325452C>G ENST00000262825.5 + 5 617 c.400C>G c.(400-402)Cct>Gct p.P134A CSF2RB_ENST00000536485.1_Missense_Mutation_p.P75A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P134A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P134A NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 134 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AGTCCAGCCTCCTGAGCCCAG 0.652000 23 131 0 0 0.003954 0 0 TBX4 9496 broad.mit.edu 37 17 59556073 59556073 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:59556073C>A ENST00000393853.4 + 6 798 c.635C>A c.(634-636)aCt>aAt p.T212N TBX4_ENST00000240335.1_Missense_Mutation_p.T212N|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 212 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TCCAAAAACACTGCTTTCTGC 0.537000 28 127 1.75199e-13 2.73541e-13 0.007291 1 0 TNR 7143 broad.mit.edu 37 1 175332844 175332844 + Splice_Site SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:175332844C>A ENST00000367674.1 - 13 3415 c.2707_splice c.e13+1 p.V903_splice TNR_ENST00000263525.2_Splice_Site_p.V903_splice NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 903 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACTTTGTTACCTTGGGTGGGT 0.448000 21 56 9.95505e-16 1.62722e-15 0.002299 1 0 MMP17 4326 broad.mit.edu 37 12 132335517 132335517 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:132335517G>T ENST00000360564.1 + 10 1612 c.1510G>T c.(1510-1512)Ggc>Tgc p.G504C MMP17_ENST00000535291.1_Missense_Mutation_p.G420C|MMP17_ENST00000535004.1_Missense_Mutation_p.G44C NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 504 Hemopexin-like 4. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) AGTGCTGGATGGCGAGCTGGA 0.652000 7 18 0.00621372 0.00700763 0.006214 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79058942 79058942 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:79058942G>C ENST00000388820.4 - 19 3521 c.3311C>G c.(3310-3312)gCg>gGg p.A1104G NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1104 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CGTGGAGGGCGCAGCAGGATG 0.677000 4 27 0 0 0.000248 0 0 LRP1B 53353 broad.mit.edu 37 2 141660631 141660631 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:141660631G>T ENST00000389484.3 - 23 4595 c.3624C>A c.(3622-3624)gaC>gaA p.D1208E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1208 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGTTTTATTGTCTTTGTTGA 0.428000 TSP Lung(27;0.18) 14 49 1.52009e-12 2.31333e-12 0.003163 1 0 ABCA6 23460 broad.mit.edu 37 17 67108373 67108373 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:67108373C>T ENST00000284425.2 - 16 2257 c.2083G>A c.(2083-2085)Ggt>Agt p.G695S NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 695 ABC transporter 1. 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) ATAGAAGAACCTGCACACTTC 0.368000 49 183 0 0 0.003610 0 0 CACNA1F 778 broad.mit.edu 37 X 49068426 49068426 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:49068426C>A ENST00000376265.2 - 35 4126 c.4065G>T c.(4063-4065)caG>caT p.Q1355H CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1344H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1290H NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1355 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GTGTGCCATCCTGAAGAGCCA 0.517000 24 49 7.41945e-09 1.0297e-08 0.005443 1 0 EXOC6B 23233 broad.mit.edu 37 2 72742214 72742214 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:72742214C>T ENST00000272427.6 - 9 1087 c.957G>A c.(955-957)agG>agA p.R319R EXOC6B_ENST00000410104.1_Silent_p.R319R NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 319 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 CCTGTTTTCGCCTCTGTTTTC 0.378000 4 18 0 0 0.000248 0 0 MKI67 4288 broad.mit.edu 37 10 129913899 129913899 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:129913899A>T ENST00000368654.3 - 7 1148 c.773T>A c.(772-774)cTa>cAa p.L258Q MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 258 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ACAATACTGTAGGACATTTTC 0.378000 6 18 0 0 0.001168 0 0 CTNND2 1501 broad.mit.edu 37 5 11022887 11022887 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:11022887C>A ENST00000304623.8 - 17 3182 c.2993G>T c.(2992-2994)gGa>gTa p.G998V CTNND2_ENST00000359640.2_Missense_Mutation_p.G940V|CTNND2_ENST00000503622.1_Missense_Mutation_p.G661V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G565V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G907V NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 998 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTACTTATCTCCTTTGCTTTT 0.483000 30 47 2.80507e-11 4.14499e-11 0.002445 1 0 CKAP5 9793 broad.mit.edu 37 11 46839864 46839864 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:46839864C>A ENST00000529230.1 - 3 294 c.248G>T c.(247-249)gGa>gTa p.G83V CKAP5_ENST00000415402.1_Missense_Mutation_p.G83V|CKAP5_ENST00000354558.3_Missense_Mutation_p.G83V|CKAP5_ENST00000312055.5_Missense_Mutation_p.G83V Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 83 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TACTTACTTTCCTGCTACATG 0.338000 9 69 0.00448238 0.00507237 0.004482 1 0 FAM199X 139231 broad.mit.edu 37 X 103431193 103431193 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:103431193G>T ENST00000493442.1 + 4 786 c.620G>T c.(619-621)cGg>cTg p.R207L FAM199X_ENST00000299906.5_3'UTR NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 207 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 ATGGGTCTTCGGGAGCAACTT 0.353000 34 58 9.17885e-22 1.59905e-21 0.003271 1 0 HOXB3 3213 broad.mit.edu 37 17 46627892 46627892 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:46627892C>A ENST00000470495.1 - 2 2547 c.1100G>T c.(1099-1101)gGc>gTc p.G367V HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G367V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.G367V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G294V|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G235V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.G367V|HOXB3_ENST00000460160.1_Missense_Mutation_p.G235V|HOXB3_ENST00000490677.1_Missense_Mutation_p.G233V|HOXB3_ENST00000489475.1_Missense_Mutation_p.G294V P14651 HXB3_HUMAN homeobox B3 367 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GAGGGAGGGGCCGGCAGGGGG 0.716000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 29 1.5739e-10 2.28993e-10 0.004007 1 0 ANK2 287 broad.mit.edu 37 4 114286264 114286264 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:114286264C>A ENST00000357077.4 + 41 11011 c.10958C>A c.(10957-10959)aCa>aAa p.T3653K ANK2_ENST00000264366.6_Missense_Mutation_p.T3620K|ANK2_ENST00000394537.3_Missense_Mutation_p.T1568K|ANK2_ENST00000509550.1_Missense_Mutation_p.T744K|ANK2_ENST00000510275.2_Missense_Mutation_p.T220K|ANK2_ENST00000506722.1_Missense_Mutation_p.T1559K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3620 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.T3653K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGACCAACACAGAACCTCTC 0.413000 12 59 7.03913e-09 9.81032e-09 0.001368 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947582 57947582 + Silent SNP C C A rs139135884 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:57947582C>A ENST00000335397.3 + 3 982 c.666C>A c.(664-666)atC>atA p.I222I NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TGTTTATCATCGTGGCCATCA 0.512000 34 93 4.39465e-27 8.03662e-27 0.002836 1 0 ZNF99 7652 broad.mit.edu 37 19 22952090 22952090 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:22952090C>G ENST00000397104.3 - 2 102 c.103G>C c.(103-105)Gct>Cct p.A35P ZNF99_ENST00000596209.1_Missense_Mutation_p.A14P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCCTCCAGAGCGAATTCTATG 0.408000 28 56 0 0 0.006320 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739806 91739806 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:91739806G>T ENST00000389857.6 - 30 5336 c.5250C>A c.(5248-5250)taC>taA p.Y1750* CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.Y274* NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1750 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTGGCTTTACGTACTGCCCGG 0.667000 9 10 1.76689e-08 2.42171e-08 0.006214 1 0 DOCK2 1794 broad.mit.edu 37 5 169145670 169145670 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:169145670G>T ENST00000256935.8 + 22 2222 c.2142G>T c.(2140-2142)atG>atT p.M714I DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.M206I NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 714 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) GGAAATTGATGACAGTGCTGA 0.368000 17 17 1.99824e-07 2.61429e-07 0.004990 1 0 DMD 1756 broad.mit.edu 37 X 32407680 32407680 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:32407680G>A ENST00000357033.4 - 32 4662 c.4456C>T c.(4456-4458)Cct>Tct p.P1486S DMD_ENST00000378677.2_Missense_Mutation_p.P1482S NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1486 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCAATGCAGGCAAGTGCATC 0.413000 23 54 0 0 0.002780 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059831 79059831 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:79059831T>A ENST00000388820.4 - 18 2959 c.2749A>T c.(2749-2751)Agc>Tgc p.S917C ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 917 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TCCAGGGCGCTCTGCTCATCC 0.701000 8 13 0 0 0.003080 0 0 PTPRC 5788 broad.mit.edu 37 1 198703530 198703530 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:198703530C>A ENST00000367376.2 + 22 2418 c.2247C>A c.(2245-2247)gtC>gtA p.V749V PTPRC_ENST00000348564.6_Silent_p.V590V|PTPRC_ENST00000352140.3_Silent_p.V701V|PTPRC_ENST00000442510.2_Silent_p.V751V|PTPRC_ENST00000594404.1_Silent_p.V588V NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 749 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTGTCATGGTCACTCGATGTG 0.418000 103 251 5.12507e-49 9.80578e-49 0.003610 1 0 BCHE 590 broad.mit.edu 37 3 165547481 165547481 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:165547481G>T ENST00000264381.3 - 2 1507 c.1341C>A c.(1339-1341)taC>taA p.Y447* BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 447 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GTTCAAAATAGTAGAAAAAGG 0.428000 18 56 1.33834e-09 1.89717e-09 0.007413 1 0 VWF 7450 broad.mit.edu 37 12 6182846 6182846 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:6182846G>T ENST00000261405.5 - 8 1190 c.936C>A c.(934-936)tgC>tgA p.C312* NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 312 TIL 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCAGGCTCTGGCAGGTCCTGG 0.542000 12 75 9.05144e-12 1.35567e-11 0.001855 1 0 CACNA1I 8911 broad.mit.edu 37 22 40066944 40066944 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:40066944C>T ENST00000336649.4 + 29 4542 c.4542C>T c.(4540-4542)caC>caT p.H1514H CACNA1I_ENST00000401624.1_Silent_p.H1508H|CACNA1I_ENST00000400164.3_Silent_p.H1473H|CACNA1I_ENST00000404898.1_Silent_p.H1473H|CACNA1I_ENST00000407673.1_Silent_p.H1473H|CACNA1I_ENST00000402142.3_Silent_p.H1508H Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1508 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCCTGGAGCACTACAATCAGC 0.602000 15 69 0 0 0.004007 0 0 BEND5 79656 broad.mit.edu 37 1 49224782 49224782 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:49224782G>C ENST00000371833.3 - 3 621 c.535C>G c.(535-537)Ccc>Gcc p.P179A AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 179 large_intestine(5)|lung(2)|skin(1) 8 AGAGCCCGGGGCACCACAGCA 0.627000 21 47 0 0 0.001523 0 0 CACNA1E 777 broad.mit.edu 37 1 181764028 181764028 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:181764028G>T ENST00000526775.1 + 44 6035 c.5870G>T c.(5869-5871)cGt>cTt p.R1957L CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2019L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2000L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1970L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1908L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1583L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1976L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2019 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 TCCATGAGACGTTCATTTTCC 0.468000 14 43 2.48551e-13 3.86245e-13 0.004990 1 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709587 31709587 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:31709587C>A ENST00000382835.2 - 1 425 c.400G>T c.(400-402)Gca>Tca p.A134S NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 134 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 TTGAGGCTTGCAGGTTGGCAG 0.483000 41 175 3.4345e-17 5.78534e-17 0.002852 1 0 C6orf118 168090 broad.mit.edu 37 6 165715399 165715399 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:165715399G>T ENST00000543069.1 - 2 681 c.100C>A c.(100-102)Ctt>Att p.L34I C6orf118_ENST00000230301.8_Missense_Mutation_p.L138I Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 138 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GTGTGGGAAAGAGAGGCCTGG 0.617000 6 135 1.06961e-07 1.41901e-07 0.003080 1 0 B3GALT5 10317 broad.mit.edu 37 21 41032852 41032852 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:41032852G>T ENST00000380620.3 + 5 958 c.366G>T c.(364-366)aaG>aaT p.K122N B3GALT5_ENST00000380618.1_Missense_Mutation_p.K122N|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.K122N|B3GALT5_ENST00000343118.4_Missense_Mutation_p.K122N Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 122 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) TTATCCAGAAGGATTTCCTAG 0.522000 18 61 6.49762e-13 9.9801e-13 0.006122 1 0 RBMX 27316 broad.mit.edu 37 X 135956515 135956515 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:135956515C>A ENST00000320676.7 - 9 1116 c.962G>T c.(961-963)gGt>gTt p.G321V RBMX_ENST00000570135.1_Missense_Mutation_p.G186V|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Missense_Mutation_p.G193V|RBMX_ENST00000562646.1_3'UTR NM_002139.3 NP_002130.2 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 321 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TCGACTTCCACCATATCCGTC 0.532000 15 302 4.11147e-13 6.34451e-13 0.003755 1 0 TMEM38B 55151 broad.mit.edu 37 9 108483876 108483876 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:108483876G>T ENST00000374688.1 + 3 876 c.166G>T c.(166-168)Gtt>Ttt p.V56F TMEM38B_ENST00000374692.3_Missense_Mutation_p.V110F Q9NVV0 TM38B_HUMAN transmembrane protein 38B 110 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 ATATCTACCTGTTCAACTACT 0.363000 10 29 0.00010058 0.00011954 0.001368 1 0 SBK1 388228 broad.mit.edu 37 16 28328794 28328794 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:28328794G>T ENST00000341901.4 + 2 871 c.82G>T c.(82-84)Ggt>Tgt p.G28C NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 28 cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GCCTGGTGCCGGTGTGCCCCT 0.672000 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 67 4.72057e-08 6.35166e-08 0.003954 1 0 CDR1 1038 broad.mit.edu 37 X 139866350 139866350 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:139866350G>T ENST00000370532.2 - 1 373 c.182C>A c.(181-183)aCg>aAg p.T61K NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 61 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CAGGAAATCCGTGTCTTCCAG 0.438000 84 185 1.26005e-42 2.397e-42 0.003610 1 0 SMUG1 23583 broad.mit.edu 37 12 54577464 54577464 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:54577464T>A ENST00000505128.1 - 3 383 c.261A>T c.(259-261)ggA>ggT p.G87G SMUG1_ENST00000508394.2_Silent_p.G87G|SMUG1_ENST00000514196.1_Silent_p.G87G|SMUG1_ENST00000243112.5_Silent_p.G87G|SMUG1_ENST00000506595.1_Silent_p.G87G|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000401977.2_Silent_p.G87G|SMUG1_ENST00000337581.3_Silent_p.G87G|SMUG1_ENST00000514685.1_Silent_p.G87G|SMUG1_ENST00000513838.1_Silent_p.G87G Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 87 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 TGCCAAAAGGTCCAGGGTTCA 0.582000 Base excision repair (BER), DNA glycosylases 8 57 0 0 0.004482 0 0 KRT5 3852 broad.mit.edu 37 12 52911448 52911448 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:52911448C>A ENST00000252242.4 - 5 1408 c.1018G>T c.(1018-1020)Gct>Tct p.A340S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 340 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TTGACCTCAGCGATGATGCTA 0.577000 19 127 2.39187e-15 3.88692e-15 0.008871 1 0 SPI1 6688 broad.mit.edu 37 11 47381421 47381421 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:47381421G>A ENST00000378538.3 - 3 535 c.313C>T c.(313-315)Ccc>Tcc p.P105S SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.P105S|SPI1_ENST00000227163.4_Missense_Mutation_p.P106S NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 105 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) CCAAGACTGGGATGGGGTGGC 0.677000 22 40 0 0 0.004656 0 0 OR2C1 4993 broad.mit.edu 37 16 3406235 3406235 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:3406235A>G ENST00000304936.2 + 1 347 c.295A>G c.(295-297)Acc>Gcc p.T99A NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGGCTGCATAACCCAGCTCTA 0.567000 8 70 0 0 0.003080 0 0 BCAM 4059 broad.mit.edu 37 19 45322968 45322968 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:45322968G>T ENST00000391955.1 + 13 1792 c.1748G>T c.(1747-1749)cGg>cTg p.R583L BCAM_ENST00000270233.6_Missense_Mutation_p.R583L P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 583 cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CGCCAGCGGCGGGAGAAGGGG 0.637000 8 10 2.17888e-05 2.6515e-05 0.006214 1 0 FETUB 26998 broad.mit.edu 37 3 186358347 186358347 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:186358347C>T ENST00000265029.3 + 1 199 c.98C>T c.(97-99)tCc>tTc p.S33F FETUB_ENST00000382136.3_Missense_Mutation_p.S33F|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Missense_Mutation_p.S33F|FETUB_ENST00000450521.1_Missense_Mutation_p.S33F NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 33 Cystatin fetuin-B-type 1. S -> P (in dbSNP:rs34522046). extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GCTCTGCTCTCCCGGGGCTGC 0.577000 95 181 0 0 0.003610 0 0 SGCZ 137868 broad.mit.edu 37 8 13959971 13959971 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:13959971G>A ENST00000382080.1 - 7 1373 c.658C>T c.(658-660)Ccc>Tcc p.P220S SGCZ_ENST00000421524.2_Missense_Mutation_p.P173S NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 207 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ACCCCACGGGGAGCTTCCATG 0.448000 5 34 0 0 0.000602 0 0 AMY2A 279 broad.mit.edu 37 1 104163185 104163185 + Missense_Mutation SNP G G T rs142529431 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:104163185G>T ENST00000414303.2 + 5 821 c.757G>T c.(757-759)Ggt>Tgt p.G253C NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 253 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) AATTGATCTGGGTGGTGAGCC 0.348000 27 207 2.61675e-31 4.85236e-31 0.003214 1 0 TMPRSS7 344805 broad.mit.edu 37 3 111785291 111785291 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:111785291C>A ENST00000452346.2 + 13 1611 c.1608C>A c.(1606-1608)ctC>ctA p.L536L TMPRSS7_ENST00000419127.1_Silent_p.L410L Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 536 LDL-receptor class A 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATGGCCCTCTCATCTGTGATG 0.507000 25 95 5.45727e-16 8.94236e-16 0.008361 1 0 ZFP82 284406 broad.mit.edu 37 19 36884554 36884554 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:36884554C>A ENST00000392161.3 - 5 930 c.688G>T c.(688-690)Gaa>Taa p.E230* ZFP82_ENST00000392171.1_Nonsense_Mutation_p.E230* NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCCCACATTCCTTACATTCA 0.418000 15 84 1.5739e-10 2.28993e-10 0.004007 1 0 EIF2S3 1968 broad.mit.edu 37 X 24075597 24075597 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:24075597C>T ENST00000253039.4 + 3 446 c.193C>T c.(193-195)Cat>Tat p.H65Y NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 65 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 TTCTGGAGTTCATACTGTCAG 0.348000 9 41 0 0 0.004482 0 0 GBAS 2631 broad.mit.edu 37 7 56062641 56062641 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:56062641C>G ENST00000322090.3 + 8 701 c.672C>G c.(670-672)ttC>ttG p.F224L GBAS_ENST00000446778.1_Missense_Mutation_p.F185L NM_001483.2 NP_001474.1 O75323 NIPS2_HUMAN glioblastoma amplified sequence 224 integral to plasma membrane|membrane fraction|mitochondrion protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGGATTCTTCTCTCAGATTG 0.438000 4 99 0 0 0.000602 0 0 TRAF2 7186 broad.mit.edu 37 9 139814764 139814764 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:139814764G>C ENST00000359662.3 + 8 958 c.913G>C c.(913-915)Gag>Cag p.E305Q TRAF2_ENST00000536468.1_Missense_Mutation_p.E253Q|TRAF2_ENST00000247668.2_Missense_Mutation_p.E253Q|TRAF2_ENST00000482854.1_3'UTR Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 253 Missing (in Ref. 2; BAB70792). activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CTCGGTGCTGGAGGCAAAGCC 0.622000 10 34 0 0 0.006214 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214469 7214469 + Silent SNP C C A rs145957081 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:7214469C>A ENST00000361972.4 - 18 2229 c.2139G>T c.(2137-2139)gcG>gcT p.A713A SFMBT2_ENST00000397167.1_Silent_p.A713A NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 713 regulation of transcription, DNA-dependent nucleus p.A713A(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CCCCCGAGCCCGCGGTGAAGT 0.642000 7 17 0.00198382 0.00226039 0.001984 1 0 RIMS2 9699 broad.mit.edu 37 8 105025673 105025673 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:105025673T>G ENST00000507740.1 + 16 2726 c.2490T>G c.(2488-2490)gaT>gaG p.D830E RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1016E|RIMS2_ENST00000262231.10_Missense_Mutation_p.D855E NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1078 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTTTCAGGGATTGTGAAGCAG 0.448000 HNSCC(12;0.0054) 10 37 0 0 0.000978 0 0 SPATA20 64847 broad.mit.edu 37 17 48628411 48628411 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:48628411T>C ENST00000006658.6 + 12 1556 c.1436T>C c.(1435-1437)cTg>cCg p.L479P SPATA20_ENST00000393244.3_Missense_Mutation_p.L419P|SPATA20_ENST00000356488.4_Missense_Mutation_p.L463P|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 463 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CGGTACTCGCTGGAGCTGACT 0.642000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 36 0 0 0.000978 0 0 MED12 9968 broad.mit.edu 37 X 70345560 70345560 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:70345560T>G ENST00000333646.6 + 17 2618 c.2419T>G c.(2419-2421)Tta>Gta p.L807V MED12_ENST00000374102.1_Missense_Mutation_p.L807V|MED12_ENST00000374080.3_Missense_Mutation_p.L807V NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 807 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCTGACATTCTTAGGTACCTC 0.527000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 14 68 0 0 0.004007 0 0 UEVLD 55293 broad.mit.edu 37 11 18591865 18591865 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:18591865G>A ENST00000396197.3 - 4 281 c.253C>T c.(253-255)Cct>Tct p.P85S UEVLD_ENST00000543987.1_Missense_Mutation_p.P85S|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000379387.4_Missense_Mutation_p.P63S|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Missense_Mutation_p.P47S|UEVLD_ENST00000320750.6_Missense_Mutation_p.P63S|UEVLD_ENST00000300038.7_Missense_Mutation_p.P85S NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 85 UEV. cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 AAGCAAATAGGGGGAGCGAAA 0.368000 8 26 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113418829 113418829 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:113418829A>G ENST00000297405.5 - 35 5977 c.5733T>C c.(5731-5733)caT>caC p.H1911H CSMD3_ENST00000343508.3_Silent_p.H1871H|CSMD3_ENST00000455883.2_Silent_p.H1807H|CSMD3_ENST00000352409.3_Silent_p.H1841H NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1911 Sushi 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTATGGATCCATGGAGAATAT 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 45 0 0 0.001168 0 0 MARCH1 55016 broad.mit.edu 37 4 164534471 164534471 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:164534471G>A ENST00000503008.1 - 5 1213 c.237C>T c.(235-237)atC>atT p.I79I MARCH1_ENST00000514618.1_Silent_p.I79I|MARCH1_ENST00000339875.5_Silent_p.I62I|MARCH1_ENST00000274056.7_Silent_p.I79I NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 79 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTTACCTGCAGATGTCCTGAG 0.428000 7 66 0 0 0.004482 0 0 SLC6A11 6538 broad.mit.edu 37 3 10980044 10980044 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:10980044G>C ENST00000254488.2 + 14 1921 c.1855G>C c.(1855-1857)Gac>Cac p.D619H NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 619 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) ACTCAAGAGTGACGGGACCAT 0.552000 4 89 0 0 0.000602 0 0 URI1 8725 broad.mit.edu 37 19 30477230 30477230 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:30477230C>T ENST00000392271.1 + 4 570 c.45C>T c.(43-45)gtC>gtT p.V15V URI1_ENST00000360605.4_Silent_p.V73V|URI1_ENST00000312051.6_Silent_p.V51V|URI1_ENST00000542441.2_Silent_p.V91V NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 91 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding GAAAACTTGTCCATACTAATG 0.388000 17 86 0 0 0.007413 0 0 DST 667 broad.mit.edu 37 6 56341021 56341021 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:56341021T>C ENST00000370754.5 - 92 21696 c.21697A>G c.(21697-21699)Aca>Gca p.T7233A DST_ENST00000370788.2_Missense_Mutation_p.T4858A|DST_ENST00000370769.4_Missense_Mutation_p.T7055A|DST_ENST00000361203.3_Missense_Mutation_p.T6944A|DST_ENST00000244364.6_Missense_Mutation_p.T4641A|DST_ENST00000421834.2_Missense_Mutation_p.T4967A|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.T6729A Q03001 DYST_HUMAN dystonin 7053 EF-hand 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCAGTAAGTGTAGTTTCAGCC 0.433000 7 18 0 0 0.003080 0 0 ZNF609 23060 broad.mit.edu 37 15 64966165 64966165 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:64966165G>T ENST00000326648.3 + 4 1240 c.1112G>T c.(1111-1113)aGa>aTa p.R371I ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 371 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGCCGGGGTAGAGGCAAACGC 0.498000 14 80 2.32078e-09 3.28282e-09 0.003163 1 0 MYOZ3 91977 broad.mit.edu 37 5 150051463 150051463 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:150051463G>A ENST00000297130.4 + 5 616 c.417G>A c.(415-417)ctG>ctA p.L139L CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Silent_p.L139L NM_001122853.2|NM_133371.4 NP_001116325.1|NP_588612.2 Q8TDC0 MYOZ3_HUMAN myozenin 3 139 sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCGCCCTGGCGCCAGGTG 0.736000 4 4 0 0 0.000248 0 0 SEMG2 6407 broad.mit.edu 37 20 43851084 43851084 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr20:43851084A>G ENST00000372769.3 + 2 901 c.811A>G c.(811-813)Aaa>Gaa p.K271E NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 271 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ACACCAGACAAAAAATCTCAG 0.418000 29 25 0 0 0.006320 0 0 LRTM1 57408 broad.mit.edu 37 3 54958689 54958689 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:54958689G>T ENST00000273286.5 - 2 723 c.561C>A c.(559-561)caC>caA p.H187Q CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.H111Q|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 187 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GACCGAGCAAGTGGCAATTGC 0.468000 26 60 1.77063e-15 2.88709e-15 0.005443 1 0 STK11IP 114790 broad.mit.edu 37 2 220477903 220477903 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:220477903G>T ENST00000456909.1 + 20 2583 c.2493G>T c.(2491-2493)gtG>gtT p.V831V STK11IP_ENST00000295641.10_Silent_p.V842V Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 842 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGGTTGTGTCTGACCGCA 0.592000 7 38 3.09899e-07 4.00689e-07 0.004482 1 0 FBLN1 2192 broad.mit.edu 37 22 45929726 45929726 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:45929726G>T ENST00000348697.2 + 7 879 c.732G>T c.(730-732)cgG>cgT p.R244R FBLN1_ENST00000442170.2_Silent_p.R244R|FBLN1_ENST00000402984.3_Silent_p.R282R|FBLN1_ENST00000327858.6_Silent_p.R244R|FBLN1_ENST00000262722.7_Silent_p.R244R|FBLN1_ENST00000340923.5_Silent_p.R244R P23142 FBLN1_HUMAN fibulin 1 244 EGF-like 2; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCTGCCAGCGGGACAGCAGCT 0.572000 40 136 1.06522e-23 1.91104e-23 0.003214 1 0 CDC5L 988 broad.mit.edu 37 6 44397514 44397514 + Nonsense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:44397514C>G ENST00000371477.3 + 14 2257 c.1958C>G c.(1957-1959)tCa>tGa p.S653* NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 653 Interaction with DAPK3 (By similarity). cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAGAGCTCTCAAGTGAAGCT 0.428000 15 63 0 0 0.004990 0 0 PAPOLG 64895 broad.mit.edu 37 2 60987422 60987422 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:60987422G>C ENST00000238714.3 + 2 420 c.171G>C c.(169-171)ttG>ttC p.L57F NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 57 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AGGAAGAATTGAACCACAGGT 0.323000 4 40 0 0 0.000602 0 0 RBFOX1 54715 broad.mit.edu 37 16 7703849 7703849 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:7703849G>T ENST00000340209.4 + 9 1102 c.805G>T c.(805-807)Gcg>Tcg p.A269S RBFOX1_ENST00000355637.4_Missense_Mutation_p.A284S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A284S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A307S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A284S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A237S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A221S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A281S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A307S Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 264 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGCCACCGCCGCGGCCGCCTA 0.711000 17 63 2.37509e-13 3.69955e-13 0.001523 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291725 141291725 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:141291725G>T ENST00000247452.3 - 3 396 c.49C>A c.(49-51)Ccg>Acg p.P17T NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 17 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ACTGAGGTCGGGGAGTCGTTG 0.512000 HNSCC(46;0.14) 68 175 9.53695e-23 1.68809e-22 0.003610 1 0 SPATA21 374955 broad.mit.edu 37 1 16725938 16725938 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:16725938C>A ENST00000335496.1 - 12 1735 c.1253G>T c.(1252-1254)aGg>aTg p.R418M SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.R395M NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 418 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCTCGGCTGCCTACGGACCAT 0.597000 13 42 0.000151284 0.00017884 0.001855 1 0 CATSPERD 257062 broad.mit.edu 37 19 5745958 5745958 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:5745958G>T ENST00000381624.3 + 9 753 c.692G>T c.(691-693)cGg>cTg p.R231L CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 231 integral to membrane CCCCTCAACCGGAGTTTCGGG 0.527000 86 143 1.68737e-39 3.18244e-39 0.003610 1 0 TGFBR2 7048 broad.mit.edu 37 3 30713590 30713590 + Silent SNP C C T rs146030104 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:30713590C>T ENST00000295754.5 + 4 1297 c.915C>T c.(913-915)ctC>ctT p.L305L TGFBR2_ENST00000359013.4_Silent_p.L330L NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 305 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 AGAACATACTCCAGTTCCTGA 0.517000 18 64 0 0 0.007413 0 0 OR2W3 343171 broad.mit.edu 37 1 248059225 248059225 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:248059225C>A ENST00000537741.1 + 3 594 c.337C>A c.(337-339)Ctg>Atg p.L113M OR2W3_ENST00000360358.3_Missense_Mutation_p.L113M Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGTGGAGTGCCTGCTTCTGGC 0.572000 19 67 4.35082e-09 6.12817e-09 0.001523 1 0 MEPE 56955 broad.mit.edu 37 4 88766489 88766489 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:88766489C>A ENST00000497649.2 + 6 775 c.397C>A c.(397-399)Cca>Aca p.P133T MEPE_ENST00000540395.1_Missense_Mutation_p.P44T|MEPE_ENST00000395102.4_Missense_Mutation_p.P188T|MEPE_ENST00000361056.3_Missense_Mutation_p.P157T|MEPE_ENST00000424957.3_Missense_Mutation_p.P157T|MEPE_ENST00000560249.1_Missense_Mutation_p.P44T|MEPE_ENST00000508016.1_3'UTR Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 157 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TATAATGGGGCCAGTGACTGC 0.408000 20 29 2.27731e-05 2.7662e-05 0.001882 1 0 PCDH15 65217 broad.mit.edu 37 10 56287577 56287577 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:56287577C>T ENST00000373965.2 - 3 546 c.152G>A c.(151-153)cGg>cAg p.R51Q PCDH15_ENST00000395440.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R51Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R51Q|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395442.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R56Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R51Q|RP11-257I14.1_ENST00000422842.1_RNA NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 51 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTTACCATTCCGACTTTCTTC 0.338000 HNSCC(58;0.16) 8 37 0 0 0.006214 0 0 OR2M5 127059 broad.mit.edu 37 1 248308855 248308855 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:248308855A>T ENST00000366476.1 + 1 406 c.406A>T c.(406-408)Atg>Ttg p.M136L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACCAATCTCATGAGACCCAA 0.448000 67 356 0 0 0.003610 0 0 SRGAP1 57522 broad.mit.edu 37 12 64519823 64519823 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:64519823T>G ENST00000355086.3 + 19 2815 c.2291T>G c.(2290-2292)tTc>tGc p.F764C SRGAP1_ENST00000543397.1_Missense_Mutation_p.F701C|SRGAP1_ENST00000357825.3_Missense_Mutation_p.F741C NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 764 SH3. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) GAACTATCCTTCAAGAAGGGT 0.512000 12 53 0 0 0.000978 0 0 ADH6 130 broad.mit.edu 37 4 100131439 100131439 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:100131439G>T ENST00000394897.1 - 5 449 c.367C>A c.(367-369)Ctg>Atg p.L123M ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.L123M|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.L123M P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 123 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TCAGACATCAGTTGGGTTTTT 0.333000 17 40 4.75885e-15 7.70259e-15 0.004990 1 0 WNT11 7481 broad.mit.edu 37 11 75905828 75905828 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:75905828G>A ENST00000322563.3 - 3 504 c.380C>T c.(379-381)gCc>gTc p.A127V RP11-619A14.2_ENST00000527314.1_RNA NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 127 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 GCAGGCCCGGGCGATGGCGTG 0.736000 4 3 0 0 0.000248 0 0 STARD8 9754 broad.mit.edu 37 X 67937571 67937571 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:67937571C>G ENST00000252336.6 + 5 947 c.575C>G c.(574-576)gCc>gGc p.A192G STARD8_ENST00000374597.3_Missense_Mutation_p.A192G|STARD8_ENST00000374599.3_Missense_Mutation_p.A272G NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 192 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 GGCAGTGGTGCCAATACTCGG 0.622000 27 58 0 0 0.006320 0 0 KIF19 124602 broad.mit.edu 37 17 72347009 72347009 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:72347009C>A ENST00000389916.4 + 12 1690 c.1552C>A c.(1552-1554)Ctg>Atg p.L518M AC103809.2_ENST00000599136.1_Missense_Mutation_p.R101M NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 518 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CATTGCAGCCCTGGTGGACGA 0.612000 51 120 2.23044e-30 4.11295e-30 0.003610 1 0 FBXL13 222235 broad.mit.edu 37 7 102517935 102517935 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:102517935A>G ENST00000393772.2 - 16 2040 c.1614T>C c.(1612-1614)tcT>tcC p.S538S FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Silent_p.S538S|FBXL13_ENST00000436908.1_Silent_p.S538S|FBXL13_ENST00000379305.3_Silent_p.S538S|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Silent_p.S538S|FBXL13_ENST00000313221.4_Silent_p.S538S Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 538 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TGTCTGTTCCAGAGAGATCTA 0.284000 22 27 0 0 0.002780 0 0 TGM6 343641 broad.mit.edu 37 20 2381054 2381054 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr20:2381054G>T ENST00000202625.2 + 7 1014 c.953G>T c.(952-954)gGg>gTg p.G318V TGM6_ENST00000381423.1_Missense_Mutation_p.G318V|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 318 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GACTCCTTCGGGCGGACCCTG 0.617000 27 34 5.77227e-19 9.87401e-19 0.008361 1 0 LATS1 9113 broad.mit.edu 37 6 150004837 150004837 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:150004837T>C ENST00000543571.1 - 4 1935 c.1388A>G c.(1387-1389)aAt>aGt p.N463S LATS1_ENST00000392273.3_Missense_Mutation_p.N463S|LATS1_ENST00000253339.5_Missense_Mutation_p.N463S|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 463 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATTAAAAGAATTTGACCTCAC 0.453000 78 114 0 0 0.003610 0 0 COG6 57511 broad.mit.edu 37 13 40261879 40261879 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:40261879G>T ENST00000416691.1 + 10 1052 c.952G>T c.(952-954)Gct>Tct p.A318S COG6_ENST00000455146.3_Missense_Mutation_p.A318S NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 318 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) GCTCCATCAAGCTACTGCTTC 0.378000 24 48 4.7796e-09 6.68942e-09 0.004656 1 0 GPR50 9248 broad.mit.edu 37 X 150349627 150349627 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:150349627C>A ENST00000218316.3 + 2 1641 c.1572C>A c.(1570-1572)gcC>gcA p.A524A NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 524 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCAAGCCTGCCACTACCAGCC 0.612000 50 176 2.0833e-19 3.58219e-19 0.003610 1 0 DROSHA 29102 broad.mit.edu 37 5 31495408 31495408 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:31495408C>A ENST00000511367.2 - 11 1984 c.1740G>T c.(1738-1740)ccG>ccT p.P580P DROSHA_ENST00000344624.3_Silent_p.P580P|DROSHA_ENST00000442743.1_Silent_p.P543P|DROSHA_ENST00000513349.1_Silent_p.P543P NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 580 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AGTTCGTAGGCGGGGAGACTG 0.383000 10 18 3.86212e-05 4.64859e-05 0.008291 1 0 AURKC 6795 broad.mit.edu 37 19 57744036 57744036 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:57744036G>C ENST00000302804.7 + 4 609 c.423G>C c.(421-423)caG>caC p.Q141H AURKC_ENST00000599062.1_Missense_Mutation_p.Q138H|AURKC_ENST00000415300.2_Missense_Mutation_p.Q122H|AURKC_ENST00000598785.1_Missense_Mutation_p.Q107H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q107H NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 141 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TAGATGAACAGCGCACAGCCA 0.552000 6 40 0 0 0.001168 0 0 CRTAC1 55118 broad.mit.edu 37 10 99771078 99771078 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:99771078G>A ENST00000370597.3 - 2 396 c.41C>T c.(40-42)cCg>cTg p.P14L CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14L NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 14 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CAGCAGGAACGGTAACATCCT 0.512000 16 92 0 0 0.004007 0 0 XYLT1 64131 broad.mit.edu 37 16 17211743 17211743 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:17211743C>A ENST00000261381.6 - 11 2401 c.2317G>T c.(2317-2319)Ggg>Tgg p.G773W NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 773 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGTCCCTTCCCCCACTTCTGC 0.567000 23 64 2.89027e-11 4.26137e-11 0.002299 1 0 SLC10A5 347051 broad.mit.edu 37 8 82607015 82607015 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:82607015C>G ENST00000518568.1 - 1 1394 c.193G>C c.(193-195)Gaa>Caa p.E65Q NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 65 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 TTAGGATCTTCTATTTTCACA 0.368000 28 53 0 0 0.005443 0 0 GPR156 165829 broad.mit.edu 37 3 119886566 119886566 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:119886566C>A ENST00000464295.1 - 10 2203 c.1758G>T c.(1756-1758)atG>atT p.M586I GPR156_ENST00000315843.3_Missense_Mutation_p.M586I|GPR156_ENST00000461057.1_Missense_Mutation_p.M582I Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 586 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TGGAGAGGGGCATCTTTTGGG 0.607000 10 49 4.68919e-08 6.33519e-08 0.008291 1 0 VCX3B 425054 broad.mit.edu 37 X 8434331 8434331 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:8434331G>T ENST00000381032.1 + 3 955 c.648G>T c.(646-648)caG>caT p.Q216H VCX3B_ENST00000440654.2_Missense_Mutation_p.Q166H|VCX3B_ENST00000381029.4_Missense_Mutation_p.Q184H|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.Q186H NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 0 nucleolus NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 CACTGAGTCAGGAGAGCCAGG 0.562000 23 295 2.65835e-16 4.38859e-16 0.007291 1 0 ZNF516 9658 broad.mit.edu 37 18 74091609 74091609 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr18:74091609C>G ENST00000443185.2 - 4 2778 c.2461G>C c.(2461-2463)Gcc>Ccc p.A821P ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCACCGAGGGCAGGCGGGGGG 0.612000 26 49 0 0 0.003954 0 0 KCNT1 57582 broad.mit.edu 37 9 138656985 138656985 + Nonsense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:138656985A>T ENST00000298480.5 + 12 1218 c.1144A>T c.(1144-1146)Aag>Tag p.K382* KCNT1_ENST00000263604.3_Nonsense_Mutation_p.K363*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.K382*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.K363*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.K343*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.K349*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.K363*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.K337* B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 382 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CAGCTCCCTCAAGATCGACCT 0.642000 25 79 0 0 0.002780 0 0 SVEP1 79987 broad.mit.edu 37 9 113173854 113173854 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:113173854T>C ENST00000401783.2 - 37 6473 c.6137A>G c.(6136-6138)tAc>tGc p.Y2046C SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2023C|SVEP1_ENST00000297826.5_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2046 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATCAGAGCAGTAGTAGAATGC 0.552000 11 23 0 0 0.000978 0 0 FRG1B 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 56 0 0 0.001168 0 0 LRRC55 219527 broad.mit.edu 37 11 56954808 56954808 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:56954808C>T ENST00000497933.1 + 2 1027 c.880C>T c.(880-882)Ctg>Ttg p.L294L NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 264 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GGCCTGCCACCTGACCCTGAC 0.582000 18 78 0 0 0.004990 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130831345 130831345 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:130831345C>T ENST00000509018.1 - 13 1633 c.1428G>A c.(1426-1428)cgG>cgA p.R476R RAPGEF6_ENST00000512052.1_Silent_p.R191R|FNIP1_ENST00000514667.1_Silent_p.R526R|RAPGEF6_ENST00000307984.5_Silent_p.R476R|RAPGEF6_ENST00000507093.1_Silent_p.R476R|RAPGEF6_ENST00000308008.6_Silent_p.R476R|RAPGEF6_ENST00000510071.1_Silent_p.R476R|RAPGEF6_ENST00000296859.6_Silent_p.R476R NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 476 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ATAATACAATCCGTGTCACCT 0.358000 5 27 0 0 0.001168 0 0 SCFD2 152579 broad.mit.edu 37 4 53773703 53773703 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:53773703C>T ENST00000401642.3 - 7 1896 c.1763G>A c.(1762-1764)aGg>aAg p.R588K SCFD2_ENST00000388940.4_Intron NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 588 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GGAATCTGGCCTCTCGGGATG 0.403000 37 51 0 0 0.004289 0 0 MPL 4352 broad.mit.edu 37 1 43805148 43805148 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:43805148C>A ENST00000372470.3 + 4 640 c.598C>A c.(598-600)Cct>Act p.P200T MPL_ENST00000413998.2_Missense_Mutation_p.P200T NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 200 Fibronectin type-III 1. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCTGCAGAGGCCTCACTCAGC 0.572000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 29 70 1.16021e-09 1.64819e-09 0.007291 1 0 RIT2 6014 broad.mit.edu 37 18 40503615 40503615 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr18:40503615G>A ENST00000590910.1 - 5 539 c.410C>T c.(409-411)tCa>tTa p.S137L RIT2_ENST00000589109.1_Silent_p.L116L|RIT2_ENST00000282028.4_Silent_p.L116L|RIT2_ENST00000326695.5_Silent_p.L116L Q99578 RIT2_HUMAN Ras-like without CAAX 2 0 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTGAAAAATGAGCTCTTTAA 0.507000 97 138 0 0 0.003610 0 0 DUS3L 56931 broad.mit.edu 37 19 5789498 5789498 + Missense_Mutation SNP C C A rs34998818 by1000genomes TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:5789498C>A ENST00000309061.7 - 3 716 c.620G>T c.(619-621)cGc>cTc p.R207L DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 207 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CAGGCCGTTGCGGATGGACGG 0.721000 5 24 0.000602214 0.000695752 0.000602 1 0 SH3BP1 23616 broad.mit.edu 37 22 38040682 38040682 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:38040682G>T ENST00000599616.1 + 6 465 c.465G>T c.