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
PTPRU	10076	broad.mit.edu	37	1	29602053	29602053	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:29602053G>A	uc001bru.3	+	7	1367	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	PTPRU_uc009vtq.3_Missense_Mutation_p.R413H|PTPRU_uc009vtr.3_Missense_Mutation_p.R413H|PTPRU_uc001brw.3_Missense_Mutation_p.R413H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	413	Fibronectin type-III 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AACGTGACGCGTTGCCACACC	0.592												
CYP4B1	1580	broad.mit.edu	37	1	47282838	47282838	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:47282838C>T	uc001cqn.4	+	8	1276	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CYP4B1_uc001cqm.4_Missense_Mutation_p.R397W|CYP4B1_uc009vym.3_Missense_Mutation_p.R383W|CYP4B1_uc010omk.2_Missense_Mutation_p.R234W	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	397					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGTGGATGGCCGGTCTCTACC	0.567												
LYST	1130	broad.mit.edu	37	1	235860518	235860518	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:235860518T>C	uc001hxj.2	-	45	10604	c.10429A>G	c.(10429-10431)Agt>Ggt	p.S3477G	LYST_uc001hxi.2_Missense_Mutation_p.S701G	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3477					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTGGAGCACTGGGGGAACCC	0.473												
RYR2	6262	broad.mit.edu	37	1	237890471	237890471	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:237890471C>T	uc001hyl.1	+	75	10930	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	RYR2_uc010pya.2_5'UTR|RYR2_uc021pkz.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3604					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)			AGCCTGCTTCCGGATGGCCCC	0.403												
STAMBPL1	57559	broad.mit.edu	37	10	90674395	90674395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr10:90674395G>T	uc001kfk.3	+	6	1306	c.883G>T	c.(883-885)Gga>Tga	p.G295*	STAMBPL1_uc010qmx.1_Nonsense_Mutation_p.G295*|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Nonsense_Mutation_p.G295*|STAMBPL1_uc001kfn.3_Nonsense_Mutation_p.G129*	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	295	MPN.						metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAACCTGTGGAATACTCTG	0.333												
MUC5B	727897	broad.mit.edu	37	11	1266158	1266158	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:1266158C>G	uc001lta.3	+	30	8107	c.8048C>G	c.(8047-8049)aCc>aGc	p.T2683S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2683	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		AGCACACAGACCAGTGGTACT	0.622												
IGSF22	283284	broad.mit.edu	37	11	18731138	18731138	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:18731138G>A	uc009yht.2	-	17	2984	c.2794C>T	c.(2794-2796)Ccc>Tcc	p.P932S	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	831										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TAGCCAGAGGGTGGGTCTCCC	0.582												
SLC2A14	144195	broad.mit.edu	37	12	7980153	7980153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:7980153G>A	uc010sgh.2	-	5	937	c.916C>T	c.(916-918)Cga>Tga	p.R306*	SLC2A14_uc001qtk.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qtl.3_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.3_Nonsense_Mutation_p.R268*|SLC2A14_uc010sgg.2_Nonsense_Mutation_p.R182*|SLC2A14_uc001qtn.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	291					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATGGGCTGTCGGTAGCTGGAC	0.478												
SLC2A3	6515	broad.mit.edu	37	12	8082342	8082342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:8082342G>A	uc001qtr.3	-	5	1061	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	267					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATGGGCTGTCGGTAGCTGGAC	0.473												
IGF1	3479	broad.mit.edu	37	12	102813354	102813354	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:102813354A>G	uc001tjp.4	-	2	554	c.335T>C	c.(334-336)cTc>cCc	p.L112P	IGF1_uc001tjn.2_Missense_Mutation_p.L96P|IGF1_uc001tjm.2_Missense_Mutation_p.L112P|IGF1_uc001tjo.2_Missense_Mutation_p.L112P	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	112	D.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GGCAGGCTTGAGGGGTGCGCA	0.617												
RASAL1	8437	broad.mit.edu	37	12	113565893	113565893	+	Nonsense_Mutation	SNP	G	G	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:113565893G>C	uc001tun.2	-	3	514	c.213C>G	c.(211-213)taC>taG	p.Y71*	RASAL1_uc010syp.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tul.3_Nonsense_Mutation_p.Y71*|RASAL1_uc001tum.2_Nonsense_Mutation_p.Y71*|RASAL1_uc010syq.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.Y71*|RASAL1_uc010syr.2_Nonsense_Mutation_p.Y71*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	71	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCCAGCACGTAGAAGGCCA	0.607												
