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
CROCC	9696	broad.mit.edu	37	1	17280823	17280823	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr1:17280823G>C	uc001azt.2	+	22	3361	c.3292G>C	c.(3292-3294)GAT>CAT	p.D1098H	CROCC_uc009voz.1_Missense_Mutation_p.D697H|CROCC_uc001azu.2_Missense_Mutation_p.D401H	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1098	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAACGAGATGCCCAGAG	0.632000												
OR6N1	128372	broad.mit.edu	37	1	158735615	158735615	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr1:158735615G>T	uc010piq.1	-	1	858	c.858C>A	c.(856-858)AAC>AAA	p.N286K		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGATGAAGGGGTTGAGGAAGG	0.527000												
PIGM	93183	broad.mit.edu	37	1	160001391	160001391	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr1:160001391A>G	uc001fuv.1	-	1	393	c.139T>C	c.(139-141)TAT>CAT	p.Y47H		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	47	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCCGTATACCTCACGTGC	0.622000												
KNDC1	85442	broad.mit.edu	37	10	135000076	135000076	+	Silent	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr10:135000076C>T	uc001llz.1	+	6	1225	c.1224C>T	c.(1222-1224)GCC>GCT	p.A408A	KNDC1_uc001lma.1_Silent_p.A343A	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	408					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGCAGAGGCCCCTGCAGACC	0.672000												
OR52N4	390072	broad.mit.edu	37	11	5776432	5776432	+	Silent	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr11:5776432G>A	uc001mbu.2	+	1	510	c.462G>A	c.(460-462)GGG>GGA	p.G154G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TCCTGAGAGGGGTATTACTCA	0.493000												
CCDC34	91057	broad.mit.edu	37	11	27360462	27360462	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr11:27360462G>T	uc001mrh.1	-	6	1082	c.1028C>A	c.(1027-1029)CCT>CAT	p.P343H		NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34 isoform 1	343											0						ACTTATCACAGGTCTTTTACT	0.418000												
PICALM	8301	broad.mit.edu	37	11	85714475	85714475	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr11:85714475T>C	uc001pbm.2	-	9	1113	c.827A>G	c.(826-828)GAT>GGT	p.D276G	PICALM_uc001pbl.2_Missense_Mutation_p.D276G|PICALM_uc001pbn.2_Missense_Mutation_p.D276G|PICALM_uc010rtl.1_Missense_Mutation_p.D225G|PICALM_uc010rtk.1_5'UTR|PICALM_uc001pbo.1_5'UTR	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	276					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTCCAAAGCATCAAGAAGACT	0.368000			T	MLLT10|MLL	TALL|AML|							
KSR2	283455	broad.mit.edu	37	12	118198881	118198881	+	Silent	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr12:118198881C>T	uc001two.2	-	4	889	c.834G>A	c.(832-834)GCG>GCA	p.A278A		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	307					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGATGCAGCGCGGTGAATC	0.662000												
TUBGCP3	10426	broad.mit.edu	37	13	113176722	113176722	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr13:113176722A>G	uc001vse.1	-	14	1844	c.1657T>C	c.(1657-1659)TAC>CAC	p.Y553H	TUBGCP3_uc010tjq.1_Missense_Mutation_p.Y543H|TUBGCP3_uc001vsf.2_Missense_Mutation_p.Y553H	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	553					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	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)					AGCAAGCTGTACTTTTTATTG	0.428000												
MCF2L	23263	broad.mit.edu	37	13	113742712	113742712	+	Silent	SNP	T	T	C			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr13:113742712T>C	uc001vsu.2	+	24	2953	c.2931T>C	c.(2929-2931)GCT>GCC	p.A977A	MCF2L_uc001vsq.2_Silent_p.A977A|MCF2L_uc010tjr.1_Silent_p.A920A|MCF2L_uc001vsr.2_Silent_p.A924A|MCF2L_uc001vss.3_Silent_p.A918A|MCF2L_uc010tjs.1_Silent_p.A918A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	950					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCTGCAGGCTTGTAGAGGTG	0.547000												
GABRB3	2562	broad.mit.edu	37	15	26866506	26866506	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:26866506C>T	uc001zaz.2	-	4	558	c.416G>A	c.(415-417)CGC>CAC	p.R139H	GABRB3_uc010uae.1_Missense_Mutation_p.R54H|GABRB3_uc001zba.2_Missense_Mutation_p.R139H|GABRB3_uc001zbb.2_Missense_Mutation_p.R195H|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	139	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACGGATCATGCGGTTTTTCAC	0.488000												
OTUD7A	161725	broad.mit.edu	37	15	31818561	31818561	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:31818561G>A	uc001zfq.2	-	6	956	c.863C>T	c.(862-864)ACG>ATG	p.T288M	OTUD7A_uc001zfr.2_Missense_Mutation_p.T295M	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	288	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCCCCGCCCGTGCCGCCATT	0.672000												