(463-465)aaG>aaT p.K155N Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.K219N|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K219N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.K219N Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 219 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) TTGTTACCAAGGAGGACTCCT 0.587000 38 176 1.30091e-30 2.40559e-30 0.006999 1 0 TNR 7143 broad.mit.edu 37 1 175372666 175372666 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:175372666C>G ENST00000367674.1 - 4 1294 c.586G>C c.(586-588)Ggc>Cgc p.G196R TNR_ENST00000263525.2_Missense_Mutation_p.G196R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 196 Cys-rich.|EGF-like 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CAATTCTTGCCAAACCAGCCT 0.577000 22 134 0 0 0.002299 0 0 RELB 5971 broad.mit.edu 37 19 45540760 45540760 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:45540760C>G ENST00000221452.8 + 12 1602 c.1452C>G c.(1450-1452)ctC>ctG p.L484L RELB_ENST00000540120.1_Silent_p.L484L|RELB_ENST00000505236.1_Silent_p.L481L NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 484 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GGCCTGACCTCCTGGACGATG 0.682000 8 90 0 0 0.003080 0 0 IGFBP3 3486 broad.mit.edu 37 7 45956212 45956212 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:45956212C>T ENST00000275521.6 - 3 818 c.685G>A c.(685-687)Gtg>Atg p.V229M IGFBP3_ENST00000381086.5_Missense_Mutation_p.V132M|IGFBP3_ENST00000381083.4_Missense_Mutation_p.V235M NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 229 Thyroglobulin type-1. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) GGACTCAGCACATTGAGGAAC 0.478000 57 66 0 0 0.003610 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135757176 135757176 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:135757176G>T ENST00000250617.6 - 19 3230 c.2025C>A c.(2023-2025)ggC>ggA p.G675G ARHGEF6_ENST00000370620.1_Silent_p.G521G|ARHGEF6_ENST00000370622.1_Silent_p.G521G|ARHGEF6_ENST00000535227.1_Silent_p.G548G NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 675 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TTGAGCCATGGCCTTGTTGAA 0.423000 20 69 2.98393e-07 3.88087e-07 0.002780 1 0 TXNDC15 79770 broad.mit.edu 37 5 134223588 134223588 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:134223588G>T ENST00000358387.4 + 2 932 c.307G>T c.(307-309)Gac>Tac p.D103Y TXNDC15_ENST00000546290.1_Missense_Mutation_p.D80Y NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 103 cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAAGCTGAGGACAAAGTGAG 0.607000 8 40 0.000442599 0.000513136 0.006214 1 0 L1CAM 3897 broad.mit.edu 37 X 153133826 153133826 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:153133826G>T ENST00000370060.1 - 14 1823 c.1634C>A c.(1633-1635)cCc>cAc p.P545H L1CAM_ENST00000538883.1_Missense_Mutation_p.P547H|L1CAM_ENST00000543994.1_Missense_Mutation_p.P547H|L1CAM_ENST00000370055.1_Missense_Mutation_p.P540H|L1CAM_ENST00000361981.3_Missense_Mutation_p.P540H|L1CAM_ENST00000361699.4_Missense_Mutation_p.P545H|L1CAM_ENST00000370057.3_Missense_Mutation_p.P545H NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 545 Ig-like C2-type 6. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGCAAGGAGGGGTCAAAGGA 0.602000 58 228 1.95512e-22 3.44226e-22 0.003610 1 0 CHRNA10 57053 broad.mit.edu 37 11 3687438 3687438 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:3687438C>A ENST00000250699.2 - 5 1323 c.1252G>T c.(1252-1254)Gac>Tac p.D418Y CHRNA10_ENST00000534359.1_3'UTR NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 418 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) CGCTTCCAGTCCTCATGGCAG 0.637000 15 78 3.45872e-05 4.18587e-05 0.004007 1 0 IMMT 10989 broad.mit.edu 37 2 86371740 86371740 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:86371740C>T ENST00000410111.3 - 15 2315 c.1928G>A c.(1927-1929)cGa>cAa p.R643Q IMMT_ENST00000254636.5_Missense_Mutation_p.R544Q|IMMT_ENST00000449247.2_Missense_Mutation_p.R632Q|IMMT_ENST00000442664.2_Missense_Mutation_p.R642Q|IMMT_ENST00000409051.2_Missense_Mutation_p.R596Q NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 643 integral to mitochondrial inner membrane protein binding p.R643Q(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCTACCCTTCGGGCCAGTTT 0.512000 8 166 0 0 0.004482 0 0 CAPN6 827 broad.mit.edu 37 X 110494310 110494310 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:110494310G>T ENST00000324068.1 - 8 1160 c.993C>A c.(991-993)tgC>tgA p.C331* CAPN6_ENST00000541758.1_Nonsense_Mutation_p.C76* NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 331 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GAAAGTTGCGGCAAAAGTCCT 0.438000 223 394 2.48234e-129 4.77706e-129 0.003610 1 0 XIRP2 129446 broad.mit.edu 37 2 168103850 168103850 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:168103850C>T ENST00000409195.1 + 9 6037 c.5948C>T c.(5947-5949)cCa>cTa p.P1983L XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P1761L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1983L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1808 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGCCAGGTCCATTTGAGCCA 0.473000 26 37 0 0 0.003954 0 0 PDGFC 56034 broad.mit.edu 37 4 157732074 157732074 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:157732074C>T ENST00000502773.1 - 3 900 c.410G>A c.(409-411)gGa>gAa p.G137E PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.G137E|PDGFC_ENST00000542208.1_Intron NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 137 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) AATTTGATTTCCTTTAGAAAT 0.398000 20 28 0 0 0.007413 0 0 SACS 26278 broad.mit.edu 37 13 23913373 23913373 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:23913373C>A ENST00000382298.3 - 10 5230 c.4642G>T c.(4642-4644)Gga>Tga p.G1548* SACS_ENST00000382292.3_Nonsense_Mutation_p.G1548*|SACS_ENST00000402364.1_Nonsense_Mutation_p.G798* NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1548 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCAACTTCTCCCCTTTTTAAA 0.368000 15 42 1.5739e-10 2.28993e-10 0.004007 1 0 ANXA5 308 broad.mit.edu 37 4 122607458 122607458 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:122607458C>A ENST00000296511.5 - 3 364 c.79G>T c.(79-81)Gct>Tct p.A27S ANXA5_ENST00000515017.1_Missense_Mutation_p.A27S|ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 27 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 CCTTTCATAGCCTTCCGAAGA 0.373000 24 43 4.87955e-14 7.76506e-14 0.005443 1 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 5 10 0 0 0.001168 0 0 UBASH3B 84959 broad.mit.edu 37 11 122680461 122680461 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:122680461C>T ENST00000284273.5 + 14 2192 c.1817C>T c.(1816-1818)cCa>cTa p.P606L NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 606 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CTTCAGATCCCATATCTGGGA 0.413000 15 26 0 0 0.002450 0 0 IMMP2L 83943 broad.mit.edu 37 7 111127317 111127317 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:111127317G>T ENST00000405709.2 - 3 658 c.216C>A c.(214-216)caC>caA p.H72Q IMMP2L_ENST00000447215.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000331762.3_Missense_Mutation_p.H72Q|IMMP2L_ENST00000415362.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000452895.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000437687.1_Missense_Mutation_p.H72Q NM_032549.3 NP_115938.1 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 72 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) TGTCACCACGGTGTACTTCAA 0.368000 38 46 2.47872e-24 4.47116e-24 0.002522 1 0 BEND5 79656 broad.mit.edu 37 1 49224778 49224778 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:49224778C>A ENST00000371833.3 - 3 625 c.539G>T c.(538-540)cGg>cTg p.R180L AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 180 large_intestine(5)|lung(2)|skin(1) 8 ATACAGAGCCCGGGGCACCAC 0.622000 25 44 3.08376e-08 4.19189e-08 0.003330 1 0 BMP6 654 broad.mit.edu 37 6 7862567 7862567 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:7862567T>G ENST00000283147.6 + 4 1199 c.1040T>G c.(1039-1041)gTg>gGg p.V347G NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 347 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) GCAGGCCTGGTGGGCAGAGAC 0.557000 22 83 0 0 0.003330 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913188 143913188 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:143913188C>A ENST00000409869.1 + 3 306 c.129C>A c.(127-129)tcC>tcA p.S43S ARHGAP15_ENST00000295095.6_Silent_p.S43S Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 43 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AAAGTAAATCCATGATCCTCA 0.443000 18 32 1.64113e-05 2.00079e-05 0.001523 1 0 HERC2 8924 broad.mit.edu 37 15 28508211 28508211 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:28508211C>G ENST00000261609.7 - 15 2083 c.1975G>C c.(1975-1977)Gtg>Ctg p.V659L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 659 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACTTTGACCACATCCAAGTCT 0.473000 11 51 0 0 0.001368 0 0 CERKL 375298 broad.mit.edu 37 2 182413579 182413579 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:182413579C>G ENST00000410087.3 - 7 1001 c.901G>C c.(901-903)Gta>Cta p.V301L CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.V283L|CERKL_ENST00000374969.2_Missense_Mutation_p.V188L|CERKL_ENST00000374970.2_Missense_Mutation_p.V232L|CERKL_ENST00000339098.5_Missense_Mutation_p.V327L NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 327 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ACCAGCTGTACATGCCCTTGA 0.433000 13 41 0 0 0.002450 0 0 FOXD4 2298 broad.mit.edu 37 9 118065 118065 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:118065C>A ENST00000382500.2 - 1 352 c.55G>T c.(55-57)Gac>Tac p.D19Y NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 19 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CCATCGGAGTCCCGGAGGCTG 0.627000 37 61 8.48111e-28 1.55958e-27 0.003610 1 0 GJA10 84694 broad.mit.edu 37 6 90605647 90605647 + Missense_Mutation SNP C C G rs150458704 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:90605647C>G ENST00000369352.1 + 1 1460 c.1460C>G c.(1459-1461)cCg>cGg p.P487R NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 487 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCAGCCCTACCGATCATGGAA 0.473000 35 96 0 0 0.005524 0 0 LRP2 4036 broad.mit.edu 37 2 169996113 169996113 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:169996113T>C ENST00000263816.3 - 73 13492 c.13207A>G c.(13207-13209)Agc>Ggc p.S4403G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4403 EGF-like 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGTAGCCGCTAGGACACCTG 0.398000 25 102 0 0 0.003330 0 0 MYBPC1 4604 broad.mit.edu 37 12 102071069 102071069 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:102071069G>T ENST00000549145.1 + 27 3124 c.3024G>T c.(3022-3024)ttG>ttT p.L1008F MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L965F|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L963F|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L951F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L977F|MYBPC1_ENST00000550270.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L958F|MYBPC1_ENST00000452455.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L964F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L977F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L878F Q00872 MYPC1_HUMAN myosin binding protein C, slow type 995 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TTACTGAATTGGTCATAGGGA 0.408000 28 57 7.38237e-10 1.05554e-09 0.006320 1 0 FOXN2 3344 broad.mit.edu 37 2 48573727 48573727 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:48573727T>C ENST00000340553.3 + 3 635 c.374T>C c.(373-375)aTt>aCt p.I125T NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 125 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) TATATGGCCATTGAGCACTCT 0.418000 8 182 0 0 0.004482 0 0 KLF5 688 broad.mit.edu 37 13 73649905 73649905 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:73649905G>A ENST00000377687.4 + 4 1791 c.1255G>A c.(1255-1257)Gag>Aag p.E419K KLF5_ENST00000539231.1_Missense_Mutation_p.E328K NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 419 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.E419Q(2) breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GCGATCGGATGAGCTGACCCG 0.592000 14 50 0 0 0.004007 0 0 RGPD4 285190 broad.mit.edu 37 2 108443477 108443477 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:108443477G>A ENST00000408999.3 + 1 85 c.8G>A c.(7-9)tGc>tAc p.C3Y RGPD4_ENST00000354986.4_Missense_Mutation_p.C3Y NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 3 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GCGATGAGTTGCAGCAAGGCC 0.652000 6 12 0 0 0.001984 0 0 TRIM68 55128 broad.mit.edu 37 11 4621864 4621864 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:4621864C>T ENST00000300747.5 - 7 1389 c.1100G>A c.(1099-1101)aGg>aAg p.R367K NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 367 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCACTCAGACCTGTCTCCCAC 0.537000 9 43 0 0 0.006214 0 0 BRCA1 672 broad.mit.edu 37 17 41209101 41209101 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:41209101G>A ENST00000309486.4 - 18 5384 c.4357C>T c.(4357-4359)Cca>Tca p.P1453S BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.P240S|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1770S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1484S|BRCA1_ENST00000352993.3_Missense_Mutation_p.P607S|BRCA1_ENST00000491747.2_Missense_Mutation_p.P645S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1702S|BRCA1_ENST00000586385.1_Missense_Mutation_p.P59S|BRCA1_ENST00000351666.3_Missense_Mutation_p.P566S|BRCA1_ENST00000357654.3_Missense_Mutation_p.P1749S|BRCA1_ENST00000346315.3_Missense_Mutation_p.P1510S|BRCA1_ENST00000468300.1_Missense_Mutation_p.P645S NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1749 Missing (in Ref. 3; AAC00049). androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GCTCGCTTTGGACCTTGGTGG 0.463000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 40 242 0 0 0.002222 0 0 KIF4B 285643 broad.mit.edu 37 5 154394287 154394287 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:154394287G>C ENST00000435029.4 + 1 1028 c.868G>C c.(868-870)Gat>Cat p.D290H NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 290 Kinesin-motor. 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) GCCCTACAGAGATTCCAAGTT 0.443000 65 92 0 0 0.003610 0 0 TNRC18 84629 broad.mit.edu 37 7 5410791 5410791 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:5410791C>A ENST00000399537.4 - 11 3782 c.3434G>T c.(3433-3435)cGg>cTg p.R1145L TNRC18_ENST00000430969.1_Missense_Mutation_p.R1145L O15417 TNC18_HUMAN trinucleotide repeat containing 18 1145 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGGGCCCTCCCGCAGCGGCTC 0.687000 15 15 6.31663e-08 8.44769e-08 0.003163 1 0 PSMB10 5699 broad.mit.edu 37 16 67969891 67969891 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:67969891G>T ENST00000358514.4 - 4 695 c.358C>A c.(358-360)Cgc>Agc p.R120S NM_002801.3 NP_002792.1 P40306 PSB10_HUMAN proteasome (prosome, macropain) subunit, beta type, 10 120 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) CGCAGGATGCGAGTGACCGTG 0.662000 17 17 7.05477e-17 1.18234e-16 0.004990 1 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812784 31812784 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:31812784C>A ENST00000334067.3 + 1 188 c.139C>A c.(139-141)Ctc>Atc p.L47I NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 47 intermediate filament p.L47I(1) kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 GGGCTCCTCTCTCTACAATGG 0.483000 41 83 2.95478e-19 5.06752e-19 0.008740 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237414 140237414 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:140237414G>T ENST00000307360.5 + 1 1781 c.1781G>T c.(1780-1782)cGc>cTc p.R594L PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTAAGGTGCGCGCAGTGGAC 0.672000 5 30 8.12818e-05 9.6778e-05 0.001984 1 0 SLC22A16 85413 broad.mit.edu 37 6 110746269 110746269 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:110746269G>T ENST00000368919.3 - 8 1607 c.1541C>A c.(1540-1542)gCc>gAc p.A514D SLC22A16_ENST00000330550.4_Missense_Mutation_p.A480D NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 514 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ACTCAGGAGGGCCATAGTCCC 0.423000 16 42 3.41278e-10 4.93289e-10 0.004990 1 0 TSIX 9383 broad.mit.edu 37 X 73044698 73044698 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:73044698C>A ENST00000604411.1 + 0 32659 XIST_ENST00000429829.1_lincRNA NR_003255.2 ATATATCATTCCTTACATCTG 0.308000 12 43 6.40141e-05 7.64934e-05 0.000978 1 0 NOS2 4843 broad.mit.edu 37 17 26109099 26109099 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:26109099C>T ENST00000313735.6 - 7 897 c.664G>A c.(664-666)Gaa>Aaa p.E222K NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 222 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCAAACATTTCCCGGGCAGTG 0.557000 11 40 0 0 0.000978 0 0 TAF1L 138474 broad.mit.edu 37 9 32635171 32635171 + Nonsense_Mutation SNP G G T rs139816850 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:32635171G>T ENST00000242310.4 - 1 496 c.407C>A c.(406-408)tCg>tAg p.S136* RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 136 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATCATAATCCGAGTGGTAAAG 0.478000 40 106 7.63091e-17 1.27567e-16 0.007835 1 0 MAPK8IP1 9479 broad.mit.edu 37 11 45925561 45925561 + Silent SNP C C T rs144563506 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:45925561C>T ENST00000395629.2 + 7 1815 c.1485C>T c.(1483-1485)gaC>gaT p.D495D MAPK8IP1_ENST00000241014.2_Silent_p.D505D Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 505 SH3. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GACACGAAGACGAACTTGAGC 0.592000 20 95 0 0 0.008871 0 0 RBM44 375316 broad.mit.edu 37 2 238742712 238742712 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:238742712C>A ENST00000316997.4 + 14 3094 c.2962C>A c.(2962-2964)Cca>Aca p.P988T RBM44_ENST00000409864.1_Missense_Mutation_p.P988T NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 987 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ATTCATACCTCCAAATACATT 0.338000 8 11 3.09899e-07 4.00689e-07 0.004482 1 0 CNTN1 1272 broad.mit.edu 37 12 41365291 41365291 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:41365291T>C ENST00000547849.1 + 16 2179 c.1860T>C c.(1858-1860)tgT>tgC p.C620C CNTN1_ENST00000547702.1_Silent_p.C620C|CNTN1_ENST00000360099.3_Silent_p.C620C|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000551295.2_Intron NM_001256064.1 NP_001242993.1 Q12860 CNTN1_HUMAN contactin 1 0 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCCCCGTCTGTGCAAGCCTGC 0.418000 6 35 0 0 0.001168 0 0 OR7A5 26659 broad.mit.edu 37 19 14938756 14938756 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:14938756G>T ENST00000322301.3 - 2 385 c.298C>A c.(298-300)Cag>Aag p.Q100K OR7A5_ENST00000594432.1_Missense_Mutation_p.Q100K|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 AAATACATCTGCATGAGGCAG 0.453000 22 102 3.8784e-16 6.37098e-16 0.001882 1 0 KIF21B 23046 broad.mit.edu 37 1 200961498 200961498 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:200961498A>T ENST00000332129.2 - 16 2613 c.2297T>A c.(2296-2298)aTg>aAg p.M766K KIF21B_ENST00000360529.5_Missense_Mutation_p.M766K|KIF21B_ENST00000461742.2_Missense_Mutation_p.M766K|KIF21B_ENST00000422435.2_Missense_Mutation_p.M766K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 766 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCCTCACGCATCTGCTTCAT 0.642000 20 74 0 0 0.004656 0 0 TLR7 51284 broad.mit.edu 37 X 12904321 12904321 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:12904321C>G ENST00000380659.3 + 3 833 c.694C>G c.(694-696)Ctc>Gtc p.L232V NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 232 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.L232I(1) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AGAACTATATCTCTACAACAA 0.358000 12 50 0 0 0.001368 0 0 DEPTOR 64798 broad.mit.edu 37 8 121021283 121021283 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:121021283G>T ENST00000286234.5 + 8 1142 c.1012G>T c.(1012-1014)Gtt>Ttt p.V338F DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.V237F NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 338 PDZ. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 TGGTGACGCGGTTGGCTGGGG 0.547000 7 45 0.000274275 0.000319666 0.004482 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99358197 99358197 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:99358197G>A ENST00000408927.3 + 14 1787 c.1674G>A c.(1672-1674)ctG>ctA p.L558L RAP1GDS1_ENST00000339360.5_Silent_p.L559L|RAP1GDS1_ENST00000380158.4_Silent_p.L510L|RAP1GDS1_ENST00000408900.3_Silent_p.L509L|RAP1GDS1_ENST00000453712.2_Silent_p.L558L|RAP1GDS1_ENST00000264572.7_Silent_p.L467L NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 558 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) CCATGGTCCTGATATGTGCTC 0.323000 T NUP98 T-ALL 5 25 0 0 0.000602 0 0 SPRR1A 6698 broad.mit.edu 37 1 152957747 152957747 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:152957747C>A ENST00000307122.2 + 2 105 c.41C>A c.(40-42)cCt>cAt p.P14H SPRR1A_ENST00000368762.1_Missense_Mutation_p.P14H NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A 14 2 X 12 AA approximate repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCCACCCCCTCAGCCTCAG 0.522000 45 120 5.2432e-18 8.9e-18 0.003610 1 0 PRMT10 90826 broad.mit.edu 37 4 148575513 148575513 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:148575513T>A ENST00000322396.6 - 9 1777 c.1535A>T c.(1534-1536)gAt>gTt p.D512V PRMT10_ENST00000541232.1_Missense_Mutation_p.D399V|TMEM184C_ENST00000508208.1_Intron NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 512 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 CTCTACAGCATCTGGTTTACT 0.383000 26 46 0 0 0.004656 0 0 CYP27B1 1594 broad.mit.edu 37 12 58160787 58160787 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:58160787T>C ENST00000228606.4 - 1 247 c.38A>G c.(37-39)cAt>cGt p.H13R RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 13 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GCGGACGCGATGGAACACTCT 0.617000 24 132 0 0 0.003954 0 0 HEPH 9843 broad.mit.edu 37 X 65427105 65427105 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:65427105G>C ENST00000519389.1 + 14 2701 c.2522G>C c.(2521-2523)aGg>aCg p.R841T HEPH_ENST00000343002.2_Missense_Mutation_p.R787T|HEPH_ENST00000441993.2_Missense_Mutation_p.R790T|HEPH_ENST00000336279.5_Missense_Mutation_p.R520T|HEPH_ENST00000374727.3_Missense_Mutation_p.R790T|HEPH_ENST00000419594.1_Missense_Mutation_p.R598T Q9BQS7 HEPH_HUMAN hephaestin 787 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCTGTATTCAGGGAATACACT 0.463000 22 51 0 0 0.002299 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107035126 107035126 + RNA SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:107035126C>G ENST00000390626.2 - 0 95 CCTTGGAGAACAGCCAGGAGG 0.577000 7 7 0 0 0.003080 0 0 ZNF195 7748 broad.mit.edu 37 11 3381280 3381280 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:3381280T>A ENST00000354599.6 - 4 846 c.742A>T c.(742-744)Att>Ttt p.I248F ZNF195_ENST00000005082.9_Missense_Mutation_p.I297F|ZNF195_ENST00000429541.2_Missense_Mutation_p.I252F|ZNF195_ENST00000343338.7_Missense_Mutation_p.I252F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Missense_Mutation_p.I320F|ZNF195_ENST00000526601.1_Missense_Mutation_p.I301F|ZNF195_ENST00000438262.2_3'UTR NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CCGGCATAAATTCTATTTTTA 0.393000 19 105 0 0 0.006122 0 0 OR6K2 81448 broad.mit.edu 37 1 158669868 158669868 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:158669868C>A ENST00000359610.2 - 1 618 c.575G>T c.(574-576)cGa>cTa p.R192L NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GACGATGGCTCGTGTGTCTGT 0.473000 28 70 7.41945e-09 1.0297e-08 0.005443 1 0 FGD1 2245 broad.mit.edu 37 X 54482964 54482964 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:54482964G>A ENST00000375135.3 - 9 2406 c.1673C>T c.(1672-1674)tCg>tTg p.S558L NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 558 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGCAGCATTCGAGTGCTCTGC 0.602000 4 46 0 0 0.001168 0 0 RASA3 22821 broad.mit.edu 37 13 114748770 114748770 + Silent SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:114748770A>T ENST00000334062.7 - 24 2614 c.2493T>A c.(2491-2493)acT>acA p.T831T RASA3_ENST00000389544.4_Silent_p.T799T NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 831 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AAATGGAATGAGTGGAGGTCT 0.592000 24 59 0 0 0.002836 0 0 LILRB3 11025 broad.mit.edu 37 19 54721011 54721011 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:54721011C>T ENST00000391750.1 - 14 1983 c.1847G>A c.(1846-1848)gGg>gAg p.G616E LILRB3_ENST00000407860.2_Missense_Mutation_p.G633E|LILRB3_ENST00000245620.9_Missense_Mutation_p.G617E|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.G617E|LILRA6_ENST00000440558.2_Missense_Mutation_p.G616E|LILRA6_ENST00000270464.5_Missense_Mutation_p.G617E|LILRB3_ENST00000346401.6_Missense_Mutation_p.G628E|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.G616E O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 616 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGAGGTTCCCCTTCCTGGGA 0.617000 11 63 0 0 0.008291 0 0 ZHX2 22882 broad.mit.edu 37 8 123965171 123965171 + Missense_Mutation SNP A A C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:123965171A>C ENST00000314393.4 + 3 2256 c.1421A>C c.(1420-1422)gAg>gCg p.E474A NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 474 Required for interaction with NFYA. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CGGCTCATCGAGGTGACTGGC 0.562000 4 44 0 0 0.000248 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12844441 12844441 + Splice_Site SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:12844441G>T ENST00000379672.5 + 8 951 c.651_splice c.e8+1 p.T217_splice ARHGAP44_ENST00000262444.9_Splice_Site_p.T217_splice|ARHGAP44_ENST00000340825.3_Splice_Site_p.T217_splice NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 217 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 ACTTTCAAACGGTAAGTGCCC 0.403000 22 29 2.21704e-12 3.35853e-12 0.002780 1 0 DNAH7 56171 broad.mit.edu 37 2 196729424 196729424 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:196729424C>A ENST00000312428.6 - 41 7055 c.6955G>T c.(6955-6957)Gcc>Tcc p.A2319S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2319 AAA 4 (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 TGCTCTATGGCAAATCGAAAC 0.448000 26 88 1.64293e-13 2.58343e-13 0.003330 1 0 CLK4 57396 broad.mit.edu 37 5 178050304 178050304 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:178050304T>C ENST00000316308.4 - 2 282 c.114A>G c.(112-114)caA>caG p.Q38Q CLK4_ENST00000520957.1_Silent_p.Q38Q NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 38 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) GCCTGTTCTCTTGTGTGCTAC 0.388000 12 71 0 0 0.002450 0 0 CCKBR 887 broad.mit.edu 37 11 6292657 6292657 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:6292657C>A ENST00000525462.1 + 4 1438 c.1435C>A c.(1435-1437)Ccc>Acc p.P479T CCKBR_ENST00000334619.2_Missense_Mutation_p.P410T|CCKBR_ENST00000532715.1_Missense_Mutation_p.P326T P32239 GASR_HUMAN cholecystokinin B receptor 410 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TCGCTGCTGCCCCCGGCCTCC 0.642000 12 75 1.08611e-07 1.43801e-07 0.000978 1 0 ASTL 431705 broad.mit.edu 37 2 96789754 96789754 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:96789754A>G ENST00000342380.2 - 9 1130 c.1131T>C c.(1129-1131)ggT>ggC p.G377G NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 377 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CACCGGGGGCACCTGCTCCAG 0.627000 18 86 0 0 0.004990 0 0 ERCC5 2073 broad.mit.edu 37 13 103527858 103527858 + Nonsense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:103527858C>T ENST00000355739.4 + 15 4589 c.3166C>T c.(3166-3168)Cag>Tag p.Q1056* ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Nonsense_Mutation_p.Q289* NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGAAAAACCCAGAAGAGAGG 0.408000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 25 103 0 0 0.003330 0 0 IL21R 50615 broad.mit.edu 37 16 27460293 27460293 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:27460293C>A ENST00000337929.3 + 9 1779 c.1306C>A c.(1306-1308)Cct>Act p.P436T IL21R_ENST00000395755.1_Missense_Mutation_p.P436T|IL21R_ENST00000564089.1_Missense_Mutation_p.P436T|IL21R_ENST00000395754.4_Missense_Mutation_p.P436T|IL21R-AS1_ENST00000563191.1_RNA NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 436 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 AGCTGGCAGCCCTGGGCTAGG 0.672000 T BCL6 NHL 28 61 1.75199e-13 2.73541e-13 0.007291 1 0 ALS2 57679 broad.mit.edu 37 2 202611466 202611466 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:202611466G>A ENST00000264276.6 - 9 2193 c.1821C>T c.(1819-1821)agC>agT p.S607S NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 607 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CATTTTCACTGCTTATCTGCA 0.443000 22 119 0 0 0.002299 0 0 HCN1 348980 broad.mit.edu 37 5 45262862 45262862 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:45262862C>A ENST00000303230.4 - 8 1891 c.1834G>T c.(1834-1836)Ggt>Tgt p.G612C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 612 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTGAAAACACCAGTGTTCAGA 0.413000 11 50 2.80697e-09 3.96208e-09 0.000978 1 0 LRP1B 53353 broad.mit.edu 37 2 141114000 141114000 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:141114000T>A ENST00000389484.3 - 75 12412 c.11441A>T c.(11440-11442)gAt>gTt p.D3814V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3814 EGF-like 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATATGCATCATCTCCACATGG 0.338000 TSP Lung(27;0.18) 24 55 0 0 0.002780 0 0 DCDC1 341019 broad.mit.edu 37 11 30942330 30942330 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:30942330C>G ENST00000597505.1 - 23 3285 c.3286G>C c.(3286-3288)Gaa>Caa p.E1096Q DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E175Q P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TACAGAATTTCACTGGAAGCA 0.438000 12 27 0 0 0.001855 0 0 INTU 27152 broad.mit.edu 37 4 128577843 128577843 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:128577843G>T ENST00000335251.5 + 3 838 c.735G>T c.(733-735)gaG>gaT p.E245D INTU_ENST00000296461.5_Missense_Mutation_p.E245D NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 245 PDZ. breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AAAACATCGAGAGAGTTCTGT 0.313000 14 31 1.99824e-07 2.61429e-07 0.004990 1 0 MUC16 94025 broad.mit.edu 37 19 9014562 9014562 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:9014562T>A ENST00000397910.4 - 31 38616 c.38413A>T c.(38413-38415)Acc>Tcc p.T12805S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12807 SEA 5. Missing (in Ref. 3; AAK74120). 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 CTGTCCAGGGTGTAGGGACCC 0.557000 93 136 0 0 0.003610 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35940505 35940505 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:35940505T>C ENST00000325722.3 - 5 1150 c.916A>G c.(916-918)Ata>Gta p.I306V NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 306 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTTCCTTTATAACTGGAAAC 0.363000 5 53 0 0 0.000602 0 0 NLRP3 114548 broad.mit.edu 37 1 247588839 247588839 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:247588839C>A ENST00000366497.2 + 4 2874 c.2094C>A c.(2092-2094)ggC>ggA p.G698G NLRP3_ENST00000366496.2_Silent_p.G698G|NLRP3_ENST00000348069.2_Silent_p.G698G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Silent_p.G698G|NLRP3_ENST00000391827.2_Silent_p.G698G|NLRP3_ENST00000391828.3_Silent_p.G698G NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 698 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AAAAGGAAGGCCGACACCTTG 0.527000 8 37 0.000442599 0.000513136 0.006214 1 0 TGM7 116179 broad.mit.edu 37 15 43568737 43568737 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:43568737C>A ENST00000452443.2 - 13 2053 c.2049G>T c.(2047-2049)caG>caT p.Q683H NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 683 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GAACCTGGAGCTGGCGGGGTC 0.582000 30 99 1.45844e-13 2.29877e-13 0.002836 1 0 SV2A 9900 broad.mit.edu 37 1 149877572 149877572 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:149877572G>A ENST00000369146.3 - 12 2395 c.1905C>T c.(1903-1905)tcC>tcT p.S635S SV2A_ENST00000369145.1_Silent_p.S635S NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 635 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGGAGACACAGGACATCACGC 0.592000 12 49 0 0 0.001368 0 0 MCAM 4162 broad.mit.edu 37 11 119182596 119182596 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:119182596C>T ENST00000392814.1 - 5 1783 c.1054G>A c.(1054-1056)Ggc>Agc p.G352S MCAM_ENST00000264036.4_Missense_Mutation_p.G403S P43121 MUC18_HUMAN melanoma cell adhesion molecule 403 Ig-like C2-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CGATAGCCGCCTCCTGCCTCC 0.617000 51 75 0 0 0.003610 0 0 OR10G8 219869 broad.mit.edu 37 11 123901174 123901174 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:123901174T>C ENST00000431524.1 + 1 878 c.845T>C c.(844-846)cTc>cCc p.L282P NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACGCCCCTTCTCAACCCTGTT 0.498000 17 95 0 0 0.006122 0 0 EDAR 10913 broad.mit.edu 37 2 109524389 109524389 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:109524389G>A ENST00000409271.1 - 10 1429 c.986C>T c.(985-987)tCc>tTc p.S329F EDAR_ENST00000258443.2_Missense_Mutation_p.S297F|EDAR_ENST00000376651.1_Missense_Mutation_p.S329F Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 297 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CAGCTCCGGGGAGCCCTGCTT 0.617000 7 66 0 0 0.001984 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543152 133543152 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:133543152C>A ENST00000409261.1 - 14 1605 c.1232G>T c.(1231-1233)cGa>cTa p.R411L NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R411L NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 411 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TAACACTTTTCGCTTCTGTAG 0.413000 9 103 1.33987e-11 1.99325e-11 0.008291 1 0 NUP188 23511 broad.mit.edu 37 9 131750354 131750354 + Nonsense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:131750354C>T ENST00000372577.2 + 24 2443 c.2422C>T c.(2422-2424)Cag>Tag p.Q808* NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 808 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GGGGCAGGGCCAGCTGCTGAT 0.502000 37 138 0 0 0.005524 0 0 TIAM1 7074 broad.mit.edu 37 21 32638519 32638519 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:32638519C>G ENST00000286827.3 - 5 1241 c.770G>C c.(769-771)tGt>tCt p.C257S TIAM1_ENST00000541036.1_Missense_Mutation_p.C257S|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 257 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CAAATTCCGACAGTAGCCTGC 0.493000 39 77 0 0 0.008740 0 0 SCN5A 6331 broad.mit.edu 37 3 38645303 38645303 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:38645303C>G ENST00000413689.1 - 12 1983 c.1790G>C c.(1789-1791)tGc>tCc p.C597S SCN5A_ENST00000423572.2_Missense_Mutation_p.C597S|SCN5A_ENST00000425664.1_Missense_Mutation_p.C597S|SCN5A_ENST00000414099.2_Missense_Mutation_p.C597S|SCN5A_ENST00000333535.4_Missense_Mutation_p.C597S|SCN5A_ENST00000451551.2_Missense_Mutation_p.C597S|SCN5A_ENST00000450102.2_Missense_Mutation_p.C597S|SCN5A_ENST00000449557.2_Missense_Mutation_p.C597S|SCN5A_ENST00000443581.1_Missense_Mutation_p.C597S|SCN5A_ENST00000455624.2_Missense_Mutation_p.C597S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 597 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) CACCCCATTGCAGTCCACAGT 0.667000 31 127 0 0 0.002096 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G C rs28392876 by1000genomes TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:16946438G>C ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 4 21 0 0 0.000248 0 0 SLC4A1 6521 broad.mit.edu 37 17 42328949 42328949 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:42328949G>C ENST00000262418.6 - 18 2474 c.2319C>G c.(2317-2319)tcC>tcG p.S773S NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 773 Membrane (anion exchange). S -> P (in AR-dRTA; with normal red cell morphology). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCATGAGGATGGACAGGCCTG 0.627000 11 34 0 0 0.000978 0 0 AFF3 3899 broad.mit.edu 37 2 100210239 100210239 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:100210239C>T ENST00000317233.4 - 14 2119 c.1884G>A c.(1882-1884)agG>agA p.R628R AFF3_ENST00000356421.2_Silent_p.R653R|AFF3_ENST00000409579.1_Silent_p.R653R|AFF3_ENST00000409236.1_Silent_p.R628R NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 628 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGCCACAGGGCCTGGTTTTGG 0.721000 22 48 0 0 0.003330 0 0 SLC22A2 6582 broad.mit.edu 37 6 160668324 160668324 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:160668324T>A ENST00000366952.1 - 7 2267 c.786A>T c.(784-786)atA>atT p.I262I SLC22A2_ENST00000366953.3_Silent_p.I283I|SLC22A2_ENST00000491092.1_5'UTR O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 283 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAGACTCAGGTATGCACCTAG 0.448000 6 61 0 0 0.001168 0 0 HERC2 8924 broad.mit.edu 37 15 28420692 28420692 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:28420692G>A ENST00000261609.7 - 64 9905 c.9797C>T c.(9796-9798)gCc>gTc p.A3266V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3266 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCAGTGCAGGGCCCCGACAGC 0.642000 7 17 0 0 0.001984 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765838 27765838 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:27765838C>A ENST00000451261.2 + 5 1225 c.826C>A c.(826-828)Cag>Aag p.Q276K NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TAATGTCTTCCAGGCCAAGTT 0.498000 10 14 1.76689e-08 2.42171e-08 0.006214 1 0 PUS7L 83448 broad.mit.edu 37 12 44124184 44124184 + Missense_Mutation SNP C C A rs142156360 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:44124184C>A ENST00000416848.2 - 9 2589 c.2101G>T c.(2101-2103)Gtt>Ttt p.V701F PUS7L_ENST00000551923.1_Missense_Mutation_p.V701F|PUS7L_ENST00000344862.5_Missense_Mutation_p.V701F|PUS7L_ENST00000431332.3_Missense_Mutation_p.V388F NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 701 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CAGTTTTAAACGTCATGCTTC 0.373000 13 16 5.50884e-06 6.82931e-06 0.001368 1 0 ITGA9 3680 broad.mit.edu 37 3 37536030 37536030 + Nonsense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:37536030C>T ENST00000264741.5 + 5 839 c.583C>T c.(583-585)Cag>Tag p.Q195* ITGA9_ENST00000422441.1_Nonsense_Mutation_p.Q195* NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 195 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CGGCTCCTGCCAGGCTGGGAT 0.517000 11 27 0 0 0.000978 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348293 30348293 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:30348293G>T ENST00000327564.7 + 1 270 c.209G>T c.(208-210)gGg>gTg p.G70V LRRC37B_ENST00000584368.1_Missense_Mutation_p.G55V|LRRC37B_ENST00000341671.7_Missense_Mutation_p.G43V|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.G43V Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 43 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AACCCCCTGGGGCCACCTGAG 0.622000 25 117 4.26978e-12 6.43871e-12 0.003330 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19560137 19560137 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:19560137C>A ENST00000397821.3 - 16 2088 c.1798G>T c.(1798-1800)Gag>Tag p.E600* SH3KBP1_ENST00000379716.1_Nonsense_Mutation_p.E362*|SH3KBP1_ENST00000541422.1_Nonsense_Mutation_p.E339*|SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.E563* NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 600 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GCCGCAGGCTCCATCTTTGGT 0.617000 15 127 3.35478e-16 5.52453e-16 0.003163 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84608884 84608884 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:84608884G>A ENST00000344803.2 + 4 3546 c.3499G>A c.(3499-3501)Gga>Aga p.G1167R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CAGCAAGTCAGGAAGCTGCTC 0.413000 7 28 0 0 0.001984 0 0 ENPEP 2028 broad.mit.edu 37 4 111474593 111474593 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:111474593G>T ENST00000265162.5 + 18 2966 c.2624G>T c.(2623-2625)tGg>tTg p.W875L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 875 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CAACTCAACTGGGACTATCTA 0.398000 38 68 3.43241e-23 6.10822e-23 0.002222 1 0 OR4A47 403253 broad.mit.edu 37 11 48510913 48510913 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:48510913C>A ENST00000446524.1 + 1 645 c.569C>A c.(568-570)aCc>aAc p.T190N NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGCACTGACACCCATGCTATT 0.438000 28 107 3.73148e-12 5.63981e-12 0.007291 1 0 QTRT1 81890 broad.mit.edu 37 19 10823446 10823446 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:10823446G>C ENST00000250237.5 + 8 884 c.874G>C c.(874-876)Gcc>Ccc p.A292P NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 292 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CTTTGGCTCTGCCCTGGTGCC 0.622000 29 114 0 0 0.004878 0 0 KDR 3791 broad.mit.edu 37 4 55972944 55972944 + Nonsense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:55972944A>T ENST00000263923.4 - 11 1741 c.1446T>A c.(1444-1446)tgT>tgA p.C482* NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 482 Ig-like C2-type 5. C -> R (in HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced and KDR activity is increased compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation predicts to result in loss-of-function and disruption of the normal association of these molecules; dbSNP:rs34231037). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCCATTCTTCACAAGGGTATG 0.338000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 42 0 0 0.001168 0 0 PNPLA7 375775 broad.mit.edu 37 9 140356475 140356475 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:140356475C>A ENST00000406427.1 - 32 4000 c.3664G>T c.(3664-3666)Ggg>Tgg p.G1222W PNPLA7_ENST00000277531.4_Missense_Mutation_p.G1197W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G803W NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1197 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ACCGTGCGCCCGTGCTGGTAG 0.672000 7 10 5.18039e-06 6.45842e-06 0.003080 1 0 ST8SIA5 29906 broad.mit.edu 37 18 44260100 44260100 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr18:44260100C>A ENST00000315087.7 - 7 1696 c.1036G>T c.(1036-1038)Ggc>Tgc p.G346C ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382C|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315C NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 346 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GCGTGGAAGCCGGGACGCGGC 0.607000 30 47 2.47511e-08 3.37839e-08 0.008361 1 0 SGIP1 84251 broad.mit.edu 37 1 67195021 67195021 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:67195021C>A ENST00000371037.4 + 20 1894 c.1817C>A c.(1816-1818)cCg>cAg p.P606Q SGIP1_ENST00000371035.3_Missense_Mutation_p.P396Q|SGIP1_ENST00000371036.3_Missense_Mutation_p.P408Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.P637Q|SGIP1_ENST00000435165.2_Missense_Mutation_p.P111Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.P409Q NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 606 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GCCAACAACCCGTCCCCAGCT 0.453000 36 92 4.11147e-13 6.34451e-13 0.003755 1 0 SPTBN5 51332 broad.mit.edu 37 15 42143102 42143102 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:42143102G>T ENST00000320955.6 - 66 11098 c.10871C>A c.(10870-10872)cCg>cAg p.P3624Q NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3624 PH. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTCTTCGGACGGTGCTGCAAA 0.682000 3 6 0.000602214 0.000695752 0.000602 1 0 SLC25A36 55186 broad.mit.edu 37 3 140692765 140692765 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:140692765G>T ENST00000446041.2 + 6 885 c.660G>T c.(658-660)gtG>gtT p.V220V SLC25A36_ENST00000324194.6_Silent_p.V220V|SLC25A36_ENST00000453248.2_Silent_p.V194V NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 220 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 AAGAGTCTGTGAAAGAAGCAT 0.348000 14 18 4.3838e-07 5.65707e-07 0.001855 1 0 CECR1 51816 broad.mit.edu 37 22 17684454 17684454 + Splice_Site SNP G G C rs148936893 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:17684454G>C ENST00000399839.1 - 4 1022 c.753_splice c.e4+1 p.P251_splice CECR1_ENST00000399837.2_Splice_Site_p.P251_splice|CECR1_ENST00000262607.3_Splice_Site_p.P251_splice|CECR1_ENST00000449907.2_Splice_Site_p.P209_splice Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 251 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TGGGCTCACCGGCAGCAGCCT 0.532000 8 28 0 0 0.003080 0 0 NOP56 10528 broad.mit.edu 37 20 2637485 2637485 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr20:2637485G>C ENST00000329276.5 + 10 1741 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 409 Nop. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GTCCTTCTATGAGACTGGAGA 0.512000 15 64 0 0 0.002450 0 0 C7 730 broad.mit.edu 37 5 40945382 40945382 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:40945382C>T ENST00000313164.9 + 7 1009 c.650C>T c.(649-651)tCa>tTa p.S217L NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 217 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAACACACATCATCTAGTCGG 0.303000 5 29 0 0 0.000602 0 0 GPR31 2853 broad.mit.edu 37 6 167570401 167570401 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:167570401C>G ENST00000366834.1 - 1 1416 c.919G>C c.