RB1	5925	broad.mit.edu	37	13	49033844	49033844	+	Missense_Mutation	SNP	C	C	T	rs121913299		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr13:49033844C>T	uc001vcb.3	+	19	2147	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	661	Domain B.|Pocket; binds T and E1A.		R -> W (in RB; mild form).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R661W(6)|p.L660fs*2(6)|p.R661fs*1(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCCTATCTCCGGCTAAATAC	0.383		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
OR10G2	26534	broad.mit.edu	37	14	22102746	22102746	+	Missense_Mutation	SNP	G	G	A	rs141025992	byFrequency	TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:22102746G>A	uc010tmc.2	-	0	253	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	85			R -> L (in dbSNP:rs41314525).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAAATAAGCCGAGGAACGGTG	0.527												
EAPP	55837	broad.mit.edu	37	14	35005432	35005432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:35005432G>A	uc001wsd.1	-	1	233	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	42					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATGAGTTTTCGTTTTTGGTCA	0.318												
C14orf49	161176	broad.mit.edu	37	14	95899695	95899695	+	Missense_Mutation	SNP	G	G	A	rs141951711		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:95899695G>A	uc001yei.4	-	14	2605	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	C14orf49_uc010avi.3_Missense_Mutation_p.R859C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	864			R -> H (in dbSNP:rs17092216).		cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGCCCGAGACGAAGGAGGTTC	0.597												
abParts	0	broad.mit.edu	37	15	22440742	22440742	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr15:22440742G>T	uc001yuj.2	-											Parts of antibodies, mostly variable regions.																		CAGTCTTGGTGTTGGCAGCTG	0.562												
ARIH1	25820	broad.mit.edu	37	15	72767077	72767077	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr15:72767077G>A	uc002aut.4	+	0	411	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	33	Asp/Glu-rich (acidic).				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						cgaagacgacgacgaGCCGGA	0.682												
ACSM2A	123876	broad.mit.edu	37	16	20492162	20492162	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:20492162G>A	uc010bwe.3	+	12	1667	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.4_Silent_p.S476S|ACSM2A_uc002dhg.4_Silent_p.S476S|ACSM2A_uc010vay.2_Silent_p.S397S|ACSM2A_uc002dhh.4_Silent_p.S106S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567												
HS3ST4	9951	broad.mit.edu	37	16	26147419	26147419	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:26147419G>A	uc002dof.3	+	1	1613	c.1221G>A	c.(1219-1221)agG>agA	p.R407R		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	407					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTGCCCCGAGGTGCTTAGGCA	0.473												
SEZ6L2	26470	broad.mit.edu	37	16	29897033	29897033	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:29897033C>T	uc010vec.2	-	7	1491	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.4_Missense_Mutation_p.V346M|SEZ6L2_uc002duq.4_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.2_Missense_Mutation_p.V372M|SEZ6L2_uc002dus.4_Missense_Mutation_p.V302M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	416	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATAGATCACGGGGGATAGG	0.612												
LONP2	83752	broad.mit.edu	37	16	48303999	48303999	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:48303999G>A	uc002efi.1	+	6	1144	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R308K	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	352					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGAAGAAAAGAGTACTGGAA	0.443												
PMFBP1	83449	broad.mit.edu	37	16	72184650	72184650	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:72184650C>T	uc002fcc.4	-	4	665	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	PMFBP1_uc002fcd.3_Missense_Mutation_p.A165T|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A20T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	165										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGGCCAAGGCGAGTTGCTCC	0.493												