TTBK2	146057	broad.mit.edu	37	15	43102862	43102862	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:43102862A>G	uc001zqo.2	-	9	1211	c.772T>C	c.(772-774)TTT>CTT	p.F258L	TTBK2_uc010bcy.2_Missense_Mutation_p.F189L|TTBK2_uc001zqp.2_Missense_Mutation_p.F258L|TTBK2_uc010bcz.1_Missense_Mutation_p.F223L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	258	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGGTCTAGAAAGATGCTGAAT	0.393000												
FBN1	2200	broad.mit.edu	37	15	48787704	48787704	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:48787704G>T	uc001zwx.1	-	21	2829	c.2501C>A	c.(2500-2502)TCT>TAT	p.S834Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	834	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTACTTTCAGAAGAACATTC	0.348000												
AGBL1	123624	broad.mit.edu	37	15	86697783	86697783	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr15:86697783G>T	uc002blz.1	+	3	327	c.247G>T	c.(247-249)GCC>TCC	p.A83S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	83					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						GCGTGTGTTTGCCTCCAGTGG	0.522000												
CDH1	999	broad.mit.edu	37	16	68847277	68847277	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr16:68847277A>T	uc002ewg.1	+	9	1323	c.1199A>T	c.(1198-1200)GAT>GTT	p.D400V	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	400	Cadherin 3.|Extracellular (Potential).		Missing (in a gastric carcinoma sample; loss of heterozygosity).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)|p.T399fs*17(3)|p.D400del(1)|p.D400Y(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AAAGTGACTGATGCTGATGCC	0.473000			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)		
KSR1	8844	broad.mit.edu	37	17	25936339	25936339	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr17:25936339G>A	uc010crg.2	+	17	2309	c.1864G>A	c.(1864-1866)GTG>ATG	p.V622M	KSR1_uc002gzm.2_Missense_Mutation_p.V401M|KSR1_uc002gzn.2_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	757	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATCTCAGGCGTGGTCCGAGA	0.542000												
EPB41L3	23136	broad.mit.edu	37	18	5438045	5438045	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr18:5438045T>A	uc002kmt.1	-	6	680	c.594A>T	c.(592-594)GAA>GAT	p.E198D	EPB41L3_uc010wzh.1_Missense_Mutation_p.E198D|EPB41L3_uc002kmu.1_Missense_Mutation_p.E198D|EPB41L3_uc010dkq.1_Missense_Mutation_p.E89D|EPB41L3_uc010dks.1_Missense_Mutation_p.E220D|EPB41L3_uc002kmv.1_Missense_Mutation_p.E89D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	198	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TGGTGATATCTTCAGATAGTT	0.408000												
C3	718	broad.mit.edu	37	19	6710823	6710823	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:6710823G>A	uc002mfm.2	-	13	1575	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	505					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGCACCTGGCGTCCCGCCTTC	0.652000												
INSR	3643	broad.mit.edu	37	19	7132258	7132258	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:7132258G>A	uc002mgd.1	-	14	2862	c.2753C>T	c.(2752-2754)CCG>CTG	p.P918L	INSR_uc002mge.1_Missense_Mutation_p.P906L	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	918	Fibronectin type-III 3.|Extracellular (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTAGTTCCCCGGTGACAGCCC	0.607000												
COL5A3	50509	broad.mit.edu	37	19	10100039	10100039	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:10100039G>T	uc002mmq.1	-	26	2136	c.2050C>A	c.(2050-2052)CAC>AAC	p.H684N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	684	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TGTCCTGGGTGACCCTGGGGA	0.582000												
ZNF257	113835	broad.mit.edu	37	19	22271685	22271685	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:22271685G>C	uc010ecx.2	+	4	1302	c.1133G>C	c.(1132-1134)GGA>GCA	p.G378A	ZNF257_uc010ecy.2_Missense_Mutation_p.G346A	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	378	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGAGTGTGGAAAAGCCTTT	0.373000												
TSKS	60385	broad.mit.edu	37	19	50249743	50249743	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:50249743C>T	uc002ppm.2	-	6	987	c.976G>A	c.(976-978)GGC>AGC	p.G326S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	326							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCTTCGATGCCGGTGAACAGC	0.697000												