(919-921)Gca>Cca p.A307P NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 307 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GGGGGCTCTGCTGCCTGCCCT 0.557000 4 48 0 0 0.000248 0 0 DNAH5 1767 broad.mit.edu 37 5 13885257 13885257 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:13885257T>A ENST00000265104.4 - 19 2928 c.2824A>T c.(2824-2826)Acg>Tcg p.T942S CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 942 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) TTTTTCCTCGTGACTGTCGTC 0.418000 Kartagener syndrome 23 53 0 0 0.002780 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501930 90501930 + Missense_Mutation SNP G G T rs140371966 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:90501930G>T ENST00000325643.5 + 4 2594 c.2528G>T c.(2527-2529)tGt>tTt p.C843F NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GTAAGGTTCTGTGTGAGGCAC 0.577000 12 32 2.27111e-07 2.9596e-07 0.001368 1 0 GPR162 27239 broad.mit.edu 37 12 6933684 6933684 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:6933684G>T ENST00000311268.3 + 2 1407 c.620G>T c.(619-621)tGg>tTg p.W207L GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 207 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CAGACACTGTGGGCCCGGCCC 0.652000 14 77 2.61681e-11 3.87546e-11 0.002450 1 0 AMPD1 270 broad.mit.edu 37 1 115220608 115220608 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:115220608C>A ENST00000369538.3 - 8 1281 c.1234G>T c.(1234-1236)Gga>Tga p.G412* AMPD1_ENST00000353928.6_Nonsense_Mutation_p.G383*|AMPD1_ENST00000520113.2_Nonsense_Mutation_p.G416* NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 383 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCACTTGCTCCTACAGGATTA 0.423000 19 46 0.00074312 0.000855557 0.006122 1 0 F8 2157 broad.mit.edu 37 X 154197711 154197711 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:154197711G>T ENST00000360256.4 - 7 1104 c.904C>A c.(904-906)Cag>Aag p.Q302K NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 302 F5/8 type A 1.|Plastocyanin-like 2. Missing (in HEMA). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGGACGCCTGGCGATGGTTC 0.458000 51 129 1.21353e-23 2.17124e-23 0.003610 1 0 PCMTD1 115294 broad.mit.edu 37 8 52733173 52733173 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:52733173C>G ENST00000360540.5 - 7 1218 c.812G>C c.(811-813)aGg>aCg p.R271T PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271T NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 271 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity p.R271M(2) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GGGTGGAGCCCTTTGAGGAAT 0.423000 6 169 0 0 0.001984 0 0 DMWD 1762 broad.mit.edu 37 19 46289893 46289893 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:46289893G>C ENST00000270223.6 - 3 906 c.861C>G c.(859-861)ctC>ctG p.L287L DMWD_ENST00000377735.3_Silent_p.L287L NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 287 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CGAACTCGTTGAGGGGCCCCT 0.667000 4 35 0 0 0.000248 0 0 FLCN 201163 broad.mit.edu 37 17 17117142 17117142 + Nonsense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:17117142T>A ENST00000285071.4 - 14 2021 c.1567A>T c.(1567-1569)Aag>Tag p.K523* RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 523 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CTGTCCACCTTGGTGAACTTA 0.522000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 33 93 0 0 0.003271 0 0 IRX1 79192 broad.mit.edu 37 5 3599534 3599534 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:3599534G>A ENST00000302006.3 + 2 524 c.472G>A c.(472-474)Ggc>Agc p.G158S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCCCACCAAGGGCGAGAAGAT 0.637000 15 94 0 0 0.004990 0 0 MICAL3 57553 broad.mit.edu 37 22 18384718 18384718 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:18384718G>A ENST00000441493.2 - 5 969 c.617C>T c.(616-618)cCc>cTc p.P206L MICAL3_ENST00000383094.3_Missense_Mutation_p.P206L|MICAL3_ENST00000585038.1_Missense_Mutation_p.P206L|MICAL3_ENST00000400561.2_Missense_Mutation_p.P206L|MICAL3_ENST00000429452.1_Missense_Mutation_p.P206L|MICAL3_ENST00000207726.7_Missense_Mutation_p.P206L|MICAL3_ENST00000444520.1_Missense_Mutation_p.P206L|MICAL3_ENST00000414725.2_Missense_Mutation_p.P206L NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 206 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ATGAGTCTTGGGGTGCACCAG 0.532000 5 30 0 0 0.001168 0 0 FOXM1 2305 broad.mit.edu 37 12 2968029 2968029 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:2968029A>G ENST00000342628.2 - 10 2294 c.2181T>C c.(2179-2181)ttT>ttC p.F727F ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Silent_p.F689F|FOXM1_ENST00000361953.3_Silent_p.F674F NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 689 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) AAGAGTTGCCAAAGGGGACGG 0.567000 8 60 0 0 0.003080 0 0 TOR1B 27348 broad.mit.edu 37 9 132566477 132566477 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr9:132566477G>T ENST00000259339.2 + 2 385 c.325G>T c.(325-327)Ggc>Tgc p.G109C TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 109 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) TTCCTTACACGGCTGGGCTGG 0.468000 20 77 1.56452e-12 2.37549e-12 0.007413 1 0 CEP104 9731 broad.mit.edu 37 1 3751513 3751513 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:3751513T>A ENST00000378230.3 - 11 1785 c.1461A>T c.(1459-1461)agA>agT p.R487S CEP104_ENST00000460038.1_5'UTR NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 487 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 CCTTTATGGCTCTTCTAACGA 0.502000 4 6 0 0 0.000602 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890121 23890121 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:23890121C>A ENST00000532292.1 - 1 1054 c.960G>T c.(958-960)gaG>gaT p.E320D NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGCTTTGGACCTCCCAGTCAC 0.612000 10 59 1.58986e-06 2.00474e-06 0.008291 1 0 MUC17 140453 broad.mit.edu 37 7 100696667 100696667 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:100696667G>C ENST00000306151.4 + 11 13377 c.13313G>C c.(13312-13314)aGt>aCt p.S4438T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4438 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGAGGACAGTGGACCAGCT 0.463000 24 13 0 0 0.003954 0 0 PML 5371 broad.mit.edu 37 15 74337282 74337282 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr15:74337282G>T ENST00000565898.1 + 8 2522 c.2438G>T c.(2437-2439)cGg>cTg p.R813L PML_ENST00000268058.3_Missense_Mutation_p.R861L P29590 PML_HUMAN promyelocytic leukemia 861 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GCGCTGGCACGGGCAGAAGGA 0.652000 T """RARA, PAX5""" """APL, ALL""" 10 66 9.70103e-10 1.38407e-09 0.008291 1 0 KRT34 3885 broad.mit.edu 37 17 39535834 39535834 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:39535834C>G ENST00000394001.1 - 4 894 c.864G>C c.(862-864)tgG>tgC p.W288C NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 288 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) GCGTGGCGAACCATTGCTCCA 0.592000 17 127 0 0 0.004990 0 0 LNP1 348801 broad.mit.edu 37 3 100170692 100170692 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:100170692G>A ENST00000383693.3 + 3 1566 c.286G>A c.(286-288)Gag>Aag p.E96K LNP1_ENST00000489752.1_Missense_Mutation_p.E109K NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 96 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GTCATTCAAGGAGCCACTGGA 0.448000 14 60 0 0 0.004007 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005197 102005197 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:102005197G>T ENST00000372735.1 + 4 1859 c.1274G>T c.(1273-1275)gGa>gTa p.G425V BHLHB9_ENST00000361229.4_Missense_Mutation_p.G425V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.G425V Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 425 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGCAATCTGGATTAAAGATA 0.388000 22 80 1.28384e-07 1.69303e-07 0.001882 1 0 MXRA5 25878 broad.mit.edu 37 X 3229500 3229500 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:3229500C>A ENST00000217939.6 - 7 6898 c.6744G>T c.(6742-6744)aaG>aaT p.K2248N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2248 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTTCTCCTCCTTGTGTTCAA 0.542000 39 74 1.7489e-18 2.98396e-18 0.002852 1 0 SLC9A7 84679 broad.mit.edu 37 X 46508189 46508189 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:46508189G>T ENST00000328306.4 - 11 1416 c.1391C>A c.(1390-1392)tCc>tAc p.S464Y NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 464 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GAGGAAGAAGGAGAGCGGGTA 0.463000 28 46 9.80776e-20 1.69082e-19 0.006320 1 0 ZNF511 118472 broad.mit.edu 37 10 135165895 135165895 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr10:135165895T>A ENST00000368554.4 + 8 906 c.884T>A c.(883-885)gTg>gAg p.V295E PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000433452.2_Missense_Mutation_p.V136E|PRAP1_ENST00000458230.1_Missense_Mutation_p.V127E|PRAP1_ENST00000423766.1_Missense_Mutation_p.V137E Q8NB15 ZN511_HUMAN zinc finger protein 511 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) AATCACCAGGTGCTCCTGGGA 0.662000 12 66 0 0 0.003163 0 0 ANK2 287 broad.mit.edu 37 4 114274602 114274602 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:114274602G>T ENST00000357077.4 + 38 4881 c.4828G>T c.(4828-4830)Gaa>Taa p.E1610* ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1577*|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1577 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCACCTTTAGAAATCACTGA 0.403000 26 26 4.72057e-08 6.35166e-08 0.003954 1 0 SERPINA10 51156 broad.mit.edu 37 14 94756459 94756459 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:94756459G>T ENST00000554723.1 - 2 1010 c.592C>A c.(592-594)Ctg>Atg p.L198M SERPINA10_ENST00000554173.1_Missense_Mutation_p.L158M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L158M|SERPINA10_ENST00000393096.1_Missense_Mutation_p.L158M Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 158 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GTGAGGCCCAGTTCCAGGTTG 0.522000 29 41 9.65021e-13 1.4788e-12 0.002096 1 0 COL18A1 80781 broad.mit.edu 37 21 46896376 46896376 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:46896376A>T ENST00000359759.4 + 5 2176 c.2155A>T c.(2155-2157)Acg>Tcg p.T719S COL18A1_ENST00000355480.5_Missense_Mutation_p.T484S|COL18A1_ENST00000400337.2_Missense_Mutation_p.T304S P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 719 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGAGCAGACCACGGTGGCTTC 0.572000 8 10 0 0 0.003080 0 0 MXRA8 54587 broad.mit.edu 37 1 1290644 1290644 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:1290644C>A ENST00000309212.6 - 4 488 c.458G>T c.(457-459)cGc>cTc p.R153L MXRA8_ENST00000342753.4_Missense_Mutation_p.R52L|MXRA8_ENST00000445648.2_Missense_Mutation_p.R153L NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 153 Ig-like V-type 1. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GACCTCCAGGCGGACGGCCAG 0.741000 9 23 3.07112e-06 3.85053e-06 0.000978 1 0 CSTF2 1478 broad.mit.edu 37 X 100078902 100078902 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:100078902G>C ENST00000415585.2 + 5 494 c.472G>C c.(472-474)Gca>Cca p.A158P CSTF2_ENST00000372972.2_Missense_Mutation_p.A158P|CSTF2_ENST00000486615.1_Intron P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 158 Interactions with CSTF3 and SYMPK. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 TCCCCAGGAGGCACGGAACAT 0.458000 36 101 0 0 0.003755 0 0 TEX14 56155 broad.mit.edu 37 17 56665328 56665328 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:56665328A>T ENST00000389934.3 - 16 2748 c.2631T>A c.(2629-2631)agT>agA p.S877R TEX14_ENST00000349033.5_Missense_Mutation_p.S877R|TEX14_ENST00000240361.8_Missense_Mutation_p.S883R NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 883 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAAGAGTGcactattaaact 0.493000 OREG0024616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 56 0 0 0.000978 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130319288 130319288 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:130319288C>T ENST00000299164.2 + 1 420 c.420C>T c.(418-420)ccC>ccT p.P140P NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 140 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCCCGCTGCCCAATGCTAGCG 0.706000 23 34 0 0 0.002299 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868938 22868938 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:22868938G>T ENST00000302097.3 - 2 1269 c.1017C>A c.(1015-1017)tgC>tgA p.C339* NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ACTGCCGGTGGCAGTGCTGGC 0.458000 32 92 3.93418e-24 7.07725e-24 0.004289 1 0 SETBP1 26040 broad.mit.edu 37 18 42531648 42531648 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr18:42531648A>G ENST00000282030.5 + 4 2639 c.2343A>G c.(2341-2343)acA>acG p.T781T NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 781 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACTTTCAACACAGTTAGGTG 0.522000 Schinzel-Giedion syndrome 36 32 0 0 0.004289 0 0 INTU 27152 broad.mit.edu 37 4 128626894 128626894 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:128626894G>T ENST00000335251.5 + 11 1818 c.1715G>T c.(1714-1716)cGa>cTa p.R572L INTU_ENST00000512995.1_3'UTR NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 572 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CATCACCTCCGACCTTTGGCA 0.448000 46 79 7.05377e-20 1.21922e-19 0.003610 1 0 CUL4A 8451 broad.mit.edu 37 13 113887578 113887578 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:113887578C>T ENST00000451881.1 + 6 549 c.300C>T c.(298-300)atC>atT p.I100I CUL4A_ENST00000326335.4_Silent_p.I100I|CUL4A_ENST00000375440.4_Silent_p.I200I|CUL4A_ENST00000375441.3_Silent_p.I100I NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 200 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TACTGCTGATCGAGCGCGAGA 0.512000 7 64 0 0 0.001984 0 0 KIAA1456 57604 broad.mit.edu 37 8 12879006 12879006 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:12879006A>G ENST00000524591.2 + 5 1307 c.818A>G c.(817-819)aAc>aGc p.N273S KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 273 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 CCCTTGAAAAACACAGAAGTT 0.418000 20 52 0 0 0.008871 0 0 M1AP 130951 broad.mit.edu 37 2 74802690 74802690 + Missense_Mutation SNP C C T rs140179344 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:74802690C>T ENST00000290536.5 - 7 1065 c.949G>A c.(949-951)Ggg>Agg p.G317R M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.G35R|M1AP_ENST00000409585.1_Missense_Mutation_p.G317R|M1AP_ENST00000536235.1_Missense_Mutation_p.G317R NM_138804.3 NP_620159.2 meiosis 1 associated protein TCGCAGAGCCCGCTAGATTTT 0.448000 14 103 0 0 0.003163 0 0 GIPC2 54810 broad.mit.edu 37 1 78546513 78546513 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:78546513C>A ENST00000370759.3 + 2 588 c.395C>A c.(394-396)aCa>aAa p.T132K GIPC2_ENST00000476882.1_3'UTR NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 132 PDZ. cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 CTCACCATTACAGATAATGGT 0.338000 16 39 1.15088e-07 1.52072e-07 0.004007 1 0 ATP1A2 477 broad.mit.edu 37 1 160111106 160111106 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:160111106C>A ENST00000361216.3 + 23 3146 c.3057C>A c.(3055-3057)taC>taA p.Y1019* ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.Y1008* NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 1019 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGGAGACATACTACTGACCCC 0.512000 13 55 0.000151284 0.00017884 0.001855 1 0 SLC22A12 116085 broad.mit.edu 37 11 64359046 64359046 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:64359046C>G ENST00000377574.1 + 1 765 c.18C>G c.(16-18)ctC>ctG p.L6L SLC22A12_ENST00000377572.1_Silent_p.L6L|SLC22A12_ENST00000377567.2_Silent_p.L6L|SLC22A12_ENST00000336464.7_Silent_p.L6L|SLC22A12_ENST00000473690.1_Intron NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 6 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TTTCTGAACTCCTGGACCTCG 0.592000 29 128 0 0 0.008361 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294720 110294720 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:110294720G>C ENST00000369805.3 - 15 1563 c.1334C>G c.(1333-1335)tCc>tGc p.S445C RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S414C|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S444C NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 444 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TTTGGGGCTGGAGGGCCTGGA 0.572000 32 210 0 0 0.002836 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912052 101912052 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:101912052C>G ENST00000537097.1 + 6 4024 c.3211C>G c.(3211-3213)Ccg>Gcg p.P1071A RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1071A|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1071A|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1071A NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1071 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTTTAGATTTCCGAAAGAGGC 0.512000 104 189 0 0 0.003610 0 0 OR5T2 219464 broad.mit.edu 37 11 55999734 55999734 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:55999734C>T ENST00000313264.4 - 1 1003 c.928G>A c.(928-930)Gac>Aac p.D310N NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACTATCATGTCATGGTCCGAA 0.398000 22 83 0 0 0.002299 0 0 DCDC1 341019 broad.mit.edu 37 11 31086701 31086701 + Splice_Site SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:31086701C>A ENST00000597505.1 - 17 2298 c.e17-1 DCDC1_ENST00000437348.1_Splice_Site P59894 DCDC1_HUMAN doublecortin domain containing 1 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GAGGATAAGCCTGTAAGAAAG 0.393000 13 28 0.00185496 0.00211721 0.001855 1 0 BRIP1 83990 broad.mit.edu 37 17 59938841 59938841 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:59938841T>C ENST00000259008.2 - 2 327 c.60A>G c.(58-60)aaA>aaG p.K20K BRIP1_ENST00000577598.1_Silent_p.K20K NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 20 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 ACGGGTAAGCTTTATAAGGAA 0.328000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 18 41 0 0 0.007413 0 0 SCML1 6322 broad.mit.edu 37 X 17768022 17768022 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:17768022T>C ENST00000380043.3 + 5 559 c.231T>C c.(229-231)taT>taC p.Y77Y SCML1_ENST00000398080.1_5'UTR|SCML1_ENST00000380041.3_Silent_p.Y104Y|SCML1_ENST00000380045.3_5'UTR NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 104 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) AGAAGCGATATGGATATAAAA 0.318000 53 81 0 0 0.003610 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350926 50350926 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:50350926G>A ENST00000376020.2 - 6 3241 c.3216C>T c.(3214-3216)gcC>gcT p.A1072A SHROOM4_ENST00000289292.7_Silent_p.A1072A|SHROOM4_ENST00000460112.3_Silent_p.A956A NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1072 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCTGCCCCCAGGCCCGGGTGC 0.617000 23 45 0 0 0.002780 0 0 GPR142 350383 broad.mit.edu 37 17 72368049 72368049 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:72368049G>T ENST00000335666.4 + 4 747 c.699G>T c.(697-699)acG>acT p.T233T NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 233 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 TGGTGCGCACGGCCAACATCC 0.642000 9 25 0.000274275 0.000319666 0.004482 1 0 ATP5B 506 broad.mit.edu 37 12 57033788 57033788 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr12:57033788G>A ENST00000262030.3 - 8 1313 c.1263C>T c.(1261-1263)gcC>gcT p.A421A ATP5B_ENST00000552919.1_Silent_p.A410A|ATP5B_ENST00000550162.1_5'UTR NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 421 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCACCCCACGGGCAACATCGT 0.502000 13 59 0 0 0.002450 0 0 MYH6 4624 broad.mit.edu 37 14 23869595 23869595 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr14:23869595T>A ENST00000405093.3 - 14 1521 c.1451A>T c.(1450-1452)gAg>gTg p.E484V MYH6_ENST00000356287.3_Missense_Mutation_p.E484V NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 484 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTGCAGCTTCTCGTTGGTGAA 0.537000 26 37 0 0 0.004656 0 0 MED14 9282 broad.mit.edu 37 X 40562805 40562805 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:40562805T>A ENST00000324817.1 - 11 1420 c.1302A>T c.(1300-1302)gcA>gcT p.A434A NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 434 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAGCTGGGAGTGCAGTCTCTA 0.338000 12 20 0 0 0.001368 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347960 38347960 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:38347960G>T ENST00000273173.4 + 1 534 c.443G>T c.(442-444)gGc>gTc p.G148V SLC22A14_ENST00000448498.1_Missense_Mutation_p.G148V NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 148 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) ATCCAGTTTGGCCTCAATGAC 0.478000 37 106 5.71845e-15 9.23321e-15 0.005524 1 0 CRIM1 51232 broad.mit.edu 37 2 36744655 36744655 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:36744655A>T ENST00000280527.2 + 12 2543 c.2176A>T c.(2176-2178)Acc>Tcc p.T726S NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 726 VWFC 4. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CCCCTCACGCACCCAGGATTC 0.597000 22 69 0 0 0.003330 0 0 MED12L 116931 broad.mit.edu 37 3 151101949 151101949 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:151101949C>A ENST00000474524.1 + 33 4802 c.4764C>A c.(4762-4764)tcC>tcA p.S1588S P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.S1448S NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1588 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAAATGCATCCCCTGGGGGAT 0.358000 22 33 5.49717e-05 6.60458e-05 0.003330 1 0 DDX60 55601 broad.mit.edu 37 4 169196580 169196580 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:169196580C>G ENST00000393743.3 - 16 2511 c.2220G>C c.(2218-2220)ctG>ctC p.L740L NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 740 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CCATGTATTGCAGTTGGAACC 0.403000 13 33 0 0 0.001855 0 0 TTC37 9652 broad.mit.edu 37 5 94863776 94863776 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:94863776C>T ENST00000358746.2 - 13 1373 c.1075G>A c.(1075-1077)Gct>Act p.A359T NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 359 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TTAATCAAAGCCTCTGCTTTC 0.378000 14 27 0 0 0.003163 0 0 HLTF 6596 broad.mit.edu 37 3 148789207 148789207 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:148789207T>A ENST00000310053.5 - 7 919 c.726A>T c.(724-726)ccA>ccT p.P242P HLTF_ENST00000494055.1_Silent_p.P242P|HLTF_ENST00000392912.2_Silent_p.P242P|HLTF_ENST00000465259.1_Silent_p.P242P NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 242 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTTTTTGATGTGGAAGCAGTG 0.358000 12 21 0 0 0.004007 0 0 OR10W1 81341 broad.mit.edu 37 11 58035220 58035220 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:58035220C>A ENST00000395079.2 - 1 512 c.111G>T c.(109-111)gtG>gtT p.V37V NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) GAATGGACACCACAATGAGAA 0.493000 10 62 0.000442599 0.000513136 0.006214 1 0 GRIN2A 2903 broad.mit.edu 37 16 9857957 9857957 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr16:9857957C>T ENST00000396573.2 - 14 3753 c.3444G>A c.(3442-3444)ccG>ccA p.P1148P GRIN2A_ENST00000330684.3_Silent_p.P1148P|GRIN2A_ENST00000404927.2_Silent_p.P1148P|GRIN2A_ENST00000396575.2_Silent_p.P1148P|GRIN2A_ENST00000562109.1_Silent_p.P1148P|GRIN2A_ENST00000535259.1_Silent_p.P991P NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1148 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTAGGGGTCCGGGAAGTCCA 0.527000 50 124 0 0 0.003610 0 0 DQX1 165545 broad.mit.edu 37 2 74751353 74751353 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:74751353C>A ENST00000404568.3 - 4 732 c.513G>T c.(511-513)gaG>gaT p.E171D DQX1_ENST00000393951.2_Missense_Mutation_p.E171D|DQX1_ENST00000495597.1_5'UTR NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 171 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 GCTCCTGAGCCTCATCTAGTA 0.597000 19 129 1.15919e-05 1.42371e-05 0.008871 1 0 SCN5A 6331 broad.mit.edu 37 3 38598729 38598729 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr3:38598729G>A ENST00000413689.1 - 24 4485 c.4292C>T c.(4291-4293)tCc>tTc p.S1431F SCN5A_ENST00000423572.2_Missense_Mutation_p.S1430F|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1431F|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1430F|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1430F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1431 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) TACCCCCCTGGAGTCCACAGC 0.502000 5 55 0 0 0.004482 0 0 COL18A1 80781 broad.mit.edu 37 21 46901927 46901927 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr21:46901927G>A ENST00000359759.4 + 13 2928 c.2907G>A c.(2905-2907)caG>caA p.Q969Q COL18A1_ENST00000355480.5_Silent_p.Q734Q|COL18A1_ENST00000400337.2_Silent_p.Q554Q P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 969 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGACTGGGCAGAAAGGCAGCC 0.647000 7 33 0 0 0.004482 0 0 SBDS 51119 broad.mit.edu 37 7 66456250 66456250 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:66456250C>G ENST00000246868.2 - 4 681 c.498G>C c.(496-498)aaG>aaC p.K166N NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 166 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 CACGTTCTATCTTCATTTTCT 0.373000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 4 30 0 0 0.000602 0 0 P2RY8 286530 broad.mit.edu 37 X 1584790 1584790 + Nonsense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:1584790A>T ENST00000381297.4 - 2 872 c.662T>A c.(661-663)tTg>tAg p.L221* NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 221 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCCGTGCGCAACAGCTTGAG 0.647000 T CRLF2 """B-ALL, Downs associated ALL""" 12 26 0 0 0.000978 0 0 SETDB2 83852 broad.mit.edu 37 13 50034254 50034254 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:50034254A>G ENST00000354234.4 + 3 934 c.28A>G c.(28-30)Act>Gct p.T10A SETDB2_ENST00000317257.8_Missense_Mutation_p.T10A|SETDB2_ENST00000258672.5_Missense_Mutation_p.T10A NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 10 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CGATGCAAAAACTTTCTGGAT 0.328000 50 108 0 0 0.003610 0 0 ZFHX4 79776 broad.mit.edu 37 8 77762527 77762527 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:77762527C>G ENST00000521891.2 + 9 4341 c.3893C>G c.(3892-3894)gCa>gGa p.A1298G ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1272G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1253G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1253G NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1253 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) CTACTGCCAGCAGCTGCCTCT 0.478000 HNSCC(33;0.089) 3 17 0 0 0.004672 0 0 BRDT 676 broad.mit.edu 37 1 92441925 92441925 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:92441925A>G ENST00000370389.2 + 5 1253 c.329A>G c.(328-330)aAg>aGg p.K110R BRDT_ENST00000402388.1_Missense_Mutation_p.K183R|BRDT_ENST00000399546.2_Missense_Mutation_p.K183R|BRDT_ENST00000362005.3_Missense_Mutation_p.K183R|BRDT_ENST00000394530.3_Missense_Mutation_p.K137R NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 183 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GTATTTCCTAAGACATCTATT 0.388000 19 45 0 0 0.007413 0 0 LPAR4 2846 broad.mit.edu 37 X 78010848 78010848 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:78010848G>A ENST00000435339.2 + 2 887 c.482G>A c.(481-483)gGt>gAt p.G161D LPAR4_ENST00000373301.2_Missense_Mutation_p.G161D NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 161 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 GTGTGTGCTGGTGTCTGGATC 0.458000 40 93 0 0 0.005524 0 0 FDXR 2232 broad.mit.edu 37 17 72860303 72860303 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:72860303T>A ENST00000455107.2 - 10 1253 c.837A>T c.(835-837)gcA>gcT p.A279A FDXR_ENST00000413947.2_Silent_p.A354A|FDXR_ENST00000581530.1_Silent_p.A329A|FDXR_ENST00000293195.5_Silent_p.A323A|FDXR_ENST00000583917.1_Silent_p.A295A|FDXR_ENST00000442102.2_Silent_p.A366A|FDXR_ENST00000420580.2_Silent_p.A283A|FDXR_ENST00000582944.1_Silent_p.A315A|FDXR_ENST00000544854.1_Silent_p.A271A P22570 ADRO_HUMAN ferredoxin reductase 323 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GGACACCTGCTGCCCGCCGCC 0.667000 8 49 0 0 0.004482 0 0 DCLK1 9201 broad.mit.edu 37 13 36410270 36410270 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr13:36410270C>T ENST00000255448.4 - 8 1340 c.1129G>A c.(1129-1131)Gag>Aag p.E377K DCLK1_ENST00000360631.3_Missense_Mutation_p.E377K|DCLK1_ENST00000379893.1_Missense_Mutation_p.E70K NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 377 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAGCCTTCCTCCGACACTTCT 0.358000 31 95 0 0 0.002836 0 0 ZNF613 79898 broad.mit.edu 37 19 52447603 52447603 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:52447603G>T ENST00000293471.6 + 6 1146 c.467G>T c.(466-468)gGg>gTg p.G156V ZNF613_ENST00000391794.4_Missense_Mutation_p.G120V NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AATTCTGTGGGGGTTAATGGA 0.348000 18 85 1.99824e-07 2.61429e-07 0.004990 1 0 MAPK14 1432 broad.mit.edu 37 6 36075254 36075254 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:36075254G>T ENST00000229795.3 + 11 1311 c.864G>T c.(862-864)atG>atT p.M288I MAPK14_ENST00000229794.4_Missense_Mutation_p.M288I|MAPK14_ENST00000468133.1_Missense_Mutation_p.M211I|MAPK14_ENST00000310795.4_Missense_Mutation_p.C262F NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 288 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TGGAGAAGATGCTTGTATTGG 0.433000 59 96 1.37693e-34 2.56048e-34 0.003610 1 0 LVRN 206338 broad.mit.edu 37 5 115298444 115298444 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:115298444C>T ENST00000357872.4 + 1 254 c.130C>T c.(130-132)Cca>Tca p.P44S AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 44 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CGAGCGCGTCCCACCGTCGGA 0.697000 10 11 0 0 0.006214 0 0 ZNF746 155061 broad.mit.edu 37 7 149191310 149191310 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:149191310C>T ENST00000461958.2 - 2 505 c.309G>A c.(307-309)aaG>aaA p.K103K ZNF746_ENST00000458143.2_Silent_p.K103K|ZNF746_ENST00000340622.3_Silent_p.K103K Q6NUN9 ZN746_HUMAN zinc finger protein 746 103 KRAB. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGGACTCCCCCTTGCTGCCCG 0.652000 94 87 0 0 0.003610 0 0 CHMP2B 25978 broad.mit.edu 37 3 87302634 87302634 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:87302634G>A ENST00000263780.4 + 5 743 c.505G>A c.(505-507)Gaa>Aaa p.E169K CHMP2B_ENST00000494980.1_Missense_Mutation_p.E139K|CHMP2B_ENST00000471660.1_Missense_Mutation_p.E128K NM_014043.3 NP_054762.2 Q9UQN3 CHM2B_HUMAN charged multivesicular body protein 2B 169 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane|mitochondrion|nucleus protein domain specific binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 12 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AGTTCTTGATGAAATTGGAAT 0.358000 9 24 0 0 0.006214 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135770121 135770121 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:135770121C>T ENST00000250617.6 - 11 2420 c.1215G>A c.(1213-1215)ctG>ctA p.L405L ARHGEF6_ENST00000370622.1_Silent_p.L251L|ARHGEF6_ENST00000535227.1_Silent_p.L278L|ARHGEF6_ENST00000370620.1_Silent_p.L251L NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 405 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CGATTGCTTTCAGAATATCCT 0.378000 8 147 0 0 0.003080 0 0 AZI1 22994 broad.mit.edu 37 17 79164719 79164719 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:79164719C>A ENST00000269392.4 - 23 3187 c.2940G>T c.(2938-2940)gaG>gaT p.E980D AZI1_ENST00000374782.3_Missense_Mutation_p.E941D|AZI1_ENST00000450824.2_Missense_Mutation_p.E977D|AZI1_ENST00000575907.1_Missense_Mutation_p.E944D NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 980 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCTGCGCATCCTCCAGCGCCC 0.701000 6 49 2.0095e-06 2.50525e-06 0.001984 1 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183195 39183195 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:39183195G>A ENST00000361883.5 - 1 259 c.213C>T c.(211-213)tgC>tgT p.C71C NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 71 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) AGCTTGGCTGGCAGCAGCTGG 0.612000 21 63 0 0 0.008871 0 0 PKP1 5317 broad.mit.edu 37 1 201294192 201294192 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:201294192A>T ENST00000263946.3 + 12 2272 c.2021A>T c.(2020-2022)cAa>cTa p.Q674L PKP1_ENST00000367324.3_Missense_Mutation_p.Q653L|PKP1_ENST00000352845.3_Missense_Mutation_p.Q674L NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 674 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 TCGCAGCCACAACTGGCCAAG 0.592000 37 158 0 0 0.006230 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801049 185801049 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:185801049C>A ENST00000302277.6 + 4 1520 c.926C>A c.(925-927)cCt>cAt p.P309H NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 309 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTATTATTACCTTCATTTTGC 0.343000 9 27 0.000274275 0.00031743 0.004482 1 0 ATP7B 540 broad.mit.edu 37 13 52544664 52544664 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:52544664C>A ENST00000242839.4 - 3 1663 c.1507G>T c.(1507-1509)Gtg>Ttg p.V503L ATP7B_ENST00000448424.2_Missense_Mutation_p.V503L|ATP7B_ENST00000400366.3_Missense_Mutation_p.V392L|ATP7B_ENST00000418097.2_Missense_Mutation_p.V503L|ATP7B_ENST00000344297.5_Missense_Mutation_p.V503L|ATP7B_ENST00000542656.1_Missense_Mutation_p.V471L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 503 HMA 5. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ATGTTAGACACACAGGATGCA 0.488000 Wilson disease 40 160 1.03484e-13 1.61953e-13 0.005524 1 0 IMPG1 3617 broad.mit.edu 37 6 76715160 76715160 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:76715160A>G ENST00000369950.3 - 10 1168 c.979T>C c.(979-981)Tcc>Ccc p.S327P IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 327 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ATTTTGTTGGAATCAAAAGAC 0.448000 4 68 0 0 0.000248 0 0 DNAH1 25981 broad.mit.edu 37 3 52403852 52403852 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:52403852G>T ENST00000420323.2 + 38 6216 c.5955G>T c.(5953-5955)atG>atT p.M1985I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1985 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAATGACCATGATGTTCGAGG 0.622000 16 33 0.00400662 0.00451086 0.004007 1 0 CTAG2 30848 broad.mit.edu 37 X 153880627 153880627 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:153880627G>A ENST00000247306.4 - 2 611 c.548C>T c.(547-549)cCa>cTa p.P183L CTAG2_ENST00000369585.3_Intron NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 183 Poly-Pro. centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGCGGGCCTGGTGTACCAGG 0.607000 42 116 0 0 0.008740 0 0 C2orf78 388960 broad.mit.edu 37 2 74040627 74040627 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:74040627C>T ENST00000409561.1 + 2 242 c.121C>T c.(121-123)Cct>Tct p.P41S NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 41 Ser-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TACGTCTTTACCTGGAACTGC 0.423000 6 20 0 0 0.001168 0 0 IGHE 3497 broad.mit.edu 37 14 106066439 106066439 + RNA SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:106066439G>T ENST00000577108.1 - 0 107 IGHE_ENST00000576077.1_RNA CTCGCTGGACGGTCTGTGAGG 0.607000 26 58 2.65835e-16 4.34525e-16 0.007291 1 0 XPC 7508 broad.mit.edu 37 3 14220052 14220052 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:14220052G>A ENST00000285021.7 - 1 231 c.17C>T c.(16-18)gCg>gTg p.A6V XPC_ENST00000449060.2_Missense_Mutation_p.A6V|LSM3_ENST00000306024.3_5'UTR NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 6 nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCCGCCGGCCGCGCGTTTCCG 0.701000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 46 0 0 0.008291 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776202 77776202 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:77776202G>A ENST00000521891.2 + 11 10700 c.10252G>A c.(10252-10254)Gca>Aca p.A3418T ZFHX4_ENST00000455469.2_Missense_Mutation_p.A3373T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A3369T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A3392T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3369 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) TGAAGACGCCGCAGTAAATCA 0.423000 HNSCC(33;0.089) 7 23 0 0 0.001984 0 0 CCDC120 90060 broad.mit.edu 37 X 48920062 48920062 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:48920062G>C ENST00000376396.3 + 4 332 c.113G>C c.(112-114)cGg>cCg p.R38P CCDC120_ENST00000422185.2_Missense_Mutation_p.R38P|CCDC120_ENST00000603986.1_Missense_Mutation_p.R73P|CCDC120_ENST00000597275.1_Missense_Mutation_p.R38P|CCDC120_ENST00000536628.2_Missense_Mutation_p.R26P|CCDC120_ENST00000496529.2_Missense_Mutation_p.R38P NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 38 protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 CTGCTTGACCGGCAGCGGACC 0.652000 21 34 0 0 0.001523 0 0 TECPR1 25851 broad.mit.edu 37 7 97870247 97870247 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:97870247G>A ENST00000447648.2 - 8 1148 c.849C>T c.(847-849)atC>atT p.I283I TECPR1_ENST00000542604.1_Silent_p.I213I|TECPR1_ENST00000379795.3_Silent_p.I283I Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 283 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAGGCTCCACGATGGACCAGG 0.612000 9 4 0 0 0.006214 0 0 MICAL3 57553 broad.mit.edu 37 22 18301796 18301796 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:18301796C>A ENST00000441493.2 - 26 3983 c.3631G>T c.(3631-3633)Gat>Tat p.D1211Y NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1211 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GAGGGGGCATCAGCTTTGGGC 0.622000 7 24 1.06961e-07 1.41053e-07 0.003080 1 0 EYS 346007 broad.mit.edu 37 6 66112371 66112371 + Splice_Site SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:66112371C>G ENST00000503581.1 - 7 1721 c.1184_splice c.e7+1 p.S395_splice EYS_ENST00000393380.2_Splice_Site_p.S395_splice|EYS_ENST00000370616.2_Splice_Site_p.S395_splice|EYS_ENST00000370618.3_Splice_Site_p.S395_splice|EYS_ENST00000370621.3_Splice_Site_p.S395_splice|EYS_ENST00000342421.5_Splice_Site_p.S395_splice NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 395 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTAATTATACCTGCAAGGATA 0.274000 3 18 0 0 0.004672 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101571804 101571804 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:101571804A>G ENST00000326172.5 + 4 650 c.535A>G c.(535-537)Agg>Ggg p.R179G NFKBIZ_ENST00000326151.5_Missense_Mutation_p.R179G|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.R79G NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TGCTTGCAAAAGGCCAGCTCT 0.423000 15 69 0 0 0.002450 0 0 TPGS2 25941 broad.mit.edu 37 18 34385371 34385371 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:34385371G>A ENST00000334295.4 - 4 775 c.348C>T c.(346-348)ccC>ccT p.P116P TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000589049.1_Silent_p.P116P|TPGS2_ENST00000590842.1_Silent_p.P116P|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000587129.1_Silent_p.P116P NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 116 cytoplasm|microtubule CTGCCAGAGTGGGTGCATTAG 0.493000 41 66 0 0 0.002522 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40269028 40269028 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:40269028C>G ENST00000263791.5 + 12 2275 c.2232C>G c.(2230-2232)gtC>gtG p.V744V EIF2AK4_ENST00000382727.2_Silent_p.V744V NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 744 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ACGGTGGCGTCTTCTCCCAGT 0.607000 9 64 0 0 0.008291 0 0 AP4E1 23431 broad.mit.edu 37 15 51250970 51250970 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:51250970C>T ENST00000261842.5 + 14 1936 c.1830C>T c.(1828-1830)gaC>gaT p.D610D AP4E1_ENST00000560508.1_Silent_p.D535D NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 610 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TTCCAGTTGACAGGAGTTGTG 0.348000 11 49 0 0 0.000978 0 0 RFC3 5983 broad.mit.edu 37 13 34404941 34404941 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:34404941G>T ENST00000380071.3 + 6 789 c.659G>T c.(658-660)tGt>tTt p.C220F RFC3_ENST00000434425.1_Missense_Mutation_p.C220F NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 220 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GAGAAGTCTTGTAGAAATCTC 0.428000 9 49 6.40141e-05 7.59451e-05 0.000978 1 0 FOXO4 4303 broad.mit.edu 37 X 70321243 70321243 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:70321243C>A ENST00000374259.3 + 2 1495 c.1163C>A c.(1162-1164)cCc>cAc p.P388H FOXO4_ENST00000341558.3_Missense_Mutation_p.P333H NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 388 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) CAGGTAGATCCCATTCTGTCC 0.637000 23 67 1.10513e-12 1.67414e-12 0.002299 1 0 DKC1 1736 broad.mit.edu 37 X 153993755 153993755 + Nonsense_Mutation SNP G G T rs121912302 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:153993755G>T ENST00000369550.5 + 3 331 c.121G>T c.(121-123)Gaa>Taa p.E41* NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 41 E -> K (in XDKC; dbSNP:rs121912302). cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TATCAAACCTGAATCCAAAGT 0.388000 Congenital Dyskeratosis 62 189 6.25564e-26 1.1284e-25 0.003610 1 0 RBM10 8241 broad.mit.edu 37 X 47045727 47045727 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:47045727G>T ENST00000377604.3 + 23 3350 c.2608G>T c.(2608-2610)Ggc>Tgc p.G870C RBM10_ENST00000345781.6_Missense_Mutation_p.G793C|RBM10_ENST00000329236.7_Missense_Mutation_p.G792C|RBM10_ENST00000468791.1_3'UTR NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 870 G-patch. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GCAGGCCATGGGCTGGAAAGA 0.637000 6 7 2.0095e-06 2.50525e-06 0.001984 1 0 IGF1R 3480 broad.mit.edu 37 15 99251273 99251273 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:99251273G>A ENST00000268035.6 + 2 1188 c.577G>A c.(577-579)Gag>Aag p.E193K IGF1R_ENST00000558762.1_Missense_Mutation_p.E193K NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 193 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GCCGATGTGTGAGAAGACCAC 0.517000 5 63 0 0 0.001984 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005196 102005196 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:102005196G>T ENST00000372735.1 + 4 1858 c.1273G>T c.(1273-1275)Gga>Tga p.G425* BHLHB9_ENST00000361229.4_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000448867.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000457056.1_Nonsense_Mutation_p.G425*|BHLHB9_ENST00000447531.1_Nonsense_Mutation_p.G425* Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 425 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACAGCAATCTGGATTAAAGAT 0.383000 21 78 1.2644e-06 1.59435e-06 0.001523 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781554 128781554 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:128781554G>T ENST00000529694.1 + 2 762 c.386G>T c.(385-387)tGt>tTt p.C129F KCNJ5_ENST00000533599.1_Missense_Mutation_p.C129F|KCNJ5_ENST00000338350.4_Missense_Mutation_p.C129F NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 129 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) TGGATTCCTTGTGTTGAAAAC 0.502000 42 82 1.52319e-26 2.7626e-26 0.008740 1 0 SPTB 6710 broad.mit.edu 37 14 65239306 65239306 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:65239306C>A ENST00000389722.3 - 25 5598 c.5545G>T c.(5545-5547)Ggt>Tgt p.G1849C SPTB_ENST00000542895.1_Missense_Mutation_p.G1849C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1849C|SPTB_ENST00000389721.5_Missense_Mutation_p.G1849C|SPTB_ENST00000556626.1_Missense_Mutation_p.G1849C NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1849 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ACCTGGACACCCAGCAGGTGG 0.667000 13 12 3.27435e-08 4.41471e-08 0.002450 1 0 TTN 7273 broad.mit.edu 37 2 179435842 179435842 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:179435842G>A ENST00000589042.1 - 326 75241 c.75017C>T c.(75016-75018)cCa>cTa p.P25006L TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16133L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23365L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15941L|TTN_ENST00000342992.6_Missense_Mutation_p.P22438L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16066L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23365 Ig-like 123. 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) TGGATCACATGGGTCACGAGC 0.468000 8 165 0 0 0.003080 0 0 GPX5 2880 broad.mit.edu 37 6 28497230 28497230 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:28497230G>T ENST00000412168.2 + 2 179 c.90G>T c.(88-90)atG>atT p.M30I GPX5_ENST00000469384.1_Missense_Mutation_p.M30I|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 30 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TCTTCCAGATGGATTGCCACA 0.368000 29 40 3.86903e-22 6.72256e-22 0.002836 1 0 APLNR 187 broad.mit.edu 37 11 57004438 57004438 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:57004438T>A ENST00000606794.1 - 1 237 c.41A>T c.(40-42)gAc>gTc p.D14V NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 14 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AGACTGGTTGTCTGCCCCATA 0.582000 27 50 0 0 0.006320 0 0 GPR25 2848 broad.mit.edu 37 1 200843050 200843050 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:200843050G>T ENST00000304244.2 + 1 968 c.885G>T c.