TP53	7157	broad.mit.edu	37	17	7578440	7578440	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:7578440T>C	uc002gim.2	-	4	684	c.490A>G	c.(490-492)Aag>Gag	p.K164E	TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.3_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.2_Missense_Mutation_p.K125E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	164	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(112)|p.K164E(28)|p.K164*(22)|p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163*(7)|p.K164N(6)|p.Y163S(5)|p.K164M(4)|p.K164Q(4)|p.K164fs*6(4)|p.K164fs*3(4)|p.Y163fs*1(3)|p.Y163Y(3)|p.Y163D(3)|p.K164fs*5(3)|p.V157_C176del20(2)|p.Y163_Q165delYKQ(2)|p.P151_V173del23(2)|p.Y163fs*7(2)|p.K164T(2)|p.K164fs*17(2)|p.K164K(2)|p.Y163fs*14(2)|p.A159_Q167delAMAIYKQSQ(2)|p.I162_Y163>N(1)|p.K164_P219del(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.I162_Y163delIY(1)|p.K71E(1)|p.K164R(1)|p.K32E(1)|p.Y163fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTGACTGCTTGTAGATGGCC	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYOCD	93649	broad.mit.edu	37	17	12655804	12655804	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:12655804G>A	uc002gno.2	+	9	1498	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	MYOCD_uc002gnn.2_Missense_Mutation_p.R400Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R304Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R119Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	400	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCATGGACCGGCTTCGACCC	0.507												
KRT12	3859	broad.mit.edu	37	17	39019850	39019850	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:39019850G>A	uc002hvk.2	-	4	1006	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	328	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCTCCTTACGGAGCTCCCCG	0.567												
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308												
COL1A1	1277	broad.mit.edu	37	17	48275131	48275131	+	Nonsense_Mutation	SNP	G	G	A	rs72667036		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:48275131G>A	uc002iqm.3	-	8	784	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	220	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.R220*(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGACCTCGGGGACCCATG	0.507			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta					
ABCA6	23460	broad.mit.edu	37	17	67098976	67098976	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:67098976C>A	uc002jhw.1	-	21	3049	c.2874_splice	c.e21+1	p.K958_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	958					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)					GCAAACATACCTTTTGTTTAC	0.313												
SDK2	54549	broad.mit.edu	37	17	71426663	71426663	+	Nonsense_Mutation	SNP	G	G	A	rs147877604		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:71426663G>A	uc010dfm.3	-	11	1570	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	SDK2_uc010dfn.2_Nonsense_Mutation_p.R203*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	524	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGGTTACTCGGGGGTCGTGG	0.602												
CELF4	56853	broad.mit.edu	37	18	34853005	34853005	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr18:34853005G>A	uc002lae.2	-	6	1319	c.923C>T	c.(922-924)gCg>gTg	p.A308V	CELF4_uc021uix.1_Missense_Mutation_p.A306V|CELF4_uc021uiy.1_Missense_Mutation_p.A307V|CELF4_uc002lag.2_Missense_Mutation_p.A298V|CELF4_uc002laf.2_Missense_Mutation_p.A303V|CELF4_uc002lai.2_Missense_Mutation_p.A293V|CELF4_uc002lah.2_Missense_Mutation_p.A33V|CELF4_uc002laj.1_Silent_p.G143G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	308	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A308V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGTGCGGCCGCCAGGCCATT	0.652												
MUC16	94025	broad.mit.edu	37	19	9067037	9067037	+	Silent	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:9067037A>G	uc002mkp.3	-	2	20613	c.20409T>C	c.(20407-20409)tcT>tcC	p.S6803S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6805	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						GCATCAGGGAAGAGGAGAAGC	0.473												
GLT25D1	79709	broad.mit.edu	37	19	17679388	17679388	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:17679388C>T	uc002nhc.1	+	4	707	c.695C>T	c.(694-696)cCc>cTc	p.P232L	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	232					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						TTTGCAGTTCCCATGGTGCAC	0.617												
RSPH6A	81492	broad.mit.edu	37	19	46318327	46318327	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:46318327C>T	uc002pdm.3	-	0	279	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	36						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCCGCTGCCAGGGCCTGAG	0.687												
SHANK1	50944	broad.mit.edu	37	19	51205808	51205808	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51205808G>A	uc002psx.1	-	10	1682	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	555	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGCGTCCGGGTACCGCTGAG	0.697												