AURKC	6795	broad.mit.edu	37	19	57746374	57746374	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr19:57746374A>T	uc002qoe.2	+	6	896	c.707A>T	c.(706-708)TAT>TTT	p.Y236F	AURKC_uc002qoc.2_Missense_Mutation_p.Y217F|AURKC_uc002qod.2_Missense_Mutation_p.Y202F|AURKC_uc010etv.2_Missense_Mutation_p.Y233F	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	236	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		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)		CTGGTGGGATATCCACCCTTT	0.527000												
WDR33	55339	broad.mit.edu	37	2	128477550	128477550	+	Silent	SNP	A	A	G			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:128477550A>G	uc002tpg.1	-	16	2232	c.2049T>C	c.(2047-2049)CCT>CCC	p.P683P		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	683	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAGGGCCATGAGGTCCAGGAT	0.632000												
CCDC141	285025	broad.mit.edu	37	2	179736940	179736940	+	Missense_Mutation	SNP	G	G	A	rs146458136		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:179736940G>A	uc002unf.1	-	3	331	c.274C>T	c.(274-276)CGG>TGG	p.R92W		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	92	Potential.						protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATGCCAGCCGAAGGAGGCTA	0.468000												
CTLA4	1493	broad.mit.edu	37	2	204735471	204735471	+	Missense_Mutation	SNP	T	T	C	rs1065442		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:204735471T>C	uc002vak.1	+	2	429	c.272T>C	c.(271-273)ATG>ACG	p.M91T	CTLA4_uc002val.1_Missense_Mutation_p.M91T|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	91	Ig-like V-type.|Extracellular (Potential).				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm					0					Abatacept(DB01281)	ACCTACATGATGGGGAATGAG	0.547000												
SLC16A14	151473	broad.mit.edu	37	2	230902153	230902153	+	Silent	SNP	C	C	T	rs111580291		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:230902153C>T	uc002vqd.1	-	5	1839	c.1476G>A	c.(1474-1476)CCG>CCA	p.P492P	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	492	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TTCGAATGCACGGCTGAATAA	0.328000												
C20orf177	63939	broad.mit.edu	37	20	58519694	58519694	+	Silent	SNP	C	C	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr20:58519694C>A	uc002yba.2	+	5	1111	c.696C>A	c.(694-696)TCC>TCA	p.S232S	C20orf177_uc010zzx.1_Silent_p.S75S|C20orf177_uc002ybc.2_Silent_p.S232S	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	232										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)			GTGCTCTGTCCAAGCCACTAC	0.522000												
PRPF6	24148	broad.mit.edu	37	20	62658497	62658497	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr20:62658497G>A	uc002yho.2	+	16	2359	c.2191G>A	c.(2191-2193)GCC>ACC	p.A731T	PRPF6_uc002yhp.2_Missense_Mutation_p.A691T	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	731	HAT 8.				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGCGCGGGAAGCCTATAACCA	0.617000												
TIAM1	7074	broad.mit.edu	37	21	32493037	32493037	+	Silent	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr21:32493037G>A	uc002yow.1	-	29	4897	c.4425C>T	c.(4423-4425)CCC>CCT	p.P1475P	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.P1415P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1475					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			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCCCACCACCGGGGGGCTGCT	0.572000												
SFRS15	57466	broad.mit.edu	37	21	33044158	33044158	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr21:33044158A>C	uc002ypd.2	-	20	3424	c.2998T>G	c.(2998-3000)TTT>GTT	p.F1000V	SFRS15_uc002ype.2_Missense_Mutation_p.F978V|SFRS15_uc010glu.2_Missense_Mutation_p.F985V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	1000						nucleus	nucleotide binding|RNA binding				0						CTTCTTCCAAACCTTTCTTGG	0.443000												
GTPBP1	9567	broad.mit.edu	37	22	39122390	39122390	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr22:39122390G>A	uc003awg.2	+	8	1500	c.1346G>A	c.(1345-1347)CGC>CAC	p.R449H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	449					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					CATCGCAAGCGCATGCCTGTC	0.552000												
CAND2	23066	broad.mit.edu	37	3	12858630	12858630	+	Silent	SNP	T	T	C			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:12858630T>C	uc003bxk.2	+	10	2248	c.2199T>C	c.(2197-2199)AGT>AGC	p.S733S	CAND2_uc003bxj.2_Silent_p.S640S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	733	HEAT 16.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGGAGGTCAGTGGCCCTGTGC	0.652000												
ITIH3	3699	broad.mit.edu	37	3	52837878	52837878	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:52837878G>A	uc003dfv.2	+	14	1753	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	573					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGCAAGAACGCCCATGGCGA	0.627000												
PLXNA1	5361	broad.mit.edu	37	3	126724992	126724992	+	Silent	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:126724992C>T	uc003ejg.2	+	7	1903	c.1899C>T	c.(1897-1899)TTC>TTT	p.F633F		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	656	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTGTGGACTTCGTCTTCTACA	0.607000												
GHSR	2693	broad.mit.edu	37	3	172165804	172165804	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:172165804T>A	uc003fib.1	-	1	400	c.400A>T	c.(400-402)ATC>TTC	p.I134F	GHSR_uc011bpv.1_Missense_Mutation_p.I134F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	134	Helical; Name=3; (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCGCTGTGATGGTGAGCACC	0.612000												
PSMD2	5708	broad.mit.edu	37	3	184024196	184024196	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr3:184024196C>G	uc003fnn.1	+	15	1896	c.1863C>G	c.(1861-1863)GAC>GAG	p.D621E	PSMD2_uc011brj.1_Missense_Mutation_p.D462E|PSMD2_uc011brk.1_Missense_Mutation_p.D491E	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	621					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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AACACTTTGACTCCaaagaga	0.383000												
MAST4	375449	broad.mit.edu	37	5	66429354	66429354	+	Silent	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:66429354C>T	uc003jut.1	+	16	1607	c.1539C>T	c.(1537-1539)ACC>ACT	p.T513T	MAST4_uc003juu.1_Silent_p.T523T|MAST4_uc011cra.1_Silent_p.T496T|MAST4_uc003juv.2_Silent_p.T508T|MAST4_uc003juw.2_Silent_p.T508T	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	705	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGTTGGTTACCTCCATGGGGC	0.418000												
PCDHA11	56138	broad.mit.edu	37	5	140249981	140249981	+	Silent	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:140249981G>A	uc003lia.2	+	1	2151	c.1293G>A	c.(1291-1293)TCG>TCA	p.S431S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S431S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	431	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622000												
PCDHA11	56138	broad.mit.edu	37	5	140250857	140250857	+	Silent	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:140250857G>A	uc003lia.2	+	1	3027	c.2169G>A	c.(2167-2169)TCG>TCA	p.S723S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S723S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	723	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGTGGTCGGCAACGCCCA	0.672000												
MXD3	83463	broad.mit.edu	37	5	176734800	176734800	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr5:176734800G>A	uc003mgb.2	-	5	948	c.487C>T	c.(487-489)CGC>TGC	p.R163C	MXD3_uc010jkk.2_Missense_Mutation_p.R163C|MXD3_uc003mga.3_Missense_Mutation_p.R163C|MXD3_uc003mgc.2_Missense_Mutation_p.R153C	NM_031300	NP_112590	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3 isoform a	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTCTGAGCGCTCAGAGGAG	0.721000												
MBOAT1	154141	broad.mit.edu	37	6	20113188	20113188	+	Silent	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr6:20113188C>T	uc003ncx.1	-	11	1333	c.1128G>A	c.(1126-1128)CTG>CTA	p.L376L	MBOAT1_uc011dji.1_Silent_p.L227L	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	376	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ACAAAGCAGACAGGATGAAGG	0.468000												
OPN5	221391	broad.mit.edu	37	6	47776100	47776100	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr6:47776100G>T	uc003ozc.2	+	5	972	c.967G>T	c.(967-969)GCA>TCA	p.A323S	OPN5_uc003ozd.2_Missense_Mutation_p.A158S	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	opsin 5 isoform 1	323	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1						TGGTTTGAAAGCAACCAAGAA	0.418000												
WRN	7486	broad.mit.edu	37	8	31014945	31014945	+	Missense_Mutation	SNP	C	C	T	rs146861737		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr8:31014945C>T	uc003xio.3	+	33	4669	c.3881C>T	c.(3880-3882)GCG>GTG	p.A1294V	WRN_uc010lvk.2_Missense_Mutation_p.A761V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1294					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			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTATCCCAAGCGGTGAAAGCT	0.488000			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:21971111G>A	uc003zpk.2	-	2	459	c.247C>T	c.(247-249)CAC>TAC	p.H83Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.A138V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	83	ANK 3.		H -> N (in a lung tumor).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.H83Y(28)|p.?(13)|p.H83fs*2(2)|p.H83P(2)|p.H83N(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.A138V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.H83R(1)|p.H83Q(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(JHH2_LIVER)|H83Y(HS944T_SKIN)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
LINGO2	158038	broad.mit.edu	37	9	27949698	27949698	+	Silent	SNP	G	G	A	rs138682295		TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:27949698G>A	uc003zqu.1	-	2	1166	c.972C>T	c.(970-972)CGC>CGT	p.R324R	LINGO2_uc010mjf.1_Silent_p.R324R|LINGO2_uc003zqv.1_Silent_p.R324R	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	324	Extracellular (Potential).|LRR 12.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CATTGAGCACGCGTAGGAAGC	0.542000												
NOL8	55035	broad.mit.edu	37	9	95073453	95073453	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:95073453C>G	uc004arv.2	-	8	2784	c.2447G>C	c.(2446-2448)AGC>ACC	p.S816T	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.S48T|NOL8_uc011ltw.1_Missense_Mutation_p.S748T	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	816					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TCCTGGATGGCTCTGCTCCTG	0.488000												
OR1J4	26219	broad.mit.edu	37	9	125281714	125281714	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr9:125281714A>C	uc011lyw.1	+	1	295	c.295A>C	c.(295-297)ACT>CCT	p.T99P		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGGGTGTGTAACTCAGATGTA	0.423000												
SSX1	6756	broad.mit.edu	37	X	48116745	48116745	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chrX:48116745G>T	uc004djb.1	+	2	160	c.69G>T	c.(67-69)AAG>AAT	p.K23N		NM_005635	NP_005626	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)	soft_tissue(1169)	1169						AGAGAAGCAAGGTGACGTGAC	0.562000												
SERPINA7	6906	broad.mit.edu	37	X	105279201	105279201	+	Silent	SNP	C	C	T			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chrX:105279201C>T	uc004eme.1	-	2	814	c.798G>A	c.(796-798)CTG>CTA	p.L266L	SERPINA7_uc010npd.2_Silent_p.L266L|SERPINA7_uc010npe.1_Silent_p.L266L	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	266					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)	CAAAGAGTGCCAGAGCATTCT	0.463000												
MAGEC1	9947	broad.mit.edu	37	X	140995215	140995215	+	Silent	SNP	T	T	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chrX:140995215T>A	uc004fbt.2	+	4	2311	c.2025T>A	c.(2023-2025)CCT>CCA	p.P675P	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	675							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATCTCCTCTCCAGAGTC	0.572000										HNSCC(15;0.026)		
DUSP19	142679	broad.mit.edu	37	2	183948285	183948286	+	Splice_Site	INS	-	-	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:183948284_183948285T>TA	uc002upd.3	+	2	648	c.273_splice	c.e2+2	p.K91_splice	DUSP19_uc010frp.3_Splice_Site_p.K91_splice|DUSP19_uc010zfr.2_Intron|DUSP19_uc002upe.3_Splice_Site_p.K91_splice	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA.	91					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AAGAATAAGGTAAAAAAATGCT	0.302												
SMAD4	4089	broad.mit.edu	37	18	48591917	48591931	+	In_Frame_Del	DEL	TCGCTTTTGTTTGGG	TCGCTTTTGTTTGGG	-	rs80338963	byFrequency	TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr18:48591917_48591931delTCGCTTTTGTTTGGG	uc010xdp.1	+	9	1618_1632	c.1080_1094delTCGCTTTTGTTTGGG	c.(1078-1095)GATCGCTTTTGTTTGGGT>GAT	p.RFCLG361del	SMAD4_uc002lfb.3_In_Frame_Del_p.RFCLG206del	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361_365	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.F362fs*2(1)|p.R361S(1)|p.C363R(1)|p.C363S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCC	0.409									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
DUSP19	142679	broad.mit.edu	37	2	183948285	183948286	+	Splice_Site	INS	-	-	A			TCGA-CD-5799-01A-11D-1600-08	TCGA-CD-5799-10A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb59b79f-bd36-4bf4-83e3-2af73bd1d30a	14228088-eadd-469e-890d-586176daf99f	g.chr2:183948284_183948285T>TA	uc002upd.3	+	2	648	c.273_splice	c.e2+2	p.K91_splice	DUSP19_uc010frp.3_Splice_Site_p.K91_splice|DUSP19_uc010zfr.2_Intron|DUSP19_uc002upe.3_Splice_Site_p.K91_splice	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	Homo sapiens dual specificity phosphatase 19 (DUSP19), transcript variant 1, mRNA.	91					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AAGAATAAGGTAAAAAAATGCT	0.302												