(883-885)ctG>ctT p.L295L NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 295 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 CCACCTGCCTGGCCTTCGTCA 0.746000 28 60 8.4185e-14 1.32063e-13 0.002445 1 0 TRPC4 7223 broad.mit.edu 37 13 38320488 38320488 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:38320488C>A ENST00000379705.3 - 3 1340 c.483G>T c.(481-483)ttG>ttT p.L161F TRPC4_ENST00000379681.3_Missense_Mutation_p.L161F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L161F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.L161F|TRPC4_ENST00000426868.2_Missense_Mutation_p.L161F|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.L161F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L161F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 161 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTTTCTGAACCAAGAGTTTTA 0.463000 36 112 3.78316e-11 5.52859e-11 0.006230 1 0 TTN 7273 broad.mit.edu 37 2 179396333 179396333 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:179396333G>T ENST00000589042.1 - 358 105233 c.105009C>A c.(105007-105009)gaC>gaA p.D35003E TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26130E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33362E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D25938E|TTN_ENST00000342992.6_Missense_Mutation_p.D32435E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26063E|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33362 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) CAGTATGACAGTCCAGAATTT 0.488000 27 45 1.39806e-14 2.23015e-14 0.008361 1 0 ATP13A4 84239 broad.mit.edu 37 3 193176992 193176992 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:193176992C>A ENST00000342695.4 - 14 1874 c.1552G>T c.(1552-1554)Ggc>Tgc p.G518C ATP13A4_ENST00000392443.3_Missense_Mutation_p.G499C|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G518C NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 518 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AAAGCCTGGCCTGAGGCAAAG 0.532000 11 66 7.03913e-09 9.7284e-09 0.001368 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 8 8.12818e-05 9.60868e-05 0.001984 1 0 TMEM140 55281 broad.mit.edu 37 7 134849484 134849484 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:134849484C>A ENST00000275767.2 + 2 514 c.291C>A c.(289-291)gcC>gcA p.A97A C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 97 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 CCCTCTTTGCCCCCCAGCCTC 0.677000 16 54 1.52009e-12 2.29226e-12 0.003163 1 0 MUC5AC 4586 broad.mit.edu 37 11 1151661 1151661 + Nonsense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:1151661G>A ENST00000356191.2 + 1 35 c.35G>A c.(34-36)tGg>tAg p.W12* mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GCCCTGCTCTGGGCCCTGGCT 0.677000 3 6 0 0 0.000248 0 0 TMEM145 284339 broad.mit.edu 37 19 42822023 42822023 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:42822023T>A ENST00000598766.1 + 12 1135 c.1135T>A c.(1135-1137)Tat>Aat p.Y379N TMEM145_ENST00000301204.3_Missense_Mutation_p.Y355N Q8NBT3 TM145_HUMAN transmembrane protein 145 355 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CTTTGCTGCCTATACCCTCTG 0.582000 30 65 0 0 0.003271 0 0 CRTAC1 55118 broad.mit.edu 37 10 99771079 99771079 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:99771079G>A ENST00000370597.3 - 2 395 c.40C>T c.(40-42)Ccg>Tcg p.P14S CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14S|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14S NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 14 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AGCAGGAACGGTAACATCCTG 0.512000 16 89 0 0 0.004007 0 0 MRPL2 51069 broad.mit.edu 37 6 43025848 43025848 + Missense_Mutation SNP T T A rs141171843 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:43025848T>A ENST00000388752.3 - 2 644 c.220A>T c.(220-222)Att>Ttt p.I74F MRPL2_ENST00000468957.1_Missense_Mutation_p.I74F|MRPL2_ENST00000230413.5_Missense_Mutation_p.I74F|MRPL2_ENST00000487429.1_3'UTR|MRPL2_ENST00000489623.1_Missense_Mutation_p.I74F NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 74 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) ACTGGTGTAATGGTGTACTTG 0.512000 51 102 0 0 0.003610 0 0 MYO9B 4650 broad.mit.edu 37 19 17311621 17311621 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:17311621G>T ENST00000595618.1 + 26 4698 c.4546G>T c.(4546-4548)Gag>Tag p.E1516* MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E1516*|MYO9B_ENST00000594824.1_Nonsense_Mutation_p.E1516* NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1516 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GTACCTGGACGAGTTCCTGCT 0.557000 13 83 1.5842e-08 2.16682e-08 0.001855 1 0 TCEB3 6924 broad.mit.edu 37 1 24078311 24078311 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:24078311T>A ENST00000418390.2 + 4 1565 c.1294T>A c.(1294-1296)Tct>Act p.S432T NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 432 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GCCAACCATGTCTTTTGAATC 0.423000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 239 0 0 0.003271 0 0 UBBP4 23666 broad.mit.edu 37 17 21731494 21731494 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:21731494C>A ENST00000578713.1 + 2 573 c.569C>A c.(568-570)cCc>cAc p.P190H UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCATCCCCCCCGATCAGCAG 0.542000 18 45 1.99824e-07 2.59888e-07 0.004990 1 0 PAQR9 344838 broad.mit.edu 37 3 142681404 142681404 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:142681404G>A ENST00000340634.3 - 1 774 c.775C>T c.(775-777)Ctc>Ttc p.L259F NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 259 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 CAGCTCTCGAGCATAATGGGG 0.617000 26 66 0 0 0.007291 0 0 ZNF200 7752 broad.mit.edu 37 16 3274184 3274184 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:3274184T>A ENST00000431561.3 - 5 1508 c.896A>T c.(895-897)gAg>gTg p.E299V ZNF200_ENST00000575948.1_Missense_Mutation_p.E298V|ZNF200_ENST00000396868.3_Missense_Mutation_p.E298V|ZNF200_ENST00000396870.4_Missense_Mutation_p.E298V|ZNF200_ENST00000396871.4_Missense_Mutation_p.E298V|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.E299V NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 ATGAATTCGCTCATGTTTATT 0.413000 26 82 0 0 0.004656 0 0 LTBP2 4053 broad.mit.edu 37 14 75022254 75022254 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:75022254C>G ENST00000261978.4 - 4 1359 c.973G>C c.(973-975)Gat>Cat p.D325H LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.D325H NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 325 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) TGGGTGCCATCTCTCTGCTCA 0.632000 29 44 0 0 0.002096 0 0 POLA1 5422 broad.mit.edu 37 X 24745975 24745975 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:24745975G>T ENST00000379068.3 + 15 1651 c.1608G>T c.(1606-1608)aaG>aaT p.K536N POLA1_ENST00000379059.3_Missense_Mutation_p.K530N|POLA1_ENST00000493342.1_3'UTR P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 530 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|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 alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) ATGTAATTAAGGATGTCAGTC 0.408000 11 32 1.61879e-10 2.33473e-10 0.001368 1 0 GRM4 2914 broad.mit.edu 37 6 34008522 34008522 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:34008522C>T ENST00000374181.3 - 6 1341 c.1172G>A c.(1171-1173)cGt>cAt p.R391H GRM4_ENST00000545715.1_Missense_Mutation_p.R83H|GRM4_ENST00000535756.1_Missense_Mutation_p.R258H|GRM4_ENST00000538487.1_Missense_Mutation_p.R391H|GRM4_ENST00000455714.2_Missense_Mutation_p.R251H|GRM4_ENST00000544773.1_Missense_Mutation_p.R222H|GRM4_ENST00000374177.3_Missense_Mutation_p.R275H NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 391 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) AATTCGCTCACGGTCTGCAAT 0.597000 26 36 0 0 0.008361 0 0 GRIN1 2902 broad.mit.edu 37 9 140036576 140036576 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:140036576C>G ENST00000371561.3 + 2 1467 c.370C>G c.(370-372)Cgc>Ggc p.R124G GRIN1_ENST00000371553.3_Missense_Mutation_p.R124G|GRIN1_ENST00000350902.5_Missense_Mutation_p.R124G|GRIN1_ENST00000371560.3_Missense_Mutation_p.R124G|GRIN1_ENST00000371555.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371546.4_Missense_Mutation_p.R124G|GRIN1_ENST00000315048.3_Missense_Mutation_p.R124G|GRIN1_ENST00000371559.4_Missense_Mutation_p.R124G|GRIN1_ENST00000371550.4_Missense_Mutation_p.R124G|GRIN1_ENST00000471122.1_3'UTR NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 124 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GCTGACCACCCGCATGTCCAT 0.652000 37 81 0 0 0.004878 0 0 MYH9 4627 broad.mit.edu 37 22 36689452 36689452 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:36689452A>T ENST00000216181.5 - 30 4248 c.4018T>A c.(4018-4020)Tcc>Acc p.S1340T NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1340 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCCCGGAAGGAATTCTTCTCG 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 28 65 0 0 0.008361 0 0 DNAH3 55567 broad.mit.edu 37 16 21033313 21033313 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:21033313C>A ENST00000261383.3 - 40 5755 c.5756G>T c.(5755-5757)aGa>aTa p.R1919I DNAH3_ENST00000415178.1_Intron NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1919 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) AGAGTACAGTCTCATCATTGA 0.453000 19 38 8.10497e-08 1.07525e-07 0.001523 1 0 OR8H3 390152 broad.mit.edu 37 11 55890472 55890472 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:55890472G>T ENST00000313472.3 + 1 624 c.624G>T c.(622-624)atG>atT p.M208I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CCACCCTGATGGTGTCCCTTA 0.423000 25 119 4.4004e-07 5.62368e-07 0.003330 1 0 GAA 2548 broad.mit.edu 37 17 78086452 78086452 + Silent SNP C C T rs61736896 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:78086452C>T ENST00000302262.3 + 13 2049 c.1830C>T c.(1828-1830)gcC>gcT p.A610A GAA_ENST00000390015.3_Silent_p.A610A NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 610 Missing (in GSD2). cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GCCGATACGCCGGCCACTGGA 0.687000 3 32 0 0 0.000248 0 0 GRIN1 2902 broad.mit.edu 37 9 140036578 140036578 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:140036578C>G ENST00000371561.3 + 2 1469 c.372C>G c.(370-372)cgC>cgG p.R124R GRIN1_ENST00000371553.3_Silent_p.R124R|GRIN1_ENST00000350902.5_Silent_p.R124R|GRIN1_ENST00000371560.3_Silent_p.R124R|GRIN1_ENST00000371555.4_Silent_p.R124R|GRIN1_ENST00000371546.4_Silent_p.R124R|GRIN1_ENST00000315048.3_Silent_p.R124R|GRIN1_ENST00000371559.4_Silent_p.R124R|GRIN1_ENST00000371550.4_Silent_p.R124R|GRIN1_ENST00000471122.1_3'UTR NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 124 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGACCACCCGCATGTCCATCT 0.647000 35 76 0 0 0.003755 0 0 LILRA4 23547 broad.mit.edu 37 19 54849379 54849379 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:54849379C>G ENST00000291759.4 - 4 539 c.483G>C c.(481-483)agG>agC p.R161S NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 161 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TCCAGGAGAGCCTGTGGTCTC 0.587000 23 25 0 0 0.002780 0 0 ESPNL 339768 broad.mit.edu 37 2 239016463 239016463 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:239016463G>T ENST00000343063.3 + 4 967 c.704G>T c.(703-705)cGg>cTg p.R235L ESPNL_ENST00000409169.1_Missense_Mutation_p.R235L NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 235 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CTCACGGCACGGGACAATGAG 0.652000 4 7 1.23904e-05 1.5078e-05 0.000602 1 0 SEMA5B 54437 broad.mit.edu 37 3 122631876 122631876 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:122631876T>G ENST00000195173.4 - 18 2839 c.2536A>C c.(2536-2538)Acc>Ccc p.T846P SEMA5B_ENST00000357599.3_Missense_Mutation_p.T847P|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T901P Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 847 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TGCGGGGAGGTGCTCCCGCTG 0.771000 6 13 0 0 0.001168 0 0 VSX2 338917 broad.mit.edu 37 14 74726376 74726376 + Silent SNP G G T rs150792267 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:74726376G>T ENST00000261980.2 + 4 741 c.651G>T c.(649-651)gcG>gcT p.A217A NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 217 CVC. multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) GTGTCATGGCGGAGTATGGGC 0.627000 17 30 2.94398e-08 3.98551e-08 0.007413 1 0 OR2D2 120776 broad.mit.edu 37 11 6913062 6913062 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:6913062T>A ENST00000299459.2 - 1 768 c.670A>T c.(670-672)Act>Tct p.T224S NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTGACCACAGTTACTATGATA 0.438000 18 26 0 0 0.007413 0 0 SLC6A13 6540 broad.mit.edu 37 12 333641 333641 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:333641C>A ENST00000343164.4 - 10 1151 c.1099G>T c.(1099-1101)Gtg>Ttg p.V367L SLC6A13_ENST00000445055.2_Missense_Mutation_p.V275L NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 367 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GGCAGCATCACCACAGCCCGC 0.622000 10 55 3.86212e-05 4.61502e-05 0.008291 1 0 MUS81 80198 broad.mit.edu 37 11 65631996 65631996 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:65631996G>A ENST00000308110.4 + 11 1437 c.1088G>A c.(1087-1089)cGc>cAc p.R363H MUS81_ENST00000533035.1_Missense_Mutation_p.R288H NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 363 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) GGTCTGGAGCGCCGGGTATAC 0.592000 Homologous recombination 6 44 0 0 0.001168 0 0 TMEM63B 55362 broad.mit.edu 37 6 44119703 44119703 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:44119703C>G ENST00000259746.9 + 19 1977 c.1794C>G c.(1792-1794)ctC>ctG p.L598L TMEM63B_ENST00000323267.6_Silent_p.L598L Q5T3F8 TM63B_HUMAN transmembrane protein 63B 598 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TGATCCGGCTCTGCCTGGCGC 0.667000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 28 0 0 0.000602 0 0 HERC1 8925 broad.mit.edu 37 15 63978575 63978575 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:63978575C>A ENST00000443617.2 - 34 6295 c.6208G>T c.(6208-6210)Ggg>Tgg p.G2070W RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2070 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TGATAGCACCCAGAAGTTACT 0.398000 22 147 7.87624e-14 1.2385e-13 0.002780 1 0 FTMT 94033 broad.mit.edu 37 5 121188072 121188072 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:121188072C>A ENST00000321339.1 + 1 423 c.414C>A c.(412-414)ggC>ggA p.G138G NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 138 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) AGCGAGGAGGCCGGATCCGCC 0.582000 26 29 4.59853e-10 6.575e-10 0.005443 1 0 OR2L8 391190 broad.mit.edu 37 1 248112950 248112950 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:248112950T>C ENST00000357191.3 + 1 791 c.791T>C c.(790-792)cTg>cCg p.L264P OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCAAGATCCCTGCGATCTCCA 0.488000 5 126 0 0 0.000602 0 0 SHROOM3 57619 broad.mit.edu 37 4 77663049 77663049 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:77663049G>T ENST00000296043.6 + 5 4676 c.3723G>T c.(3721-3723)agG>agT p.R1241S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1241 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGAGGTCCAGGTCATCTCCCG 0.652000 6 21 1.06961e-07 1.41053e-07 0.003080 1 0 KIF4B 285643 broad.mit.edu 37 5 154394287 154394287 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:154394287G>C ENST00000435029.4 + 1 1028 c.868G>C c.(868-870)Gat>Cat p.D290H NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 290 Kinesin-motor. 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) GCCCTACAGAGATTCCAAGTT 0.443000 65 92 0 0 0.003610 0 0 NEMF 9147 broad.mit.edu 37 14 50280705 50280705 + Splice_Site SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:50280705C>A ENST00000298310.5 - 18 2194 c.e18+1 NEMF_ENST00000545773.1_Splice_Site|NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000546046.1_Intron O60524 NEMF_HUMAN nuclear export mediator factor cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 AAATATATTACCTGTTGGATT 0.318000 13 18 0.000151284 0.000177571 0.001855 1 0 GRIK1 2897 broad.mit.edu 37 21 30934017 30934017 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:30934017G>T ENST00000399914.1 - 14 2760 c.2239C>A c.(2239-2241)Cag>Aag p.Q747K GRIK1_ENST00000399907.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q762K|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q764K|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q762K|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q747K|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q762K|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q747K|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q764K P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 762 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CAGTTTCTCTGCGTCACATAC 0.532000 15 76 4.7546e-09 6.6125e-09 0.004007 1 0 GDF10 2662 broad.mit.edu 37 10 48429282 48429282 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:48429282G>T ENST00000224605.2 - 2 869 c.604C>A c.(604-606)Cag>Aag p.Q202K NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 202 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 TCCTTGGCCTGCCACAGGCCG 0.721000 4 23 0.00024832 0.000289926 0.000248 1 0 DGCR2 9993 broad.mit.edu 37 22 19044598 19044598 + Nonsense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:19044598G>A ENST00000263196.7 - 6 950 c.703C>T c.(703-705)Cag>Tag p.Q235* DGCR2_ENST00000537045.1_Nonsense_Mutation_p.Q194*|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000473832.1_5'UTR NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 235 C-type lectin. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CACTGAAGCTGGGCACAGAAC 0.567000 5 11 0 0 0.000602 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389380 117389380 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:117389380G>A ENST00000321322.6 - 7 1492 c.1491C>T c.(1489-1491)ccC>ccT p.P497P DSCAML1_ENST00000527706.1_Silent_p.P227P NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 437 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGTGACCGTGGGGGGCGGGG 0.662000 10 27 0 0 0.008291 0 0 SNX31 169166 broad.mit.edu 37 8 101661539 101661539 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:101661539C>T ENST00000311812.2 - 2 254 c.104G>A c.(103-105)aGg>aAg p.R35K NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 35 PX. cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) GTAGCGCACCCTGCAGAAGAG 0.607000 9 30 0 0 0.004482 0 0 PNCK 139728 broad.mit.edu 37 X 152937657 152937657 + Splice_Site SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:152937657T>C ENST00000393831.2 - 4 635 c.e4-2 PNCK_ENST00000475172.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000370145.4_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000340888.3_Splice_Site NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGACTGATCCTGCAATGGCAA 0.617000 4 41 0 0 0.000248 0 0 COQ5 84274 broad.mit.edu 37 12 120966864 120966864 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:120966864G>A ENST00000288532.6 - 1 121 c.81C>T c.(79-81)ctC>ctT p.L27L COQ5_ENST00000445328.2_Silent_p.L27L NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 27 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TACGAAGCCCGAGGAGCTGGC 0.637000 9 71 0 0 0.008291 0 0 RFX6 222546 broad.mit.edu 37 6 117232175 117232175 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:117232175T>A ENST00000332958.2 + 7 766 c.750T>A c.(748-750)ctT>ctA p.L250L RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 250 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTCAACACCTTGTATACCAAG 0.373000 32 50 0 0 0.004878 0 0 NALCN 259232 broad.mit.edu 37 13 101736089 101736089 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:101736089G>C ENST00000251127.6 - 31 3637 c.3556C>G c.(3556-3558)Cag>Gag p.Q1186E NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1186 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAAGAGGCTGTGCGATCTTC 0.498000 14 41 0 0 0.002450 0 0 ATF4P4 100127952 broad.mit.edu 37 11 113660446 113660446 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:113660446C>A ENST00000393544.2 + 0 494 GGATCCAGCACCACCTGTAGA 0.572000 5 10 0.00116845 0.00132678 0.001168 1 0 SEMA5A 9037 broad.mit.edu 37 5 9122921 9122921 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:9122921A>T ENST00000382496.5 - 14 2293 c.1628T>A c.(1627-1629)tTt>tAt p.F543Y NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 543 TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CCACACACCAAAGTGCCCATC 0.547000 19 95 0 0 0.007413 0 0 COL6A1 1291 broad.mit.edu 37 21 47422543 47422543 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:47422543G>T ENST00000361866.3 + 33 2467 c.2353G>T c.(2353-2355)Ggc>Tgc p.G785C COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 785 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GGGCCGGCCCGGCCTCTCGCT 0.597000 28 76 6.53348e-20 1.12634e-19 0.003755 1 0 C2CD2L 9854 broad.mit.edu 37 11 118984983 118984983 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:118984983C>T ENST00000336702.3 + 13 2179 c.1820C>T c.(1819-1821)tCg>tTg p.S607L C2CD2L_ENST00000528586.1_Missense_Mutation_p.S354L NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 606 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 ACAACCCGTTCGGATATTTCT 0.577000 7 179 0 0 0.001984 0 0 SPAG1 6674 broad.mit.edu 37 8 101243392 101243392 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:101243392A>G ENST00000388798.2 + 15 2055 c.1864A>G c.(1864-1866)Aca>Gca p.T622A SPAG1_ENST00000251809.3_Missense_Mutation_p.T622A|SPAG1_ENST00000523302.1_3'UTR NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 622 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AGATGAAAAAACATTTAAAGC 0.303000 19 47 0 0 0.008871 0 0 ROBO1 6091 broad.mit.edu 37 3 78766455 78766455 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:78766455C>A ENST00000436010.2 - 5 1767 c.770G>T c.(769-771)aGg>aTg p.R257M ROBO1_ENST00000495273.1_Missense_Mutation_p.R257M|ROBO1_ENST00000467549.1_Missense_Mutation_p.R257M|ROBO1_ENST00000464233.1_Missense_Mutation_p.R296M Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 296 Ig-like C2-type 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ATCATCTTTCCTCCATCGTAC 0.443000 58 134 1.34159e-35 2.49476e-35 0.003610 1 0 RC3H2 54542 broad.mit.edu 37 9 125620205 125620205 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:125620205C>A ENST00000373670.1 - 12 3051 c.2451G>T c.(2449-2451)gcG>gcT p.A817A RC3H2_ENST00000423239.2_Silent_p.A817A|RC3H2_ENST00000357244.2_Silent_p.A817A Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 817 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TTCTTACATCCGCACGAAAGT 0.418000 18 34 8.34094e-07 1.05577e-06 0.008871 1 0 AGBL1 123624 broad.mit.edu 37 15 86807859 86807859 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:86807859C>A ENST00000441037.2 + 10 1414 c.1319C>A c.(1318-1320)aCt>aAt p.T440N AGBL1_ENST00000421325.2_Missense_Mutation_p.T440N|AGBL1_ENST00000389298.3_Missense_Mutation_p.T171N NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 440 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TCTAATTCCACTAGGACTAGA 0.458000 21 101 6.44725e-10 9.17867e-10 0.002299 1 0 RGAG1 57529 broad.mit.edu 37 X 109695043 109695043 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:109695043G>T ENST00000465301.2 + 3 1444 c.1198G>T c.(1198-1200)Gca>Tca p.A400S RGAG1_ENST00000540313.1_Missense_Mutation_p.A400S NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 400 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GGTGATGTCTGCACCACCAGT 0.512000 126 428 2.77834e-61 5.28524e-61 0.003610 1 0 AKAP1 8165 broad.mit.edu 37 17 55183651 55183651 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:55183651C>G ENST00000337714.3 + 2 1059 c.826C>G c.(826-828)Cac>Gac p.H276D AKAP1_ENST00000572557.1_Missense_Mutation_p.H276D|AKAP1_ENST00000571629.1_Missense_Mutation_p.H276D|AKAP1_ENST00000314126.3_Missense_Mutation_p.H276D|AKAP1_ENST00000539273.1_Missense_Mutation_p.H276D NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 276 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CGAGTCGGCTCACACAGAGCT 0.582000 22 97 0 0 0.002780 0 0 CRY2 1408 broad.mit.edu 37 11 45880390 45880390 + Missense_Mutation SNP A A T rs145426016 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:45880390A>T ENST00000443527.2 + 3 518 c.496A>T c.(496-498)Acg>Tcg p.T166S CRY2_ENST00000473199.1_3'UTR|CRY2_ENST00000417225.2_Missense_Mutation_p.T84S NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 145 DNA photolyase. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 GGAAGTAGTGACGGAGAATTC 0.507000 9 33 0 0 0.001368 0 0 SPG20 23111 broad.mit.edu 37 13 36909680 36909680 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:36909680C>A ENST00000451493.1 - 2 505 c.288G>T c.(286-288)gaG>gaT p.E96D SPG20_ENST00000355182.4_Missense_Mutation_p.E96D|SPG20_ENST00000438666.2_Missense_Mutation_p.E96D|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.E96D NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 96 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CAAGACCCTTCTCTAGAATTT 0.448000 23 72 5.35047e-06 6.58367e-06 0.003330 1 0 CDX4 1046 broad.mit.edu 37 X 72667506 72667506 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:72667506G>T ENST00000373514.2 + 1 417 c.417G>T c.(415-417)acG>acT p.T139T NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 139 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) TTGTCCCGACGGACGCAGGCG 0.657000 15 29 1.3612e-06 1.7099e-06 0.003163 1 0 CNTN1 1272 broad.mit.edu 37 12 41365289 41365289 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:41365289T>A ENST00000547849.1 + 16 2177 c.1858T>A c.(1858-1860)Tgt>Agt p.C620S CNTN1_ENST00000547702.1_Missense_Mutation_p.C620S|CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Missense_Mutation_p.C620S|CNTN1_ENST00000347616.1_Intron NM_001256064.1 NP_001242993.1 Q12860 CNTN1_HUMAN contactin 1 0 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCTCCCCGTCTGTGCAAGCCT 0.418000 6 35 0 0 0.001168 0 0 AMBN 258 broad.mit.edu 37 4 71467241 71467241 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:71467241C>T ENST00000322937.6 + 6 504 c.401C>T c.(400-402)aCc>aTc p.T134I AMBN_ENST00000449493.2_Missense_Mutation_p.T119I NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 134 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel p.T134I(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) GCTGCAACCACCAACCAGGCC 0.547000 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 103 0 0 0.008740 0 0 LRP1B 53353 broad.mit.edu 37 2 141641553 141641553 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:141641553C>A ENST00000389484.3 - 25 4973 c.4002G>T c.(4000-4002)ctG>ctT p.L1334L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1334 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTGGAGTAGCCAGGCCATGCT 0.473000 TSP Lung(27;0.18) 33 105 2.20474e-14 3.50008e-14 0.003755 1 0 DNAH7 56171 broad.mit.edu 37 2 196801370 196801370 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:196801370G>A ENST00000312428.6 - 20 3325 c.3225C>T c.(3223-3225)tcC>tcT p.S1075S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1075 Stem (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 GTTCATCATTGGACAAAAAAA 0.313000 18 52 0 0 0.008871 0 0 TRPM1 4308 broad.mit.edu 37 15 31362303 31362303 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:31362303G>A ENST00000542188.1 - 3 574 c.261C>T c.(259-261)acC>acT p.T87T TRPM1_ENST00000559179.1_Silent_p.T48T|TRPM1_ENST00000397795.2_Silent_p.T48T|TRPM1_ENST00000256552.6_Silent_p.T70T NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 48 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGTAGCTCTGGGTGTGCTTGG 0.493000 98 334 0 0 0.003610 0 0 CHST1 8534 broad.mit.edu 37 11 45672284 45672284 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:45672284G>T ENST00000308064.2 - 4 860 c.190C>A c.(190-192)Ctc>Atc p.L64I NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 64 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCCAGGATGAGGATGTGGGTC 0.647000 15 63 0.00316338 0.00356756 0.003163 1 0 FAM199X 139231 broad.mit.edu 37 X 103431193 103431193 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:103431193G>T ENST00000493442.1 + 4 786 c.620G>T c.(619-621)cGg>cTg p.R207L FAM199X_ENST00000299906.5_3'UTR NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 207 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 ATGGGTCTTCGGGAGCAACTT 0.353000 34 58 9.17885e-22 1.59068e-21 0.003271 1 0 C17orf70 80233 broad.mit.edu 37 17 79514713 79514713 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:79514713G>A ENST00000425898.2 - 1 811 c.342C>T c.(340-342)gtC>gtT p.V114V C17orf70_ENST00000537152.1_Intron|C17orf70_ENST00000327787.8_Intron Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 465 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CTCTGCGAAGGACAGACATGA 0.592000 28 71 0 0 0.007291 0 0 DPYS 1807 broad.mit.edu 37 8 105405054 105405054 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:105405054T>A ENST00000351513.2 - 8 1533 c.1401A>T c.(1399-1401)ccA>ccT p.P467P DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 467 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) ATTCAGCAAATGGTTTTCGAG 0.488000 34 177 0 0 0.003271 0 0 CACHD1 57685 broad.mit.edu 37 1 65047888 65047888 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:65047888A>G ENST00000371073.2 + 3 311 c.311A>G c.(310-312)aAt>aGt p.N104S CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.N53S Q5VU97 CAHD1_HUMAN cache domain containing 1 104 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GATGTGGTCAATCGGAACAAG 0.443000 15 56 0 0 0.003163 0 0 KLHL6 89857 broad.mit.edu 37 3 183217574 183217574 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:183217574C>A ENST00000341319.3 - 4 986 c.951G>T c.(949-951)caG>caT p.Q317H NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 317 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ACACCTCAGACTGGAACTCAT 0.572000 10 19 1.58986e-06 1.98958e-06 0.008291 1 0 HYDIN 54768 broad.mit.edu 37 16 70986483 70986483 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:70986483G>T ENST00000393567.2 - 41 6522 c.6372C>A c.(6370-6372)gaC>gaA p.D2124E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2124 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGCCCAAGGTGTCAGTGCTCA 0.498000 11 33 3.86212e-05 4.61502e-05 0.008291 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236734 140236734 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:140236734C>G ENST00000307360.5 + 1 1101 c.1101C>G c.(1099-1101)gtC>gtG p.V367V PCDHA10_ENST00000506939.2_Silent_p.V367V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCACCGTCATTGCCCTAA 0.507000 34 61 0 0 0.003271 0 0 RYR2 6262 broad.mit.edu 37 1 237982471 237982471 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:237982471A>G ENST00000366574.2 + 101 14886 c.14569A>G c.(14569-14571)Att>Gtt p.I4857V RYR2_ENST00000360064.6_Missense_Mutation_p.I4863V|RYR2_ENST00000542537.1_Missense_Mutation_p.I4841V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4857 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) TGTTATTGTCATTCTCTTGGC 0.408000 32 100 0 0 0.002836 0 0 CHID1 66005 broad.mit.edu 37 11 883186 883186 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:883186C>T ENST00000449825.1 - 10 1277 c.921G>A c.(919-921)gcG>gcA p.A307A CHID1_ENST00000323541.7_Silent_p.A337A|CHID1_ENST00000454838.2_Silent_p.A332A|CHID1_ENST00000528581.1_Silent_p.A332A|CHID1_ENST00000323578.8_Silent_p.A307A|CHID1_ENST00000336845.5_Silent_p.A332A|CHID1_ENST00000436108.2_Silent_p.A307A|CHID1_ENST00000429789.2_Silent_p.A276A|CHID1_ENST00000526714.1_5'UTR NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 307 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCTTGGAGGTCGCGTAGTCCA 0.632000 34 104 0 0 0.002445 0 0 TFAP2B 7021 broad.mit.edu 37 6 50786607 50786607 + Translation_Start_Site SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:50786607G>T ENST00000263046.4 + 1 169 c.3G>T c.(1-3)atG>atT p.M1I TFAP2B_ENST00000393655.3_Start_Codon_SNP_p.M1I Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 1 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TCACATGAATGCACTCACCTC 0.502000 4 34 5.9392e-07 7.57563e-07 0.001168 1 0 NWD1 284434 broad.mit.edu 37 19 16861059 16861059 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:16861059C>A ENST00000524140.2 + 6 2024 c.1606C>A c.(1606-1608)Ctg>Atg p.L536M NWD1_ENST00000379808.3_Missense_Mutation_p.L536M|NWD1_ENST00000339803.6_Missense_Mutation_p.L401M|NWD1_ENST00000552788.1_Missense_Mutation_p.L536M|NWD1_ENST00000549814.1_Missense_Mutation_p.L536M|NWD1_ENST00000523826.1_Missense_Mutation_p.L330M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 536 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCCAGGGCGGCTGAGGCTGGC 0.647000 11 45 6.40141e-05 7.59451e-05 0.000978 1 0 FKBP6 8468 broad.mit.edu 37 7 72744232 72744232 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:72744232C>A ENST00000252037.4 + 4 414 c.345C>A c.(343-345)aaC>aaA p.N115K FKBP6_ENST00000413573.2_Missense_Mutation_p.N85K|FKBP6_ENST00000431982.2_Missense_Mutation_p.N110K NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 115 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TCAAACCGAACTACGCCTATG 0.537000 52 34 1.81118e-26 3.27596e-26 0.003610 1 0 DEPTOR 64798 broad.mit.edu 37 8 121021282 121021282 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:121021282G>T ENST00000286234.5 + 8 1141 c.1011G>T c.(1009-1011)gcG>gcT p.A337A DEPTOR_ENST00000523492.1_Silent_p.A236A|DEPTOR_ENST00000518057.1_3'UTR NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 337 PDZ. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 TTGGTGACGCGGTTGGCTGGG 0.542000 7 45 0.000274275 0.00031743 0.004482 1 0 PTPRG 5793 broad.mit.edu 37 3 61547990 61547990 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:61547990G>T ENST00000474889.1 + 1 406 c.29G>T c.(28-30)tGg>tTg p.W10L PTPRG_ENST00000295874.10_Missense_Mutation_p.W10L|PTPRG_ENST00000495879.1_3'UTR NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 10 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCGTGTTGGTGGATTTTGTTC 0.572000 33 68 6.90743e-12 1.02989e-11 0.003755 1 0 OR4D11 219986 broad.mit.edu 37 11 59271633 59271633 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:59271633T>A ENST00000313253.1 + 1 585 c.585T>A c.(583-585)ctT>ctA p.L195L NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTTTTGCTCTTGAGTTCTTGA 0.488000 59 139 0 0 0.003610 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945713 16945713 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:16945713C>A ENST00000412962.1 - 0 1806 CTGAGTGTGCCACTGCAGGTG 0.602000 21 133 6.21321e-17 1.03606e-16 0.002780 1 0 VSIG4 11326 broad.mit.edu 37 X 65242194 65242194 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:65242194C>T ENST00000374737.4 - 8 1219 c.1111G>A c.(1111-1113)Gcc>Acc p.A371T VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.A277T NM_001257403.1|NM_007268.2 NP_001244332.1|NP_009199.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 371 complement activation, alternative pathway integral to membrane protein binding p.A371T(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTGATCTGGGCGATGATCTGG 0.517000 25 45 0 0 0.003954 0 0 ST3GAL4 6484 broad.mit.edu 37 11 126283519 126283519 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:126283519G>T ENST00000526727.1 + 9 1265 c.891G>T c.(889-891)gaG>gaT p.E297D ST3GAL4_ENST00000534457.1_Missense_Mutation_p.E292D|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.E297D|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.E296D|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.E293D|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.E303D|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.E286D|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.E297D|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.E293D Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 297 post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) ACTACTATGAGCAGATCACGC 0.597000 19 68 4.96729e-08 6.62973e-08 0.008871 1 0 DCSTAMP 81501 broad.mit.edu 37 8 105361787 105361787 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:105361787T>A ENST00000297581.2 + 2 1056 c.1007T>A c.(1006-1008)gTt>gAt p.V336D DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 336 osteoclast differentiation cell surface|integral to membrane|plasma membrane GGGTTTGAGGTTCACTTGAAA 0.488000 36 149 0 0 0.005524 0 0 FAM154A 158297 broad.mit.edu 37 9 18950780 18950780 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:18950780G>A ENST00000380534.4 - 2 473 c.194C>T c.(193-195)cCa>cTa p.P65L FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Missense_Mutation_p.P65L|FAM154A_ENST00000542071.1_5'UTR NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 65 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GCCTTCCATTGGTATAGGCCC 0.448000 17 107 0 0 0.008871 0 0 ZNF473 25888 broad.mit.edu 37 19 50545052 50545052 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:50545052G>A ENST00000595661.1 + 5 697 c.202G>A c.(202-204)Gga>Aga p.G68R ZNF473_ENST00000445728.3_Missense_Mutation_p.G56R|ZNF473_ENST00000601364.1_Missense_Mutation_p.G68R|ZNF473_ENST00000270617.3_Missense_Mutation_p.G68R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G68R Q8WTR7 ZN473_HUMAN zinc finger protein 473 68 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TCTGGCAGGAGGAAGCCCAGA 0.592000 17 108 0 0 0.006122 0 0 PER2 8864 broad.mit.edu 37 2 239161729 239161729 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:239161729G>T ENST00000254657.3 - 19 3214 c.2935C>A c.(2935-2937)Ccg>Acg p.P979T AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 979 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TGAAAGAGCGGTGGGGAGGCC 0.682000 23 43 1.96895e-08 2.67648e-08 0.002780 1 0 F7 2155 broad.mit.edu 37 13 113768231 113768231 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:113768231C>T ENST00000375581.3 + 5 422 c.387C>T c.(385-387)atC>atT p.I129I F7_ENST00000473085.1_3'UTR|F7_ENST00000541084.1_Silent_p.I60I|F7_ENST00000346342.3_Silent_p.I107I NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 129 EGF-like 1; calcium-binding (Potential). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity p.I129I(1) large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AGTCCTATATCTGCTTCTGCC 0.602000 5 89 0 0 0.001168 0 0 SCN3A 6328 broad.mit.edu 37 2 166019212 166019212 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:166019212C>T ENST00000360093.3 - 8 1312 c.821G>A c.(820-822)aGg>aAg p.R274K SCN3A_ENST00000283254.7_Missense_Mutation_p.R274K|SCN3A_ENST00000409101.3_Missense_Mutation_p.R274K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 274 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ACATTTATTCCTCAGATTGCC 0.443000 27 72 0 0 0.005443 0 0 KPNA4 3840 broad.mit.edu 37 3 160239566 160239566 + Splice_Site SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:160239566C>T ENST00000334256.4 - 11 1209 c.e11+1 NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AACAAACTTACCTGAACTTTA 0.348000 7 78 0 0 0.004482 0 0 GBX1 2636 broad.mit.edu 37 7 150846032 150846032 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:150846032C>G ENST00000297537.4 - 2 735 c.736G>C c.(736-738)Gag>Cag p.E246Q NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 246 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTGCCCCCTCCTCAGCTCCA 0.617000 31 158 0 0 0.002096 0 0 ANXA5 308 broad.mit.edu 37 4 122589682 122589682 + Splice_Site SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:122589682C>T ENST00000296511.5 - 13 1189 c.903_splice c.e13-1 p.G302_splice ANXA5_ENST00000501272.2_Splice_Site_p.G242_splice|ANXA5_ENST00000515017.1_Splice_Site_p.G202_splice NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 302 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 GATGTATCTCCCTGAAACCAA 0.423000 5 56 0 0 0.003080 0 0 PIGS 94005 broad.mit.edu 37 17 26890891 26890891 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:26890891G>T ENST00000308360.7 - 4 696 c.321C>A c.(319-321)gcC>gcA p.A107A PIGS_ENST00000395346.2_Silent_p.A99A|PIGS_ENST00000543734.1_Silent_p.A46A NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 107 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCCTCCGATAGGCCTTCTGGA 0.507000 38 108 8.01111e-26 1.44113e-25 0.002522 1 0 MMP7 4316 broad.mit.edu 37 11 102395788 102395788 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:102395788C>A ENST00000260227.4 - 4 544 c.492G>T c.(490-492)ggG>ggT p.G164G NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 164 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) GGTAGGAGTCCCCATGAGCTG 0.443000 14 28 6.31663e-08 8.3968e-08 0.003163 1 0 CSMD2 114784 broad.mit.edu 37 1 34083126 34083126 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:34083126G>T ENST00000373381.4 - 38 6095 c.5919C>A c.(5917-5919)ttC>ttA p.F1973L CSMD2_ENST00000373388.2_Missense_Mutation_p.F72L|CSMD2_ENST00000373380.1_Missense_Mutation_p.F846L|CSMD2_ENST00000373377.1_Missense_Mutation_p.F72L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1933 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTCACACTGGAAAGACACCA 0.587000 8 37 5.18039e-06 6.39817e-06 0.003080 1 0 HM13 81502 broad.mit.edu 37 20 30155996 30155996 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr20:30155996C>T ENST00000335574.5 + 12 1274 c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C HM13_ENST00000340852.5_Intron|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000398174.3_Missense_Mutation_p.R384C|HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_Intron NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 0 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AGCTGGCCCTCGCCGCCGGCG 0.692000 6 35 0 0 0.001984 0 0 ITIH5 80760 broad.mit.edu 37 10 7618933 7618933 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:7618933G>A ENST00000256861.6 - 10 1539 c.1461C>T c.(1459-1461)cgC>cgT p.R487R ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.R487R|ITIH5_ENST00000298441.6_Silent_p.R273R|ITIH5_ENST00000446830.2_Silent_p.R269R|ITIH5_ENST00000397145.2_Silent_p.R487R NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 487 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GATAATCGATGCGGATGTCAG 0.592000 8 45 0 0 0.003080 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054719 102054719 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:102054719A>G ENST00000318222.3 - 8 1900 c.1518T>C c.(1516-1518)ttT>ttC p.F506F PKD2L1_ENST00000338519.3_Silent_p.F431F|PKD2L1_ENST00000353274.3_Silent_p.F506F NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 506 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGAAAGTGCTAAAGTTTTCCA 0.542000 12 18 0 0 0.000978 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801933 24801933 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:24801933A>T ENST00000395799.3 + 6 2099 c.1970A>T c.(1969-1971)aAt>aTt p.N657I TNRC6A_ENST00000315183.7_Missense_Mutation_p.N657I NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 657 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTCAGACAAATGAGCAAAGC 0.468000 21 29 0 0 0.002299 0 0 SYN1 6853 broad.mit.edu 37 X 47466576 47466576 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:47466576T>A ENST00000295987.7 - 2 523 c.399A>T c.(397-399)aaA>aaT p.K133N SYN1_ENST00000340666.4_Missense_Mutation_p.K133N NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 133 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 CATGGATCTTTTTCCCTTTGA 0.428000 16 28 0 0 0.004990 0 0 KIAA0922 23240 broad.mit.edu 37 4 154525336 154525336 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:154525336G>A ENST00000409663.3 + 25 3221 c.3169G>A c.(3169-3171)Gaa>Aaa p.E1057K KIAA0922_ENST00000440693.1_Missense_Mutation_p.E974K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1058K NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1057 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GAATAAAGAAGAAAACACACT 0.378000 11 57 0 0 0.008291 0 0 LEF1 51176 broad.mit.edu 37 4 109084820 109084820 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:109084820G>T ENST00000379951.2 - 3 1506 c.318C>A c.(316-318)ccC>ccA p.P106P LEF1_ENST00000438313.2_Silent_p.P106P|LEF1_ENST00000510624.1_Silent_p.P38P|LEF1_ENST00000265165.1_Silent_p.P106P|LEF1_ENST00000512172.1_Silent_p.P38P NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 106 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) TCGAGTAGGAGGGTCCCTTGT 0.423000 10 38 2.74318e-10 3.94779e-10 0.006214 1 0 PXDNL 137902 broad.mit.edu 37 8 52387588 52387588 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:52387588G>T ENST00000356297.4 - 7 738 c.638C>A c.(637-639)cCc>cAc p.P213H PXDNL_ENST00000543296.1_Missense_Mutation_p.P213H NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 213 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GAGTCTCCTGGGATATTCGCA 0.498000 6 13 0.00116845 0.00132678 0.001168 1 0 CACNA1B 774 broad.mit.edu 37 9 140878624 140878624 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:140878624C>A ENST00000371372.1 + 13 1836 c.1691C>A c.(1690-1692)gCg>gAg p.A564E CACNA1B_ENST00000371363.1_Missense_Mutation_p.A564E|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A564E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A565E|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A565E NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 564 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTGGTCTGGGCGGCCATCAAG 0.602000 5 5 0.00116845 0.00132678 0.001168 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178557085 178557085 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:178557085C>T ENST00000251582.7 - 16 2406 c.2305G>A c.