GPR32	2854	broad.mit.edu	37	19	51274077	51274077	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51274077C>T	uc010ycf.2	+	0	220	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	74						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTATGGCACGCACGGTCTC	0.572												
TTYH1	57348	broad.mit.edu	37	19	54947301	54947304	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:54947301_54947304delTCTA	uc002qfr.3	+	11	1421_1424	c.1299_1302delTCTA	c.(1297-1302)cgtctafs	p.R433fs	TTYH1_uc010yey.2_3'UTR|TTYH1_uc002qfq.3_Frame_Shift_Del_p.S449fs|TTYH1_uc002qft.3_Frame_Shift_Del_p.S450fs	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	0	Poly-Asp.				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGGCAGTCGTCTATCTGAGCCCC	0.642												
SBK2	646643	broad.mit.edu	37	19	56047417	56047417	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:56047417C>T	uc010ygc.2	-	1	260	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	82	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCTTTCTGACGATGGGTGAC	0.682												
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr2:97869931A>T	uc010yva.2	+	49	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289												
MCM6	4175	broad.mit.edu	37	2	136630288	136630288	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr2:136630288G>C	uc002tuw.3	-	1	309	c.233C>G	c.(232-234)aCc>aGc	p.T78S		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	78					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTCTTGAATGGTGGTGGAAAG	0.413												
HCK	3055	broad.mit.edu	37	20	30672225	30672225	+	Silent	SNP	G	G	A	rs147876395		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr20:30672225G>A	uc002wxh.3	+	7	951	c.714G>A	c.(712-714)tcG>tcA	p.S238S	HCK_uc010gdy.3_Silent_p.S218S|HCK_uc021wbv.1_Silent_p.S217S|HCK_uc002wxi.3_Silent_p.S216S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	238	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S217S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAAACTGTCGGTGCCCTGCA	0.587												
RIMBP3	85376	broad.mit.edu	37	22	20458191	20458191	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:20458191G>A	uc002zsd.4	-	0	3596	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGCAGCTCACGCCCGCTGGGG	0.642												
CSF2RB	1439	broad.mit.edu	37	22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:37326752G>A	uc003aqa.4	+	7	1109	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	298					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)	GGAGGGGCTCGGCAGCCTCCA	0.647												
SCN10A	6336	broad.mit.edu	37	3	38755494	38755494	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38755494G>A	uc003ciq.3	-	20	3759	c.3759C>T	c.(3757-3759)cgC>cgT	p.R1253R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1253					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCGCAGAGCGCGAAGGGTTC	0.527												
SCN11A	11280	broad.mit.edu	37	3	38913127	38913128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38913127_38913128insC	uc021wvy.1	-	20	3766_3767	c.3567_3568insG	c.(3565-3570)tggctcfs	p.W1189fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1189					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAATACGAGCCAGAAAATGA	0.361												
GNB4	59345	broad.mit.edu	37	3	179137188	179137189	+	Frame_Shift_Ins	INS	-	-	G	rs35612039		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:179137188_179137189insG	uc003fjv.4	-	4	483	c.203_splice	c.e4+1	p.R68_splice	GNB4_uc003fju.4_5'Flank	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	68					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GGTACAAACCTGGAATCGTATC	0.361												
ETV5	2119	broad.mit.edu	37	3	185823619	185823619	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:185823619G>A	uc003fpy.3	-	1	230	c.165C>T	c.(163-165)gtC>gtT	p.V55V	ETV5_uc003fpz.3_Silent_p.V13V	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	13					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TTACCCCTGGGACCATAAAAG	0.453			T	"""TMPRSS2, SCL45A3"""	Prostate							
TACC3	10460	broad.mit.edu	37	4	1725208	1725208	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:1725208C>T	uc003gdo.3	+	1	215	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TMEM129_uc003gdn.3_5'Flank|TMEM129_uc003gdm.3_5'Flank|TACC3_uc010ibz.3_Silent_p.C20C|TACC3_uc003gdp.3_Silent_p.C20C	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	20						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGAAAATTGCGACTTCCTGT	0.433												
TBC1D9	23158	broad.mit.edu	37	4	141580777	141580777	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:141580777C>T	uc010ioj.3	-	10	2158	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	629	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGGAGCATGCGCTCACACAA	0.448												