(2305-2307)Gag>Aag p.E769K NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 769 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TTGCCTGTCTCCAGGTTCTTG 0.567000 12 29 0 0 0.001855 0 0 ZNF436-AS1 148898 broad.mit.edu 37 1 23695808 23695808 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:23695808C>G ENST00000335648.3 + 1 80 c.18C>G c.(16-18)gtC>gtG p.V6V C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000437367.2_Silent_p.V6V|C1orf213_ENST00000454117.1_Silent_p.V6V|C1orf213_ENST00000518821.1_Silent_p.V6V|ZNF436_ENST00000314011.4_Intron kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) CAGTCCCTGTCCGGTTGAAGG 0.612000 5 53 0 0 0.001168 0 0 NALCN 259232 broad.mit.edu 37 13 101890140 101890140 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:101890140G>A ENST00000251127.6 - 12 1481 c.1400C>T c.(1399-1401)cCa>cTa p.P467L NALCN_ENST00000376196.3_Missense_Mutation_p.P467L|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 467 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATAAAGATCTGGGTATACATG 0.323000 16 228 0 0 0.004990 0 0 WDR45 11152 broad.mit.edu 37 X 48933220 48933220 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:48933220G>C ENST00000356463.3 - 9 1150 c.712C>G c.(712-714)Cct>Gct p.P238A WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000376372.3_Missense_Mutation_p.P237A|WDR45_ENST00000376358.3_Missense_Mutation_p.P135A|WDR45_ENST00000376368.2_Missense_Mutation_p.P238A|WDR45_ENST00000553851.1_Missense_Mutation_p.P135A|WDR45_ENST00000322995.8_Missense_Mutation_p.P248A|WDR45_ENST00000396681.4_Missense_Mutation_p.P237A|WDR45_ENST00000485908.1_Missense_Mutation_p.P202A|WDR45_ENST00000473974.1_Missense_Mutation_p.P237A NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 237 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 AGGGTGGCAGGGTCAGTGCCT 0.557000 17 40 0 0 0.008871 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123253683 123253683 + Nonsense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:123253683T>A ENST00000349780.4 - 13 1563 c.1384A>T c.(1384-1386)Aag>Tag p.K462* CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.K462*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.K462* NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 462 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AGAAGACTCTTGTAACGATTT 0.343000 12 38 0 0 0.000978 0 0 BCORL1 63035 broad.mit.edu 37 X 129148822 129148822 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:129148822G>T ENST00000540052.1 + 3 2118 c.2074G>T c.(2074-2076)Gag>Tag p.E692* BCORL1_ENST00000218147.7_Nonsense_Mutation_p.E692*|BCORL1_ENST00000359304.2_Nonsense_Mutation_p.E692*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.E692* NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 692 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.E692K(1) breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CATCTTTCCCGAGATCGTGAG 0.602000 34 68 4.11147e-13 6.2859e-13 0.003755 1 0 AMER1 139285 broad.mit.edu 37 X 63410715 63410715 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:63410715C>A ENST00000330258.3 - 2 2724 c.2452G>T c.(2452-2454)Ggg>Tgg p.G818W AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TTGCCTTCCCCATCCCGTTCC 0.507000 12 38 9.05144e-12 1.34351e-11 0.001855 1 0 RASA3 22821 broad.mit.edu 37 13 114780772 114780772 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:114780772C>T ENST00000334062.7 - 14 1439 c.1318G>A c.(1318-1320)Gcc>Acc p.A440T RASA3_ENST00000389544.4_Missense_Mutation_p.A408T NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 440 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TCAGTGATGGCGTGGAAGACG 0.647000 10 81 0 0 0.008291 0 0 ERCC6 2074 broad.mit.edu 37 10 50732561 50732561 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:50732561T>A ENST00000355832.5 - 5 993 c.915A>T c.(913-915)ccA>ccT p.P305P ERCC6-PGBD3_ENST00000447839.2_Silent_p.P305P|ERCC6-PGBD3_ENST00000515869.1_Silent_p.P305P|PGBD3_ENST00000603152.1_Silent_p.P305P NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 305 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCACTGGGGCTGGAGGCGTGA 0.423000 Direct reversal of damage;Nucleotide excision repair (NER) 33 103 0 0 0.002836 0 0 GPRASP2 114928 broad.mit.edu 37 X 101970102 101970102 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:101970102C>A ENST00000543253.1 + 5 1224 c.305C>A c.(304-306)gCc>gAc p.A102D GPRASP2_ENST00000535209.1_Missense_Mutation_p.A102D|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A102D NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 AAAACCGATGCCAGGGCAGTA 0.577000 61 166 8.52622e-23 1.50516e-22 0.003610 1 0 BRINP3 339479 broad.mit.edu 37 1 190067356 190067356 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:190067356G>A ENST00000367462.3 - 8 2324 c.2093C>T c.(2092-2094)tCa>tTa p.S698L FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S596L NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 698 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAAAAGTGCTGAATCCTGGGA 0.468000 6 100 0 0 0.001984 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559770 44559770 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:44559770C>T ENST00000332567.4 - 1 2218 c.1866G>A c.(1864-1866)atG>atA p.M622I KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 622 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TATTCGTTGTCATTACTCTCA 0.502000 52 71 0 0 0.003610 0 0 NAP1L1 4673 broad.mit.edu 37 12 76444406 76444406 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:76444406C>G ENST00000261182.8 - 12 1450 c.964G>C c.(964-966)Gca>Cca p.A322P NAP1L1_ENST00000547993.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A281P|NAP1L1_ENST00000547773.1_Missense_Mutation_p.A259P|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A139P|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A322P|NAP1L1_ENST00000535020.2_Missense_Mutation_p.A322P|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A254P|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A280P|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A333P|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A322P NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 322 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) TCGAAGTCTGCAGCAAGGATA 0.348000 17 24 0 0 0.004007 0 0 GSTA1 2938 broad.mit.edu 37 6 52657738 52657738 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:52657738G>T ENST00000334575.5 - 6 617 c.462C>A c.(460-462)agC>agA p.S154R GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 154 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TGTCAGCCCGGCTCAGCTTGT 0.517000 27 128 1.75199e-13 2.70985e-13 0.007291 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132041 91132041 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:91132041G>A ENST00000373094.1 + 2 1647 c.802G>A c.(802-804)Gtg>Atg p.V268M PCDH11X_ENST00000373097.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V268M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V268M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V268M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V268M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V268M NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 268 Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AGGCACTTCAGTGACACAGCT 0.428000 28 55 0 0 0.003610 0 0 LCP1 3936 broad.mit.edu 37 13 46716508 46716508 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:46716508G>A ENST00000398576.2 - 16 1809 c.1421C>T c.(1420-1422)tCc>tTc p.S474F LCP1_ENST00000323076.2_Missense_Mutation_p.S474F|LCP1_ENST00000435666.2_Missense_Mutation_p.S43F P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 474 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GCCAACCAGGGAGAACTTCGC 0.438000 T BCL6 NHL 21 47 0 0 0.002299 0 0 WSCD2 9671 broad.mit.edu 37 12 108634140 108634140 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:108634140C>A ENST00000332082.4 + 9 1982 c.1164C>A c.(1162-1164)gaC>gaA p.D388E WSCD2_ENST00000261400.3_Missense_Mutation_p.D388E|WSCD2_ENST00000547525.1_Missense_Mutation_p.D388E|WSCD2_ENST00000549903.1_Missense_Mutation_p.D388E Q2TBF2 WSCD2_HUMAN WSC domain containing 2 388 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GTGAGCGGGACCACTGGCGCA 0.622000 11 144 7.93312e-07 1.00608e-06 0.002450 1 0 CLOCK 9575 broad.mit.edu 37 4 56342213 56342213 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:56342213C>A ENST00000309964.4 - 6 515 c.265G>T c.(265-267)Gca>Tca p.A89S CLOCK_ENST00000513440.1_Missense_Mutation_p.A89S|CLOCK_ENST00000381322.1_Missense_Mutation_p.A89S NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 89 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) TCTGACTGTGCAGTGATTTCT 0.378000 11 33 2.27111e-07 2.94222e-07 0.001368 1 0 SIRPB1 10326 broad.mit.edu 37 20 1559157 1559157 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr20:1559157G>T ENST00000381605.4 - 2 324 c.260C>A c.(259-261)cCa>cAa p.P87Q SIRPB1_ENST00000381603.3_Missense_Mutation_p.P87Q|SIRPB1_ENST00000262929.5_Missense_Mutation_p.P86Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P87Q NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 87 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 TGTTACCCGTGGGAAGTGGCC 0.507000 74 74 7.07328e-35 1.30796e-34 0.003610 1 0 ANK2 287 broad.mit.edu 37 4 114279870 114279870 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:114279870A>T ENST00000357077.4 + 38 10149 c.10096A>T c.(10096-10098)Acc>Tcc p.T3366S ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T3333S NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3333 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGATCTAGACACCTCTGTCCA 0.463000 35 62 0 0 0.003271 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423683 107423683 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:107423683G>T ENST00000340010.5 - 9 1270 c.1086C>A c.(1084-1086)tcC>tcA p.S362S SLC26A3_ENST00000422236.2_Silent_p.S327S NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 362 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CGTATTTGAGGGAATAGACGC 0.423000 29 35 1.32181e-22 2.32105e-22 0.007291 1 0 C2orf78 388960 broad.mit.edu 37 2 74041004 74041004 + Nonsense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:74041004T>A ENST00000409561.1 + 2 619 c.498T>A c.(496-498)taT>taA p.Y166* NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 166 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 CCCAGTATTATAAAACTTCAG 0.443000 13 22 0 0 0.001855 0 0 ZEB1 6935 broad.mit.edu 37 10 31816173 31816173 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:31816173A>G ENST00000446923.2 + 9 3699 c.3308A>G c.(3307-3309)gAa>gGa p.E1103G ZEB1_ENST00000560721.2_Missense_Mutation_p.E1099G|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1120G|ZEB1_ENST00000320985.10_Missense_Mutation_p.E1119G|ZEB1_ENST00000542815.3_Missense_Mutation_p.E1052G NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 1119 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GTGTCTGAAGAAAAGACAAAT 0.368000 3 9 0 0 0.000248 0 0 ITGA4 3676 broad.mit.edu 37 2 182358123 182358123 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:182358123G>A ENST00000397033.2 + 11 1655 c.1225G>A c.(1225-1227)Ggg>Agg p.G409R NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 409 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CCGTGCAGATGGGATCTCGTC 0.373000 18 34 0 0 0.007413 0 0 EZH1 2145 broad.mit.edu 37 17 40858171 40858171 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:40858171T>C ENST00000428826.2 - 16 1814 c.1693A>G c.(1693-1695)Acc>Gcc p.T565A EZH1_ENST00000590078.1_Missense_Mutation_p.T495A|EZH1_ENST00000435174.1_Missense_Mutation_p.T426A|EZH1_ENST00000590783.1_Intron|EZH1_ENST00000415827.2_Missense_Mutation_p.T556A|EZH1_ENST00000585893.1_Missense_Mutation_p.T525A|EZH1_ENST00000592743.1_Missense_Mutation_p.T565A Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 565 Cys-rich. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TTGCACTGGGTCTTACAGCGA 0.517000 6 101 0 0 0.001984 0 0 SLC5A1 6523 broad.mit.edu 37 22 32482216 32482216 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:32482216C>T ENST00000266088.4 + 10 1281 c.1031C>T c.(1030-1032)gCc>gTc p.A344V SLC5A1_ENST00000543737.1_Missense_Mutation_p.A217V NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 344 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GAAAAAATTGCCTGTGTCGTC 0.448000 28 105 0 0 0.004289 0 0 CXorf22 170063 broad.mit.edu 37 X 35969947 35969947 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:35969947A>T ENST00000297866.5 + 6 979 c.913A>T c.(913-915)Att>Ttt p.I305F NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 305 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AAGAACAGATATTGCTTTAAA 0.284000 12 52 0 0 0.001368 0 0 ZNF264 9422 broad.mit.edu 37 19 57716786 57716786 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:57716786A>T ENST00000263095.6 + 3 596 c.182A>T c.(181-183)gAg>gTg p.E61V ZNF264_ENST00000536056.1_Missense_Mutation_p.E61V NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCCAAAGCTGAGCTGATCTGC 0.512000 7 21 0 0 0.001984 0 0 LTBP4 8425 broad.mit.edu 37 19 41105444 41105444 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:41105444T>A ENST00000308370.7 + 3 323 c.323T>A c.(322-324)cTc>cAc p.L108H LTBP4_ENST00000204005.9_Missense_Mutation_p.L71H|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_5'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 108 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGTGTCCCTCAACTGGCAG 0.637000 18 95 0 0 0.001523 0 0 KPRP 448834 broad.mit.edu 37 1 152733235 152733235 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:152733235T>C ENST00000368773.1 + 2 1229 c.1171T>C c.(1171-1173)Tgt>Cgt p.C391R KPRP_ENST00000606109.1_Missense_Mutation_p.C391R NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 391 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTGACCAGTGTCCAGAGTC 0.642000 20 56 0 0 0.001523 0 0 CLEC16A 23274 broad.mit.edu 37 16 11118744 11118744 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:11118744G>C ENST00000409790.1 + 13 1733 c.1503G>C c.(1501-1503)gtG>gtC p.V501V CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.V483V NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 501 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCCTGTTCGTGCTCTGCCTCC 0.547000 9 10 0 0 0.006214 0 0 PDIA2 64714 broad.mit.edu 37 16 335128 335128 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:335128C>G ENST00000219406.6 + 5 741 c.723C>G c.(721-723)ggC>ggG p.G241G PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.G238G NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 241 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) AGGAGCTTGGCCTGGACCTGG 0.662000 9 27 0 0 0.004482 0 0 GSTA5 221357 broad.mit.edu 37 6 52701069 52701069 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:52701069G>T ENST00000370989.1 - 4 395 c.237C>A c.(235-237)taC>taA p.Y79* GSTA5_ENST00000284562.2_Nonsense_Mutation_p.Y79*|GSTA5_ENST00000475052.1_Intron Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 79 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) CATAAAGGTTGTATTTGCTGG 0.433000 47 116 2.77807e-22 4.85246e-22 0.003214 1 0 ESPNL 339768 broad.mit.edu 37 2 239016588 239016588 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:239016588G>C ENST00000343063.3 + 4 1092 c.829G>C c.(829-831)Gac>Cac p.D277H ESPNL_ENST00000409169.1_Missense_Mutation_p.D277H NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 277 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCCCCTCCACGACGCAGCAGA 0.637000 11 27 0 0 0.001368 0 0 IL10RB 3588 broad.mit.edu 37 21 34660564 34660564 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:34660564G>C ENST00000290200.2 + 6 910 c.802G>C c.(802-804)Gag>Cag p.E268Q NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 GCACCTGAAAGAGGTAGGTAG 0.493000 15 57 0 0 0.004007 0 0 GP2 2813 broad.mit.edu 37 16 20335250 20335250 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:20335250C>A ENST00000302555.5 - 3 572 c.423G>T c.(421-423)tgG>tgT p.W141C GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.W141C P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 141 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGTTGCCACTCCAATGGGCAC 0.592000 24 66 5.35356e-11 7.78913e-11 0.002780 1 0 GORAB 92344 broad.mit.edu 37 1 170521193 170521193 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:170521193G>T ENST00000367763.3 + 5 795 c.775G>T c.(775-777)Gca>Tca p.A259S NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 259 Necessary for interaction with RCHY1. Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 GTACATTGCAGCAAAGCTAGA 0.418000 41 99 1.32136e-16 2.18139e-16 0.008740 1 0 TTC21B 79809 broad.mit.edu 37 2 166797562 166797562 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:166797562C>A ENST00000243344.7 - 6 822 c.685G>T c.(685-687)Gac>Tac p.D229Y AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 229 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 ACTGTCTGGTCCCAATCCTGC 0.388000 16 50 9.16793e-09 1.26178e-08 0.004990 1 0 MKRN3 7681 broad.mit.edu 37 15 23811369 23811369 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:23811369C>A ENST00000314520.3 + 1 916 c.440C>A c.(439-441)gCg>gAg p.A147E MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 147 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.A147V(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGCACGGCTGCGCACATCGAG 0.632000 7 29 5.18039e-06 6.39817e-06 0.003080 1 0 IDS 3423 broad.mit.edu 37 X 148564645 148564645 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:148564645C>T ENST00000340855.6 - 9 1494 c.1285G>A c.(1285-1287)Gtt>Att p.V429I IDS_ENST00000541269.1_Missense_Mutation_p.V218I|IDS_ENST00000537071.1_Missense_Mutation_p.V32I|AF011889.5_ENST00000422081.1_RNA NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 429 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CACAGCTCAACGTGAAATGAA 0.527000 52 90 0 0 0.003610 0 0 SLC6A14 11254 broad.mit.edu 37 X 115572134 115572134 + Splice_Site SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:115572134G>T ENST00000371900.4 + 3 303 c.214_splice c.e3-1 p.G72_splice NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 72 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CCTTTTTTAGGCGCCTTCTTG 0.403000 90 316 1.15966e-41 2.17477e-41 0.003610 1 0 TFIP11 24144 broad.mit.edu 37 22 26895444 26895444 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:26895444C>T ENST00000407690.1 - 9 1238 c.955G>A c.(955-957)Gag>Aag p.E319K TFIP11_ENST00000407431.1_Missense_Mutation_p.E319K|TFIP11_ENST00000407148.1_Missense_Mutation_p.E319K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E319K NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 319 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 TGCTCCAGCTCGGGCAGCGCG 0.612000 16 90 0 0 0.004007 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171849423 171849423 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:171849423G>A ENST00000311601.5 - 2 323 c.153C>T c.(151-153)ctC>ctT p.L51L SH3PXD2B_ENST00000519643.1_Silent_p.L51L NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 51 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCCTTACCTGGAGGTCAAAAA 0.488000 7 18 0 0 0.001984 0 0 FOXO4 4303 broad.mit.edu 37 X 70321242 70321242 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:70321242C>A ENST00000374259.3 + 2 1494 c.1162C>A c.(1162-1164)Ccc>Acc p.P388T FOXO4_ENST00000341558.3_Missense_Mutation_p.P333T NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 388 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) CCAGGTAGATCCCATTCTGTC 0.637000 21 67 5.26018e-13 8.02359e-13 0.001882 1 0 GPI 2821 broad.mit.edu 37 19 34859521 34859521 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:34859521C>T ENST00000415930.3 + 5 603 c.433C>T c.(433-435)Cgg>Tgg p.R145W GPI_ENST00000586425.1_Missense_Mutation_p.R106W|GPI_ENST00000356487.5_Missense_Mutation_p.R106W NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 106 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) TCTGCGGAACCGGTCAAACAC 0.582000 5 55 0 0 0.001168 0 0 INPP1 3628 broad.mit.edu 37 2 191233942 191233942 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:191233942G>T ENST00000392329.2 + 6 1280 c.580G>T c.(580-582)Ggg>Tgg p.G194W INPP1_ENST00000322522.4_Missense_Mutation_p.G194W|INPP1_ENST00000541441.1_Missense_Mutation_p.G194W NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 194 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) CATACAGACAGGGGTTCCCCT 0.408000 38 84 3.43241e-23 6.07556e-23 0.002222 1 0 PRPF8 10594 broad.mit.edu 37 17 1554421 1554421 + Silent SNP C C A rs147050234 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:1554421C>A ENST00000572621.1 - 41 7099 c.6834G>T c.(6832-6834)tcG>tcT p.S2278S PRPF8_ENST00000304992.6_Silent_p.S2278S Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2278 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTAGTTCCACGAGGACTGGG 0.577000 15 20 1.3612e-06 1.7099e-06 0.003163 1 0 TTN 7273 broad.mit.edu 37 2 179576905 179576905 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:179576905C>A ENST00000589042.1 - 96 27876 c.27652G>T c.(27652-27654)Gtt>Ttt p.V9218F TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V8901F|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7974F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8901 Ig-like 75. 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) GAATCTCCAACAGACACCTTA 0.458000 24 78 5.35047e-06 6.58367e-06 0.003330 1 0 TTF1 7270 broad.mit.edu 37 9 135267523 135267523 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:135267523C>A ENST00000334270.2 - 6 1966 c.1927G>T c.(1927-1929)Ggt>Tgt p.G643C NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 643 Myb-like 1. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACCATCTCACCAATCGTCTTC 0.488000 15 23 1.49906e-05 1.81754e-05 0.002450 1 0 EPHA6 285220 broad.mit.edu 37 3 96706376 96706376 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:96706376C>T ENST00000389672.5 + 3 691 c.653C>T c.(652-654)aCa>aTa p.T218I EPHA6_ENST00000542517.1_Missense_Mutation_p.T124I|EPHA6_ENST00000470610.2_Missense_Mutation_p.T218I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 123 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGCAAAGAAACATTTAATCTG 0.393000 45 106 0 0 0.008740 0 0 AMBRA1 55626 broad.mit.edu 37 11 46430094 46430094 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:46430094C>A ENST00000458649.2 - 17 3790 c.3372G>T c.(3370-3372)gaG>gaT p.E1124D AMBRA1_ENST00000298834.3_Missense_Mutation_p.E1064D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E1034D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E1095D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E1005D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E1095D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E1064D Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 1124 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CTGTCCCTGGCTCCGGCACCT 0.637000 19 24 1.55795e-14 2.47923e-14 0.001882 1 0 ARHGAP4 393 broad.mit.edu 37 X 153186130 153186130 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:153186130C>T ENST00000370028.3 - 5 688 c.631G>A c.(631-633)Ggg>Agg p.G211R ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G188R|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.G211R|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G190R NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 211 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGAGGGGCCCTGCCTCAGTG 0.692000 27 76 0 0 0.005443 0 0 CNTN4 152330 broad.mit.edu 37 3 2787225 2787225 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:2787225G>T ENST00000397461.1 + 5 586 c.202G>T c.(202-204)Gat>Tat p.D68Y CNTN4_ENST00000418658.1_Missense_Mutation_p.D68Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.D68Y NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 68 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAATGGAACAGATGTTGACAC 0.348000 13 66 1.49906e-05 1.81754e-05 0.002450 1 0 CSMD3 114788 broad.mit.edu 37 8 113418829 113418829 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:113418829A>G ENST00000297405.5 - 35 5977 c.5733T>C c.(5731-5733)caT>caC p.H1911H CSMD3_ENST00000352409.3_Silent_p.H1841H|CSMD3_ENST00000343508.3_Silent_p.H1871H|CSMD3_ENST00000455883.2_Silent_p.H1807H NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1911 Sushi 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTATGGATCCATGGAGAATAT 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 45 0 0 0.001168 0 0 RBM44 375316 broad.mit.edu 37 2 238725983 238725983 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:238725983G>A ENST00000316997.4 + 3 556 c.424G>A c.(424-426)Gag>Aag p.E142K RBM44_ENST00000409864.1_Missense_Mutation_p.E142K|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 141 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GCAGAAAAAAGAGGAGGTTTT 0.308000 8 9 0 0 0.003080 0 0 KRTAP19-1 337882 broad.mit.edu 37 21 31852534 31852534 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:31852534G>T ENST00000390689.2 - 1 129 c.103C>A c.(103-105)Cgg>Agg p.R35R NM_181607.1 NP_853638.1 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 35 26 X 2 AA repeats of G-[YCGS]. intermediate filament cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CCAGAACCCCGTCTGCAGAAG 0.587000 78 240 4.00405e-42 7.53034e-42 0.003610 1 0 SSPO 23145 broad.mit.edu 37 7 149515769 149515769 + RNA SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:149515769C>T ENST00000378016.2 + 0 11670 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTCCTGGTCCCCCTGCTCCA 0.682000 14 39 0 0 0.003163 0 0 FOXI1 2299 broad.mit.edu 37 5 169535566 169535566 + Missense_Mutation SNP G G T rs150705492 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:169535566G>T ENST00000449804.2 + 2 848 c.803G>T c.(802-804)aGt>aTt p.S268I FOXI1_ENST00000306268.6_Missense_Mutation_p.S363I NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 363 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTACAACAGTGTCAACACC 0.572000 Pendred syndrome 31 36 2.46105e-21 4.25383e-21 0.002096 1 0 NGF 4803 broad.mit.edu 37 1 115829133 115829133 + Missense_Mutation SNP C C A rs150136942 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:115829133C>A ENST00000369512.2 - 3 452 c.284G>T c.(283-285)cGt>cTt p.R95L RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 95 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding p.R95H(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TGCAGCTTCACGGGGAGGCTG 0.602000 17 37 1.02788e-11 1.51888e-11 0.004990 1 0 POLD2 5425 broad.mit.edu 37 7 44156578 44156578 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:44156578G>A ENST00000406581.2 - 7 1267 c.618C>T c.(616-618)ggC>ggT p.G206G POLD2_ENST00000223361.3_Silent_p.G206G|POLD2_ENST00000452185.1_Silent_p.G206G NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 206 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 CGCCTCCACCGCCACCCAGGC 0.692000 20 20 0 0 0.001523 0 0 BAI2 576 broad.mit.edu 37 1 32196416 32196416 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:32196416C>A ENST00000373658.3 - 29 4706 c.4365G>T c.(4363-4365)aaG>aaT p.K1455N BAI2_ENST00000527361.1_Missense_Mutation_p.K1422N|BAI2_ENST00000398538.1_Missense_Mutation_p.K1443N|BAI2_ENST00000257070.4_Missense_Mutation_p.K1422N|BAI2_ENST00000373655.2_Missense_Mutation_p.K1455N|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.K1388N|BAI2_ENST00000398542.1_Missense_Mutation_p.K1355N|BAI2_ENST00000398556.3_Missense_Mutation_p.K1370N|BAI2_ENST00000440175.2_Missense_Mutation_p.K1064N NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1455 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGGAGCCCATCTTCATGGTAG 0.672000 29 66 3.69857e-22 6.44329e-22 0.008361 1 0 DNAH8 1769 broad.mit.edu 37 6 38783335 38783335 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:38783335G>T ENST00000359357.3 + 24 3028 c.2774G>T c.(2773-2775)gGg>gTg p.G925V DNAH8_ENST00000449981.2_Missense_Mutation_p.G1142V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G925V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCTCACTGGGGGCAACAGCAA 0.488000 16 24 4.7546e-09 6.6125e-09 0.004007 1 0 PRDM9 56979 broad.mit.edu 37 5 23522775 23522775 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:23522775C>A ENST00000296682.3 + 8 845 c.663C>A c.(661-663)ccC>ccA p.P221P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 221 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CCCATGGGCCCCCTACATTTG 0.532000 HNSCC(3;0.000094) 16 46 2.23348e-06 2.77926e-06 0.004007 1 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 5 27 0 0 0.003080 0 0 KLHL4 56062 broad.mit.edu 37 X 86872999 86872999 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:86872999G>T ENST00000373119.4 + 4 937 c.792G>T c.(790-792)ctG>ctT p.L264L KLHL4_ENST00000373114.4_Silent_p.L264L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 264 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 TTCTGCAGCTGACTCAGGTCA 0.418000 16 52 0.00074312 0.000849647 0.006122 1 0 FRAS1 80144 broad.mit.edu 37 4 79455609 79455609 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:79455609G>A ENST00000264895.6 + 71 11372 c.10932G>A c.(10930-10932)ctG>ctA p.L3644L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3639 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TTAGATTCCTGATACCCATTG 0.468000 9 132 0 0 0.000978 0 0 EIF2S3 1968 broad.mit.edu 37 X 24075597 24075597 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:24075597C>T ENST00000253039.4 + 3 446 c.193C>T c.(193-195)Cat>Tat p.H65Y NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 65 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 TTCTGGAGTTCATACTGTCAG 0.348000 9 41 0 0 0.004482 0 0 HUWE1 10075 broad.mit.edu 37 X 53577916 53577916 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:53577916G>C ENST00000342160.3 - 64 9788 c.9331C>G c.(9331-9333)Cgt>Ggt p.R3111G HUWE1_ENST00000262854.6_Missense_Mutation_p.R3111G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3111 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CCAAACAGACGCTCATGCATG 0.582000 6 60 0 0 0.001168 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641844 106641844 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:106641844C>A ENST00000390605.2 - 0 128 CCAGACTGCACCAGCTGAACC 0.582000 35 53 1.836e-18 3.10059e-18 0.003755 1 0 DOCK9 23348 broad.mit.edu 37 13 99549811 99549811 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:99549811G>A ENST00000376460.1 - 15 1720 c.1640C>T c.(1639-1641)gCc>gTc p.A547V DOCK9_ENST00000448493.2_Missense_Mutation_p.A559V|DOCK9_ENST00000442173.1_Missense_Mutation_p.A547V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A548V NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 548 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTGTAGATGGCAGAAAATCT 0.398000 57 198 0 0 0.003610 0 0 TXNDC12 51060 broad.mit.edu 37 1 52489195 52489195 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:52489195C>A ENST00000371626.4 - 6 1481 c.407G>T c.(406-408)aGc>aTc p.S136I TXNDC12_ENST00000472624.1_5'UTR NM_015913.3 NP_056997.1 O95831 AIFM1_HUMAN thioredoxin domain containing 12 (endoplasmic reticulum) 209 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 ATACTTGTAGCTGGGGTTTCC 0.418000 27 55 8.16721e-17 1.35167e-16 0.002096 1 0 IQGAP3 128239 broad.mit.edu 37 1 156507066 156507066 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:156507066T>A ENST00000361170.2 - 27 3339 c.3329A>T c.(3328-3330)gAg>gTg p.E1110V IQGAP3_ENST00000498755.1_5'UTR NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1110 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCTCTGGACCTCGGGGTGGCT 0.557000 26 49 0 0 0.003954 0 0 SNAP91 9892 broad.mit.edu 37 6 84375238 84375238 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:84375238C>T ENST00000428679.2 - 3 786 c.193G>A c.(193-195)Gag>Aag p.E65K SNAP91_ENST00000369694.2_Missense_Mutation_p.E65K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E65K|SNAP91_ENST00000520213.1_Missense_Mutation_p.E65K|SNAP91_ENST00000437520.1_Missense_Mutation_p.E65K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E65K|SNAP91_ENST00000521743.1_Missense_Mutation_p.E65K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E65K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E65K O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 65 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GTTGCCCGCTCAAAGAGAGTG 0.383000 26 140 0 0 0.003330 0 0 COG6 57511 broad.mit.edu 37 13 40233511 40233511 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:40233511A>T ENST00000416691.1 + 2 264 c.164A>T c.(163-165)gAa>gTa p.E55V COG6_ENST00000455146.3_Missense_Mutation_p.E55V NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 55 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) GAGATGTTAGAAGCTCTCAAG 0.323000 6 26 0 0 0.001168 0 0 ACSL5 51703 broad.mit.edu 37 10 114181795 114181795 + Splice_Site SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:114181795T>A ENST00000393081.1 + 16 1783 c.e16+2 ACSL5_ENST00000369410.3_Splice_Site|ACSL5_ENST00000354655.4_Splice_Site|ACSL5_ENST00000433418.1_Splice_Site|ACSL5_ENST00000354273.4_Splice_Site|ACSL5_ENST00000356116.1_Splice_Site NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GAAGGAGAGGTGGGTAGGTCA 0.458000 5 62 0 0 0.000602 0 0 GPR50 9248 broad.mit.edu 37 X 150349293 150349293 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:150349293C>A ENST00000218316.3 + 2 1307 c.1238C>A c.(1237-1239)gCt>gAt p.A413D NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 413 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CACTCCAAGGCTGCCTCTGGT 0.582000 125 354 2.91419e-48 5.51197e-48 0.003610 1 0 HAUS2 55142 broad.mit.edu 37 15 42850469 42850469 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:42850469T>G ENST00000260372.3 + 2 230 c.167T>G c.(166-168)aTt>aGt p.I56S HAUS2_ENST00000568846.2_Intron|HAUS2_ENST00000568876.1_Intron NM_018097.2 NP_060567.1 Q9NVX0 HAUS2_HUMAN HAUS augmin-like complex, subunit 2 56 cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly centrosome|cytosol|HAUS complex|microtubule|spindle endometrium(1)|large_intestine(1)|lung(1) 3 ATCACAAATATTCAAGCTGAA 0.333000 6 15 0 0 0.004482 0 0 OR4K17 390436 broad.mit.edu 37 14 20586569 20586569 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:20586569C>A ENST00000315543.4 + 1 1004 c.1004C>A c.(1003-1005)gCt>gAt p.A335D NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTCTGGAGAGCTTTTGTGAAT 0.378000 13 15 1.05317e-09 1.48974e-09 0.002450 1 0 ITGA9 3680 broad.mit.edu 37 3 37536029 37536029 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:37536029C>T ENST00000264741.5 + 5 838 c.582C>T c.(580-582)tgC>tgT p.C194C ITGA9_ENST00000422441.1_Silent_p.C194C NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 194 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) ACGGCTCCTGCCAGGCTGGGA 0.522000 12 27 0 0 0.001368 0 0 COLEC12 81035 broad.mit.edu 37 18 346601 346601 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:346601T>A ENST00000400256.3 - 5 1228 c.1021A>T c.(1021-1023)Acg>Tcg p.T341S NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 341 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) ACAATATCCGTCTCAAAGAGC 0.473000 22 26 0 0 0.001882 0 0 NWD1 284434 broad.mit.edu 37 19 16874727 16874727 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:16874727G>T ENST00000524140.2 + 9 2640 c.2222G>T c.(2221-2223)cGc>cTc p.R741L NWD1_ENST00000379808.3_Missense_Mutation_p.R741L|NWD1_ENST00000339803.6_Missense_Mutation_p.R606L|NWD1_ENST00000552788.1_Missense_Mutation_p.R741L|NWD1_ENST00000549814.1_Missense_Mutation_p.R741L|NWD1_ENST00000523826.1_Missense_Mutation_p.R535L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 741 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACTCGGGCCGCCTGGAGGAG 0.617000 21 32 1.2644e-06 1.59435e-06 0.001523 1 0 ARMC3 219681 broad.mit.edu 37 10 23326202 23326202 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:23326202C>G ENST00000298032.5 + 19 2497 c.2413C>G c.(2413-2415)Ctg>Gtg p.L805V ARMC3_ENST00000376528.4_Missense_Mutation_p.L542V|ARMC3_ENST00000409983.3_Missense_Mutation_p.L798V NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 805 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CCTGCAGGCTCTGGCTGATAG 0.493000 10 43 0 0 0.001855 0 0 COL6A2 1292 broad.mit.edu 37 21 47545884 47545884 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:47545884C>A ENST00000300527.4 + 26 2259 c.2155C>A c.(2155-2157)Cgg>Agg p.R719R COL6A2_ENST00000310645.5_Silent_p.R719R|COL6A2_ENST00000357838.4_Silent_p.R719R|COL6A2_ENST00000409416.1_Silent_p.R719R|COL6A2_ENST00000397763.1_Silent_p.R719R NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 719 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CAAGGAGAGCCGGCGCCAGAA 0.637000 14 52 4.36969e-10 6.26133e-10 0.001855 1 0 NPBWR1 2831 broad.mit.edu 37 8 53853136 53853136 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:53853136T>C ENST00000331251.3 + 1 2146 c.669T>C c.(667-669)taT>taC p.Y223Y NM_005285.3 NP_005276.2 P48145 NPBW1_HUMAN neuropeptides B/W receptor 1 223 synaptic transmission plasma membrane opioid receptor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2) 17 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GTGTCCTCTATACCACCCTGC 0.662000 7 13 0 0 0.001984 0 0 ABTB2 25841 broad.mit.edu 37 11 34218979 34218979 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:34218979C>A ENST00000435224.2 - 3 1561 c.1137G>T c.(1135-1137)tgG>tgT p.W379C ABTB2_ENST00000298992.2_Missense_Mutation_p.W193C|ABTB2_ENST00000530814.1_5'UTR NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 193 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CGTCGGGGGACCAAGTGATGG 0.662000 8 39 0.00307968 0.00347909 0.003080 1 0 ANO1 55107 broad.mit.edu 37 11 69970497 69970497 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:69970497G>C ENST00000355303.5 + 9 1244 c.939G>C c.(937-939)aaG>aaC p.K313N ANO1_ENST00000538023.1_Missense_Mutation_p.K313N|ANO1_ENST00000398543.2_Missense_Mutation_p.K197N|ANO1_ENST00000531349.1_Missense_Mutation_p.K48N|ANO1_ENST00000530676.1_Missense_Mutation_p.K197N|ANO1_ENST00000316296.5_Missense_Mutation_p.K285N NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 313 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 TTTTCTATAAGTACCAGCCCA 0.572000 8 28 0 0 0.006214 0 0 ZNF317 57693 broad.mit.edu 37 19 9269521 9269521 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:9269521A>T ENST00000247956.6 + 6 710 c.405A>T c.(403-405)aaA>aaT p.K135N ZNF317_ENST00000360385.3_Missense_Mutation_p.K103N NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 CTCCATCTAAAACCAAGTGGT 0.413000 4 26 0 0 0.000248 0 0 AQR 9716 broad.mit.edu 37 15 35174838 35174838 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:35174838T>A ENST00000156471.5 - 27 3255 c.3030A>T c.(3028-3030)gaA>gaT p.E1010D NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1010 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AGGCTCTGAATTCCTATGGAA 0.378000 7 30 0 0 0.004482 0 0 OR2W5 441932 broad.mit.edu 37 1 247654603 247654603 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:247654603C>A ENST00000522351.1 + 0 234 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCCACACACCCATGTACTTCT 0.498000 18 56 2.35188e-11 3.46758e-11 0.006122 1 0 FSHR 2492 broad.mit.edu 37 2 49190511 49190511 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:49190511G>C ENST00000406846.2 - 10 1568 c.1449C>G c.(1447-1449)ctC>ctG p.L483L FSHR_ENST00000304421.4_Silent_p.L457L|FSHR_ENST00000541117.1_Silent_p.L219L|FSHR_ENST00000346173.3_Silent_p.L421L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 483 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CAGCATGGCGGAGCTGCACCT 0.522000 Gonadal Dysgenesis, 46 XX 10 27 0 0 0.006214 0 0 TRPM7 54822 broad.mit.edu 37 15 50886737 50886737 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:50886737A>T ENST00000313478.7 - 24 3645 c.3364T>A c.(3364-3366)Tat>Aat p.Y1122N TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1122N NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1122 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTCTCATGATAAGCCATAATA 0.323000 10 49 0 0 0.006214 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459340 92459340 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:92459340G>T ENST00000318445.6 + 2 512 c.298G>T c.(298-300)Ggg>Tgg p.G100W SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G100W NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 100 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GAGCTACTTCGGGGCACGCGG 0.672000 10 37 7.48243e-07 9.50742e-07 0.006214 1 0 BBS2 583 broad.mit.edu 37 16 56545071 56545071 + Splice_Site SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:56545071C>G ENST00000245157.5 - 3 891 c.471_splice c.e3+1 p.T157_splice BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Splice_Site_p.T157_splice NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 157 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 TTCTTCATACCGTCCAAAAGA 0.363000 Bardet-Biedl syndrome 19 30 0 0 0.001523 0 0 RBM44 375316 broad.mit.edu 37 2 238726838 238726838 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:238726838G>T ENST00000316997.4 + 3 1411 c.1279G>T c.(1279-1281)Gat>Tat p.D427Y RBM44_ENST00000409864.1_Missense_Mutation_p.D427Y|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 426 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GGCAATAGAAGATAATACGTC 0.383000 23 31 6.44725e-10 9.17867e-10 0.002299 1 0 RNF34 80196 broad.mit.edu 37 12 121855448 121855448 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:121855448C>G ENST00000361234.5 + 3 539 c.367C>G c.(367-369)Ctg>Gtg p.L123V RNF34_ENST00000392464.2_Missense_Mutation_p.L123V|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Missense_Mutation_p.L124V NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 123 SAP 1. apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) GGTGAAGGACCTGCGGCAGTA 0.433000 16 54 0 0 0.003163 0 0 KMO 8564 broad.mit.edu 37 1 241729848 241729848 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:241729848A>T ENST00000366559.4 + 9 1056 c.745A>T c.(745-747)Acc>Tcc p.T249S KMO_ENST00000366558.3_Missense_Mutation_p.T249S|KMO_ENST00000366557.4_Missense_Mutation_p.T249S NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 249 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) AAAACTTCTAACCAGTAATGA 0.403000 23 67 0 0 0.001882 0 0 MYL3 4634 broad.mit.edu 37 3 46899892 46899892 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:46899892C>T ENST00000395869.1 - 5 592 c.541G>A c.(541-543)Ggc>Agc p.G181S MYL3_ENST00000292327.4_Missense_Mutation_p.G181S P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 181 EF-hand 3. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) TTGATGCAGCCATTGGAGTCC 0.607000 12 46 0 0 0.000978 0 0 WRN 7486 broad.mit.edu 37 8 30973963 30973963 + Silent SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:30973963A>T ENST00000298139.5 + 20 2616 c.2367A>T c.(2365-2367)ctA>ctT p.L789L NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 789 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AACTGAATCTATCCTGTGGAA 0.388000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 13 42 0 0 0.003163 0 0 NARG2 79664 broad.mit.edu 37 15 60760341 60760341 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:60760341C>A ENST00000261520.4 - 4 561 c.327G>T c.(325-327)gtG>gtT p.V109V NARG2_ENST00000439632.1_5'UTR|NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000561114.1_Silent_p.V109V NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 109 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCAACAAGTCCACATAACTCC 0.368000 9 27 3.09899e-07 3.97583e-07 0.004482 1 0 CSF2RB 1439 broad.mit.edu 37 22 37325452 37325452 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:37325452C>G ENST00000262825.5 + 5 617 c.400C>G c.(400-402)Cct>Gct p.P134A CSF2RB_ENST00000406230.1_Missense_Mutation_p.P134A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P75A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P134A NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 134 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AGTCCAGCCTCCTGAGCCCAG 0.652000 23 131 0 0 0.003954 0 0 TBX4 9496 broad.mit.edu 37 17 59556073 59556073 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:59556073C>A ENST00000393853.4 + 6 798 c.635C>A c.(634-636)aCt>aAt p.T212N TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.T212N P57082 TBX4_HUMAN T-box 4 212 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TCCAAAAACACTGCTTTCTGC 0.537000 28 127 1.75199e-13 2.70985e-13 0.007291 1 0 TNR 7143 broad.mit.edu 37 1 175332844 175332844 + Splice_Site SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:175332844C>A ENST00000367674.1 - 13 3415 c.2707_splice c.e13+1 p.V903_splice TNR_ENST00000263525.2_Splice_Site_p.V903_splice NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 903 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACTTTGTTACCTTGGGTGGGT 0.448000 21 56 9.95505e-16 1.61131e-15 0.002299 1 0 MMP17 4326 broad.mit.edu 37 12 132335517 132335517 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:132335517G>T ENST00000360564.1 + 10 1612 c.1510G>T c.(1510-1512)Ggc>Tgc p.G504C MMP17_ENST00000535291.1_Missense_Mutation_p.G420C|MMP17_ENST00000535004.1_Missense_Mutation_p.G44C NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 504 Hemopexin-like 4. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) AGTGCTGGATGGCGAGCTGGA 0.652000 7 18 0.00621372 0.00694845 0.006214 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79058942 79058942 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:79058942G>C ENST00000388820.4 - 19 3521 c.3311C>G c.(3310-3312)gCg>gGg p.A1104G NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1104 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CGTGGAGGGCGCAGCAGGATG 0.677000 4 27 0 0 0.000248 0 0 LRP1B 53353 broad.mit.edu 37 2 141660631 141660631 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:141660631G>T ENST00000389484.3 - 23 4595 c.3624C>A c.(3622-3624)gaC>gaA p.D1208E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1208 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGTTTTATTGTCTTTGTTGA 0.428000 TSP Lung(27;0.18) 14 49 1.52009e-12 2.29226e-12 0.003163 1 0 ABCA6 23460 broad.mit.edu 37 17 67108373 67108373 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:67108373C>T ENST00000284425.2 - 16 2257 c.2083G>A c.(2083-2085)Ggt>Agt p.G695S NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 695 ABC transporter 1. 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) ATAGAAGAACCTGCACACTTC 0.368000 49 183 0 0 0.003610 0 0 EXOC6B 23233 broad.mit.edu 37 2 72742214 72742214 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:72742214C>T ENST00000272427.6 - 9 1087 c.957G>A c.(955-957)agG>agA p.R319R EXOC6B_ENST00000410104.1_Silent_p.R319R NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 319 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 CCTGTTTTCGCCTCTGTTTTC 0.378000 4 18 0 0 0.000248 0 0 MKI67 4288 broad.mit.edu 37 10 129913899 129913899 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:129913899A>T ENST00000368654.3 - 7 1148 c.773T>A c.(772-774)cTa>cAa p.L258Q MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 258 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ACAATACTGTAGGACATTTTC 0.378000 6 18 0 0 0.001168 0 0 CTNND2 1501 broad.mit.edu 37 5 11022887 11022887 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:11022887C>A ENST00000304623.8 - 17 3182 c.2993G>T c.(2992-2994)gGa>gTa p.G998V CTNND2_ENST00000503622.1_Missense_Mutation_p.G661V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G940V|CTNND2_ENST00000511377.1_Missense_Mutation_p.G907V|CTNND2_ENST00000458100.2_Missense_Mutation_p.G565V NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 998 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTACTTATCTCCTTTGCTTTT 0.483000 30 47 2.80507e-11 4.11742e-11 0.002445 1 0 CKAP5 9793 broad.mit.edu 37 11 46839864 46839864 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:46839864C>A ENST00000529230.1 - 3 294 c.248G>T c.(247-249)gGa>gTa p.G83V CKAP5_ENST00000415402.1_Missense_Mutation_p.G83V|CKAP5_ENST00000354558.3_Missense_Mutation_p.G83V|CKAP5_ENST00000312055.5_Missense_Mutation_p.G83V Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 83 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TACTTACTTTCCTGCTACATG 0.338000 9 69 0.00448238 0.00503792 0.004482 1 0 FRG1B 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 6 60 0 0 0.001984 0 0 HOXB3 3213 broad.mit.edu 37 17 46627892 46627892 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:46627892C>A ENST00000470495.1 - 2 2547 c.1100G>T c.(1099-1101)gGc>gTc p.G367V HOXB3_ENST00000498678.1_Missense_Mutation_p.G367V|HOXB3_ENST00000476342.1_Missense_Mutation_p.G367V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G294V|HOXB3_ENST00000485909.2_Missense_Mutation_p.G235V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.G233V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.G367V|HOXB3_ENST00000460160.1_Missense_Mutation_p.G235V|HOXB3_ENST00000489475.1_Missense_Mutation_p.G294V P14651 HXB3_HUMAN homeobox B3 367 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GAGGGAGGGGCCGGCAGGGGG 0.716000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 29 1.5739e-10 2.27493e-10 0.004007 1 0 ANK2 287 broad.mit.edu 37 4 114286264 114286264 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:114286264C>A ENST00000357077.4 + 41 11011 c.10958C>A c.(10957-10959)aCa>aAa p.T3653K ANK2_ENST00000394537.3_Missense_Mutation_p.T1568K|ANK2_ENST00000509550.1_Missense_Mutation_p.T744K|ANK2_ENST00000506722.1_Missense_Mutation_p.T1559K|ANK2_ENST00000510275.2_Missense_Mutation_p.T220K|ANK2_ENST00000264366.6_Missense_Mutation_p.T3620K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3620 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.T3653K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGACCAACACAGAACCTCTC 0.413000 12 59 7.03913e-09 9.7284e-09 0.001368 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947582 57947582 + Silent SNP C C A rs139135884 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:57947582C>A ENST00000335397.3 + 3 982 c.666C>A c.(664-666)atC>atA p.I222I NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TGTTTATCATCGTGGCCATCA 0.512000 34 93 4.39465e-27 7.99246e-27 0.002836 1 0 ZNF99 7652 broad.mit.edu 37 19 22952090 22952090 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:22952090C>G ENST00000397104.3 - 2 102 c.103G>C c.(103-105)Gct>Cct p.A35P ZNF99_ENST00000596209.1_Missense_Mutation_p.A14P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCCTCCAGAGCGAATTCTATG 0.408000 28 56 0 0 0.006320 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739806 91739806 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:91739806G>T ENST00000389857.6 - 30 5336 c.5250C>A c.(5248-5250)taC>taA p.Y1750* CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.Y274* NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1750 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTGGCTTTACGTACTGCCCGG 0.667000 9 10 1.76689e-08 2.40676e-08 0.006214 1 0 DOCK2 1794 broad.mit.edu 37 5 169145670 169145670 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:169145670G>T ENST00000256935.8 + 22 2222 c.2142G>T c.(2140-2142)atG>atT p.M714I DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.M206I NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 714 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) GGAAATTGATGACAGTGCTGA 0.368000 17 17 1.99824e-07 2.59888e-07 0.004990 1 0 DMD 1756 broad.mit.edu 37 X 32407680 32407680 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:32407680G>A ENST00000357033.4 - 32 4662 c.4456C>T c.(4456-4458)Cct>Tct p.P1486S DMD_ENST00000378677.2_Missense_Mutation_p.P1482S NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1486 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCAATGCAGGCAAGTGCATC 0.413000 23 54 0 0 0.002780 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059831 79059831 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:79059831T>A ENST00000388820.4 - 18 2959 c.2749A>T c.(2749-2751)Agc>Tgc p.S917C ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 917 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TCCAGGGCGCTCTGCTCATCC 0.701000 8 13 0 0 0.003080 0 0 PTPRC 5788 broad.mit.edu 37 1 198703530 198703530 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:198703530C>A ENST00000367376.2 + 22 2418 c.2247C>A c.(2245-2247)gtC>gtA p.V749V PTPRC_ENST00000352140.3_Silent_p.V701V|PTPRC_ENST00000442510.2_Silent_p.V751V|PTPRC_ENST00000594404.1_Silent_p.V588V|PTPRC_ENST00000348564.6_Silent_p.V590V NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 749 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTGTCATGGTCACTCGATGTG 0.418000 103 251 5.12507e-49 9.72149e-49 0.003610 1 0 BCHE 590 broad.mit.edu 37 3 165547481 165547481 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:165547481G>T ENST00000264381.3 - 2 1507 c.1341C>A c.(1339-1341)taC>taA p.Y447* BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 447 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GTTCAAAATAGTAGAAAAAGG 0.428000 18 56 1.33834e-09 1.88106e-09 0.007413 1 0 VWF 7450 broad.mit.edu 37 12 6182846 6182846 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:6182846G>T ENST00000261405.5 - 8 1190 c.936C>A c.(934-936)tgC>tgA p.C312* NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 312 TIL 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCAGGCTCTGGCAGGTCCTGG 0.542000 12 75 9.05144e-12 1.34351e-11 0.001855 1 0 CACNA1I 8911 broad.mit.edu 37 22 40066944 40066944 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:40066944C>T ENST00000336649.4 + 29 4542 c.4542C>T c.(4540-4542)caC>caT p.H1514H CACNA1I_ENST00000404898.1_Silent_p.H1473H|CACNA1I_ENST00000407673.1_Silent_p.H1473H|CACNA1I_ENST00000402142.3_Silent_p.H1508H|CACNA1I_ENST00000401624.1_Silent_p.H1508H|CACNA1I_ENST00000400164.3_Silent_p.H1473H Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1508 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCCTGGAGCACTACAATCAGC 0.602000 15 69 0 0 0.004007 0 0 BEND5 79656 broad.mit.edu 37 1 49224782 49224782 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:49224782G>C ENST00000371833.3 - 3 621 c.535C>G c.(535-537)Ccc>Gcc p.P179A AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 179 large_intestine(5)|lung(2)|skin(1) 8 AGAGCCCGGGGCACCACAGCA 0.627000 21 47 0 0 0.001523 0 0 GGT3P 2679 broad.mit.edu 37 22 18769203 18769203 + RNA SNP G G A rs111245818 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:18769203G>A ENST00000412448.1 - 0 1083 AGCCAGCCGCGGCAGGGTCAG 0.637000 9 40 0 0 0.006214 0 0 CACNA1E 777 broad.mit.edu 37 1 181764028 181764028 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:181764028G>T ENST00000526775.1 + 44 6035 c.5870G>T c.(5869-5871)cGt>cTt p.R1957L CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1583L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1976L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1908L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2000L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2019L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1970L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2019 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 TCCATGAGACGTTCATTTTCC 0.468000 14 43 2.48551e-13 3.82652e-13 0.004990 1 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709587 31709587 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:31709587C>A ENST00000382835.2 - 1 425 c.400G>T c.(400-402)Gca>Tca p.A134S NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 134 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 TTGAGGCTTGCAGGTTGGCAG 0.483000 41 175 3.4345e-17 5.74151e-17 0.002852 1 0 C6orf118 168090 broad.mit.edu 37 6 165715399 165715399 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:165715399G>T ENST00000543069.1 - 2 681 c.100C>A c.(100-102)Ctt>Att p.L34I C6orf118_ENST00000230301.8_Missense_Mutation_p.L138I Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 138 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GTGTGGGAAAGAGAGGCCTGG 0.617000 6 135 1.06961e-07 1.41053e-07 0.003080 1 0 B3GALT5 10317 broad.mit.edu 37 21 41032852 41032852 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:41032852G>T ENST00000380620.3 + 5 958 c.366G>T c.(364-366)aaG>aaT p.K122N B3GALT5_ENST00000343118.4_Missense_Mutation_p.K122N|B3GALT5_ENST00000398714.2_Missense_Mutation_p.K122N|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.K122N Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 122 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) TTATCCAGAAGGATTTCCTAG 0.522000 18 61 6.49762e-13 9.88833e-13 0.006122 1 0 RBMX 27316 broad.mit.edu 37 X 135956515 135956515 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:135956515C>A ENST00000320676.7 - 9 1116 c.962G>T c.(961-963)gGt>gTt p.G321V RBMX_ENST00000565438.1_Missense_Mutation_p.G193V|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Missense_Mutation_p.G186V NM_002139.3 NP_002130.2 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 321 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TCGACTTCCACCATATCCGTC 0.532000 15 302 4.11147e-13 6.2859e-13 0.003755 1 0 TMEM38B 55151 broad.mit.edu 37 9 108483876 108483876 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:108483876G>T ENST00000374688.1 + 3 876 c.166G>T c.(166-168)Gtt>Ttt p.V56F TMEM38B_ENST00000374692.3_Missense_Mutation_p.V110F Q9NVV0 TM38B_HUMAN transmembrane protein 38B 110 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 ATATCTACCTGTTCAACTACT 0.363000 10 29 0.00010058 0.000118688 0.001368 1 0 SBK1 388228 broad.mit.edu 37 16 28328794 28328794 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:28328794G>T ENST00000341901.4 + 2 871 c.82G>T c.(82-84)Ggt>Tgt p.G28C NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 28 cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GCCTGGTGCCGGTGTGCCCCT 0.672000 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 67 4.72057e-08 6.31317e-08 0.003954 1 0 CDR1 1038 broad.mit.edu 37 X 139866350 139866350 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:139866350G>T ENST00000370532.2 - 1 373 c.182C>A c.(181-183)aCg>aAg p.T61K NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 61 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CAGGAAATCCGTGTCTTCCAG 0.438000 84 185 1.26005e-42 2.37651e-42 0.003610 1 0 SMUG1 23583 broad.mit.edu 37 12 54577464 54577464 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:54577464T>A ENST00000505128.1 - 3 383 c.261A>T c.(259-261)ggA>ggT p.G87G SMUG1_ENST00000508394.2_Silent_p.G87G|SMUG1_ENST00000514196.1_Silent_p.G87G|SMUG1_ENST00000506595.1_Silent_p.G87G|SMUG1_ENST00000513838.1_Silent_p.G87G|SMUG1_ENST00000243112.5_Silent_p.G87G|SMUG1_ENST00000514685.1_Silent_p.G87G|SMUG1_ENST00000337581.3_Silent_p.G87G|SMUG1_ENST00000505662.1_Intron|SMUG1_ENST00000401977.2_Silent_p.G87G Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 87 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 TGCCAAAAGGTCCAGGGTTCA 0.582000 Base excision repair (BER), DNA glycosylases 8 57 0 0 0.004482 0 0 KRT5 3852 broad.mit.edu 37 12 52911448 52911448 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:52911448C>A ENST00000252242.4 - 5 1408 c.1018G>T c.(1018-1020)Gct>Tct p.A340S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 340 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TTGACCTCAGCGATGATGCTA 0.577000 19 127 2.39187e-15 3.84918e-15 0.008871 1 0 SPI1 6688 broad.mit.edu 37 11 47381421 47381421 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:47381421G>A ENST00000378538.3 - 3 535 c.313C>T c.(313-315)Ccc>Tcc p.P105S SPI1_ENST00000227163.4_Missense_Mutation_p.P106S|SPI1_ENST00000533968.1_Missense_Mutation_p.P105S|SPI1_ENST00000533030.1_Intron NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 105 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) CCAAGACTGGGATGGGGTGGC 0.677000 22 40 0 0 0.004656 0 0 OR2C1 4993 broad.mit.edu 37 16 3406235 3406235 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:3406235A>G ENST00000304936.2 + 1 347 c.295A>G c.(295-297)Acc>Gcc p.T99A NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGGCTGCATAACCCAGCTCTA 0.567000 8 70 0 0 0.003080 0 0 BCAM 4059 broad.mit.edu 37 19 45322968 45322968 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:45322968G>T ENST00000391955.1 + 13 1792 c.1748G>T c.(1747-1749)cGg>cTg p.R583L BCAM_ENST00000270233.6_Missense_Mutation_p.R583L P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 583 cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CGCCAGCGGCGGGAGAAGGGG 0.637000 8 10 2.17888e-05 2.63215e-05 0.006214 1 0 FETUB 26998 broad.mit.edu 37 3 186358347 186358347 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:186358347C>T ENST00000265029.3 + 1 199 c.98C>T c.(97-99)tCc>tTc p.S33F FETUB_ENST00000450521.1_Missense_Mutation_p.S33F|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Missense_Mutation_p.S33F|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.S33F NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 33 Cystatin fetuin-B-type 1. S -> P (in dbSNP:rs34522046). extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GCTCTGCTCTCCCGGGGCTGC 0.577000 95 181 0 0 0.003610 0 0 SGCZ 137868 broad.mit.edu 37 8 13959971 13959971 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:13959971G>A ENST00000382080.1 - 7 1373 c.658C>T c.(658-660)Ccc>Tcc p.P220S SGCZ_ENST00000421524.2_Missense_Mutation_p.P173S NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 207 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ACCCCACGGGGAGCTTCCATG 0.448000 5 34 0 0 0.000602 0 0 AMY2A 279 broad.mit.edu 37 1 104163185 104163185 + Missense_Mutation SNP G G T rs142529431 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:104163185G>T ENST00000414303.2 + 5 821 c.757G>T c.(757-759)Ggt>Tgt p.G253C NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 253 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) AATTGATCTGGGTGGTGAGCC 0.348000 27 207 2.61675e-31 4.81192e-31 0.003214 1 0 TMPRSS7 344805 broad.mit.edu 37 3 111785291 111785291 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:111785291C>A ENST00000452346.2 + 13 1611 c.1608C>A c.(1606-1608)ctC>ctA p.L536L TMPRSS7_ENST00000419127.1_Silent_p.L410L Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 536 LDL-receptor class A 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATGGCCCTCTCATCTGTGATG 0.507000 25 95 5.45727e-16 8.85469e-16 0.008361 1 0 ZFP82 284406 broad.mit.edu 37 19 36884554 36884554 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:36884554C>A ENST00000392161.3 - 5 930 c.688G>T c.(688-690)Gaa>Taa p.E230* ZFP82_ENST00000392171.1_Nonsense_Mutation_p.E230* NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCCCACATTCCTTACATTCA 0.418000 15 84 1.5739e-10 2.27493e-10 0.004007 1 0 OR4A16 81327 broad.mit.edu 37 11 55111360 55111360 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:55111360G>A ENST00000314721.2 + 1 734 c.684G>A c.(682-684)caG>caA p.Q228Q NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CTTACAGTCAGGAAGAGAGGC 0.428000 19 104 0 0 0.006122 0 0 GBAS 2631 broad.mit.edu 37 7 56062641 56062641 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:56062641C>G ENST00000322090.3 + 8 701 c.672C>G c.(670-672)ttC>ttG p.F224L GBAS_ENST00000446778.1_Missense_Mutation_p.F185L NM_001483.2 NP_001474.1 O75323 NIPS2_HUMAN glioblastoma amplified sequence 224 integral to plasma membrane|membrane fraction|mitochondrion protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGGATTCTTCTCTCAGATTG 0.438000 4 99 0 0 0.000602 0 0 TRAF2 7186 broad.mit.edu 37 9 139814764 139814764 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:139814764G>C ENST00000359662.3 + 8 958 c.913G>C c.(913-915)Gag>Cag p.E305Q TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000536468.1_Missense_Mutation_p.E253Q|TRAF2_ENST00000247668.2_Missense_Mutation_p.E253Q Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 253 Missing (in Ref. 2; BAB70792). activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) CTCGGTGCTGGAGGCAAAGCC 0.622000 10 34 0 0 0.006214 0 0 SFMBT2 57713 broad.mit.edu 37 10 7214469 7214469 + Silent SNP C C A rs145957081 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:7214469C>A ENST00000361972.4 - 18 2229 c.2139G>T c.(2137-2139)gcG>gcT p.A713A SFMBT2_ENST00000397167.1_Silent_p.A713A NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 713 regulation of transcription, DNA-dependent nucleus p.A713A(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CCCCCGAGCCCGCGGTGAAGT 0.642000 7 17 0.00198382 0.00224494 0.001984 1 0 RIMS2 9699 broad.mit.edu 37 8 105025673 105025673 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:105025673T>G ENST00000507740.1 + 16 2726 c.2490T>G c.(2488-2490)gaT>gaG p.D830E RIMS2_ENST00000406091.3_Missense_Mutation_p.D1016E|RIMS2_ENST00000262231.10_Missense_Mutation_p.D855E|RIMS2_ENST00000436393.2_Intron NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1078 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTTTCAGGGATTGTGAAGCAG 0.448000 HNSCC(12;0.0054) 10 37 0 0 0.000978 0 0 SPATA20 64847 broad.mit.edu 37 17 48628411 48628411 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:48628411T>C ENST00000006658.6 + 12 1556 c.1436T>C c.(1435-1437)cTg>cCg p.L479P SPATA20_ENST00000393244.3_Missense_Mutation_p.L419P|SPATA20_ENST00000356488.4_Missense_Mutation_p.L463P|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 463 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CGGTACTCGCTGGAGCTGACT 0.642000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 36 0 0 0.000978 0 0 MED12 9968 broad.mit.edu 37 X 70345560 70345560 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:70345560T>G ENST00000333646.6 + 17 2618 c.2419T>G c.(2419-2421)Tta>Gta p.L807V MED12_ENST00000374080.3_Missense_Mutation_p.L807V|MED12_ENST00000374102.1_Missense_Mutation_p.L807V NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 807 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCTGACATTCTTAGGTACCTC 0.527000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 14 68 0 0 0.004007 0 0 UEVLD 55293 broad.mit.edu 37 11 18591865 18591865 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:18591865G>A ENST00000396197.3 - 4 281 c.253C>T c.(253-255)Cct>Tct p.P85S UEVLD_ENST00000379387.4_Missense_Mutation_p.P63S|UEVLD_ENST00000320750.6_Missense_Mutation_p.P63S|UEVLD_ENST00000535484.1_Missense_Mutation_p.P47S|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000300038.7_Missense_Mutation_p.P85S|UEVLD_ENST00000543987.1_Missense_Mutation_p.P85S|UEVLD_ENST00000541984.1_Intron NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 85 UEV. cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 AAGCAAATAGGGGGAGCGAAA 0.368000 8 26 0 0 0.004482 0 0 SLC22A16 85413 broad.mit.edu 37 6 110746269 110746269 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:110746269G>T ENST00000368919.3 - 8 1607 c.1541C>A c.(1540-1542)gCc>gAc p.A514D SLC22A16_ENST00000330550.4_Missense_Mutation_p.A480D NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 514 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ACTCAGGAGGGCCATAGTCCC 0.423000 16 42 3.41278e-10 4.90079e-10 0.004990 1 0 MARCH1 55016 broad.mit.edu 37 4 164534471 164534471 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:164534471G>A ENST00000503008.1 - 5 1213 c.237C>T c.(235-237)atC>atT p.I79I MARCH1_ENST00000514618.1_Silent_p.I79I|MARCH1_ENST00000274056.7_Silent_p.I79I|MARCH1_ENST00000339875.5_Silent_p.I62I NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 79 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTTACCTGCAGATGTCCTGAG 0.428000 7 66 0 0 0.004482 0 0 SLC6A11 6538 broad.mit.edu 37 3 10980044 10980044 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:10980044G>C ENST00000254488.2 + 14 1921 c.1855G>C c.(1855-1857)Gac>Cac p.D619H NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 619 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) ACTCAAGAGTGACGGGACCAT 0.552000 4 89 0 0 0.000602 0 0 URI1 8725 broad.mit.edu 37 19 30477230 30477230 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:30477230C>T ENST00000392271.1 + 4 570 c.45C>T c.(43-45)gtC>gtT p.V15V URI1_ENST00000360605.4_Silent_p.V73V|URI1_ENST00000312051.6_Silent_p.V51V|URI1_ENST00000542441.2_Silent_p.V91V NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 91 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding GAAAACTTGTCCATACTAATG 0.388000 17 86 0 0 0.007413 0 0 DST 667 broad.mit.edu 37 6 56341021 56341021 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:56341021T>C ENST00000370754.5 - 92 21696 c.21697A>G c.(21697-21699)Aca>Gca p.T7233A DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.T7055A|DST_ENST00000421834.2_Missense_Mutation_p.T4967A|DST_ENST00000446842.2_Missense_Mutation_p.T6729A|DST_ENST00000361203.3_Missense_Mutation_p.T6944A|DST_ENST00000244364.6_Missense_Mutation_p.T4641A|DST_ENST00000370788.2_Missense_Mutation_p.T4858A Q03001 DYST_HUMAN dystonin 7053 EF-hand 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCAGTAAGTGTAGTTTCAGCC 0.433000 7 18 0 0 0.003080 0 0 ZNF609 23060 broad.mit.edu 37 15 64966165 64966165 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:64966165G>T ENST00000326648.3 + 4 1240 c.1112G>T c.(1111-1113)aGa>aTa p.R371I ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 371 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGCCGGGGTAGAGGCAAACGC 0.498000 14 80 2.32078e-09 3.255e-09 0.003163 1 0 MYOZ3 91977 broad.mit.edu 37 5 150051463 150051463 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:150051463G>A ENST00000297130.4 + 5 616 c.417G>A c.(415-417)ctG>ctA p.L139L MYOZ3_ENST00000517768.1_Silent_p.L139L|CTC-345K18.2_ENST00000511626.2_RNA NM_001122853.2|NM_133371.4 NP_001116325.1|NP_588612.2 Q8TDC0 MYOZ3_HUMAN myozenin 3 139 sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGCGCCCTGGCGCCAGGTG 0.736000 4 4 0 0 0.000248 0 0 SEMG2 6407 broad.mit.edu 37 20 43851084 43851084 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr20:43851084A>G ENST00000372769.3 + 2 901 c.811A>G c.(811-813)Aaa>Gaa p.K271E NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 271 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ACACCAGACAAAAAATCTCAG 0.418000 29 25 0 0 0.006320 0 0 LRTM1 57408 broad.mit.edu 37 3 54958689 54958689 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:54958689G>T ENST00000273286.5 - 2 723 c.561C>A c.(559-561)caC>caA p.H187Q CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.H111Q NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 187 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GACCGAGCAAGTGGCAATTGC 0.468000 26 60 1.77063e-15 2.85892e-15 0.005443 1 0 STK11IP 114790 broad.mit.edu 37 2 220477903 220477903 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:220477903G>T ENST00000456909.1 + 20 2583 c.2493G>T c.(2491-2493)gtG>gtT p.V831V STK11IP_ENST00000295641.10_Silent_p.V842V Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 842 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGGTTGTGTCTGACCGCA 0.592000 7 38 3.09899e-07 3.97583e-07 0.004482 1 0 FBLN1 2192 broad.mit.edu 37 22 45929726 45929726 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:45929726G>T ENST00000348697.2 + 7 879 c.732G>T c.(730-732)cgG>cgT p.R244R FBLN1_ENST00000442170.2_Silent_p.R244R|FBLN1_ENST00000402984.3_Silent_p.R282R|FBLN1_ENST00000340923.5_Silent_p.R244R|FBLN1_ENST00000262722.7_Silent_p.R244R|FBLN1_ENST00000327858.6_Silent_p.R244R P23142 FBLN1_HUMAN fibulin 1 244 EGF-like 2; calcium-binding (Potential). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCTGCCAGCGGGACAGCAGCT 0.572000 40 136 1.06522e-23 1.90074e-23 0.003214 1 0 CDC5L 988 broad.mit.edu 37 6 44397514 44397514 + Nonsense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:44397514C>G ENST00000371477.3 + 14 2257 c.1958C>G c.(1957-1959)tCa>tGa p.S653* NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 653 Interaction with DAPK3 (By similarity). cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAGAGCTCTCAAGTGAAGCT 0.428000 15 63 0 0 0.004990 0 0 PAPOLG 64895 broad.mit.edu 37 2 60987422 60987422 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:60987422G>C ENST00000238714.3 + 2 420 c.171G>C c.(169-171)ttG>ttC p.L57F NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 57 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) AGGAAGAATTGAACCACAGGT 0.323000 4 40 0 0 0.000602 0 0 RBFOX1 54715 broad.mit.edu 37 16 7703849 7703849 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:7703849G>T ENST00000340209.4 + 9 1102 c.805G>T c.(805-807)Gcg>Tcg p.A269S RBFOX1_ENST00000355637.4_Missense_Mutation_p.A284S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A237S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A284S|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A221S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A307S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A284S|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A264S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A307S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A281S Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 264 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AGCCACCGCCGCGGCCGCCTA 0.711000 17 63 2.37509e-13 3.66506e-13 0.001523 1 0 MAGEC2 51438 broad.mit.edu 37 X 141291725 141291725 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:141291725G>T ENST00000247452.3 - 3 396 c.49C>A c.(49-51)Ccg>Acg p.P17T NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 17 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ACTGAGGTCGGGGAGTCGTTG 0.512000 HNSCC(46;0.14) 68 175 9.53695e-23 1.67911e-22 0.003610 1 0 SPATA21 374955 broad.mit.edu 37 1 16725938 16725938 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:16725938C>A ENST00000335496.1 - 12 1735 c.1253G>T c.(1252-1254)aGg>aTg p.R418M SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.R395M NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 418 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) GCTCGGCTGCCTACGGACCAT 0.597000 13 42 0.000151284 0.000177571 0.001855 1 0 CATSPERD 257062 broad.mit.edu 37 19 5745958 5745958 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:5745958G>T ENST00000381624.3 + 9 753 c.692G>T c.(691-693)cGg>cTg p.R231L CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 231 integral to membrane CCCCTCAACCGGAGTTTCGGG 0.527000 86 143 1.68737e-39 3.15547e-39 0.003610 1 0 TGFBR2 7048 broad.mit.edu 37 3 30713590 30713590 + Silent SNP C C T rs146030104 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:30713590C>T ENST00000295754.5 + 4 1297 c.915C>T c.(913-915)ctC>ctT p.L305L TGFBR2_ENST00000359013.4_Silent_p.L330L NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 305 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 AGAACATACTCCAGTTCCTGA 0.517000 18 64 0 0 0.007413 0 0 OR2W3 343171 broad.mit.edu 37 1 248059225 248059225 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:248059225C>A ENST00000537741.1 + 3 594 c.337C>A c.(337-339)Ctg>Atg p.L113M OR2W3_ENST00000360358.3_Missense_Mutation_p.L113M Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGTGGAGTGCCTGCTTCTGGC 0.572000 19 67 4.35082e-09 6.07646e-09 0.001523 1 0 MEPE 56955 broad.mit.edu 37 4 88766489 88766489 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:88766489C>A ENST00000497649.2 + 6 775 c.397C>A c.(397-399)Cca>Aca p.P133T MEPE_ENST00000540395.1_Missense_Mutation_p.P44T|MEPE_ENST00000424957.3_Missense_Mutation_p.P157T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.P157T|MEPE_ENST00000395102.4_Missense_Mutation_p.P188T|MEPE_ENST00000560249.1_Missense_Mutation_p.P44T Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 157 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TATAATGGGGCCAGTGACTGC 0.408000 20 29 2.27731e-05 2.74604e-05 0.001882 1 0 PCDH15 65217 broad.mit.edu 37 10 56287577 56287577 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:56287577C>T ENST00000373965.2 - 3 546 c.152G>A c.(151-153)cGg>cAg p.R51Q PCDH15_ENST00000414778.1_Missense_Mutation_p.R56Q|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R51Q|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000320301.6_Missense_Mutation_p.R51Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000395440.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000361849.3_Missense_Mutation_p.R51Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000437009.1_Missense_Mutation_p.R51Q|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 51 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTTACCATTCCGACTTTCTTC 0.338000 HNSCC(58;0.16) 8 37 0 0 0.006214 0 0 OR2M5 127059 broad.mit.edu 37 1 248308855 248308855 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:248308855A>T ENST00000366476.1 + 1 406 c.406A>T c.(406-408)Atg>Ttg p.M136L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACCAATCTCATGAGACCCAA 0.448000 67 356 0 0 0.003610 0 0 SRGAP1 57522 broad.mit.edu 37 12 64519823 64519823 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:64519823T>G ENST00000355086.3 + 19 2815 c.2291T>G c.(2290-2292)tTc>tGc p.F764C SRGAP1_ENST00000543397.1_Missense_Mutation_p.F701C|SRGAP1_ENST00000357825.3_Missense_Mutation_p.F741C NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 764 SH3. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) GAACTATCCTTCAAGAAGGGT 0.512000 12 53 0 0 0.000978 0 0 ADH6 130 broad.mit.edu 37 4 100131439 100131439 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:100131439G>T ENST00000394897.1 - 5 449 c.367C>A c.(367-369)Ctg>Atg p.L123M RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.L123M|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000237653.7_Missense_Mutation_p.L123M P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 123 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TCAGACATCAGTTGGGTTTTT 0.333000 17 40 4.75885e-15 7.62799e-15 0.004990 1 0 STARD8 9754 broad.mit.edu 37 X 67937571 67937571 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:67937571C>G ENST00000252336.6 + 5 947 c.575C>G c.(574-576)gCc>gGc p.A192G STARD8_ENST00000374599.3_Missense_Mutation_p.A272G|STARD8_ENST00000374597.3_Missense_Mutation_p.A192G NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 192 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 GGCAGTGGTGCCAATACTCGG 0.622000 27 58 0 0 0.006320 0 0 KIF19 124602 broad.mit.edu 37 17 72347009 72347009 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:72347009C>A ENST00000389916.4 + 12 1690 c.1552C>A c.(1552-1554)Ctg>Atg p.L518M AC103809.2_ENST00000599136.1_Missense_Mutation_p.R101M NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 518 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CATTGCAGCCCTGGTGGACGA 0.612000 51 120 2.23044e-30 4.07886e-30 0.003610 1 0 FBXL13 222235 broad.mit.edu 37 7 102517935 102517935 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:102517935A>G ENST00000393772.2 - 16 2040 c.1614T>C c.(1612-1614)tcT>tcC p.S538S FBXL13_ENST00000436908.1_Silent_p.S538S|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Silent_p.S538S|FBXL13_ENST00000379305.3_Silent_p.S538S|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Silent_p.S538S|FBXL13_ENST00000379308.3_Silent_p.S538S Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 538 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TGTCTGTTCCAGAGAGATCTA 0.284000 22 27 0 0 0.002780 0 0 TGM6 343641 broad.mit.edu 37 20 2381054 2381054 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr20:2381054G>T ENST00000202625.2 + 7 1014 c.953G>T c.(952-954)gGg>gTg p.G318V TGM6_ENST00000381423.1_Missense_Mutation_p.G318V|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 318 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GACTCCTTCGGGCGGACCCTG 0.617000 27 34 5.77227e-19 9.79806e-19 0.008361 1 0 LATS1 9113 broad.mit.edu 37 6 150004837 150004837 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:150004837T>C ENST00000543571.1 - 4 1935 c.1388A>G c.(1387-1389)aAt>aGt p.N463S LATS1_ENST00000392273.3_Missense_Mutation_p.N463S|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.N463S NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 463 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATTAAAAGAATTTGACCTCAC 0.453000 78 114 0 0 0.003610 0 0 COG6 57511 broad.mit.edu 37 13 40261879 40261879 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:40261879G>T ENST00000416691.1 + 10 1052 c.952G>T c.(952-954)Gct>Tct p.A318S COG6_ENST00000455146.3_Missense_Mutation_p.A318S NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 318 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) GCTCCATCAAGCTACTGCTTC 0.378000 24 48 4.7796e-09 6.63333e-09 0.004656 1 0 GPR50 9248 broad.mit.edu 37 X 150349627 150349627 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:150349627C>A ENST00000218316.3 + 2 1641 c.1572C>A c.(1570-1572)gcC>gcA p.A524A NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 524 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCAAGCCTGCCACTACCAGCC 0.612000 50 176 2.0833e-19 3.5545e-19 0.003610 1 0 DROSHA 29102 broad.mit.edu 37 5 31495408 31495408 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:31495408C>A ENST00000511367.2 - 11 1984 c.1740G>T c.(1738-1740)ccG>ccT p.P580P DROSHA_ENST00000344624.3_Silent_p.P580P|DROSHA_ENST00000442743.1_Silent_p.P543P|DROSHA_ENST00000513349.1_Silent_p.P543P NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 580 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AGTTCGTAGGCGGGGAGACTG 0.383000 10 18 3.86212e-05 4.61502e-05 0.008291 1 0 AURKC 6795 broad.mit.edu 37 19 57744036 57744036 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:57744036G>C ENST00000302804.7 + 4 609 c.423G>C c.(421-423)caG>caC p.Q141H AURKC_ENST00000598785.1_Missense_Mutation_p.Q107H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q107H|AURKC_ENST00000415300.2_Missense_Mutation_p.Q122H|AURKC_ENST00000599062.1_Missense_Mutation_p.Q138H NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 141 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TAGATGAACAGCGCACAGCCA 0.552000 6 40 0 0 0.001168 0 0 CRTAC1 55118 broad.mit.edu 37 10 99771078 99771078 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:99771078G>A ENST00000370597.3 - 2 396 c.41C>T c.(40-42)cCg>cTg p.P14L CRTAC1_ENST00000370591.2_Missense_Mutation_p.P14L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P14L NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 14 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CAGCAGGAACGGTAACATCCT 0.512000 16 92 0 0 0.004007 0 0 MUC5B 727897 broad.mit.edu 37 11 1271948 1271948 + Missense_Mutation SNP T T G rs2943495 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:1271948T>G ENST00000447027.1 + 31 13905 c.13847T>G c.(13846-13848)cTc>cGc p.L4616R MUC5B_ENST00000529681.1_Missense_Mutation_p.L4613R Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4613 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACGGCACTCACGCCTCCA 0.647000 3 44 0 0 0.004672 0 0 XYLT1 64131 broad.mit.edu 37 16 17211743 17211743 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:17211743C>A ENST00000261381.6 - 11 2401 c.2317G>T c.(2317-2319)Ggg>Tgg p.G773W NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 773 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGTCCCTTCCCCCACTTCTGC 0.567000 23 64 2.89027e-11 4.23309e-11 0.002299 1 0 MUC16 94025 broad.mit.edu 37 19 9084596 9084596 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:9084596G>T ENST00000397910.4 - 1 7422 c.7219C>A c.(7219-7221)Ctc>Atc p.L2407I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2407 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 GAAGAGAAGAGAGATGGGGAG 0.473000 18 20 1.33834e-09 1.88106e-09 0.007413 1 0 SLC10A5 347051 broad.mit.edu 37 8 82607015 82607015 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:82607015C>G ENST00000518568.1 - 1 1394 c.193G>C c.(193-195)Gaa>Caa p.E65Q NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 65 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 TTAGGATCTTCTATTTTCACA 0.368000 28 53 0 0 0.005443 0 0 GPR156 165829 broad.mit.edu 37 3 119886566 119886566 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:119886566C>A ENST00000464295.1 - 10 2203 c.1758G>T c.(1756-1758)atG>atT p.M586I GPR156_ENST00000315843.3_Missense_Mutation_p.M586I|GPR156_ENST00000461057.1_Missense_Mutation_p.M582I Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 586 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TGGAGAGGGGCATCTTTTGGG 0.607000 10 49 4.68919e-08 6.29664e-08 0.008291 1 0 VCX3B 425054 broad.mit.edu 37 X 8434331 8434331 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:8434331G>T ENST00000381032.1 + 3 955 c.648G>T c.(646-648)caG>caT p.Q216H VCX3B_ENST00000444481.1_Missense_Mutation_p.Q186H|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.Q184H|VCX3B_ENST00000440654.2_Missense_Mutation_p.Q166H NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 0 nucleolus NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 CACTGAGTCAGGAGAGCCAGG 0.562000 23 295 2.65835e-16 4.34525e-16 0.007291 1 0 ZNF516 9658 broad.mit.edu 37 18 74091609 74091609 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:74091609C>G ENST00000443185.2 - 4 2778 c.2461G>C c.(2461-2463)Gcc>Ccc p.A821P ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 821 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCACCGAGGGCAGGCGGGGGG 0.612000 26 49 0 0 0.003954 0 0 KCNT1 57582 broad.mit.edu 37 9 138656985 138656985 + Nonsense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:138656985A>T ENST00000298480.5 + 12 1218 c.1144A>T c.(1144-1146)Aag>Tag p.K382* KCNT1_ENST00000487664.1_Nonsense_Mutation_p.K337*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.K363*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.K343*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.K382*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.K349*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.K363*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.K363* B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 382 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CAGCTCCCTCAAGATCGACCT 0.642000 25 79 0 0 0.002780 0 0 SVEP1 79987 broad.mit.edu 37 9 113173854 113173854 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:113173854T>C ENST00000401783.2 - 37 6473 c.6137A>G c.(6136-6138)tAc>tGc p.Y2046C SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2023C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2046 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATCAGAGCAGTAGTAGAATGC 0.552000 11 23 0 0 0.000978 0 0 LRRC55 219527 broad.mit.edu 37 11 56954808 56954808 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:56954808C>T ENST00000497933.1 + 2 1027 c.880C>T c.(880-882)Ctg>Ttg p.L294L NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 264 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GGCCTGCCACCTGACCCTGAC 0.582000 18 78 0 0 0.004990 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130831345 130831345 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:130831345C>T ENST00000509018.1 - 13 1633 c.1428G>A c.(1426-1428)cgG>cgA p.R476R RAPGEF6_ENST00000512052.1_Silent_p.R191R|RAPGEF6_ENST00000308008.6_Silent_p.R476R|RAPGEF6_ENST00000510071.1_Silent_p.R476R|RAPGEF6_ENST00000296859.6_Silent_p.R476R|FNIP1_ENST00000514667.1_Silent_p.R526R|RAPGEF6_ENST00000507093.1_Silent_p.R476R|RAPGEF6_ENST00000307984.5_Silent_p.R476R NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 476 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ATAATACAATCCGTGTCACCT 0.358000 5 27 0 0 0.001168 0 0 SCFD2 152579 broad.mit.edu 37 4 53773703 53773703 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:53773703C>T ENST00000401642.3 - 7 1896 c.1763G>A c.(1762-1764)aGg>aAg p.R588K SCFD2_ENST00000388940.4_Intron NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 588 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GGAATCTGGCCTCTCGGGATG 0.403000 37 51 0 0 0.004289 0 0 MPL 4352 broad.mit.edu 37 1 43805148 43805148 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:43805148C>A ENST00000372470.3 + 4 640 c.598C>A c.(598-600)Cct>Act p.P200T MPL_ENST00000413998.2_Missense_Mutation_p.P200T NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 200 Fibronectin type-III 1. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCTGCAGAGGCCTCACTCAGC 0.572000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 29 70 1.16021e-09 1.63765e-09 0.007291 1 0 RIT2 6014 broad.mit.edu 37 18 40503615 40503615 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:40503615G>A ENST00000590910.1 - 5 539 c.410C>T c.(409-411)tCa>tTa p.S137L RIT2_ENST00000326695.5_Silent_p.L116L|RIT2_ENST00000282028.4_Silent_p.L116L|RIT2_ENST00000589109.1_Silent_p.L116L Q99578 RIT2_HUMAN Ras-like without CAAX 2 0 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTGAAAAATGAGCTCTTTAA 0.507000 97 138 0 0 0.003610 0 0 DUS3L 56931 broad.mit.edu 37 19 5789498 5789498 + Missense_Mutation SNP C C A rs34998818 by1000genomes TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:5789498C>A ENST00000309061.7 - 3 716 c.620G>T c.(619-621)cGc>cTc p.R207L DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 207 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CAGGCCGTTGCGGATGGACGG 0.721000 5 24 0.000602214 0.000690929 0.000602 1 0 SH3BP1 23616 broad.mit.edu 37 22 38040682 38040682 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:38040682G>T ENST00000599616.1 + 6 465 c.465G>T c.(463-465)aaG>aaT p.K155N SH3BP1_ENST00000442465.2_Missense_Mutation_p.K219N|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K219N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.K219N|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 219 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) TTGTTACCAAGGAGGACTCCT 0.587000 38 176 1.30091e-30 2.3856e-30 0.006999 1 0 TNR 7143 broad.mit.edu 37 1 175372666 175372666 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:175372666C>G ENST00000367674.1 - 4 1294 c.586G>C c.(586-588)Ggc>Cgc p.G196R TNR_ENST00000263525.2_Missense_Mutation_p.G196R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 196 Cys-rich.|EGF-like 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CAATTCTTGCCAAACCAGCCT 0.577000 22 134 0 0 0.002299 0 0 RELB 5971 broad.mit.edu 37 19 45540760 45540760 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:45540760C>G ENST00000221452.8 + 12 1602 c.1452C>G c.(1450-1452)ctC>ctG p.L484L RELB_ENST00000540120.1_Silent_p.L484L|RELB_ENST00000505236.1_Silent_p.L481L NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 484 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GGCCTGACCTCCTGGACGATG 0.682000 8 90 0 0 0.003080 0 0 IGFBP3 3486 broad.mit.edu 37 7 45956212 45956212 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:45956212C>T ENST00000275521.6 - 3 818 c.685G>A c.(685-687)Gtg>Atg p.V229M IGFBP3_ENST00000381083.4_Missense_Mutation_p.V235M|IGFBP3_ENST00000381086.5_Missense_Mutation_p.V132M NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 229 Thyroglobulin type-1. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) GGACTCAGCACATTGAGGAAC 0.478000 57 66 0 0 0.003610 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135757176 135757176 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:135757176G>T ENST00000250617.6 - 19 3230 c.2025C>A c.(2023-2025)ggC>ggA p.G675G ARHGEF6_ENST00000370622.1_Silent_p.G521G|ARHGEF6_ENST00000535227.1_Silent_p.G548G|ARHGEF6_ENST00000370620.1_Silent_p.G521G NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 675 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TTGAGCCATGGCCTTGTTGAA 0.423000 20 69 2.98393e-07 3.85813e-07 0.002780 1 0 TXNDC15 79770 broad.mit.edu 37 5 134223588 134223588 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:134223588G>T ENST00000358387.4 + 2 932 c.307G>T c.(307-309)Gac>Tac p.D103Y TXNDC15_ENST00000546290.1_Missense_Mutation_p.D80Y NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 103 cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGAAGCTGAGGACAAAGTGAG 0.607000 8 40 0.000442599 0.000509567 0.006214 1 0 L1CAM 3897 broad.mit.edu 37 X 153133826 153133826 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:153133826G>T ENST00000370060.1 - 14 1823 c.1634C>A c.(1633-1635)cCc>cAc p.P545H L1CAM_ENST00000543994.1_Missense_Mutation_p.P547H|L1CAM_ENST00000538883.1_Missense_Mutation_p.P547H|L1CAM_ENST00000370055.1_Missense_Mutation_p.P540H|L1CAM_ENST00000370057.3_Missense_Mutation_p.P545H|L1CAM_ENST00000361699.4_Missense_Mutation_p.P545H|L1CAM_ENST00000361981.3_Missense_Mutation_p.P540H NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 545 Ig-like C2-type 6. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGCAAGGAGGGGTCAAAGGA 0.602000 58 228 1.95512e-22 3.42405e-22 0.003610 1 0 CHRNA10 57053 broad.mit.edu 37 11 3687438 3687438 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:3687438C>A ENST00000250699.2 - 5 1323 c.1252G>T c.(1252-1254)Gac>Tac p.D418Y CHRNA10_ENST00000534359.1_3'UTR NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 418 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) CGCTTCCAGTCCTCATGGCAG 0.637000 15 78 3.45872e-05 4.15548e-05 0.004007 1 0 IMMT 10989 broad.mit.edu 37 2 86371740 86371740 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:86371740C>T ENST00000410111.3 - 15 2315 c.1928G>A c.(1927-1929)cGa>cAa p.R643Q IMMT_ENST00000449247.2_Missense_Mutation_p.R632Q|IMMT_ENST00000442664.2_Missense_Mutation_p.R642Q|IMMT_ENST00000254636.5_Missense_Mutation_p.R544Q|IMMT_ENST00000409051.2_Missense_Mutation_p.R596Q NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 643 integral to mitochondrial inner membrane protein binding p.R643Q(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGCTACCCTTCGGGCCAGTTT 0.512000 8 166 0 0 0.004482 0 0 CAPN6 827 broad.mit.edu 37 X 110494310 110494310 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:110494310G>T ENST00000324068.1 - 8 1160 c.993C>A c.(991-993)tgC>tgA p.C331* CAPN6_ENST00000541758.1_Nonsense_Mutation_p.C76* NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 331 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GAAAGTTGCGGCAAAAGTCCT 0.438000 223 394 2.48234e-129 4.73576e-129 0.003610 1 0 XIRP2 129446 broad.mit.edu 37 2 168103850 168103850 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:168103850C>T ENST00000409195.1 + 9 6037 c.5948C>T c.(5947-5949)cCa>cTa p.P1983L XIRP2_ENST00000409273.1_Missense_Mutation_p.P1761L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P1983L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1808 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGCCAGGTCCATTTGAGCCA 0.473000 26 37 0 0 0.003954 0 0 PDGFC 56034 broad.mit.edu 37 4 157732074 157732074 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:157732074C>T ENST00000502773.1 - 3 900 c.410G>A c.(409-411)gGa>gAa p.G137E PDGFC_ENST00000422544.2_Missense_Mutation_p.G137E|PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000542208.1_Intron NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 137 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) AATTTGATTTCCTTTAGAAAT 0.398000 20 28 0 0 0.007413 0 0 SACS 26278 broad.mit.edu 37 13 23913373 23913373 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:23913373C>A ENST00000382298.3 - 10 5230 c.4642G>T c.(4642-4644)Gga>Tga p.G1548* SACS_ENST00000402364.1_Nonsense_Mutation_p.G798*|SACS_ENST00000382292.3_Nonsense_Mutation_p.G1548* NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1548 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCAACTTCTCCCCTTTTTAAA 0.368000 15 42 1.5739e-10 2.27493e-10 0.004007 1 0 ANXA5 308 broad.mit.edu 37 4 122607458 122607458 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:122607458C>A ENST00000296511.5 - 3 364 c.79G>T c.(79-81)Gct>Tct p.A27S ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000515017.1_Missense_Mutation_p.A27S|ANXA5_ENST00000509016.1_5'UTR NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 27 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 CCTTTCATAGCCTTCCGAAGA 0.373000 24 43 4.87955e-14 7.69111e-14 0.005443 1 0 UBASH3B 84959 broad.mit.edu 37 11 122680461 122680461 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:122680461C>T ENST00000284273.5 + 14 2192 c.1817C>T c.(1816-1818)cCa>cTa p.P606L NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 606 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CTTCAGATCCCATATCTGGGA 0.413000 15 26 0 0 0.002450 0 0 IMMP2L 83943 broad.mit.edu 37 7 111127317 111127317 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:111127317G>T ENST00000405709.2 - 3 658 c.216C>A c.(214-216)caC>caA p.H72Q IMMP2L_ENST00000452895.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000447215.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000437687.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000415362.1_Missense_Mutation_p.H72Q|IMMP2L_ENST00000331762.3_Missense_Mutation_p.H72Q NM_032549.3 NP_115938.1 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 72 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) TGTCACCACGGTGTACTTCAA 0.368000 38 46 2.47872e-24 4.44693e-24 0.002522 1 0 BEND5 79656 broad.mit.edu 37 1 49224778 49224778 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:49224778C>A ENST00000371833.3 - 3 625 c.539G>T c.(538-540)cGg>cTg p.R180L AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 180 large_intestine(5)|lung(2)|skin(1) 8 ATACAGAGCCCGGGGCACCAC 0.622000 25 44 3.08376e-08 4.16623e-08 0.003330 1 0 BMP6 654 broad.mit.edu 37 6 7862567 7862567 + Missense_Mutation SNP T T G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:7862567T>G ENST00000283147.6 + 4 1199 c.1040T>G c.(1039-1041)gTg>gGg p.V347G NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 347 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) GCAGGCCTGGTGGGCAGAGAC 0.557000 22 83 0 0 0.003330 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913188 143913188 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:143913188C>A ENST00000409869.1 + 3 306 c.129C>A c.(127-129)tcC>tcA p.S43S ARHGAP15_ENST00000295095.6_Silent_p.S43S Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 43 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) AAAGTAAATCCATGATCCTCA 0.443000 18 32 1.64113e-05 1.98616e-05 0.001523 1 0 HERC2 8924 broad.mit.edu 37 15 28508211 28508211 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:28508211C>G ENST00000261609.7 - 15 2083 c.1975G>C c.(1975-1977)Gtg>Ctg p.V659L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 659 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACTTTGACCACATCCAAGTCT 0.473000 11 51 0 0 0.001368 0 0 CERKL 375298 broad.mit.edu 37 2 182413579 182413579 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:182413579C>G ENST00000410087.3 - 7 1001 c.901G>C c.(901-903)Gta>Cta p.V301L CERKL_ENST00000339098.5_Missense_Mutation_p.V327L|CERKL_ENST00000374970.2_Missense_Mutation_p.V232L|CERKL_ENST00000374969.2_Missense_Mutation_p.V188L|CERKL_ENST00000409440.3_Missense_Mutation_p.V283L|CERKL_ENST00000479558.1_5'UTR NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 327 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) ACCAGCTGTACATGCCCTTGA 0.433000 13 41 0 0 0.002450 0 0 FOXD4 2298 broad.mit.edu 37 9 118065 118065 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:118065C>A ENST00000382500.2 - 1 352 c.55G>T c.(55-57)Gac>Tac p.D19Y NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 19 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CCATCGGAGTCCCGGAGGCTG 0.627000 37 61 8.48111e-28 1.54669e-27 0.003610 1 0 GJA10 84694 broad.mit.edu 37 6 90605647 90605647 + Missense_Mutation SNP C C G rs150458704 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:90605647C>G ENST00000369352.1 + 1 1460 c.1460C>G c.(1459-1461)cCg>cGg p.P487R NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 487 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCAGCCCTACCGATCATGGAA 0.473000 35 96 0 0 0.005524 0 0 LRP2 4036 broad.mit.edu 37 2 169996113 169996113 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:169996113T>C ENST00000263816.3 - 73 13492 c.13207A>G c.(13207-13209)Agc>Ggc p.S4403G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4403 EGF-like 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGTAGCCGCTAGGACACCTG 0.398000 25 102 0 0 0.003330 0 0 MYBPC1 4604 broad.mit.edu 37 12 102071069 102071069 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:102071069G>T ENST00000549145.1 + 27 3124 c.3024G>T c.(3022-3024)ttG>ttT p.L1008F MYBPC1_ENST00000452455.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000441232.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000392934.3_Missense_Mutation_p.L964F|MYBPC1_ENST00000536007.1_Missense_Mutation_p.L958F|MYBPC1_ENST00000361685.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000553190.1_Missense_Mutation_p.L977F|MYBPC1_ENST00000545503.2_Missense_Mutation_p.L977F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.L1002F|MYBPC1_ENST00000360610.2_Missense_Mutation_p.L995F|MYBPC1_ENST00000541119.1_Missense_Mutation_p.L965F|MYBPC1_ENST00000551300.1_Missense_Mutation_p.L878F|MYBPC1_ENST00000550270.1_Missense_Mutation_p.L995F|MYBPC1_ENST00000547405.1_Missense_Mutation_p.L951F|MYBPC1_ENST00000547509.1_Missense_Mutation_p.L963F Q00872 MYPC1_HUMAN myosin binding protein C, slow type 995 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TTACTGAATTGGTCATAGGGA 0.408000 28 57 7.38237e-10 1.04874e-09 0.006320 1 0 FOXN2 3344 broad.mit.edu 37 2 48573727 48573727 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:48573727T>C ENST00000340553.3 + 3 635 c.374T>C c.(373-375)aTt>aCt p.I125T NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 125 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) TATATGGCCATTGAGCACTCT 0.418000 8 182 0 0 0.004482 0 0 KLF5 688 broad.mit.edu 37 13 73649905 73649905 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:73649905G>A ENST00000377687.4 + 4 1791 c.1255G>A c.(1255-1257)Gag>Aag p.E419K KLF5_ENST00000539231.1_Missense_Mutation_p.E328K NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 419 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.E419Q(2) breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GCGATCGGATGAGCTGACCCG 0.592000 14 50 0 0 0.004007 0 0 RGPD4 285190 broad.mit.edu 37 2 108443477 108443477 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:108443477G>A ENST00000408999.3 + 1 85 c.8G>A c.(7-9)tGc>tAc p.C3Y RGPD4_ENST00000354986.4_Missense_Mutation_p.C3Y NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 3 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GCGATGAGTTGCAGCAAGGCC 0.652000 6 12 0 0 0.001984 0 0 TRIM68 55128 broad.mit.edu 37 11 4621864 4621864 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:4621864C>T ENST00000300747.5 - 7 1389 c.1100G>A c.(1099-1101)aGg>aAg p.R367K NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 367 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCACTCAGACCTGTCTCCCAC 0.537000 9 43 0 0 0.006214 0 0 BRCA1 672 broad.mit.edu 37 17 41209101 41209101 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:41209101G>A ENST00000309486.4 - 18 5384 c.4357C>T c.(4357-4359)Cca>Tca p.P1453S BRCA1_ENST00000351666.3_Missense_Mutation_p.P566S|BRCA1_ENST00000352993.3_Missense_Mutation_p.P607S|BRCA1_ENST00000491747.2_Missense_Mutation_p.P645S|BRCA1_ENST00000357654.3_Missense_Mutation_p.P1749S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P1702S|BRCA1_ENST00000468300.1_Missense_Mutation_p.P645S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P1484S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.P240S|BRCA1_ENST00000471181.2_Missense_Mutation_p.P1770S|BRCA1_ENST00000346315.3_Missense_Mutation_p.P1510S|BRCA1_ENST00000586385.1_Missense_Mutation_p.P59S NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1749 Missing (in Ref. 3; AAC00049). androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GCTCGCTTTGGACCTTGGTGG 0.463000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 40 242 0 0 0.002222 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208796 140208796 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:140208796G>T ENST00000529310.1 + 1 1234 c.1120G>T c.(1120-1122)Gtg>Ttg p.V374L PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V374L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAATTAGCGTGAACGACCT 0.488000 55 68 7.07328e-35 1.30796e-34 0.003610 1 0 TNRC18 84629 broad.mit.edu 37 7 5410791 5410791 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:5410791C>A ENST00000399537.4 - 11 3782 c.3434G>T c.(3433-3435)cGg>cTg p.R1145L TNRC18_ENST00000430969.1_Missense_Mutation_p.R1145L O15417 TNC18_HUMAN trinucleotide repeat containing 18 1145 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGGGCCCTCCCGCAGCGGCTC 0.687000 15 15 6.31663e-08 8.3968e-08 0.003163 1 0 PSMB10 5699 broad.mit.edu 37 16 67969891 67969891 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:67969891G>T ENST00000358514.4 - 4 695 c.358C>A c.(358-360)Cgc>Agc p.R120S NM_002801.3 NP_002792.1 P40306 PSB10_HUMAN proteasome (prosome, macropain) subunit, beta type, 10 120 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) CGCAGGATGCGAGTGACCGTG 0.662000 17 17 7.05477e-17 1.17343e-16 0.004990 1 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812784 31812784 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:31812784C>A ENST00000334067.3 + 1 188 c.139C>A c.(139-141)Ctc>Atc p.L47I NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 47 intermediate filament p.L47I(1) kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 GGGCTCCTCTCTCTACAATGG 0.483000 41 83 2.95478e-19 5.02844e-19 0.008740 1 0 PCDHA10 56139 broad.mit.edu 37 5 140237414 140237414 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:140237414G>T ENST00000307360.5 + 1 1781 c.1781G>T c.(1780-1782)cGc>cTc p.R594L PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTAAGGTGCGCGCAGTGGAC 0.672000 5 30 8.12818e-05 9.60868e-05 0.001984 1 0 TSIX 9383 broad.mit.edu 37 X 73044698 73044698 + RNA SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:73044698C>A ENST00000604411.1 + 0 32659 XIST_ENST00000429829.1_lincRNA NR_003255.2 ATATATCATTCCTTACATCTG 0.308000 12 43 6.40141e-05 7.59451e-05 0.000978 1 0 NOS2 4843 broad.mit.edu 37 17 26109099 26109099 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:26109099C>T ENST00000313735.6 - 7 897 c.664G>A c.(664-666)Gaa>Aaa p.E222K NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 222 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCAAACATTTCCCGGGCAGTG 0.557000 11 40 0 0 0.000978 0 0 TAF1L 138474 broad.mit.edu 37 9 32635171 32635171 + Nonsense_Mutation SNP G G T rs139816850 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:32635171G>T ENST00000242310.4 - 1 496 c.407C>A c.(406-408)tCg>tAg p.S136* RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 136 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATCATAATCCGAGTGGTAAAG 0.478000 40 106 7.63091e-17 1.26608e-16 0.007835 1 0 MAPK8IP1 9479 broad.mit.edu 37 11 45925561 45925561 + Silent SNP C C T rs144563506 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:45925561C>T ENST00000395629.2 + 7 1815 c.1485C>T c.(1483-1485)gaC>gaT p.D495D MAPK8IP1_ENST00000241014.2_Silent_p.D505D Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 505 SH3. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GACACGAAGACGAACTTGAGC 0.592000 20 95 0 0 0.008871 0 0 RBM44 375316 broad.mit.edu 37 2 238742712 238742712 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:238742712C>A ENST00000316997.4 + 14 3094 c.2962C>A c.(2962-2964)Cca>Aca p.P988T RBM44_ENST00000409864.1_Missense_Mutation_p.P988T NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 987 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ATTCATACCTCCAAATACATT 0.338000 8 11 3.09899e-07 3.97583e-07 0.004482 1 0 CNTN1 1272 broad.mit.edu 37 12 41365291 41365291 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:41365291T>C ENST00000547849.1 + 16 2179 c.1860T>C c.(1858-1860)tgT>tgC p.C620C CNTN1_ENST00000547702.1_Silent_p.C620C|CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Silent_p.C620C|CNTN1_ENST00000347616.1_Intron NM_001256064.1 NP_001242993.1 Q12860 CNTN1_HUMAN contactin 1 0 Fibronectin type-III 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCCCCGTCTGTGCAAGCCTGC 0.418000 6 35 0 0 0.001168 0 0 OR7A5 26659 broad.mit.edu 37 19 14938756 14938756 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:14938756G>T ENST00000322301.3 - 2 385 c.298C>A c.(298-300)Cag>Aag p.Q100K OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.Q100K Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 AAATACATCTGCATGAGGCAG 0.453000 22 102 3.8784e-16 6.30836e-16 0.001882 1 0 KIF21B 23046 broad.mit.edu 37 1 200961498 200961498 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:200961498A>T ENST00000332129.2 - 16 2613 c.2297T>A c.(2296-2298)aTg>aAg p.M766K KIF21B_ENST00000461742.2_Missense_Mutation_p.M766K|KIF21B_ENST00000422435.2_Missense_Mutation_p.M766K|KIF21B_ENST00000360529.5_Missense_Mutation_p.M766K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 766 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCCTCACGCATCTGCTTCAT 0.642000 20 74 0 0 0.004656 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 4 54 0 0 0.000602 0 0 TLR7 51284 broad.mit.edu 37 X 12904321 12904321 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:12904321C>G ENST00000380659.3 + 3 833 c.694C>G c.(694-696)Ctc>Gtc p.L232V NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 232 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity p.L232I(1) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AGAACTATATCTCTACAACAA 0.358000 12 50 0 0 0.001368 0 0 DEPTOR 64798 broad.mit.edu 37 8 121021283 121021283 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:121021283G>T ENST00000286234.5 + 8 1142 c.1012G>T c.(1012-1014)Gtt>Ttt p.V338F DEPTOR_ENST00000523492.1_Missense_Mutation_p.V237F|DEPTOR_ENST00000518057.1_3'UTR NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 338 PDZ. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 TGGTGACGCGGTTGGCTGGGG 0.547000 7 45 0.000274275 0.00031743 0.004482 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99358197 99358197 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:99358197G>A ENST00000408927.3 + 14 1787 c.1674G>A c.(1672-1674)ctG>ctA p.L558L RAP1GDS1_ENST00000264572.7_Silent_p.L467L|RAP1GDS1_ENST00000453712.2_Silent_p.L558L|RAP1GDS1_ENST00000339360.5_Silent_p.L559L|RAP1GDS1_ENST00000380158.4_Silent_p.L510L|RAP1GDS1_ENST00000408900.3_Silent_p.L509L NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 558 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) CCATGGTCCTGATATGTGCTC 0.323000 T NUP98 T-ALL 5 25 0 0 0.000602 0 0 SPRR1A 6698 broad.mit.edu 37 1 152957747 152957747 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:152957747C>A ENST00000307122.2 + 2 105 c.41C>A c.(40-42)cCt>cAt p.P14H SPRR1A_ENST00000368762.1_Missense_Mutation_p.P14H NM_001199828.1|NM_005987.3 NP_001186757.1|NP_005978.2 P35321 SPR1A_HUMAN small proline-rich protein 1A 14 2 X 12 AA approximate repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCCACCCCCTCAGCCTCAG 0.522000 45 120 5.2432e-18 8.83206e-18 0.003610 1 0 PRMT10 90826 broad.mit.edu 37 4 148575513 148575513 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:148575513T>A ENST00000322396.6 - 9 1777 c.1535A>T c.(1534-1536)gAt>gTt p.D512V TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.D399V NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 512 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 CTCTACAGCATCTGGTTTACT 0.383000 26 46 0 0 0.004656 0 0 CYP27B1 1594 broad.mit.edu 37 12 58160787 58160787 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:58160787T>C ENST00000228606.4 - 1 247 c.38A>G c.(37-39)cAt>cGt p.H13R RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 13 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GCGGACGCGATGGAACACTCT 0.617000 24 132 0 0 0.003954 0 0 HEPH 9843 broad.mit.edu 37 X 65427105 65427105 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:65427105G>C ENST00000519389.1 + 14 2701 c.2522G>C c.(2521-2523)aGg>aCg p.R841T HEPH_ENST00000419594.1_Missense_Mutation_p.R598T|HEPH_ENST00000441993.2_Missense_Mutation_p.R790T|HEPH_ENST00000374727.3_Missense_Mutation_p.R790T|HEPH_ENST00000336279.5_Missense_Mutation_p.R520T|HEPH_ENST00000343002.2_Missense_Mutation_p.R787T Q9BQS7 HEPH_HUMAN hephaestin 787 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCTGTATTCAGGGAATACACT 0.463000 22 51 0 0 0.002299 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107035126 107035126 + RNA SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:107035126C>G ENST00000390626.2 - 0 95 CCTTGGAGAACAGCCAGGAGG 0.577000 7 7 0 0 0.003080 0 0 ZNF195 7748 broad.mit.edu 37 11 3381280 3381280 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:3381280T>A ENST00000354599.6 - 4 846 c.742A>T c.(742-744)Att>Ttt p.I248F ZNF195_ENST00000343338.7_Missense_Mutation_p.I252F|ZNF195_ENST00000526601.1_Missense_Mutation_p.I301F|ZNF195_ENST00000005082.9_Missense_Mutation_p.I297F|ZNF195_ENST00000429541.2_Missense_Mutation_p.I252F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000399602.4_Missense_Mutation_p.I320F NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CCGGCATAAATTCTATTTTTA 0.393000 19 105 0 0 0.006122 0 0 OR6K2 81448 broad.mit.edu 37 1 158669868 158669868 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:158669868C>A ENST00000359610.2 - 1 618 c.575G>T c.(574-576)cGa>cTa p.R192L NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GACGATGGCTCGTGTGTCTGT 0.473000 28 70 7.41945e-09 1.02327e-08 0.005443 1 0 FGD1 2245 broad.mit.edu 37 X 54482964 54482964 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:54482964G>A ENST00000375135.3 - 9 2406 c.1673C>T c.(1672-1674)tCg>tTg p.S558L NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 558 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGCAGCATTCGAGTGCTCTGC 0.602000 4 46 0 0 0.001168 0 0 RASA3 22821 broad.mit.edu 37 13 114748770 114748770 + Silent SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:114748770A>T ENST00000334062.7 - 24 2614 c.2493T>A c.(2491-2493)acT>acA p.T831T RASA3_ENST00000389544.4_Silent_p.T799T NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 831 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AAATGGAATGAGTGGAGGTCT 0.592000 24 59 0 0 0.002836 0 0 LILRB3 11025 broad.mit.edu 37 19 54721011 54721011 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:54721011C>T ENST00000391750.1 - 14 1983 c.1847G>A c.(1846-1848)gGg>gAg p.G616E LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.G616E|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.G616E|LILRA6_ENST00000419410.2_Missense_Mutation_p.G617E|LILRB3_ENST00000245620.9_Missense_Mutation_p.G617E|LILRA6_ENST00000270464.5_Missense_Mutation_p.G617E|LILRB3_ENST00000346401.6_Missense_Mutation_p.G628E|LILRB3_ENST00000407860.2_Missense_Mutation_p.G633E O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 616 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGAGGTTCCCCTTCCTGGGA 0.617000 11 63 0 0 0.008291 0 0 ZHX2 22882 broad.mit.edu 37 8 123965171 123965171 + Missense_Mutation SNP A A C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:123965171A>C ENST00000314393.4 + 3 2256 c.1421A>C c.(1420-1422)gAg>gCg p.E474A NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 474 Required for interaction with NFYA. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CGGCTCATCGAGGTGACTGGC 0.562000 4 44 0 0 0.000248 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12844441 12844441 + Splice_Site SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:12844441G>T ENST00000379672.5 + 8 951 c.651_splice c.e8+1 p.T217_splice ARHGAP44_ENST00000340825.3_Splice_Site_p.T217_splice|ARHGAP44_ENST00000262444.9_Splice_Site_p.T217_splice NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 217 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 ACTTTCAAACGGTAAGTGCCC 0.403000 22 29 2.21704e-12 3.32807e-12 0.002780 1 0 DNAH7 56171 broad.mit.edu 37 2 196729424 196729424 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:196729424C>A ENST00000312428.6 - 41 7055 c.6955G>T c.(6955-6957)Gcc>Tcc p.A2319S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2319 AAA 4 (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 TGCTCTATGGCAAATCGAAAC 0.448000 26 88 1.64293e-13 2.55911e-13 0.003330 1 0 CLK4 57396 broad.mit.edu 37 5 178050304 178050304 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:178050304T>C ENST00000316308.4 - 2 282 c.114A>G c.(112-114)caA>caG p.Q38Q CLK4_ENST00000520957.1_Silent_p.Q38Q NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 38 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) GCCTGTTCTCTTGTGTGCTAC 0.388000 12 71 0 0 0.002450 0 0 CCKBR 887 broad.mit.edu 37 11 6292657 6292657 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:6292657C>A ENST00000525462.1 + 4 1438 c.1435C>A c.(1435-1437)Ccc>Acc p.P479T CCKBR_ENST00000532715.1_Missense_Mutation_p.P326T|CCKBR_ENST00000334619.2_Missense_Mutation_p.P410T P32239 GASR_HUMAN cholecystokinin B receptor 410 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TCGCTGCTGCCCCCGGCCTCC 0.642000 12 75 1.08611e-07 1.42943e-07 0.000978 1 0 ASTL 431705 broad.mit.edu 37 2 96789754 96789754 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:96789754A>G ENST00000342380.2 - 9 1130 c.1131T>C c.(1129-1131)ggT>ggC p.G377G NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 377 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CACCGGGGGCACCTGCTCCAG 0.627000 18 86 0 0 0.004990 0 0 ERCC5 2073 broad.mit.edu 37 13 103527858 103527858 + Nonsense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:103527858C>T ENST00000355739.4 + 15 4589 c.3166C>T c.(3166-3168)Cag>Tag p.Q1056* ERCC5_ENST00000375954.1_Nonsense_Mutation_p.Q289*|ERCC5_ENST00000472247.1_3'UTR NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGAAAAACCCAGAAGAGAGG 0.408000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 25 103 0 0 0.003330 0 0 IL21R 50615 broad.mit.edu 37 16 27460293 27460293 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:27460293C>A ENST00000337929.3 + 9 1779 c.1306C>A c.(1306-1308)Cct>Act p.P436T IL21R_ENST00000395754.4_Missense_Mutation_p.P436T|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.P436T|IL21R_ENST00000564089.1_Missense_Mutation_p.P436T NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 436 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 AGCTGGCAGCCCTGGGCTAGG 0.672000 T BCL6 NHL 28 61 1.75199e-13 2.70985e-13 0.007291 1 0 ALS2 57679 broad.mit.edu 37 2 202611466 202611466 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:202611466G>A ENST00000264276.6 - 9 2193 c.1821C>T c.(1819-1821)agC>agT p.S607S NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 607 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 CATTTTCACTGCTTATCTGCA 0.443000 22 119 0 0 0.002299 0 0 HCN1 348980 broad.mit.edu 37 5 45262862 45262862 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:45262862C>A ENST00000303230.4 - 8 1891 c.1834G>T c.(1834-1836)Ggt>Tgt p.G612C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 612 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTGAAAACACCAGTGTTCAGA 0.413000 11 50 2.80697e-09 3.92858e-09 0.000978 1 0 LRP1B 53353 broad.mit.edu 37 2 141114000 141114000 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:141114000T>A ENST00000389484.3 - 75 12412 c.11441A>T c.(11440-11442)gAt>gTt p.D3814V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3814 EGF-like 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATATGCATCATCTCCACATGG 0.338000 TSP Lung(27;0.18) 24 55 0 0 0.002780 0 0 DCDC1 341019 broad.mit.edu 37 11 30942330 30942330 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:30942330C>G ENST00000597505.1 - 23 3285 c.3286G>C c.(3286-3288)Gaa>Caa p.E1096Q DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E175Q P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TACAGAATTTCACTGGAAGCA 0.438000 12 27 0 0 0.001855 0 0 INTU 27152 broad.mit.edu 37 4 128577843 128577843 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:128577843G>T ENST00000335251.5 + 3 838 c.735G>T c.(733-735)gaG>gaT p.E245D INTU_ENST00000296461.5_Missense_Mutation_p.E245D NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 245 PDZ. breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AAAACATCGAGAGAGTTCTGT 0.313000 14 31 1.99824e-07 2.59888e-07 0.004990 1 0 MUC16 94025 broad.mit.edu 37 19 9014562 9014562 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:9014562T>A ENST00000397910.4 - 31 38616 c.38413A>T c.(38413-38415)Acc>Tcc p.T12805S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12807 SEA 5. Missing (in Ref. 3; AAK74120). 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 CTGTCCAGGGTGTAGGGACCC 0.557000 93 136 0 0 0.003610 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35940505 35940505 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:35940505T>C ENST00000325722.3 - 5 1150 c.916A>G c.(916-918)Ata>Gta p.I306V NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 306 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTTCCTTTATAACTGGAAAC 0.363000 5 53 0 0 0.000602 0 0 NLRP3 114548 broad.mit.edu 37 1 247588839 247588839 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:247588839C>A ENST00000366497.2 + 4 2874 c.2094C>A c.(2092-2094)ggC>ggA p.G698G NLRP3_ENST00000348069.2_Silent_p.G698G|NLRP3_ENST00000391828.3_Silent_p.G698G|NLRP3_ENST00000366496.2_Silent_p.G698G|NLRP3_ENST00000336119.3_Silent_p.G698G|NLRP3_ENST00000391827.2_Silent_p.G698G|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 698 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AAAAGGAAGGCCGACACCTTG 0.527000 8 37 0.000442599 0.000509567 0.006214 1 0 TGM7 116179 broad.mit.edu 37 15 43568737 43568737 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:43568737C>A ENST00000452443.2 - 13 2053 c.2049G>T c.(2047-2049)caG>caT p.Q683H NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 683 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GAACCTGGAGCTGGCGGGGTC 0.582000 30 99 1.45844e-13 2.27709e-13 0.002836 1 0 SV2A 9900 broad.mit.edu 37 1 149877572 149877572 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:149877572G>A ENST00000369146.3 - 12 2395 c.1905C>T c.(1903-1905)tcC>tcT p.S635S SV2A_ENST00000369145.1_Silent_p.S635S NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 635 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) AGGAGACACAGGACATCACGC 0.592000 12 49 0 0 0.001368 0 0 MCAM 4162 broad.mit.edu 37 11 119182596 119182596 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:119182596C>T ENST00000392814.1 - 5 1783 c.1054G>A c.(1054-1056)Ggc>Agc p.G352S MCAM_ENST00000264036.4_Missense_Mutation_p.G403S P43121 MUC18_HUMAN melanoma cell adhesion molecule 403 Ig-like C2-type 2. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CGATAGCCGCCTCCTGCCTCC 0.617000 51 75 0 0 0.003610 0 0 OR10G8 219869 broad.mit.edu 37 11 123901174 123901174 + Missense_Mutation SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:123901174T>C ENST00000431524.1 + 1 878 c.845T>C c.(844-846)cTc>cCc p.L282P NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACGCCCCTTCTCAACCCTGTT 0.498000 17 95 0 0 0.006122 0 0 EDAR 10913 broad.mit.edu 37 2 109524389 109524389 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:109524389G>A ENST00000409271.1 - 10 1429 c.986C>T c.(985-987)tCc>tTc p.S329F EDAR_ENST00000258443.2_Missense_Mutation_p.S297F|EDAR_ENST00000376651.1_Missense_Mutation_p.S329F Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 297 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CAGCTCCGGGGAGCCCTGCTT 0.617000 7 66 0 0 0.001984 0 0 NUP188 23511 broad.mit.edu 37 9 131750354 131750354 + Nonsense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:131750354C>T ENST00000372577.2 + 24 2443 c.2422C>T c.(2422-2424)Cag>Tag p.Q808* NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 808 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GGGGCAGGGCCAGCTGCTGAT 0.502000 37 138 0 0 0.005524 0 0 TIAM1 7074 broad.mit.edu 37 21 32638519 32638519 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:32638519C>G ENST00000286827.3 - 5 1241 c.770G>C c.(769-771)tGt>tCt p.C257S TIAM1_ENST00000541036.1_Missense_Mutation_p.C257S|TIAM1_ENST00000469412.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 257 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CAAATTCCGACAGTAGCCTGC 0.493000 39 77 0 0 0.008740 0 0 SCN5A 6331 broad.mit.edu 37 3 38645303 38645303 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:38645303C>G ENST00000413689.1 - 12 1983 c.1790G>C c.(1789-1791)tGc>tCc p.C597S SCN5A_ENST00000455624.2_Missense_Mutation_p.C597S|SCN5A_ENST00000451551.2_Missense_Mutation_p.C597S|SCN5A_ENST00000450102.2_Missense_Mutation_p.C597S|SCN5A_ENST00000449557.2_Missense_Mutation_p.C597S|SCN5A_ENST00000443581.1_Missense_Mutation_p.C597S|SCN5A_ENST00000425664.1_Missense_Mutation_p.C597S|SCN5A_ENST00000423572.2_Missense_Mutation_p.C597S|SCN5A_ENST00000414099.2_Missense_Mutation_p.C597S|SCN5A_ENST00000333535.4_Missense_Mutation_p.C597S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 597 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) CACCCCATTGCAGTCCACAGT 0.667000 31 127 0 0 0.002096 0 0 SLC4A1 6521 broad.mit.edu 37 17 42328949 42328949 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:42328949G>C ENST00000262418.6 - 18 2474 c.2319C>G c.(2317-2319)tcC>tcG p.S773S NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 773 Membrane (anion exchange). S -> P (in AR-dRTA; with normal red cell morphology). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCATGAGGATGGACAGGCCTG 0.627000 11 34 0 0 0.000978 0 0 AFF3 3899 broad.mit.edu 37 2 100210239 100210239 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:100210239C>T ENST00000317233.4 - 14 2119 c.1884G>A c.(1882-1884)agG>agA p.R628R AFF3_ENST00000409579.1_Silent_p.R653R|AFF3_ENST00000409236.1_Silent_p.R628R|AFF3_ENST00000356421.2_Silent_p.R653R NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 628 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGCCACAGGGCCTGGTTTTGG 0.721000 22 48 0 0 0.003330 0 0 SLC22A2 6582 broad.mit.edu 37 6 160668324 160668324 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:160668324T>A ENST00000366952.1 - 7 2267 c.786A>T c.(784-786)atA>atT p.I262I SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.I283I O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 283 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAGACTCAGGTATGCACCTAG 0.448000 6 61 0 0 0.001168 0 0 HERC2 8924 broad.mit.edu 37 15 28420692 28420692 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:28420692G>A ENST00000261609.7 - 64 9905 c.9797C>T c.(9796-9798)gCc>gTc p.A3266V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3266 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCAGTGCAGGGCCCCGACAGC 0.642000 7 17 0 0 0.001984 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765838 27765838 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:27765838C>A ENST00000451261.2 + 5 1225 c.826C>A c.(826-828)Cag>Aag p.Q276K NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TAATGTCTTCCAGGCCAAGTT 0.498000 10 14 1.76689e-08 2.40676e-08 0.006214 1 0 PUS7L 83448 broad.mit.edu 37 12 44124184 44124184 + Missense_Mutation SNP C C A rs142156360 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:44124184C>A ENST00000416848.2 - 9 2589 c.2101G>T c.(2101-2103)Gtt>Ttt p.V701F PUS7L_ENST00000551923.1_Missense_Mutation_p.V701F|PUS7L_ENST00000344862.5_Missense_Mutation_p.V701F|PUS7L_ENST00000431332.3_Missense_Mutation_p.V388F NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 701 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) CAGTTTTAAACGTCATGCTTC 0.373000 13 16 5.50884e-06 6.76596e-06 0.001368 1 0 ITGA9 3680 broad.mit.edu 37 3 37536030 37536030 + Nonsense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:37536030C>T ENST00000264741.5 + 5 839 c.583C>T c.(583-585)Cag>Tag p.Q195* ITGA9_ENST00000422441.1_Nonsense_Mutation_p.Q195* NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 195 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CGGCTCCTGCCAGGCTGGGAT 0.517000 11 27 0 0 0.000978 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348293 30348293 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:30348293G>T ENST00000327564.7 + 1 270 c.209G>T c.(208-210)gGg>gTg p.G70V LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.G43V|LRRC37B_ENST00000341671.7_Missense_Mutation_p.G43V|LRRC37B_ENST00000584368.1_Missense_Mutation_p.G55V Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 43 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) AACCCCCTGGGGCCACCTGAG 0.622000 25 117 4.26978e-12 6.38057e-12 0.003330 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19560137 19560137 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:19560137C>A ENST00000397821.3 - 16 2088 c.1798G>T c.(1798-1800)Gag>Tag p.E600* SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.E563*|SH3KBP1_ENST00000541422.1_Nonsense_Mutation_p.E339*|SH3KBP1_ENST00000379716.1_Nonsense_Mutation_p.E362* NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 600 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GCCGCAGGCTCCATCTTTGGT 0.617000 15 127 3.35478e-16 5.4701e-16 0.003163 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84608884 84608884 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:84608884G>A ENST00000344803.2 + 4 3546 c.3499G>A c.(3499-3501)Gga>Aga p.G1167R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CAGCAAGTCAGGAAGCTGCTC 0.413000 7 28 0 0 0.001984 0 0 ENPEP 2028 broad.mit.edu 37 4 111474593 111474593 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:111474593G>T ENST00000265162.5 + 18 2966 c.2624G>T c.(2623-2625)tGg>tTg p.W875L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 875 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CAACTCAACTGGGACTATCTA 0.398000 38 68 3.43241e-23 6.07556e-23 0.002222 1 0 OR4A47 403253 broad.mit.edu 37 11 48510913 48510913 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:48510913C>A ENST00000446524.1 + 1 645 c.569C>A c.(568-570)aCc>aAc p.T190N NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGCACTGACACCCATGCTATT 0.438000 28 107 3.73148e-12 5.58877e-12 0.007291 1 0 QTRT1 81890 broad.mit.edu 37 19 10823446 10823446 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:10823446G>C ENST00000250237.5 + 8 884 c.874G>C c.(874-876)Gcc>Ccc p.A292P NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 292 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CTTTGGCTCTGCCCTGGTGCC 0.622000 29 114 0 0 0.004878 0 0 KDR 3791 broad.mit.edu 37 4 55972944 55972944 + Nonsense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:55972944A>T ENST00000263923.4 - 11 1741 c.1446T>A c.(1444-1446)tgT>tgA p.C482* NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 482 Ig-like C2-type 5. C -> R (in HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced and KDR activity is increased compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation predicts to result in loss-of-function and disruption of the normal association of these molecules; dbSNP:rs34231037). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCCATTCTTCACAAGGGTATG 0.338000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 5 42 0 0 0.001168 0 0 PNPLA7 375775 broad.mit.edu 37 9 140356475 140356475 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:140356475C>A ENST00000406427.1 - 32 4000 c.3664G>T c.(3664-3666)Ggg>Tgg p.G1222W PNPLA7_ENST00000277531.4_Missense_Mutation_p.G1197W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G803W NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1197 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) ACCGTGCGCCCGTGCTGGTAG 0.672000 7 10 5.18039e-06 6.39817e-06 0.003080 1 0 ST8SIA5 29906 broad.mit.edu 37 18 44260100 44260100 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:44260100C>A ENST00000315087.7 - 7 1696 c.1036G>T c.(1036-1038)Ggc>Tgc p.G346C ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315C|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382C|ST8SIA5_ENST00000590497.1_5'UTR NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 346 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GCGTGGAAGCCGGGACGCGGC 0.607000 30 47 2.47511e-08 3.35762e-08 0.008361 1 0 SGIP1 84251 broad.mit.edu 37 1 67195021 67195021 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:67195021C>A ENST00000371037.4 + 20 1894 c.1817C>A c.(1816-1818)cCg>cAg p.P606Q SGIP1_ENST00000371035.3_Missense_Mutation_p.P396Q|SGIP1_ENST00000371036.3_Missense_Mutation_p.P408Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.P409Q|SGIP1_ENST00000435165.2_Missense_Mutation_p.P111Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.P637Q NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 606 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GCCAACAACCCGTCCCCAGCT 0.453000 36 92 4.11147e-13 6.2859e-13 0.003755 1 0 SPTBN5 51332 broad.mit.edu 37 15 42143102 42143102 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:42143102G>T ENST00000320955.6 - 66 11098 c.10871C>A c.(10870-10872)cCg>cAg p.P3624Q NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3624 PH. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTCTTCGGACGGTGCTGCAAA 0.682000 3 6 0.000602214 0.000690929 0.000602 1 0 SLC25A36 55186 broad.mit.edu 37 3 140692765 140692765 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:140692765G>T ENST00000446041.2 + 6 885 c.660G>T c.(658-660)gtG>gtT p.V220V SLC25A36_ENST00000453248.2_Silent_p.V194V|SLC25A36_ENST00000324194.6_Silent_p.V220V NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 220 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 AAGAGTCTGTGAAAGAAGCAT 0.348000 14 18 4.3838e-07 5.6133e-07 0.001855 1 0 CECR1 51816 broad.mit.edu 37 22 17684454 17684454 + Splice_Site SNP G G C rs148936893 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:17684454G>C ENST00000399839.1 - 4 1022 c.753_splice c.e4+1 p.P251_splice CECR1_ENST00000262607.3_Splice_Site_p.P251_splice|CECR1_ENST00000399837.2_Splice_Site_p.P251_splice|CECR1_ENST00000449907.2_Splice_Site_p.P209_splice Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 251 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TGGGCTCACCGGCAGCAGCCT 0.532000 8 28 0 0 0.003080 0 0 HERC2 8924 broad.mit.edu 37 15 28437249 28437249 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:28437249C>A ENST00000261609.7 - 53 8417 c.8309G>T c.(8308-8310)tGc>tTc p.C2770F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2770 DOC. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCTGCTGTGGCAACGCTTCAG 0.527000 OREG0022997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 137 1.61788e-16 2.65766e-16 0.002445 1 0 NOP56 10528 broad.mit.edu 37 20 2637485 2637485 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr20:2637485G>C ENST00000329276.5 + 10 1741 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 409 Nop. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GTCCTTCTATGAGACTGGAGA 0.512000 15 64 0 0 0.002450 0 0 C7 730 broad.mit.edu 37 5 40945382 40945382 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:40945382C>T ENST00000313164.9 + 7 1009 c.650C>T c.(649-651)tCa>tTa p.S217L NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 217 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAACACACATCATCTAGTCGG 0.303000 5 29 0 0 0.000602 0 0 GPR31 2853 broad.mit.edu 37 6 167570401 167570401 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:167570401C>G ENST00000366834.1 - 1 1416 c.919G>C c.(919-921)Gca>Cca p.A307P NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 307 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GGGGGCTCTGCTGCCTGCCCT 0.557000 4 48 0 0 0.000248 0 0 DNAH5 1767 broad.mit.edu 37 5 13885257 13885257 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:13885257T>A ENST00000265104.4 - 19 2928 c.2824A>T c.(2824-2826)Acg>Tcg p.T942S CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 942 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) TTTTTCCTCGTGACTGTCGTC 0.418000 Kartagener syndrome 23 53 0 0 0.002780 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501930 90501930 + Missense_Mutation SNP G G T rs140371966 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:90501930G>T ENST00000325643.5 + 4 2594 c.2528G>T c.(2527-2529)tGt>tTt p.C843F NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GTAAGGTTCTGTGTGAGGCAC 0.577000 12 32 2.27111e-07 2.94222e-07 0.001368 1 0 GPR162 27239 broad.mit.edu 37 12 6933684 6933684 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:6933684G>T ENST00000311268.3 + 2 1407 c.620G>T c.(619-621)tGg>tTg p.W207L GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 207 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CAGACACTGTGGGCCCGGCCC 0.652000 14 77 2.61681e-11 3.84962e-11 0.002450 1 0 AMPD1 270 broad.mit.edu 37 1 115220608 115220608 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:115220608C>A ENST00000369538.3 - 8 1281 c.1234G>T c.(1234-1236)Gga>Tga p.G412* AMPD1_ENST00000353928.6_Nonsense_Mutation_p.G383*|AMPD1_ENST00000520113.2_Nonsense_Mutation_p.G416* NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 383 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TCACTTGCTCCTACAGGATTA 0.423000 19 46 0.00074312 0.000849647 0.006122 1 0 F8 2157 broad.mit.edu 37 X 154197711 154197711 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:154197711G>T ENST00000360256.4 - 7 1104 c.904C>A c.(904-906)Cag>Aag p.Q302K NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 302 F5/8 type A 1.|Plastocyanin-like 2. Missing (in HEMA). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAGGACGCCTGGCGATGGTTC 0.458000 51 129 1.21353e-23 2.15957e-23 0.003610 1 0 PCMTD1 115294 broad.mit.edu 37 8 52733173 52733173 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:52733173C>G ENST00000360540.5 - 7 1218 c.812G>C c.(811-813)aGg>aCg p.R271T PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271T|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195T|PCMTD1_ENST00000519559.1_5'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 271 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity p.R271M(2) NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GGGTGGAGCCCTTTGAGGAAT 0.423000 6 169 0 0 0.001984 0 0 DMWD 1762 broad.mit.edu 37 19 46289893 46289893 + Silent SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:46289893G>C ENST00000270223.6 - 3 906 c.861C>G c.(859-861)ctC>ctG p.L287L DMWD_ENST00000377735.3_Silent_p.L287L NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 287 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CGAACTCGTTGAGGGGCCCCT 0.667000 4 35 0 0 0.000248 0 0 FLCN 201163 broad.mit.edu 37 17 17117142 17117142 + Nonsense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:17117142T>A ENST00000285071.4 - 14 2021 c.1567A>T c.(1567-1569)Aag>Tag p.K523* RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 523 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CTGTCCACCTTGGTGAACTTA 0.522000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 33 93 0 0 0.003271 0 0 IRX1 79192 broad.mit.edu 37 5 3599534 3599534 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:3599534G>A ENST00000302006.3 + 2 524 c.472G>A c.(472-474)Ggc>Agc p.G158S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 158 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCCCACCAAGGGCGAGAAGAT 0.637000 15 94 0 0 0.004990 0 0 MICAL3 57553 broad.mit.edu 37 22 18384718 18384718 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:18384718G>A ENST00000441493.2 - 5 969 c.617C>T c.(616-618)cCc>cTc p.P206L MICAL3_ENST00000429452.1_Missense_Mutation_p.P206L|MICAL3_ENST00000585038.1_Missense_Mutation_p.P206L|MICAL3_ENST00000400561.2_Missense_Mutation_p.P206L|MICAL3_ENST00000207726.7_Missense_Mutation_p.P206L|MICAL3_ENST00000414725.2_Missense_Mutation_p.P206L|MICAL3_ENST00000444520.1_Missense_Mutation_p.P206L|MICAL3_ENST00000383094.3_Missense_Mutation_p.P206L NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 206 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ATGAGTCTTGGGGTGCACCAG 0.532000 5 30 0 0 0.001168 0 0 FOXM1 2305 broad.mit.edu 37 12 2968029 2968029 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:2968029A>G ENST00000342628.2 - 10 2294 c.2181T>C c.(2179-2181)ttT>ttC p.F727F FOXM1_ENST00000361953.3_Silent_p.F674F|FOXM1_ENST00000359843.3_Silent_p.F689F|ITFG2_ENST00000545509.1_Intron NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 689 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) AAGAGTTGCCAAAGGGGACGG 0.567000 8 60 0 0 0.003080 0 0 TOR1B 27348 broad.mit.edu 37 9 132566477 132566477 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr9:132566477G>T ENST00000259339.2 + 2 385 c.325G>T c.(325-327)Ggc>Tgc p.G109C TOR1B_ENST00000486372.1_3'UTR NM_014506.1 NP_055321.1 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) 109 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding endometrium(3)|kidney(1)|large_intestine(1)|lung(7) 12 Ovarian(14;0.0586) TTCCTTACACGGCTGGGCTGG 0.468000 20 77 1.56452e-12 2.3539e-12 0.007413 1 0 MAGEL2 54551 broad.mit.edu 37 15 23890121 23890121 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:23890121C>A ENST00000532292.1 - 1 1054 c.960G>T c.(958-960)gaG>gaT p.E320D NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGCTTTGGACCTCCCAGTCAC 0.612000 10 59 1.58986e-06 1.98958e-06 0.008291 1 0 FLJ36000 284124 broad.mit.edu 37 17 21909466 21909466 + RNA SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:21909466G>C ENST00000581223.2 + 0 191 NR_027084.1 ATGCCCCACGGTAGCACATTG 0.552000 2 2 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100696667 100696667 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:100696667G>C ENST00000306151.4 + 11 13377 c.13313G>C c.(13312-13314)aGt>aCt p.S4438T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4438 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGAGGACAGTGGACCAGCT 0.463000 24 13 0 0 0.003954 0 0 PML 5371 broad.mit.edu 37 15 74337282 74337282 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr15:74337282G>T ENST00000565898.1 + 8 2522 c.2438G>T c.(2437-2439)cGg>cTg p.R813L PML_ENST00000268058.3_Missense_Mutation_p.R861L P29590 PML_HUMAN promyelocytic leukemia 861 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GCGCTGGCACGGGCAGAAGGA 0.652000 T """RARA, PAX5""" """APL, ALL""" 10 66 9.70103e-10 1.37518e-09 0.008291 1 0 KRT34 3885 broad.mit.edu 37 17 39535834 39535834 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:39535834C>G ENST00000394001.1 - 4 894 c.864G>C c.(862-864)tgG>tgC p.W288C NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 288 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) GCGTGGCGAACCATTGCTCCA 0.592000 17 127 0 0 0.004990 0 0 LNP1 348801 broad.mit.edu 37 3 100170692 100170692 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:100170692G>A ENST00000383693.3 + 3 1566 c.286G>A c.(286-288)Gag>Aag p.E96K LNP1_ENST00000489752.1_Missense_Mutation_p.E109K NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 96 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GTCATTCAAGGAGCCACTGGA 0.448000 14 60 0 0 0.004007 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005197 102005197 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:102005197G>T ENST00000372735.1 + 4 1859 c.1274G>T c.(1273-1275)gGa>gTa p.G425V BHLHB9_ENST00000361229.4_Missense_Mutation_p.G425V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.G425V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.G425V Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 425 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGCAATCTGGATTAAAGATA 0.388000 22 80 1.28384e-07 1.68297e-07 0.001882 1 0 MXRA5 25878 broad.mit.edu 37 X 3229500 3229500 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:3229500C>A ENST00000217939.6 - 7 6898 c.6744G>T c.(6742-6744)aaG>aaT p.K2248N NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2248 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTTCTCCTCCTTGTGTTCAA 0.542000 39 74 1.7489e-18 2.96106e-18 0.002852 1 0 SLC9A7 84679 broad.mit.edu 37 X 46508189 46508189 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:46508189G>T ENST00000328306.4 - 11 1416 c.1391C>A c.(1390-1392)tCc>tAc p.S464Y NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 464 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GAGGAAGAAGGAGAGCGGGTA 0.463000 28 46 9.80776e-20 1.67771e-19 0.006320 1 0 ZNF511 118472 broad.mit.edu 37 10 135165895 135165895 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr10:135165895T>A ENST00000368554.4 + 8 906 c.884T>A c.(883-885)gTg>gAg p.V295E PRAP1_ENST00000423766.1_Missense_Mutation_p.V137E|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000433452.2_Missense_Mutation_p.V136E|PRAP1_ENST00000458230.1_Missense_Mutation_p.V127E Q8NB15 ZN511_HUMAN zinc finger protein 511 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) AATCACCAGGTGCTCCTGGGA 0.662000 12 66 0 0 0.003163 0 0 ANK2 287 broad.mit.edu 37 4 114274602 114274602 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:114274602G>T ENST00000357077.4 + 38 4881 c.4828G>T c.(4828-4830)Gaa>Taa p.E1610* ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1577* NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1577 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCACCTTTAGAAATCACTGA 0.403000 26 26 4.72057e-08 6.31317e-08 0.003954 1 0 SERPINA10 51156 broad.mit.edu 37 14 94756459 94756459 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:94756459G>T ENST00000554723.1 - 2 1010 c.592C>A c.(592-594)Ctg>Atg p.L198M SERPINA10_ENST00000554173.1_Missense_Mutation_p.L158M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L158M|SERPINA10_ENST00000393096.1_Missense_Mutation_p.L158M Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 158 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GTGAGGCCCAGTTCCAGGTTG 0.522000 29 41 9.65021e-13 1.46524e-12 0.002096 1 0 COL18A1 80781 broad.mit.edu 37 21 46896376 46896376 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:46896376A>T ENST00000359759.4 + 5 2176 c.2155A>T c.(2155-2157)Acg>Tcg p.T719S COL18A1_ENST00000400337.2_Missense_Mutation_p.T304S|COL18A1_ENST00000355480.5_Missense_Mutation_p.T484S P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 719 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGAGCAGACCACGGTGGCTTC 0.572000 8 10 0 0 0.003080 0 0 MXRA8 54587 broad.mit.edu 37 1 1290644 1290644 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:1290644C>A ENST00000309212.6 - 4 488 c.458G>T c.(457-459)cGc>cTc p.R153L MXRA8_ENST00000342753.4_Missense_Mutation_p.R52L|MXRA8_ENST00000445648.2_Missense_Mutation_p.R153L NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 153 Ig-like V-type 1. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GACCTCCAGGCGGACGGCCAG 0.741000 9 23 3.07112e-06 3.81441e-06 0.000978 1 0 CSTF2 1478 broad.mit.edu 37 X 100078902 100078902 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:100078902G>C ENST00000415585.2 + 5 494 c.472G>C c.(472-474)Gca>Cca p.A158P CSTF2_ENST00000372972.2_Missense_Mutation_p.A158P|CSTF2_ENST00000486615.1_Intron P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 158 Interactions with CSTF3 and SYMPK. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 TCCCCAGGAGGCACGGAACAT 0.458000 36 101 0 0 0.003755 0 0 TEX14 56155 broad.mit.edu 37 17 56665328 56665328 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:56665328A>T ENST00000389934.3 - 16 2748 c.2631T>A c.(2629-2631)agT>agA p.S877R TEX14_ENST00000349033.5_Missense_Mutation_p.S877R|TEX14_ENST00000240361.8_Missense_Mutation_p.S883R NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 883 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAAGAGTGcactattaaact 0.493000 OREG0024616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 56 0 0 0.000978 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130319288 130319288 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:130319288C>T ENST00000299164.2 + 1 420 c.420C>T c.(418-420)ccC>ccT p.P140P NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 140 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCCCGCTGCCCAATGCTAGCG 0.706000 23 34 0 0 0.002299 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868938 22868938 + Nonsense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr22:22868938G>T ENST00000302097.3 - 2 1269 c.1017C>A c.(1015-1017)tgC>tgA p.C339* NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ACTGCCGGTGGCAGTGCTGGC 0.458000 32 92 3.93418e-24 7.03899e-24 0.004289 1 0 SETBP1 26040 broad.mit.edu 37 18 42531648 42531648 + Silent SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:42531648A>G ENST00000282030.5 + 4 2639 c.2343A>G c.(2341-2343)acA>acG p.T781T NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 781 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACTTTCAACACAGTTAGGTG 0.522000 Schinzel-Giedion syndrome 36 32 0 0 0.004289 0 0 INTU 27152 broad.mit.edu 37 4 128626894 128626894 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:128626894G>T ENST00000335251.5 + 11 1818 c.1715G>T c.(1714-1716)cGa>cTa p.R572L INTU_ENST00000512995.1_3'UTR NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 572 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 CATCACCTCCGACCTTTGGCA 0.448000 46 79 7.05377e-20 1.21288e-19 0.003610 1 0 CUL4A 8451 broad.mit.edu 37 13 113887578 113887578 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:113887578C>T ENST00000451881.1 + 6 549 c.300C>T c.(298-300)atC>atT p.I100I CUL4A_ENST00000375441.3_Silent_p.I100I|CUL4A_ENST00000326335.4_Silent_p.I100I|CUL4A_ENST00000375440.4_Silent_p.I200I NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 200 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TACTGCTGATCGAGCGCGAGA 0.512000 7 64 0 0 0.001984 0 0 KIAA1456 57604 broad.mit.edu 37 8 12879006 12879006 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:12879006A>G ENST00000524591.2 + 5 1307 c.818A>G c.(817-819)aAc>aGc p.N273S KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 273 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 CCCTTGAAAAACACAGAAGTT 0.418000 20 52 0 0 0.008871 0 0 M1AP 130951 broad.mit.edu 37 2 74802690 74802690 + Missense_Mutation SNP C C T rs140179344 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:74802690C>T ENST00000290536.5 - 7 1065 c.949G>A c.(949-951)Ggg>Agg p.G317R M1AP_ENST00000409585.1_Missense_Mutation_p.G317R|M1AP_ENST00000358434.2_Missense_Mutation_p.G35R|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.G317R NM_138804.3 NP_620159.2 meiosis 1 associated protein TCGCAGAGCCCGCTAGATTTT 0.448000 14 103 0 0 0.003163 0 0 GIPC2 54810 broad.mit.edu 37 1 78546513 78546513 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:78546513C>A ENST00000370759.3 + 2 588 c.395C>A c.(394-396)aCa>aAa p.T132K GIPC2_ENST00000476882.1_3'UTR NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 132 PDZ. cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 CTCACCATTACAGATAATGGT 0.338000 16 39 1.15088e-07 1.51167e-07 0.004007 1 0 ATP1A2 477 broad.mit.edu 37 1 160111106 160111106 + Nonsense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:160111106C>A ENST00000361216.3 + 23 3146 c.3057C>A c.(3055-3057)taC>taA p.Y1019* ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.Y1008* NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 1019 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGGAGACATACTACTGACCCC 0.512000 13 55 0.000151284 0.000177571 0.001855 1 0 NR4A2 4929 broad.mit.edu 37 2 157184499 157184499 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:157184499C>T ENST00000339562.4 - 5 1384 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q NR4A2_ENST00000426264.1_Missense_Mutation_p.R278Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R341Q|NR4A2_ENST00000429376.1_Missense_Mutation_p.R278Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R352Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.R341Q NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 341 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 ACGACCTCTCCGGCCTTTTAA 0.642000 4 17 0 0 0.000248 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359046 64359046 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:64359046C>G ENST00000377574.1 + 1 765 c.18C>G c.(16-18)ctC>ctG p.L6L SLC22A12_ENST00000377572.1_Silent_p.L6L|SLC22A12_ENST00000377567.2_Silent_p.L6L|SLC22A12_ENST00000336464.7_Silent_p.L6L|SLC22A12_ENST00000473690.1_Intron NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 6 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TTTCTGAACTCCTGGACCTCG 0.592000 29 128 0 0 0.008361 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294720 110294720 + Missense_Mutation SNP G G C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:110294720G>C ENST00000369805.3 - 15 1563 c.1334C>G c.(1333-1335)tCc>tGc p.S445C EPS8L3_ENST00000361965.4_Missense_Mutation_p.S444C|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S414C NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 444 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TTTGGGGCTGGAGGGCCTGGA 0.572000 32 210 0 0 0.002836 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912052 101912052 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:101912052C>G ENST00000537097.1 + 6 4024 c.3211C>G c.(3211-3213)Ccg>Gcg p.P1071A GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1071A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1071A|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1071A NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1071 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTTTAGATTTCCGAAAGAGGC 0.512000 104 189 0 0 0.003610 0 0 OR5T2 219464 broad.mit.edu 37 11 55999734 55999734 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:55999734C>T ENST00000313264.4 - 1 1003 c.928G>A c.(928-930)Gac>Aac p.D310N NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACTATCATGTCATGGTCCGAA 0.398000 22 83 0 0 0.002299 0 0 DCDC1 341019 broad.mit.edu 37 11 31086701 31086701 + Splice_Site SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:31086701C>A ENST00000597505.1 - 17 2298 c.e17-1 DCDC1_ENST00000437348.1_Splice_Site P59894 DCDC1_HUMAN doublecortin domain containing 1 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GAGGATAAGCCTGTAAGAAAG 0.393000 13 28 0.00185496 0.00210271 0.001855 1 0 BRIP1 83990 broad.mit.edu 37 17 59938841 59938841 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:59938841T>C ENST00000259008.2 - 2 327 c.60A>G c.(58-60)aaA>aaG p.K20K BRIP1_ENST00000577598.1_Silent_p.K20K NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 20 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 ACGGGTAAGCTTTATAAGGAA 0.328000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 18 41 0 0 0.007413 0 0 SCML1 6322 broad.mit.edu 37 X 17768022 17768022 + Silent SNP T T C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:17768022T>C ENST00000380043.3 + 5 559 c.231T>C c.(229-231)taT>taC p.Y77Y SCML1_ENST00000398080.1_5'UTR|SCML1_ENST00000380041.3_Silent_p.Y104Y|SCML1_ENST00000380045.3_5'UTR NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 104 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) AGAAGCGATATGGATATAAAA 0.318000 53 81 0 0 0.003610 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350926 50350926 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:50350926G>A ENST00000376020.2 - 6 3241 c.3216C>T c.(3214-3216)gcC>gcT p.A1072A SHROOM4_ENST00000289292.7_Silent_p.A1072A|SHROOM4_ENST00000460112.3_Silent_p.A956A NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1072 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GCTGCCCCCAGGCCCGGGTGC 0.617000 23 45 0 0 0.002780 0 0 GPR142 350383 broad.mit.edu 37 17 72368049 72368049 + Silent SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:72368049G>T ENST00000335666.4 + 4 747 c.699G>T c.(697-699)acG>acT p.T233T NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 233 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 TGGTGCGCACGGCCAACATCC 0.642000 9 25 0.000274275 0.00031743 0.004482 1 0 ATP5B 506 broad.mit.edu 37 12 57033788 57033788 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr12:57033788G>A ENST00000262030.3 - 8 1313 c.1263C>T c.(1261-1263)gcC>gcT p.A421A ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Silent_p.A410A NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 421 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCACCCCACGGGCAACATCGT 0.502000 13 59 0 0 0.002450 0 0 MYH6 4624 broad.mit.edu 37 14 23869595 23869595 + Missense_Mutation SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr14:23869595T>A ENST00000405093.3 - 14 1521 c.1451A>T c.(1450-1452)gAg>gTg p.E484V MYH6_ENST00000356287.3_Missense_Mutation_p.E484V NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 484 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTGCAGCTTCTCGTTGGTGAA 0.537000 26 37 0 0 0.004656 0 0 MED14 9282 broad.mit.edu 37 X 40562805 40562805 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:40562805T>A ENST00000324817.1 - 11 1420 c.1302A>T c.(1300-1302)gcA>gcT p.A434A NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 434 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAGCTGGGAGTGCAGTCTCTA 0.338000 12 20 0 0 0.001368 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347960 38347960 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:38347960G>T ENST00000273173.4 + 1 534 c.443G>T c.(442-444)gGc>gTc p.G148V SLC22A14_ENST00000448498.1_Missense_Mutation_p.G148V NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 148 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) ATCCAGTTTGGCCTCAATGAC 0.478000 37 106 5.71845e-15 9.144e-15 0.005524 1 0 CRIM1 51232 broad.mit.edu 37 2 36744655 36744655 + Missense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:36744655A>T ENST00000280527.2 + 12 2543 c.2176A>T c.(2176-2178)Acc>Tcc p.T726S NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 726 VWFC 4. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CCCCTCACGCACCCAGGATTC 0.597000 22 69 0 0 0.003330 0 0 MED12L 116931 broad.mit.edu 37 3 151101949 151101949 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:151101949C>A ENST00000474524.1 + 33 4802 c.4764C>A c.(4762-4764)tcC>tcA p.S1588S MED12L_ENST00000273432.4_Silent_p.S1448S|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1588 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAAATGCATCCCCTGGGGGAT 0.358000 22 33 5.49717e-05 6.55698e-05 0.003330 1 0 DDX60 55601 broad.mit.edu 37 4 169196580 169196580 + Silent SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:169196580C>G ENST00000393743.3 - 16 2511 c.2220G>C c.(2218-2220)ctG>ctC p.L740L NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 740 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CCATGTATTGCAGTTGGAACC 0.403000 13 33 0 0 0.001855 0 0 TTC37 9652 broad.mit.edu 37 5 94863776 94863776 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:94863776C>T ENST00000358746.2 - 13 1373 c.1075G>A c.(1075-1077)Gct>Act p.A359T NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 359 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TTAATCAAAGCCTCTGCTTTC 0.378000 14 27 0 0 0.003163 0 0 HLTF 6596 broad.mit.edu 37 3 148789207 148789207 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:148789207T>A ENST00000310053.5 - 7 919 c.726A>T c.(724-726)ccA>ccT p.P242P HLTF_ENST00000465259.1_Silent_p.P242P|HLTF_ENST00000392912.2_Silent_p.P242P|HLTF_ENST00000494055.1_Silent_p.P242P NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 242 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTTTTTGATGTGGAAGCAGTG 0.358000 12 21 0 0 0.004007 0 0 OR10W1 81341 broad.mit.edu 37 11 58035220 58035220 + Silent SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:58035220C>A ENST00000395079.2 - 1 512 c.111G>T c.(109-111)gtG>gtT p.V37V NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) GAATGGACACCACAATGAGAA 0.493000 10 62 0.000442599 0.000509567 0.006214 1 0 GRIN2A 2903 broad.mit.edu 37 16 9857957 9857957 + Silent SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr16:9857957C>T ENST00000396573.2 - 14 3753 c.3444G>A c.(3442-3444)ccG>ccA p.P1148P GRIN2A_ENST00000330684.3_Silent_p.P1148P|GRIN2A_ENST00000396575.2_Silent_p.P1148P|GRIN2A_ENST00000562109.1_Silent_p.P1148P|GRIN2A_ENST00000404927.2_Silent_p.P1148P|GRIN2A_ENST00000535259.1_Silent_p.P991P NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1148 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTAGGGGTCCGGGAAGTCCA 0.527000 50 124 0 0 0.003610 0 0 DQX1 165545 broad.mit.edu 37 2 74751353 74751353 + Missense_Mutation SNP C C A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:74751353C>A ENST00000404568.3 - 4 732 c.513G>T c.(511-513)gaG>gaT p.E171D DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.E171D NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 171 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 GCTCCTGAGCCTCATCTAGTA 0.597000 19 129 1.15919e-05 1.41323e-05 0.008871 1 0 SCN5A 6331 broad.mit.edu 37 3 38598729 38598729 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr3:38598729G>A ENST00000413689.1 - 24 4485 c.4292C>T c.(4291-4293)tCc>tTc p.S1431F SCN5A_ENST00000455624.2_Missense_Mutation_p.S1430F|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1377F|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1430F|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1430F|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1431F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1431 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) TACCCCCCTGGAGTCCACAGC 0.502000 5 55 0 0 0.004482 0 0 COL18A1 80781 broad.mit.edu 37 21 46901927 46901927 + Silent SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr21:46901927G>A ENST00000359759.4 + 13 2928 c.2907G>A c.(2905-2907)caG>caA p.Q969Q COL18A1_ENST00000400337.2_Silent_p.Q554Q|COL18A1_ENST00000355480.5_Silent_p.Q734Q P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 969 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGACTGGGCAGAAAGGCAGCC 0.647000 7 33 0 0 0.004482 0 0 SBDS 51119 broad.mit.edu 37 7 66456250 66456250 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:66456250C>G ENST00000246868.2 - 4 681 c.498G>C c.(496-498)aaG>aaC p.K166N NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 166 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 CACGTTCTATCTTCATTTTCT 0.373000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 4 30 0 0 0.000602 0 0 P2RY8 286530 broad.mit.edu 37 X 1584790 1584790 + Nonsense_Mutation SNP A A T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:1584790A>T ENST00000381297.4 - 2 872 c.662T>A c.(661-663)tTg>tAg p.L221* NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 221 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCCGTGCGCAACAGCTTGAG 0.647000 T CRLF2 """B-ALL, Downs associated ALL""" 12 26 0 0 0.000978 0 0 SETDB2 83852 broad.mit.edu 37 13 50034254 50034254 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:50034254A>G ENST00000354234.4 + 3 934 c.28A>G c.(28-30)Act>Gct p.T10A SETDB2_ENST00000317257.8_Missense_Mutation_p.T10A|SETDB2_ENST00000258672.5_Missense_Mutation_p.T10A NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 10 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CGATGCAAAAACTTTCTGGAT 0.328000 50 108 0 0 0.003610 0 0 ZFHX4 79776 broad.mit.edu 37 8 77762527 77762527 + Missense_Mutation SNP C C G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:77762527C>G ENST00000521891.2 + 9 4341 c.3893C>G c.(3892-3894)gCa>gGa p.A1298G ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1253G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1253G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1272G NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1253 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) CTACTGCCAGCAGCTGCCTCT 0.478000 HNSCC(33;0.089) 3 17 0 0 0.004672 0 0 BRDT 676 broad.mit.edu 37 1 92441925 92441925 + Missense_Mutation SNP A A G TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:92441925A>G ENST00000370389.2 + 5 1253 c.329A>G c.(328-330)aAg>aGg p.K110R BRDT_ENST00000399546.2_Missense_Mutation_p.K183R|BRDT_ENST00000362005.3_Missense_Mutation_p.K183R|BRDT_ENST00000394530.3_Missense_Mutation_p.K137R|BRDT_ENST00000402388.1_Missense_Mutation_p.K183R NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 183 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GTATTTCCTAAGACATCTATT 0.388000 19 45 0 0 0.007413 0 0 LPAR4 2846 broad.mit.edu 37 X 78010848 78010848 + Missense_Mutation SNP G G A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:78010848G>A ENST00000435339.2 + 2 887 c.482G>A c.(481-483)gGt>gAt p.G161D LPAR4_ENST00000373301.2_Missense_Mutation_p.G161D NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 161 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 GTGTGTGCTGGTGTCTGGATC 0.458000 40 93 0 0 0.005524 0 0 FDXR 2232 broad.mit.edu 37 17 72860303 72860303 + Silent SNP T T A TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:72860303T>A ENST00000455107.2 - 10 1253 c.837A>T c.(835-837)gcA>gcT p.A279A FDXR_ENST00000581530.1_Silent_p.A329A|FDXR_ENST00000442102.2_Silent_p.A366A|FDXR_ENST00000293195.5_Silent_p.A323A|FDXR_ENST00000583917.1_Silent_p.A295A|FDXR_ENST00000582944.1_Silent_p.A315A|FDXR_ENST00000544854.1_Silent_p.A271A|FDXR_ENST00000420580.2_Silent_p.A283A|FDXR_ENST00000413947.2_Silent_p.A354A P22570 ADRO_HUMAN ferredoxin reductase 323 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GGACACCTGCTGCCCGCCGCC 0.667000 8 49 0 0 0.004482 0 0 DCLK1 9201 broad.mit.edu 37 13 36410270 36410270 + Missense_Mutation SNP C C T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr13:36410270C>T ENST00000255448.4 - 8 1340 c.1129G>A c.(1129-1131)Gag>Aag p.E377K DCLK1_ENST00000360631.3_Missense_Mutation_p.E377K|DCLK1_ENST00000379893.1_Missense_Mutation_p.E70K NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 377 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAGCCTTCCTCCGACACTTCT 0.358000 31 95 0 0 0.002836 0 0 ZNF613 79898 broad.mit.edu 37 19 52447603 52447603 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr19:52447603G>T ENST00000293471.6 + 6 1146 c.467G>T c.(466-468)gGg>gTg p.G156V ZNF613_ENST00000391794.4_Missense_Mutation_p.G120V NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) AATTCTGTGGGGGTTAATGGA 0.348000 18 85 1.99824e-07 2.59888e-07 0.004990 1 0 MAPK14 1432 broad.mit.edu 37 6 36075254 36075254 + Missense_Mutation SNP G G T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:36075254G>T ENST00000229795.3 + 11 1311 c.864G>T c.(862-864)atG>atT p.M288I MAPK14_ENST00000468133.1_Missense_Mutation_p.M211I|MAPK14_ENST00000229794.4_Missense_Mutation_p.M288I|MAPK14_ENST00000310795.4_Missense_Mutation_p.C262F NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 288 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TGGAGAAGATGCTTGTATTGG 0.433000 59 96 1.37693e-34 2.53908e-34 0.003610 1 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 265 --- --- --- --- VCAM1 7412 broad.mit.edu 37 1 101196902 101196903 + Frame_Shift_Ins INS - - T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:101196902_101196903insT ENST00000294728.2 + 6 1454_1455 c.1353_1354insT c.(1351-1356)gattttfs p.DF451fs VCAM1_ENST00000370119.4_Frame_Shift_Ins_p.DF389fs|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Ins_p.DF359fs NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 451 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGAATATAGAGTTTTTGGAGGA 0.441 11 87 --- --- --- --- AKNAD1 254268 broad.mit.edu 37 1 109377596 109377596 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr1:109377596delG ENST00000370001.3 - 8 1887 c.1619delC c.(1618-1620)cgfs p.P540fs AKNAD1_ENST00000357393.4_Frame_Shift_Del_p.P247fs|AKNAD1_ENST00000369995.3_Frame_Shift_Del_p.P540fs|AKNAD1_ENST00000369994.1_Intron NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 540 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 GGCCTCCTGCGGCCCTCCTTG 0.662 13 46 --- --- --- --- HOXD12 3238 broad.mit.edu 37 2 176964687 176964689 + In_Frame_Del DEL CCA CCA - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr2:176964687_176964689delCCA ENST00000406506.2 + 1 230_232 c.158_160delCCA c.(157-162)gcg>g p.AT53del HOXD12_ENST00000404162.2_In_Frame_Del_p.AT53del P35452 HXD12_HUMAN homeobox D12 53 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A53D(1) central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CCCTGGGCCGCCACGCCCGCCTC 0.734 14 39 --- --- --- --- NPY2R 4887 broad.mit.edu 37 4 156135819 156135819 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr4:156135819delG ENST00000329476.3 + 2 1217 c.728delG c.(727-729)tgfs p.W243fs NPY2R_ENST00000506608.1_Frame_Shift_Del_p.W243fs NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 243 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ACTCGCATTTGGAGTAAATTG 0.443 30 66 --- --- --- --- ACOT12 134526 broad.mit.edu 37 5 80631600 80631600 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:80631600delC ENST00000307624.3 - 12 1277 c.1249delG c.(1249-1251)acfs p.D417fs ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 417 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AAATGGGGGTCCCACAAAGGT 0.393 39 54 --- --- --- --- CAMK4 814 broad.mit.edu 37 5 110818622 110818622 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr5:110818622delG ENST00000282356.4 + 10 1366 c.968delG c.(967-969)cgfs p.R324fs CAMK4_ENST00000512453.1_Frame_Shift_Del_p.R324fs|CAMK4_ENST00000512890.1_3'UTR NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 324 Calmodulin-binding (Potential). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTCAATGCCCGGCGTAAGCTT 0.368 10 17 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31594793 31594793 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:31594793delC ENST00000376033.2 + 11 1342 c.1108delC c.(1108-1110)ccfs p.P371fs PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P371fs NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 371 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TGAGGAACGGCCCCCTGAAGC 0.517 20 101 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100395721 100395721 + Frame_Shift_Del DEL C C - rs138925190 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:100395721delC ENST00000281806.2 - 3 623 c.309delG c.(307-309)ggfs p.G103fs MCHR2_ENST00000369212.1_Frame_Shift_Del_p.G103fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.G103fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 103 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGCAGAGAGGCCCCCCAAACA 0.488 43 94 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127837137 127837137 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr6:127837137delC ENST00000556132.1 - 2 1487 c.623delG c.(622-624)gcfs p.G208fs SOGA3_ENST00000368268.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.G208fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 208 Gly-rich. integral to membrane CCCGCCGCTGCCGCCCCTCTG 0.751 9 15 --- --- --- --- CLCN1 1180 broad.mit.edu 37 7 143039216 143039217 + Frame_Shift_Ins INS - - T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr7:143039216_143039217insT ENST00000343257.2 + 15 1864_1865 c.1777_1778insT c.(1777-1779)tggfs p.W593fs NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 593 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTTGCCTGACCTTGGCTGGAAC 0.535 24 28 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1497504 1497505 + Frame_Shift_Ins INS - - T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:1497504_1497505insT ENST00000421627.2 + 2 779_780 c.645_646insT c.(643-648)agggtgfs p.RV215fs NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 294 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) GCATGAGCAGCTGGTGGAGCTC 0.693 11 75 --- --- --- --- POTEA 340441 broad.mit.edu 37 8 43197456 43197456 + RNA DEL A A - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr8:43197456delA ENST00000522175.2 + 0 1209 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGAACAACTCAAAATGGATTT 0.363 18 60 --- --- --- --- TRIM48 79097 broad.mit.edu 37 11 55032507 55032507 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:55032507delG ENST00000417545.2 + 2 262 c.176delG c.(175-177)tgfs p.W59fs NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 43 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TACCTCAACTGGCAAGACATC 0.463 53 122 --- --- --- --- OR8K5 219453 broad.mit.edu 37 11 55927671 55927672 + Frame_Shift_Ins INS - - C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:55927671_55927672insC ENST00000313447.1 - 1 121_122 c.122_123insG c.(121-123)gaafs p.E41fs NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TAGTTAGGTTGCCCACCACTGT 0.426 16 83 --- --- --- --- OR5T3 390154 broad.mit.edu 37 11 56019980 56019980 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr11:56019980delG ENST00000303059.3 + 1 305 c.305delG c.(304-306)tcfs p.C102fs NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTGGATGCTTGCTATTCTACA 0.373 33 65 --- --- --- --- ITGA2B 3674 broad.mit.edu 37 17 42462399 42462399 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:42462399delC ENST00000262407.5 - 7 747 c.716delG c.(715-717)ccfs p.R239fs ITGA2B_ENST00000377068.3_Intron|ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.R239fs NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 239 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GATGCCTGGGCGGTAACTCGA 0.607 37 109 --- --- --- --- GPRC5C 55890 broad.mit.edu 37 17 72436961 72436961 + Frame_Shift_Del DEL T T - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr17:72436961delT ENST00000392627.1 + 2 2307 c.1181delT c.(1180-1182)gtfs p.V394fs GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Frame_Shift_Del_p.V361fs|GPRC5C_ENST00000342648.5_Frame_Shift_Del_p.V34fs NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 349 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GATGAGCCGGTTGCAGGTGGG 0.552 11 48 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 9 99 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131430 17131432 + RNA DEL CAC CAC - rs142037179 TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chr22:17131430_17131432delCAC ENST00000426585.1 + 0 2456_2458 caccatccatcaccaacagaaac 0.443 2 4 --- --- --- --- MSN 4478 broad.mit.edu 37 X 64957044 64957044 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:64957044delG ENST00000360270.5 + 10 1267 c.1095delG c.(1093-1095)ctfs p.L365fs MSN_ENST00000486030.1_3'UTR NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 365 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 GCTCAGAACTGGAAGAACAGA 0.532 T ALK ALCL 10 23 --- --- --- --- ARMCX2 9823 broad.mit.edu 37 X 100911734 100911735 + Frame_Shift_Ins INS - - T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:100911734_100911735insT ENST00000328766.5 - 5 1293_1294 c.840_841insA c.(838-843)aagtggfs p.W281fs ARMCX2_ENST00000356824.4_Frame_Shift_Ins_p.W281fs|ARMCX2_ENST00000330154.2_Frame_Shift_Ins_p.W281fs NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 281 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TTGCCTCCACCTTTGGGTACCG 0.584 42 304 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 7ba2ada7-2353-4035-b73c-9b2a3880a72c g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 9 321 --- --- --- --- VCAM1 7412 broad.mit.edu 37 1 101196902 101196903 + Frame_Shift_Ins INS - - T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:101196902_101196903insT ENST00000294728.2 + 6 1454_1455 c.1353_1354insT c.(1351-1356)gattttfs p.DF451fs VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Ins_p.DF359fs|VCAM1_ENST00000370119.4_Frame_Shift_Ins_p.DF389fs NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 451 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGAATATAGAGTTTTTGGAGGA 0.441 11 87 --- --- --- --- AKNAD1 254268 broad.mit.edu 37 1 109377596 109377596 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr1:109377596delG ENST00000370001.3 - 8 1887 c.1619delC c.(1618-1620)cgfs p.P540fs AKNAD1_ENST00000357393.4_Frame_Shift_Del_p.P247fs|AKNAD1_ENST00000369995.3_Frame_Shift_Del_p.P540fs|AKNAD1_ENST00000369994.1_Intron NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 540 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 GGCCTCCTGCGGCCCTCCTTG 0.662 13 46 --- --- --- --- HOXD12 3238 broad.mit.edu 37 2 176964687 176964689 + In_Frame_Del DEL CCA CCA - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr2:176964687_176964689delCCA ENST00000406506.2 + 1 230_232 c.158_160delCCA c.(157-162)gcg>g p.AT53del HOXD12_ENST00000404162.2_In_Frame_Del_p.AT53del P35452 HXD12_HUMAN homeobox D12 53 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A53D(1) central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CCCTGGGCCGCCACGCCCGCCTC 0.734 14 39 --- --- --- --- NPY2R 4887 broad.mit.edu 37 4 156135819 156135819 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr4:156135819delG ENST00000329476.3 + 2 1217 c.728delG c.(727-729)tgfs p.W243fs NPY2R_ENST00000506608.1_Frame_Shift_Del_p.W243fs NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 243 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ACTCGCATTTGGAGTAAATTG 0.443 30 66 --- --- --- --- ACOT12 134526 broad.mit.edu 37 5 80631600 80631600 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:80631600delC ENST00000307624.3 - 12 1277 c.1249delG c.(1249-1251)acfs p.D417fs ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 417 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AAATGGGGGTCCCACAAAGGT 0.393 39 54 --- --- --- --- CAMK4 814 broad.mit.edu 37 5 110818622 110818622 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr5:110818622delG ENST00000282356.4 + 10 1366 c.968delG c.(967-969)cgfs p.R324fs CAMK4_ENST00000512453.1_Frame_Shift_Del_p.R324fs|CAMK4_ENST00000512890.1_3'UTR NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 324 Calmodulin-binding (Potential). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTCAATGCCCGGCGTAAGCTT 0.368 10 17 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31594793 31594793 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:31594793delC ENST00000376033.2 + 11 1342 c.1108delC c.(1108-1110)ccfs p.P371fs PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P371fs NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 371 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TGAGGAACGGCCCCCTGAAGC 0.517 20 101 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100395721 100395721 + Frame_Shift_Del DEL C C - rs138925190 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:100395721delC ENST00000281806.2 - 3 623 c.309delG c.(307-309)ggfs p.G103fs MCHR2_ENST00000369212.1_Frame_Shift_Del_p.G103fs|MCHR2_ENST00000445970.1_Frame_Shift_Del_p.G103fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 103 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) TGCAGAGAGGCCCCCCAAACA 0.488 43 94 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127837137 127837137 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr6:127837137delC ENST00000556132.1 - 2 1487 c.623delG c.(622-624)gcfs p.G208fs SOGA3_ENST00000368268.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.G208fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.G208fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 208 Gly-rich. integral to membrane CCCGCCGCTGCCGCCCCTCTG 0.751 9 15 --- --- --- --- CLCN1 1180 broad.mit.edu 37 7 143039216 143039217 + Frame_Shift_Ins INS - - T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:143039216_143039217insT ENST00000343257.2 + 15 1864_1865 c.1777_1778insT c.(1777-1779)tggfs p.W593fs NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 593 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTTGCCTGACCTTGGCTGGAAC 0.535 24 28 --- --- --- --- ZNF282 8427 broad.mit.edu 37 7 148920939 148920940 + Frame_Shift_Ins INS - - C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr7:148920939_148920940insC ENST00000262085.3 + 8 1321_1322 c.1216_1217insC c.(1216-1218)cccfs p.P406fs ZNF282_ENST00000479907.1_Frame_Shift_Ins_p.P406fs NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 406 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) cccacccccggccccgccacag 0.703 3 4 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1497504 1497505 + Frame_Shift_Ins INS - - T TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:1497504_1497505insT ENST00000421627.2 + 2 779_780 c.645_646insT c.(643-648)agggtgfs p.RV215fs NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 294 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) GCATGAGCAGCTGGTGGAGCTC 0.693 11 75 --- --- --- --- POTEA 340441 broad.mit.edu 37 8 43197456 43197456 + RNA DEL A A - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr8:43197456delA ENST00000522175.2 + 0 1209 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGAACAACTCAAAATGGATTT 0.363 18 60 --- --- --- --- TRIM48 79097 broad.mit.edu 37 11 55032507 55032507 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:55032507delG ENST00000417545.2 + 2 262 c.176delG c.(175-177)tgfs p.W59fs NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 43 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TACCTCAACTGGCAAGACATC 0.463 53 122 --- --- --- --- OR8K5 219453 broad.mit.edu 37 11 55927671 55927672 + Frame_Shift_Ins INS - - C TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:55927671_55927672insC ENST00000313447.1 - 1 121_122 c.122_123insG c.(121-123)gaafs p.E41fs NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TAGTTAGGTTGCCCACCACTGT 0.426 16 83 --- --- --- --- OR5T3 390154 broad.mit.edu 37 11 56019980 56019980 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr11:56019980delG ENST00000303059.3 + 1 305 c.305delG c.(304-306)tcfs p.C102fs NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTGGATGCTTGCTATTCTACA 0.373 33 65 --- --- --- --- ITGA2B 3674 broad.mit.edu 37 17 42462399 42462399 + Frame_Shift_Del DEL C C - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:42462399delC ENST00000262407.5 - 7 747 c.716delG c.(715-717)ccfs p.R239fs ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.R239fs|ITGA2B_ENST00000377068.3_Intron NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 239 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GATGCCTGGGCGGTAACTCGA 0.607 37 109 --- --- --- --- GPRC5C 55890 broad.mit.edu 37 17 72436961 72436961 + Frame_Shift_Del DEL T T - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr17:72436961delT ENST00000392627.1 + 2 2307 c.1181delT c.(1180-1182)gtfs p.V394fs GPRC5C_ENST00000392629.2_Frame_Shift_Del_p.V361fs|GPRC5C_ENST00000342648.5_Frame_Shift_Del_p.V34fs|GPRC5C_ENST00000481232.1_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 349 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GATGAGCCGGTTGCAGGTGGG 0.552 11 48 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24039787 24039787 + Frame_Shift_Del DEL T T - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chr18:24039787delT ENST00000417602.1 - 4 2235 c.2236delA c.(2236-2238)ggfs p.R746fs KCTD1_ENST00000408011.3_Frame_Shift_Del_p.R138fs|KCTD1_ENST00000317932.7_Frame_Shift_Del_p.R138fs|KCTD1_ENST00000579973.1_Frame_Shift_Del_p.R138fs|KCTD1_ENST00000580059.1_Frame_Shift_Del_p.R138fs NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 138 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) TCACAGGGCCTTGAAAATCGA 0.468 31 39 --- --- --- --- MSN 4478 broad.mit.edu 37 X 64957044 64957044 + Frame_Shift_Del DEL G G - TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:64957044delG ENST00000360270.5 + 10 1267 c.1095delG c.(1093-1095)ctfs p.L365fs MSN_ENST00000486030.1_3'UTR NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 365 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 GCTCAGAACTGGAAGAACAGA 0.532 T ALK ALCL 10 23 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-55-7281-01A-11D-2036-08 TCGA-55-7281-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5443922-fea5-4ff0-bd6e-8ce04e1951d8 ec4042d8-b035-4b3d-b560-8ef03f4fda1a g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 9 321 --- --- --- ---