GRIA2	2891	broad.mit.edu	37	4	158284178	158284178	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:158284178C>T	uc003ipm.4	+	14	3093	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	GRIA2_uc011cit.2_Silent_p.I831I|GRIA2_uc003ipl.4_Silent_p.I878I|GRIA2_uc003ipk.4_Silent_p.I831I|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	878					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I878I(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATATGGCATCGAAAGTGTTA	0.378												
DNAH5	1767	broad.mit.edu	37	5	13753418	13753418	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:13753418C>G	uc003jfd.2	-	62	10838	c.10796G>C	c.(10795-10797)cGt>cCt	p.R3599P	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3599	AAA 5 (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)					CAAAGGGTAACGAGATGCCTT	0.368									Kartagener syndrome			
DROSHA	29102	broad.mit.edu	37	5	31468080	31468080	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:31468080G>A	uc003jhg.2	-	16	2691	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	DROSHA_uc003jhh.2_Missense_Mutation_p.R741C|DROSHA_uc003jhi.2_Missense_Mutation_p.R741C	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	778	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						TGTGCAGGGCGTATCCCAAAG	0.438												
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468												
GRAMD3	65983	broad.mit.edu	37	5	125821443	125821443	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:125821443A>T	uc011cwt.2	+	10	1317	c.1081A>T	c.(1081-1083)Att>Ttt	p.I361F	GRAMD3_uc003ktu.3_Missense_Mutation_p.I346F|GRAMD3_uc011cwv.2_Missense_Mutation_p.I354F|GRAMD3_uc011cww.2_Missense_Mutation_p.I242F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.I237F|GRAMD3_uc011cwz.2_Missense_Mutation_p.I330F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	346										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GCTTCACCATATTCTTATATT	0.348												
PCDHAC2	56139	broad.mit.edu	37	5	140236992	140236992	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140236992G>A	uc003lhx.2	+	0	1359	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.A453A|PCDHAC2_uc011dad.2_Silent_p.A453A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A453A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGT	0.677												
PCDHB2	56133	broad.mit.edu	37	5	140475875	140475875	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140475875C>A	uc003lil.3	+	0	1639	c.1501C>A	c.(1501-1503)Ccc>Acc	p.P501T	PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCACCTGCCCCTCGCCTC	0.692												
GPR116	221395	broad.mit.edu	37	6	46856078	46856078	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:46856078T>C	uc003oyo.3	-	3	611	c.322A>G	c.(322-324)Aca>Gca	p.T108A	GPR116_uc003oyp.3_Missense_Mutation_p.T108A|GPR116_uc003oyq.3_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCACCTGTTGTCACATTTATG	0.403												
HTR1E	3354	broad.mit.edu	37	6	87725312	87725312	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:87725312G>A	uc003pli.3	+	1	963	c.260G>A	c.(259-261)cGc>cAc	p.R87H	HTR1E_uc021zcg.1_Missense_Mutation_p.R87H	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTCATGGATCGCTGGAAGCTT	0.572												
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:131191073_131191075delCTG	uc003qch.2	-	14	2417_2419	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_uc003qce.1_In_Frame_Del_p.123_124SS>S|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_In_Frame_Del_p.675_676SS>S|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_In_Frame_Del_p.675_676SS>S|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_In_Frame_Del_p.142_143SS>S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562												
SDK1	221935	broad.mit.edu	37	7	4169639	4169639	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:4169639G>A	uc003smx.3	+	26	4178	c.4039G>A	c.(4039-4041)Gtg>Atg	p.V1347M	SDK1_uc010kso.3_Missense_Mutation_p.V623M|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1347	Fibronectin type-III 7.				cell adhesion	integral to membrane		p.V1347M(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGCAAGTTCGTGCTCTACGA	0.657												
SKAP2	8935	broad.mit.edu	37	7	26778465	26778465	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:26778465G>A	uc003syc.3	-	5	711	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R125W	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	140	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GCACACCACCGTTTCTGCCAT	0.328												
ZPBP	11055	broad.mit.edu	37	7	50097662	50097662	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:50097662A>G	uc003tou.3	-	3	480	c.410T>C	c.(409-411)aTt>aCt	p.I137T	ZPBP_uc010kyw.3_Missense_Mutation_p.I136T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	137					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ACATGTATAAATTCCACTCAT	0.333												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PTPN12	5782	broad.mit.edu	37	7	77256938	77256938	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:77256938A>G	uc003ugh.2	+	12	2033	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V	PTPN12_uc011kgp.1_Missense_Mutation_p.M529V|PTPN12_uc011kgq.1_Missense_Mutation_p.M518V|PTPN12_uc010lds.2_Missense_Mutation_p.M380V	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	648						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGTATTGCCAATGTCCATTGC	0.373												
PAX4	5078	broad.mit.edu	37	7	127254980	127254980	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:127254980C>T	uc010lld.1	-	1	496	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.3_Missense_Mutation_p.R95H	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	105	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAAAGCTGGCGTTGGATTTC	0.592												
PLXNA4	91584	broad.mit.edu	37	7	131872333	131872333	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:131872333C>T	uc003vra.4	-	14	3119	c.2890G>A	c.(2890-2892)Ggg>Agg	p.G964R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	964	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACATGGGCCCCCGGCTGGGC	0.587												
DENND2A	27147	broad.mit.edu	37	7	140301257	140301257	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:140301257G>A	uc010lnk.3	-	2	1461	c.941C>T	c.(940-942)tCc>tTc	p.S314F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S314F|DENND2A_uc003vvw.3_Missense_Mutation_p.S314F|DENND2A_uc003vvx.3_Missense_Mutation_p.S314F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	314										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTTCACagaggaaggtggggg	0.587												
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:131233667C>T	uc004bvc.3	+	5	779	c.693C>T	c.(691-693)caC>caT	p.H231H	ODF2_uc011maz.2_Silent_p.H167H|ODF2_uc011mba.2_Intron|ODF2_uc010myb.3_Silent_p.H143H|ODF2_uc011mbc.2_Silent_p.H86H|ODF2_uc022boj.1_Silent_p.H192H|ODF2_uc004bva.3_Silent_p.H211H|ODF2_uc004bvb.3_Silent_p.H143H|ODF2_uc011mbd.2_Silent_p.H167H|ODF2_uc011mbe.2_Silent_p.H162H|ODF2_uc010myc.3_Silent_p.H110H|ODF2_uc011mbf.2_Silent_p.H148H|ODF2_uc004bvd.4_Silent_p.H167H|ODF2_uc004bve.3_Silent_p.H148H	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	167					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577												
PRDM12	59335	broad.mit.edu	37	9	133540113	133540113	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540113G>A	uc004bzt.1	+	0	133	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACTGGCGCTGGCCGAGGTTAT	0.706												
PRDM12	59335	broad.mit.edu	37	9	133540124	133540124	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540124C>T	uc004bzt.1	+	0	144	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CCGAGGTTATCACCTCCGACA	0.687												
PPP1R26	9858	broad.mit.edu	37	9	138379880	138379880	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:138379880G>C	uc022bpi.1	+	0	3524	c.3524G>C	c.(3523-3525)aGg>aCg	p.R1175T	PPP1R26_uc004cfr.1_Missense_Mutation_p.R1175T	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	1175						nucleolus	protein binding										TATCGACGAAGGGTCAACAGG	0.607												
KLHL4	56062	broad.mit.edu	37	X	86887278	86887278	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:86887278C>A	uc004efa.2	+	6	1575	c.1393C>A	c.(1393-1395)Cgt>Agt	p.R465S	KLHL4_uc004efb.2_Missense_Mutation_p.R465S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	465						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R465H(1)		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						CATGAATGGCCGTAGGCTTCA	0.393												
MAGEC2	51438	broad.mit.edu	37	X	141291741	141291741	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:141291741G>T	uc022cfj.1	-	0	33	c.33C>A	c.(31-33)aaC>aaA	p.N11K	MAGEC2_uc004fbu.2_Missense_Mutation_p.N11K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	11						cytoplasm|nucleus		p.N11K(2)		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)					CGTTGTCAACGTTGCGGAATG	0.537										HNSCC(46;0.14)		
CD99L2	83692	broad.mit.edu	37	X	149963729	149963729	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:149963729T>C	uc004fek.3	-	5	620	c.392A>G	c.(391-393)gAt>gGt	p.D131G	CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.D127G|CD99L2_uc004fem.3_Missense_Mutation_p.D78G|CD99L2_uc004fen.3_Missense_Mutation_p.D55G	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	127					cell adhesion	cell junction|integral to membrane		p.R131Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTCGATCATCCAGGGC	0.448												
