Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ACOXL	55289	broad.mit.edu	37	2	111666434	111666434	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:111666434G>A	ENST00000389811.4	+	11	1081	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	ACOXL_ENST00000439055.1_Missense_Mutation_p.R286Q			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	286					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CAGACCCTGCGGCTGATGCCC	0.547000													35	52					0	0	0.00111076	0	0
RHBG	57127	broad.mit.edu	37	1	156351238	156351238	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:156351238G>A	ENST00000400992.2	+	5	1046	c.678G>A	c.(676-678)ctG>ctA	p.L226L	RHBG_ENST00000368249.1_Silent_p.L258L|RHBG_ENST00000537040.1_Silent_p.L96L|RHBG_ENST00000255013.3_Silent_p.L189L|RHBG_ENST00000451864.2_Silent_p.L226L|RHBG_ENST00000368246.2_Silent_p.L258L			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	258					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACTACTCCCTGGCTGCCAGCA	0.592000													28	42					0	0	0.000279167	0	0
KRT13	3860	broad.mit.edu	37	17	39661729	39661729	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:39661729C>T	ENST00000246635.3	-	1	120	c.74G>A	c.(73-75)gGa>gAa	p.G25E	KRT13_ENST00000587544.1_Missense_Mutation_p.G25E|KRT13_ENST00000336861.3_Missense_Mutation_p.G25E	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	25	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACCACGGCCTCCTCCCAGCTG	0.627000													15	30					0	0	0.00074312	0	0
HAL	3034	broad.mit.edu	37	12	96379885	96379885	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:96379885G>A	ENST00000261208.3	-	13	1473	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	HAL_ENST00000541929.1_Missense_Mutation_p.R161W|HAL_ENST00000538703.1_Missense_Mutation_p.R369W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	369					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAGAGTGACCGAAACCGAAAA	0.403000													22	32					0	0	0.000586117	0	0
PLCH1	23007	broad.mit.edu	37	3	155200465	155200465	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:155200465C>T	ENST00000460012.1	-	23	3617	c.3260G>A	c.(3259-3261)gGa>gAa	p.G1087E	PLCH1_ENST00000334686.6_Missense_Mutation_p.G1087E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1125E|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1087E|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1125					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAGGACGCTTCCTGACAAGAT	0.463000													13	59					0	0	0.000151284	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150810	132150810	+	Silent	SNP	G	G	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:132150810G>T	ENST00000378693.2	+	1	1778	c.1497G>T	c.(1495-1497)tcG>tcT	p.S499S		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	499																	TGAAGAAGTCGAGCTCCTTCA	0.587000													10	31					4.68919e-08	4.85372e-07	0.000673444	1	0
PPIAL4G	644591	broad.mit.edu	37	1	143767503	143767503	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:143767503T>G	ENST00000419275.1	-	1	378	c.346A>C	c.(346-348)Act>Cct	p.T116P		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	116	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTCTTGGCAGTGCAGATGAAA	0.473000													53	382					0	0	0.000781405	0	0
MSH6	2956	broad.mit.edu	37	2	48026038	48026038	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:48026038G>A	ENST00000234420.4	+	4	1068	c.916G>A	c.(916-918)Gga>Aga	p.G306R	MSH6_ENST00000540021.1_Missense_Mutation_p.G176R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.G4R	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	306					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGGTGACTGGAAATGGCTC	0.468000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				54	195					0	0	0.000781405	0	0
YTHDF2	51441	broad.mit.edu	37	1	29070135	29070135	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:29070135G>A	ENST00000373812.3	+	4	1715	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	YTHDF2_ENST00000541996.1_Silent_p.G401G|YTHDF2_ENST00000542507.1_Silent_p.G451G|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	451	YTH.				humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGAACGGGAAAGGCCCCG	0.468000													7	45					0	0	8.12818e-05	0	0
LACRT	90070	broad.mit.edu	37	12	55025612	55025612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55025612C>T	ENST00000257867.4	-	4	318	c.265G>A	c.(265-267)Gag>Aag	p.E89K	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	89					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ATACTTTTCTCCACTATGGAT	0.458000													32	97					0	0	0.000491102	0	0
MUC16	94025	broad.mit.edu	37	19	9006662	9006662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9006662C>T	ENST00000397910.4	-	44	39789	c.39586G>A	c.(39586-39588)Gag>Aag	p.E13196K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13198	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAACACTCTCCGTGATGTTG	0.527000													25	125					0	0	0.000720815	0	0
OR1S1	219959	broad.mit.edu	37	11	57982333	57982333	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:57982333C>T	ENST00000309433.6	+	1	117	c.117C>T	c.(115-117)ctC>ctT	p.L39L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATCAAAACCTCCTCTTTGTGC	0.453000													13	121					0	0	0.000151284	0	0
SMYD3	64754	broad.mit.edu	37	1	246498675	246498675	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:246498675G>A	ENST00000490107.1	-	3	369	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SMYD3_ENST00000541742.1_Silent_p.F51F|SMYD3_ENST00000403792.3_Silent_p.F110F|SMYD3_ENST00000388985.4_Silent_p.F110F	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	110						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TCACAAGTTTGAAGACAACTC	0.413000													39	75					0	0	0.000319135	0	0
JAG2	3714	broad.mit.edu	37	14	105612994	105612994	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:105612994A>C	ENST00000331782.3	-	21	2950	c.2547T>G	c.(2545-2547)taT>taG	p.Y849*	JAG2_ENST00000347004.2_Nonsense_Mutation_p.Y811*	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	849	EGF-like 16; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCTACAGCGATACCCGTTGA	0.677000													4	13					0	0	0.00024832	0	0
CACNB4	785	broad.mit.edu	37	2	152695708	152695708	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:152695708G>A	ENST00000360283.6	-	13	1646	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y	CACNB4_ENST00000534999.1_Silent_p.Y462Y|CACNB4_ENST00000201943.5_Silent_p.Y434Y|CACNB4_ENST00000539935.1_Silent_p.Y496Y|CACNB4_ENST00000397327.2_Silent_p.Y449Y|CACNB4_ENST00000427385.1_Silent_p.Y478Y			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	496					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	AAGTGTCCTGGTATGAGTCAG	0.458000													12	55					0	0	0.000978159	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865069	10865069	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:10865069G>A	ENST00000254488.2	+	4	681	c.615G>A	c.(613-615)gaG>gaA	p.E205E	SLC6A11_ENST00000454147.1_Silent_p.E205E	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	205					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTGTCATGGAGTTTTGGGAGT	0.507000													17	19					0	0	0.000566183	0	0
XIST	7503	broad.mit.edu	37	X	73064629	73064629	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:73064629G>A	ENST00000429829.1	-	0	7959					NR_001564.2																						TTATTCAGATGAGATAGGCCG	0.458000													27	55					0	0	0.000878237	0	0
PTPRT	11122	broad.mit.edu	37	20	41419967	41419967	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:41419967C>T	ENST00000373198.3	-	3	589	c.354G>A	c.(352-354)ggG>ggA	p.G118G	PTPRT_ENST00000373187.1_Silent_p.G118G|PTPRT_ENST00000373201.1_Silent_p.G118G|PTPRT_ENST00000373184.1_Silent_p.G118G|PTPRT_ENST00000373193.3_Silent_p.G118G|PTPRT_ENST00000356100.2_Silent_p.G118G|PTPRT_ENST00000373190.1_Silent_p.G118G	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	118	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGTTCAAGGCCCCTGGGCTGG	0.597000													15	53					0	0	0.000219431	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592605	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:167592605T>G	ENST00000366832.2	+	6	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582000													3	12					0	0	0.00024832	0	0
KRT36	8689	broad.mit.edu	37	17	39642737	39642737	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:39642737G>A	ENST00000393986.2	-	8	1357	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	KRT36_ENST00000328119.6_Missense_Mutation_p.P432L			O76013	KRT36_HUMAN	keratin 36	432	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CGGGGTGCAGGGCACAGAGGG	0.602000													9	18					0	0	0.000274275	0	0
GRM8	2918	broad.mit.edu	37	7	126544699	126544699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:126544699C>T	ENST00000339582.2	-	4	1574	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	GRM8_ENST00000358373.3_Missense_Mutation_p.E256K|GRM8_ENST00000444921.2_Missense_Mutation_p.E256K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.E256K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	256					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTCTTGGTTCACGTGGGATT	0.398000										HNSCC(24;0.065)			41	73					0	0	0.000228196	0	0
CDCA7	83879	broad.mit.edu	37	2	174228117	174228117	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:174228117C>T	ENST00000306721.3	+	4	651	c.548C>T	c.(547-549)tCc>tTc	p.S183F	CDCA7_ENST00000392567.2_Missense_Mutation_p.S104F|CDCA7_ENST00000347703.3_Missense_Mutation_p.S104F|CDCA7_ENST00000410019.3_Missense_Mutation_p.S62F|CDCA7_ENST00000410101.3_Missense_Mutation_p.S139F	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	104	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATTCCAACTCCGATTCAGAA	0.433000													17	78					0	0	0.000422831	0	0
VAV1	7409	broad.mit.edu	37	19	6820742	6820742	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:6820742C>T	ENST00000304076.2	+	2	328	c.234C>T	c.(232-234)ttC>ttT	p.F78F	VAV1_ENST00000602142.1_Silent_p.F78F|VAV1_ENST00000599806.1_Silent_p.F23F|VAV1_ENST00000596764.1_Silent_p.F78F|VAV1_ENST00000539284.1_Silent_p.F13F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	78	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTAGAACCTTCCTGTCCACCT	0.552000													32	96					0	0	0.00058488	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077388	32077388	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:32077388G>A	ENST00000354689.6	+	0	3				RP11-1166P10.6_ENST00000566806.1_RNA																							CCCAGTGTGAGGTGCAGCTGG	0.532000													28	112					0	0	0.00106085	0	0
RTN4	57142	broad.mit.edu	37	2	55252222	55252222	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:55252222C>T	ENST00000337526.6	-	3	3256	c.3013_splice	c.e3+1	p.V1005_splice	RTN4_ENST00000394611.2_Splice_Site_p.V799_splice|RTN4_ENST00000404909.1_Splice_Site_p.V799_splice|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Splice_Site_p.V799_splice|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Splice_Site_p.V773_splice|RTN4_ENST00000357376.3_Splice_Site_p.V799_splice|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1005	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATTGGATTACCTGAAGTTTTA	0.353000													23	49					0	0	0.00047179	0	0
BDP1	55814	broad.mit.edu	37	5	70858216	70858216	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:70858216T>A	ENST00000358731.4	+	38	7875	c.7612T>A	c.(7612-7614)Tta>Ata	p.L2538I	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2538					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATACCTGGATTAAGAAAGAA	0.358000													13	57					0	0	0.000151284	0	0
CACNB4	785	broad.mit.edu	37	2	152695707	152695707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:152695707G>A	ENST00000360283.6	-	13	1647	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	CACNB4_ENST00000534999.1_Nonsense_Mutation_p.Q463*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.Q435*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.Q497*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.Q450*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.Q479*			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	497					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TAAGTGTCCTGGTATGAGTCA	0.463000													12	55					0	0	0.000978159	0	0
PCDH1	5097	broad.mit.edu	37	5	141248676	141248676	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:141248676G>A	ENST00000287008.3	-	2	508	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	PCDH1_ENST00000456271.1_Missense_Mutation_p.R121C|PCDH1_ENST00000394536.3_Missense_Mutation_p.R121C|PCDH1_ENST00000536585.1_Missense_Mutation_p.R99C|PCDH1_ENST00000503492.1_Missense_Mutation_p.R121C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	121	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCATTCACGGAGCCCCTCA	0.592000													19	32					0	0	0.000229342	0	0
RGS22	26166	broad.mit.edu	37	8	100975164	100975164	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:100975164C>T	ENST00000360863.6	-	25	3852	c.3658G>A	c.(3658-3660)Gag>Aag	p.E1220K	RGS22_ENST00000523287.1_Missense_Mutation_p.E1039K|RGS22_ENST00000523437.1_Missense_Mutation_p.E1208K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1220					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAATTCTCTCCTGTTCTAAG	0.313000													8	69					0	0	0.000442599	0	0
FIBIN	387758	broad.mit.edu	37	11	27016482	27016482	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:27016482C>T	ENST00000318627.2	+	1	855	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	137						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGACAAATCCCTCACTGAGCT	0.587000													12	36					0	0	0.000151284	0	0
MATR3	9782	broad.mit.edu	37	5	138655053	138655053	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:138655053G>C	ENST00000394800.2	+	13	2014	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H	MATR3_ENST00000502929.1_Missense_Mutation_p.D489H|MATR3_ENST00000502499.1_Missense_Mutation_p.D151H|MATR3_ENST00000509990.1_Missense_Mutation_p.D489H|MATR3_ENST00000394805.3_Missense_Mutation_p.D489H|MATR3_ENST00000510056.1_Missense_Mutation_p.D489H|MATR3_ENST00000503811.1_Missense_Mutation_p.D201H|MATR3_ENST00000504203.1_Missense_Mutation_p.D151H|MATR3_ENST00000361059.2_Missense_Mutation_p.D489H			P43243	MATR3_HUMAN	matrin 3	489						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCAGAAGTTTGATCAAAAGCA	0.373000													14	82					0	0	0.000422831	0	0
FAM71F2	346653	broad.mit.edu	37	7	128315743	128315743	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:128315743G>A	ENST00000480462.1	+	2	301	c.195G>A	c.(193-195)ggG>ggA	p.G65G	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Silent_p.G65G|FAM71F2_ENST00000378704.3_Silent_p.G56G			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	65										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CTAAGCCCGGGAACTGGAGAG	0.557000													7	29					0	0	0.000274275	0	0
EEF1E1	9521	broad.mit.edu	37	6	8097525	8097525	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:8097525T>C	ENST00000379715.5	-	2	319	c.263A>G	c.(262-264)aAa>aGa	p.K88R	EEF1E1_ENST00000429723.2_Missense_Mutation_p.K88R|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.K88R|EEF1E1_ENST00000507463.1_Missense_Mutation_p.K88R	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	88	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GATGTCATTTTTACTGGAGTG	0.413000													37	93					0	0	0.000437636	0	0
ZC3H6	376940	broad.mit.edu	37	2	113069500	113069500	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:113069500G>A	ENST00000409871.1	+	5	1134	c.733G>A	c.(733-735)Gat>Aat	p.D245N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D245N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	245							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TTCAGTATCGGATGACTTTCA	0.373000													4	35					0	0	0.00024832	0	0
GLI3	2737	broad.mit.edu	37	7	42011936	42011936	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:42011936C>T	ENST00000395925.3	-	13	2187	c.2103_splice	c.e13+1	p.M701_splice	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	701					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATGACATACCATTGGCTTCT	0.542000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				63	159					0	0	0.000781405	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036201	57036201	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:57036201G>A	ENST00000371149.3	-	4	1381	c.1151C>T	c.(1150-1152)gCc>gTc	p.A384V	APCDD1L_ENST00000439429.1_Missense_Mutation_p.A395V|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	384						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CATGGACCAGGCCCCCGCACC	0.627000													15	48					0	0	0.000132079	0	0
SMC4	10051	broad.mit.edu	37	3	160135741	160135741	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:160135741G>A	ENST00000357388.3	+	11	2119	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	SMC4_ENST00000360111.2_Silent_p.K556K|SMC4_ENST00000344722.5_Silent_p.K556K|SMC4_ENST00000462787.1_Silent_p.K556K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Silent_p.K531K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	556					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGAATTAAAGGAGGTAAATC	0.388000													5	11					0	0	0.000602214	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													4	42					0	0	0.000602214	0	0
KDM5A	5927	broad.mit.edu	37	12	417100	417100	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:417100G>A	ENST00000399788.2	-	23	3812	c.3450C>T	c.(3448-3450)gcC>gcT	p.A1150A	KDM5A_ENST00000382815.4_Silent_p.A1150A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1150					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTGTCATCTTGGCTAGGTTGG	0.438000			T	NUP98	AML								45	107					0	0	0.000781405	0	0
ZNF699	374879	broad.mit.edu	37	19	9407134	9407134	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9407134A>C	ENST00000591998.1	-	6	1174	c.946T>G	c.(946-948)Ttc>Gtc	p.F316V	ZNF699_ENST00000308650.3_Missense_Mutation_p.F316V			Q32M78	ZN699_HUMAN	zinc finger protein 699	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACAACTGAAGGCCTTCCCA	0.423000													8	61					0	0	0.000157383	0	0
OR10R2	343406	broad.mit.edu	37	1	158450091	158450091	+	Missense_Mutation	SNP	C	C	T	rs138574952		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:158450091C>T	ENST00000368152.1	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTTATGATCGCTATGCTGC	0.498000													42	191					0	0	0.000781405	0	0
TARSL2	123283	broad.mit.edu	37	15	102197160	102197160	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:102197160C>T	ENST00000335968.3	-	18	2441	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	742					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGTGCATTTCGTATTTTCTT	0.318000													5	32					0	0	0.000602214	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788486	140788486	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140788486C>T	ENST00000520790.1	+	1	717	c.717C>T	c.(715-717)ccC>ccT	p.P239P	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGATAACCCCCCGGTTTTCA	0.502000													10	17					0	0	0.000442599	0	0
RUSC2	9853	broad.mit.edu	37	9	35556374	35556374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:35556374C>T	ENST00000455600.1	+	5	3481	c.2912C>T	c.(2911-2913)cCt>cTt	p.P971L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	971						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACGGAGAAGCCTCCAGCTGAG	0.532000													19	42					0	0	0.000132079	0	0
CNTN3	5067	broad.mit.edu	37	3	74347205	74347205	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:74347205G>A	ENST00000263665.6	-	17	2331	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	768	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATGGCACGATGCTTTCAT	0.453000													22	36					0	0	0.00047179	0	0
DLG5	9231	broad.mit.edu	37	10	79565430	79565430	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:79565430G>A	ENST00000372391.2	-	27	5162	c.5157C>T	c.(5155-5157)ctC>ctT	p.L1719L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1379L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1719					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCCTTCAAAGAGTGGAATGG	0.527000													29	35					0	0	0.000491102	0	0
KCNA10	3744	broad.mit.edu	37	1	111060909	111060909	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:111060909G>A	ENST00000369771.2	-	1	888	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	167						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCTCATAGAAGGAGATTTCAT	0.488000													20	40					0	0	0.000132079	0	0
POM121	9883	broad.mit.edu	37	7	72413673	72413673	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:72413673C>T	ENST00000395270.1	+	14	3387	c.2346C>T	c.(2344-2346)ttC>ttT	p.F782F	POM121_ENST00000257622.4_Silent_p.F782F|POM121_ENST00000434423.2_Silent_p.F1047F|POM121_ENST00000446813.1_Silent_p.F782F|POM121_ENST00000358357.3_Silent_p.F782F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1047	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTCGGCCTTCGGCGCTCCCG	0.647000													19	48					0	0	0.000175454	0	0
F13A1	2162	broad.mit.edu	37	6	6146001	6146001	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:6146001T>A	ENST00000264870.3	-	15	2315	c.2050A>T	c.(2050-2052)Atc>Ttc	p.I684F		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	684					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTGGGCCGGATTTCACTGAAA	0.517000													17	39					0	0	0.000132079	0	0
ADAM7	8756	broad.mit.edu	37	8	24359024	24359024	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:24359024G>A	ENST00000175238.6	+	20	2226	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G487R|ADAM7_ENST00000380789.1_Missense_Mutation_p.G715R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	715					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G715*(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGAGAACAAAGGATACTTTGG	0.373000													21	71					0	0	0.000184323	0	0
TIMD4	91937	broad.mit.edu	37	5	156381674	156381674	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:156381674C>T	ENST00000274532.2	-	2	208	c.152G>A	c.(151-153)aGc>aAc	p.S51N	TIMD4_ENST00000407087.3_Missense_Mutation_p.S51N	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	51	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCACATGCTGTTGCTGTT	0.537000													114	338					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152471030	152471030	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:152471030C>T	ENST00000397345.3	-	77	11563	c.11361G>A	c.(11359-11361)ccG>ccA	p.P3787P	NEB_ENST00000409198.1_Silent_p.P3544P|NEB_ENST00000172853.10_Silent_p.P3544P|NEB_ENST00000603639.1_Silent_p.P3787P|NEB_ENST00000604864.1_Silent_p.P3787P|NEB_ENST00000427231.2_Silent_p.P3787P	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3787					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.P3544P(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCTTCGGGTCATCCT	0.468000													62	161					0	0	0.000781405	0	0
CCDC148	130940	broad.mit.edu	37	2	159166112	159166112	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:159166112T>C	ENST00000283233.5	-	9	1256	c.943A>G	c.(943-945)Ata>Gta	p.I315V	CCDC148_ENST00000409187.1_Missense_Mutation_p.I324V|CCDC148_ENST00000536771.1_Missense_Mutation_p.I229V	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	315										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGCTGCTCTATAGCAAAGCGA	0.353000													18	60					0	0	0.000175454	0	0
EBF1	1879	broad.mit.edu	37	5	158141145	158141145	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:158141145C>T	ENST00000313708.6	-	12	1453	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	EBF1_ENST00000517373.1_Missense_Mutation_p.G383R|EBF1_ENST00000380654.4_Missense_Mutation_p.G360R|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	391					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGGCATCCCATACAGTGCT	0.468000			T	HMGA2	lipoma								45	170					0	0	0.000781405	0	0
ZNF670	93474	broad.mit.edu	37	1	247201394	247201394	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:247201394T>C	ENST00000366503.2	-	4	685	c.527A>G	c.(526-528)aAg>aGg	p.K176R		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATCAAAAGGCTTCTCATACAC	0.383000													21	38					0	0	0.000175454	0	0
TENM1	10178	broad.mit.edu	37	X	123699397	123699397	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:123699397C>T	ENST00000422452.2	-	12	2154	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	TENM1_ENST00000371130.3_Missense_Mutation_p.M697I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TACCACACTCCATGGTACACA	0.408000													8	42					0	0	0.000157383	0	0
ABI3	51225	broad.mit.edu	37	17	47297556	47297556	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:47297556C>T	ENST00000225941.1	+	6	1168	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	ABI3_ENST00000419580.2_Missense_Mutation_p.P218S	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	224	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CGGTGGGGCCCCCACGCCCAA	0.687000										HNSCC(55;0.14)			9	17					0	0	0.000673444	0	0
ROCK2	9475	broad.mit.edu	37	2	11355166	11355166	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:11355166G>A	ENST00000315872.6	-	16	2184	c.1736C>T	c.(1735-1737)gCc>gTc	p.A579V	ROCK2_ENST00000401753.1_Missense_Mutation_p.A336V	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	579	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCTTAACCGGGCTGCAGTATC	0.413000													11	55					0	0	0.000673444	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492217	85492217	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:85492217C>T	ENST00000393217.2	+	12	3033	c.2972C>T	c.(2971-2973)cCt>cTt	p.P991L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	991										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTGATACACCTACCATTGTA	0.328000													21	79					0	0	0.000175454	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805830	44805830	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:44805830C>T	ENST00000309315.4	+	17	2433	c.2310C>T	c.(2308-2310)acC>acT	p.T770T	ZMIZ2_ENST00000441627.1_Silent_p.T770T|ZMIZ2_ENST00000265346.7_Silent_p.T744T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Silent_p.T738T|ZMIZ2_ENST00000413916.1_Silent_p.T712T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	770	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCACCCCAACCCTTGCTGAGT	0.637000													21	40					0	0	0.000175454	0	0
TTN	7273	broad.mit.edu	37	2	179636195	179636195	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:179636195C>T	ENST00000589042.1	-	34	8083	c.7859G>A	c.(7858-7860)gGg>gAg	p.G2620E	TTN_ENST00000359218.5_Missense_Mutation_p.G2574E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G2574E|TTN_ENST00000360870.5_Missense_Mutation_p.G2620E|TTN_ENST00000342175.6_Missense_Mutation_p.G2574E|TTN_ENST00000591111.1_Missense_Mutation_p.G2620E|TTN_ENST00000342992.6_Missense_Mutation_p.G2620E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2354	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGATGGCCCCACCTTTGGA	0.408000													15	68					0	0	0.000958276	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861163	34861163	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:34861163G>A	ENST00000314399.3	-	2	976	c.538C>T	c.(538-540)Cct>Tct	p.P180S	DNAJC28_ENST00000402202.1_Missense_Mutation_p.P180S|DNAJC28_ENST00000381947.3_Missense_Mutation_p.P180S	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	180							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						ACACTATCAGGAAAATACTGG	0.393000													17	95					0	0	0.000958276	0	0
DLG3	1741	broad.mit.edu	37	X	69719869	69719869	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:69719869C>T	ENST00000194900.4	+	18	2552	c.2211C>T	c.(2209-2211)agC>agT	p.S737S	DLG3_ENST00000542398.1_Silent_p.S254S|DLG3_ENST00000374355.3_Silent_p.S400S|DLG3_ENST00000374360.3_Silent_p.S705S|DLG3_ENST00000461646.1_3'UTR			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	705	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ATGGGACCAGCATCCAGTCAG	0.493000													7	48					0	0	0.000157383	0	0
OTOGL	283310	broad.mit.edu	37	12	80714336	80714336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:80714336C>T	ENST00000458043.2	+	33	3916	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.Q1304*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTCCACCATCAGGGCCTCTG	0.418000													10	36					0	0	0.00010058	0	0
ABCA5	23461	broad.mit.edu	37	17	67246096	67246096	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:67246096G>A	ENST00000392676.3	-	37	4779	c.4715C>T	c.(4714-4716)cCt>cTt	p.P1572L	ABCA5_ENST00000588877.1_Missense_Mutation_p.P1572L|ABCA5_ENST00000392677.2_Missense_Mutation_p.P1573L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1572					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATCTTCCTTAGGAATTTTATA	0.274000													7	41					0	0	0.000274275	0	0
MYLK	4638	broad.mit.edu	37	3	123419379	123419379	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:123419379G>A	ENST00000360772.3	-	19	3314	c.2936C>T	c.(2935-2937)cCg>cTg	p.P979L	MYLK_ENST00000359169.1_Missense_Mutation_p.P979L|MYLK_ENST00000360304.3_Missense_Mutation_p.P979L|MYLK_ENST00000475616.1_Missense_Mutation_p.P979L|MYLK_ENST00000346322.5_Missense_Mutation_p.P910L			Q15746	MYLK_HUMAN	myosin light chain kinase	979	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCGAAAATCCGGGGTGGCAGG	0.587000													16	48					0	0	0.000958276	0	0
CD22	933	broad.mit.edu	37	19	35823534	35823534	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:35823534T>C	ENST00000085219.5	+	3	185	c.119T>C	c.(118-120)gTc>gCc	p.V40A	CD22_ENST00000341773.6_Missense_Mutation_p.V40A|CD22_ENST00000536635.2_Missense_Mutation_p.V40A|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.V40A|CD22_ENST00000544992.2_Missense_Mutation_p.V40A|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000595419.1_3'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	40	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GGGGCCTGCGTCTGGATCCCC	0.502000													10	71					0	0	0.000673444	0	0
MYL6B	140465	broad.mit.edu	37	12	56548872	56548872	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:56548872T>C	ENST00000553066.1	+	4	658	c.236T>C	c.(235-237)gTg>gCg	p.V79A	MYL6B_ENST00000552568.1_Missense_Mutation_p.V79A|MYL6B_ENST00000207437.5_Missense_Mutation_p.V79A|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550443.1_Missense_Mutation_p.V79A|MYL6B_ENST00000550152.1_3'UTR			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	79	EF-hand 1.				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTTGACCGAGTGGGGGATGGC	0.582000													55	163					0	0	0.000781405	0	0
NXPE4	54827	broad.mit.edu	37	11	114453641	114453641	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:114453641C>T	ENST00000375478.3	-	3	379	c.199G>A	c.(199-201)Gag>Aag	p.E67K	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AGTTCAGTCTCTGTTAGTGGC	0.443000													21	159					0	0	0.00047179	0	0
KLHL4	56062	broad.mit.edu	37	X	86880701	86880701	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:86880701C>T	ENST00000373119.4	+	6	1374	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	KLHL4_ENST00000373114.4_Missense_Mutation_p.P410L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	410						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CATCTTTTGCCTGAGAGAAGA	0.438000													6	34					0	0	8.12818e-05	0	0
ADH1B	125	broad.mit.edu	37	4	100242475	100242475	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:100242475C>T	ENST00000305046.8	-	1	81	c.14G>A	c.(13-15)gGa>gAa	p.G5E	ADH1B_ENST00000394887.3_5'UTR|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	5					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.333000													11	41					0	0	0.000151284	0	0
IDI1	3422	broad.mit.edu	37	10	1087205	1087205	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:1087205C>T	ENST00000381344.3	-	5	943	c.777G>A	c.(775-777)gcG>gcA	p.A259A	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	202					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGAGAAAAGTCGCTGCAATAA	0.318000													25	28					0	0	0.000375601	0	0
DNAH10	196385	broad.mit.edu	37	12	124358152	124358152	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:124358152C>T	ENST00000409039.3	+	45	7504	c.7479C>T	c.(7477-7479)atC>atT	p.I2493I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2493	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATGGATATCCAAAGAAATT	0.463000													10	45					0	0	0.000442599	0	0
GFRAL	389400	broad.mit.edu	37	6	55223928	55223928	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:55223928C>T	ENST00000340465.2	+	6	1030	c.944C>T	c.(943-945)tCa>tTa	p.S315L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	315						integral to membrane	receptor activity	p.S315L(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAGAAAATCATGTTTCAGT	0.343000													15	28					0	0	0.000308642	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308491	140308491	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140308491G>A	ENST00000253807.2	+	1	2014	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E672K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGTCTGGGAACCAGGAGG	0.478000													33	98					0	0	0.000409698	0	0
PTPRT	11122	broad.mit.edu	37	20	40944418	40944418	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:40944418A>C	ENST00000373198.3	-	12	2319	c.2084T>G	c.(2083-2085)cTc>cGc	p.L695R	PTPRT_ENST00000373187.1_Missense_Mutation_p.L695R|PTPRT_ENST00000373201.1_Missense_Mutation_p.L695R|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695R|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695R|PTPRT_ENST00000356100.2_Missense_Mutation_p.L695R|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	695	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGGGAGAGAGAGGAGGGTT	0.498000													9	82					0	0	0.000442599	0	0
ASXL3	80816	broad.mit.edu	37	18	31324184	31324184	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:31324184G>A	ENST00000269197.5	+	12	4372	c.4372G>A	c.(4372-4374)Ggg>Agg	p.G1458R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAACCACCAGGGGGCTTTGC	0.493000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	98					0	0	0.000319135	0	0
GAREM	64762	broad.mit.edu	37	18	29867779	29867779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:29867779C>T	ENST00000399218.4	-	4	836	c.781G>A	c.(781-783)Gac>Aac	p.D261N	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.D261N	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AAGTGGAGGTCGTATGGGTTT	0.537000													25	106					0	0	0.000279167	0	0
OTOP2	92736	broad.mit.edu	37	17	72926688	72926688	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:72926688C>T	ENST00000331427.4	+	6	1050	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	OTOP2_ENST00000580223.1_Missense_Mutation_p.R320C	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	320						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGACGGGAGCCGCACCAGGCA	0.582000													5	30					0	0	3.59834e-05	0	0
ATP1A3	478	broad.mit.edu	37	19	42482827	42482827	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:42482827C>T	ENST00000545399.1	-	12	1753	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	ATP1A3_ENST00000543770.1_Missense_Mutation_p.D532N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.D491N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.D521N	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	521					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATTTCCTCGTCCAGAGGCTGC	0.657000													12	54					0	0	0.00010058	0	0
CTNNB1	1499	broad.mit.edu	37	3	41278183	41278183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:41278183C>T	ENST00000349496.5	+	13	2339	c.2059C>T	c.(2059-2061)Cca>Tca	p.P687S	CTNNB1_ENST00000396183.3_Missense_Mutation_p.P687S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P687S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P687S|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P680S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	687					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAGAACAGAGCCAATGGCTTG	0.443000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				31	80					0	0	0.00058488	0	0
KRT79	338785	broad.mit.edu	37	12	53228034	53228034	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:53228034G>A	ENST00000330553.5	-	1	45	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	4	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCGAGAGACGGAGGACCTCAT	0.612000													6	27					0	0	3.59834e-05	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483646	202483646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:202483646C>T	ENST00000439140.1	-	1	252	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.G70S|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.G70S|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.G70S	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	70										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGCCCGGTGCCCTCCTGGTTC	0.637000													11	23					0	0	0.000978159	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22833544	22833544	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22833544C>G	ENST00000283645.4	+	1	150	c.20C>G	c.(19-21)cCg>cGg	p.P7R	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.P7R	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	7					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACGGGCCACCGTGGAGTCGG	0.721000													4	4					0	0	0.00024832	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482592	140482592	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140482592C>T	ENST00000231130.2	+	1	2359	c.2359C>T	c.(2359-2361)Ccc>Tcc	p.P787S		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		787					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGCAAATCCCAGTTTCAG	0.453000													18	92					0	0	0.00047179	0	0
P4HA3	283208	broad.mit.edu	37	11	73997389	73997389	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:73997389G>A	ENST00000331597.4	-	6	862	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	P4HA3_ENST00000427714.2_Missense_Mutation_p.L273F	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	273						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					TCTGCCAAGAGCCTTTCATAT	0.498000													23	137					0	0	0.000586117	0	0
IQCG	84223	broad.mit.edu	37	3	197665517	197665517	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:197665517G>A	ENST00000265239.6	-	5	841	c.417C>T	c.(415-417)ttC>ttT	p.F139F	IQCG_ENST00000453254.1_Silent_p.F139F|IQCG_ENST00000455191.1_Silent_p.F139F	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	139										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACTCCACAGCGAACCGGCCTC	0.428000													82	282					0	0	0.000781405	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134475675	134475675	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:134475675G>A	ENST00000319914.5	-	7	1738	c.711C>T	c.(709-711)atC>atT	p.I237I	ST3GAL1_ENST00000522652.1_Silent_p.I237I|ST3GAL1_ENST00000521180.1_Silent_p.I237I|ST3GAL1_ENST00000399640.2_Silent_p.I237I			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	237					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GTTTCACTCTGATCTTTGCAG	0.557000													61	54					0	0	0.000781405	0	0
TRIM55	84675	broad.mit.edu	37	8	67061995	67061995	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:67061995A>C	ENST00000315962.4	+	5	1092	c.719A>C	c.(718-720)aAa>aCa	p.K240T	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.K240T|TRIM55_ENST00000276573.7_Missense_Mutation_p.K240T	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	240						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAAGAGGAGAAACTGGAACAT	0.418000													14	70					0	0	0.000151284	0	0
BTK	695	broad.mit.edu	37	X	100613678	100613678	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:100613678C>T	ENST00000308731.7	-	11	1064	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	BTK_ENST00000372880.1_Missense_Mutation_p.E301K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	301	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAACCTCCTTCTTTCCCCTGA	0.473000									Agammaglobulinemia, X-linked				23	123					0	0	0.000295444	0	0
RYR2	6262	broad.mit.edu	37	1	237754135	237754135	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:237754135G>A	ENST00000366574.2	+	31	4320	c.4003G>A	c.(4003-4005)Gaa>Aaa	p.E1335K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1319K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1333K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1335	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATGACTTGGAAGATTATGA	0.522000													10	77					0	0	0.000442599	0	0
REEP2	51308	broad.mit.edu	37	5	137776703	137776703	+	Splice_Site	SNP	A	A	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:137776703A>G	ENST00000378339.2	+	2	224		c.e2-1		REEP2_ENST00000464751.2_Splice_Site|REEP2_ENST00000506158.1_5'UTR|REEP2_ENST00000254901.5_Splice_Site	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2							integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGCCTCCCTAGGCTCATCTT	0.557000													7	38					0	0	0.000157383	0	0
AGO1	26523	broad.mit.edu	37	1	36354143	36354143	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:36354143C>T	ENST00000373204.4	+	2	354	c.141C>T	c.(139-141)atC>atT	p.I47I	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		AGGTGGACATCCCTAAGATCG	0.562000													15	69					0	0	0.000308642	0	0
HRC	3270	broad.mit.edu	37	19	49657463	49657463	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:49657463C>T	ENST00000252825.4	-	1	1218	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	HRC_ENST00000595625.1_Silent_p.R344R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	344	4 X tandem repeats, acidic.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCTTGGTGCCTGTGGTCAG	0.557000													20	45					0	0	0.000132079	0	0
SHBG	6462	broad.mit.edu	37	17	7534095	7534095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:7534095C>T	ENST00000380450.4	+	3	332	c.301C>T	c.(301-303)Cga>Tga	p.R101*	SHBG_ENST00000570547.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000576728.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000575903.1_Nonsense_Mutation_p.R101*|SHBG_ENST00000572262.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000575314.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000572182.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000574539.1_Nonsense_Mutation_p.R43*|SHBG_ENST00000441599.2_Nonsense_Mutation_p.R101*|SHBG_ENST00000416273.3_Nonsense_Mutation_p.R101*|SHBG_ENST00000340624.5_Nonsense_Mutation_p.R43*|SHBG_ENST00000576478.1_Nonsense_Mutation_p.R43*	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	101	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GCTGGGACTTCGAGACGGCAG	0.552000													7	28					0	0	0.000157383	0	0
CNNM2	54805	broad.mit.edu	37	10	104679596	104679596	+	Silent	SNP	C	C	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:104679596C>G	ENST00000369878.3	+	1	1483	c.1359C>G	c.(1357-1359)ctC>ctG	p.L453L	CNNM2_ENST00000369875.3_Silent_p.L453L|CNNM2_ENST00000433628.2_Silent_p.L453L|CNNM2_ENST00000457502.2_Silent_p.L211L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	453	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGACCCCACTCCGGGACTGCT	0.577000													17	16					0	0	0.00074312	0	0
DOCK2	1794	broad.mit.edu	37	5	169507175	169507175	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:169507175G>A	ENST00000256935.8	+	50	5255	c.5175G>A	c.(5173-5175)agG>agA	p.R1725R	DOCK2_ENST00000540750.1_Silent_p.R786R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.R1217R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1725					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTTTCCAGGAAGCATGAGT	0.537000													13	65					0	0	0.000151284	0	0
COL14A1	7373	broad.mit.edu	37	8	121259933	121259933	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:121259933C>T	ENST00000297848.3	+	21	2831	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	COL14A1_ENST00000247781.3_Missense_Mutation_p.S759F|COL14A1_ENST00000309791.4_Missense_Mutation_p.S854F|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	854	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCCCATCTTCCCCGGTGAAA	0.453000													20	109					0	0	0.000295444	0	0
TICRR	90381	broad.mit.edu	37	15	90168917	90168917	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:90168917C>T	ENST00000268138.7	+	20	5481	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.D1791D					TOPBP1-interacting checkpoint and replication regulator																		GGATCTGTGACCTGAGAGAAG	0.527000													12	51					0	0	0.000978159	0	0
ADAM7	8756	broad.mit.edu	37	8	24333986	24333986	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:24333986G>A	ENST00000175238.6	+	8	757	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_5'UTR|ADAM7_ENST00000380789.1_Missense_Mutation_p.R225Q|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R225Q(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTAAGGAACCGAATTTGGGGA	0.333000													14	37					0	0	0.00074312	0	0
APOB	338	broad.mit.edu	37	2	21230565	21230565	+	Missense_Mutation	SNP	G	G	A	rs146377316		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:21230565G>A	ENST00000233242.1	-	26	9302	c.9175C>T	c.(9175-9177)Cgt>Tgt	p.R3059C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3059					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3059C(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGGAAAACGAACTTTCAAA	0.403000													224	365					0	0	0.000781405	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167787	185167787	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:185167787C>T	ENST00000265026.3	+	6	1444	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	MAP3K13_ENST00000446828.1_Silent_p.L163L|MAP3K13_ENST00000424227.1_Silent_p.L370L|MAP3K13_ENST00000535426.1_Silent_p.L226L|MAP3K13_ENST00000443863.1_Silent_p.L226L	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	370	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCAACAGCCTCCACCTTCCAG	0.453000													39	101					0	0	0.000437636	0	0
RHOD	29984	broad.mit.edu	37	11	66834316	66834316	+	Silent	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:66834316C>A	ENST00000308831.2	+	3	413	c.328C>A	c.(328-330)Cgg>Agg	p.R110R	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Silent_p.R110R	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	110					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						CATCTTTAACCGGGTAGGTAC	0.617000													5	67					0.000602214	0.00613921	0.000602214	1	0
EDEM2	55741	broad.mit.edu	37	20	33722705	33722705	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:33722705G>A	ENST00000540582.1	-	10	1136	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	EDEM2_ENST00000374492.3_Missense_Mutation_p.H180Y|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374491.2_Missense_Mutation_p.H143Y			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	180					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTCACGCCATGAAGTAAGTTC	0.537000													15	53					0	0	0.000566183	0	0
OR6C2	341416	broad.mit.edu	37	12	55846227	55846227	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55846227C>T	ENST00000322678.1	+	1	230	c.230C>T	c.(229-231)cCc>cTc	p.P77L	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GTCTGCATTCCCAGATTCTTG	0.373000													35	104					0	0	0.000692331	0	0
SCN5A	6331	broad.mit.edu	37	3	38674603	38674603	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:38674603C>T	ENST00000413689.1	-	2	389	c.196G>A	c.(196-198)Gat>Aat	p.D66N	SCN5A_ENST00000423572.2_Missense_Mutation_p.D66N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D66N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D66N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D66N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D66N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D66N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D66N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D66N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D66N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	66					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCATAGAGATCTGGCAGCTTT	0.642000													7	16					0	0	8.12818e-05	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751901	26751901	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:26751901G>A	ENST00000396641.2	+	2	1330	c.738G>A	c.(736-738)caG>caA	p.Q246Q	LRRC3B_ENST00000456208.2_Silent_p.Q246Q|LRRC3B_ENST00000417744.1_Silent_p.Q246Q	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	246						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAAGCAGGCAGAAGAAAGCAG	0.423000													9	19					0	0	0.000673444	0	0
VPS33A	65082	broad.mit.edu	37	12	122720409	122720409	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:122720409G>A	ENST00000267199.4	-	11	1476	c.1364C>T	c.(1363-1365)cCg>cTg	p.P455L	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.P416L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	455					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCCCGTCTGCGGTTTCAGCAG	0.493000													76	139					0	0	0.000781405	0	0
OTOGL	283310	broad.mit.edu	37	12	80704414	80704414	+	Silent	SNP	T	T	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:80704414T>A	ENST00000458043.2	+	29	3336	c.3330T>A	c.(3328-3330)atT>atA	p.I1110I	OTOGL_ENST00000547103.1_Silent_p.I1110I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGAAACAATTAAACCCTGTG	0.353000													24	84					0	0	0.000586117	0	0
CACNA1E	777	broad.mit.edu	37	1	181705482	181705482	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:181705482G>A	ENST00000526775.1	+	21	3442	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1093K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1044K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E719K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1112K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1063K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1112K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1112					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ggaggaggtggagaagaagaa	0.527000													3	7					0	0	6.4e-05	0	0
PTAFR	5724	broad.mit.edu	37	1	28477168	28477168	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:28477168G>A	ENST00000373857.3	-	2	999	c.365C>T	c.(364-366)cCc>cTc	p.P122L	PTAFR_ENST00000305392.3_Missense_Mutation_p.P122L|PTAFR_ENST00000539896.1_Missense_Mutation_p.P122L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	122					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCTTGATGGGCCGAGTTAC	0.557000													23	78					0	0	0.000295444	0	0
SEMG1	6406	broad.mit.edu	37	20	43836807	43836807	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:43836807C>T	ENST00000372781.3	+	2	926	c.869C>T	c.(868-870)tCt>tTt	p.S290F	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCATACCAATCTTCAAGTACA	0.378000													12	37					0	0	0.000978159	0	0
ILDR2	387597	broad.mit.edu	37	1	166908769	166908769	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:166908769C>A	ENST00000271417.3	-	4	593	c.538G>T	c.(538-540)Gct>Tct	p.A180S	ILDR2_ENST00000526687.1_Missense_Mutation_p.A180S|ILDR2_ENST00000469934.2_Missense_Mutation_p.A180S|ILDR2_ENST00000528703.1_Missense_Mutation_p.A180S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000525740.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	180						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATCTCCACAGCAAAACTGGGC	0.423000													22	48					3.10358e-05	0.000319845	0.000295444	1	0
TM9SF4	9777	broad.mit.edu	37	20	30730862	30730862	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:30730862C>T	ENST00000217315.5	+	6	895	c.555C>T	c.(553-555)taC>taT	p.Y185Y	TM9SF4_ENST00000398022.2_Silent_p.Y202Y			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	202						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCACACGTACCGTGTCGTCC	0.582000													20	36					0	0	0.000175454	0	0
AXIN1	8312	broad.mit.edu	37	16	338190	338190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:338190G>A	ENST00000262320.3	-	11	2892	c.2521C>T	c.(2521-2523)Cga>Tga	p.R841*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.R805*	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	841	DIX.		R -> Q (in hepatoblastoma; dbSNP:rs34015754).		activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCGTCCTCTCGAACCTCCTCA	0.592000													25	88					0	0	0.000878237	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131892	142131892	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:142131892G>A	ENST00000390375.2	-	0	26																											CAGAGGGACAGGAAGCACTGC	0.597000													7	37					0	0	8.12818e-05	0	0
XKR6	286046	broad.mit.edu	37	8	10756188	10756188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:10756188C>T	ENST00000416569.2	-	3	1226	c.1200G>A	c.(1198-1200)tgG>tgA	p.W400*	XKR6_ENST00000304437.2_Nonsense_Mutation_p.W121*	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	400						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATGGATGATCCAGAAGGCCA	0.502000													13	52					0	0	0.000151284	0	0
MTHFD1	4522	broad.mit.edu	37	14	64921458	64921458	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:64921458C>T	ENST00000555709.1	+	26	2970	c.2583C>T	c.(2581-2583)ccC>ccT	p.P861P	MTHFD1_ENST00000545908.1_Silent_p.P917P|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.7_Silent_p.P917P	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	861	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGAATCTCCCCATCTGCATGG	0.517000													11	16					0	0	0.000978159	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45255643	45255643	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:45255643C>T	ENST00000517296.3	+	16	1540	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C	PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.R435C|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.R335C|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.R304C|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.R514C|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.R426C|ARHGAP8_ENST00000336963.4_Intron					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CACTGGCTGCCGCCAGATCTT	0.677000													10	36					0	0	0.000219431	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199187	90199187	+	RNA	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:90199187C>T	ENST00000390276.2	+	0	529																											CTAACAGTTTCCCTCCCACAG	0.532000													37	96					0	0	0.000781405	0	0
UBR4	23352	broad.mit.edu	37	1	19407947	19407947	+	Silent	SNP	A	A	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:19407947A>T	ENST00000375267.2	-	103	15132	c.15129T>A	c.(15127-15129)ctT>ctA	p.L5043L	UBR4_ENST00000375225.3_Silent_p.L118L|UBR4_ENST00000429347.2_Silent_p.L566L|UBR4_ENST00000543981.1_Silent_p.L707L|UBR4_ENST00000375254.3_Silent_p.L5043L|UBR4_ENST00000375224.1_Silent_p.L750L|UBR4_ENST00000375217.2_Silent_p.L5036L|UBR4_ENST00000375226.2_Silent_p.L5019L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5043					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCAGGATGTGAAGGGCCAAGA	0.582000													35	175					0	0	0.000814825	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396095	65396095	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:65396095C>T	ENST00000355703.3	+	23	4271	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1244						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCTGCGTTTCGTGCTGACCT	0.602000													12	41					0	0	0.000151284	0	0
DYM	54808	broad.mit.edu	37	18	46956726	46956726	+	Silent	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:46956726T>C	ENST00000269445.6	-	2	496	c.39A>G	c.(37-39)aaA>aaG	p.K13K	DYM_ENST00000584977.1_5'UTR|DYM_ENST00000442713.2_Silent_p.K13K	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	13						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGTACTCATTTTTAGGAAGAT	0.398000													29	94					0	0	0.000491102	0	0
HES2	54626	broad.mit.edu	37	1	6479858	6479858	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:6479858C>T	ENST00000377834.4	-	1	121	c.23G>A	c.(22-24)gGg>gAg	p.G8E	HES2_ENST00000377837.1_Missense_Mutation_p.G8E|HES2_ENST00000487437.1_Missense_Mutation_p.G8E|HES2_ENST00000377836.4_Missense_Mutation_p.G8E|HES2_ENST00000489730.1_Missense_Mutation_p.G8E	NM_019089.4	NP_061962.2	Q9Y543	HES2_HUMAN	hes family bHLH transcription factor 2	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGCCGCGTCCCCTGCCCGGCG	0.751000													3	6					0	0	0.000602214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762728	176762728	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:176762728C>T	ENST00000367662.3	+	20	6217	c.5053C>T	c.(5053-5055)Ccc>Tcc	p.P1685S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1685	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTAATCCCCCCCAGTGACCC	0.473000													34	66					0	0	0.00058488	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884529	228884529	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:228884529G>A	ENST00000392056.3	-	7	1087	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	SPHKAP_ENST00000344657.5_Silent_p.S347S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	347						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATCCATCATGGAGAAATAAG	0.423000													40	83					0	0	0.000270559	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881170	94881170	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:94881170G>A	ENST00000289495.5	+	9	2643	c.2427_splice	c.e9+1	p.R809_splice	PPP1R9A_ENST00000433360.1_Splice_Site_p.R831_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.R809_splice|PPP1R9A_ENST00000424654.1_Splice_Site_p.R809_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.R809_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.R809_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	809	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCAAGTGCGGGTAAGTTGTG	0.383000										HNSCC(28;0.073)			8	58					0	0	0.000274275	0	0
IGFLR1	79713	broad.mit.edu	37	19	36230277	36230277	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:36230277G>A	ENST00000592537.1	-	5	1072	c.972C>T	c.(970-972)tcC>tcT	p.S324S	IGFLR1_ENST00000588992.1_Silent_p.S156S|IGFLR1_ENST00000344990.3_Silent_p.S136S|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Silent_p.S136S|IGFLR1_ENST00000246532.1_Silent_p.S324S			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	324						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GCTGGCCCAGGGAGGCAGAGG	0.642000													3	4					0	0	6.4e-05	0	0
WNT8B	7479	broad.mit.edu	37	10	102222943	102222943	+	Silent	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:102222943T>C	ENST00000343737.5	+	1	146	c.18T>C	c.(16-18)ccT>ccC	p.P6P		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	6					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TTTCAAAGCCTTCTGTGTACA	0.443000													37	72					0	0	0.000270559	0	0
PDGFRB	5159	broad.mit.edu	37	5	149495442	149495442	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:149495442C>T	ENST00000261799.4	-	23	3674	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1069					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCTCTGGTTCGTCCTGGGGC	0.632000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	11					0	0	0.000602214	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38348880	38348880	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:38348880G>A	ENST00000436615.3	+	12	1551	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S409N|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S354N|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S403N	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	560					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AACCACAAAAGCTACCGAGAA	0.532000													75	143					0	0	0.000781405	0	0
IPPK	64768	broad.mit.edu	37	9	95400563	95400563	+	Splice_Site	SNP	C	C	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:95400563C>G	ENST00000287996.3	-	9	913		c.e9-1			NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase						inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GCTCACCATTCTTCAGACAGG	0.552000													22	32					0	0	0.00047179	0	0
KIF1A	547	broad.mit.edu	37	2	241728654	241728654	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:241728654G>A	ENST00000498729.2	-	3	428	c.183_splice	c.e3+1	p.S61_splice	KIF1A_ENST00000320389.7_Splice_Site_p.S61_splice	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	61	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCGGCTTACTGAGGTGTGCGA	0.602000													15	30					0	0	0.000422831	0	0
FGF9	2254	broad.mit.edu	37	13	22275367	22275367	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:22275367C>T	ENST00000382353.5	+	3	950	c.420C>T	c.(418-420)ttC>ttT	p.F140F	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	140					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GAGAACAGTTCGAAGAAAACT	0.393000													7	24					0	0	0.000274275	0	0
TENM1	10178	broad.mit.edu	37	X	123870902	123870902	+	Silent	SNP	G	G	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:123870902G>T	ENST00000422452.2	-	4	744	c.681C>A	c.(679-681)ccC>ccA	p.P227P	TENM1_ENST00000371130.3_Silent_p.P227P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CAGCTGGGCTGGGCTGGCTGC	0.607000													23	129					1.03073e-24	1.07873e-23	0.000586117	1	0
F2R	2149	broad.mit.edu	37	5	76028217	76028217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:76028217G>A	ENST00000319211.4	+	2	432	c.167G>A	c.(166-168)tGg>tAg	p.W56*		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	56					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GAACCATTTTGGGAGGATGAG	0.353000													27	63					0	0	0.000279167	0	0
IQCF1	132141	broad.mit.edu	37	3	51928924	51928924	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:51928924G>A	ENST00000310914.5	-	4	662	c.600C>T	c.(598-600)ccC>ccT	p.P200P		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	200										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTATTGAGAAGGGAATACACT	0.488000													12	36					0	0	0.00010058	0	0
DARS2	55157	broad.mit.edu	37	1	173808592	173808592	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:173808592G>A	ENST00000361951.4	+	10	1655	c.928G>A	c.(928-930)Gat>Aat	p.D310N	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	310					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	p.D310H(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CAATGACAAAGATCCTGTGGT	0.433000													28	52					0	0	0.000878237	0	0
KRT82	3888	broad.mit.edu	37	12	52793820	52793820	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:52793820G>A	ENST00000257974.2	-	5	968	c.891C>T	c.(889-891)gaC>gaT	p.D297D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	297	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGGCGATGTCGTCATACTGCG	0.602000													6	95					0	0	8.12818e-05	0	0
POTEM	641455	broad.mit.edu	37	14	20020012	20020012	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:20020012G>A	ENST00000551509.1	-	1	260	c.209C>T	c.(208-210)cCc>cTc	p.P70L		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	70										endometrium(4)|kidney(1)|lung(4)	9						CCTGCACCAGGGGAAGCAGTG	0.592000													59	328					0	0	0.000781405	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993839	140993839	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:140993839T>C	ENST00000285879.4	+	4	935	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	217							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCAGAGTTCCCCTGAGAG	0.493000										HNSCC(15;0.026)			9	205					0	0	0.000566183	0	0
GLIS3	169792	broad.mit.edu	37	9	4286286	4286286	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:4286286G>A	ENST00000381971.3	-	2	733	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	637	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGTGGGACTCGATGTGCTGCC	0.607000													4	20					0	0	0.00024832	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921679	78921679	+	Missense_Mutation	SNP	G	G	A	rs146608683		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:78921679G>A	ENST00000261751.3	-	5	1079	c.968C>T	c.(967-969)tCg>tTg	p.S323L	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	323					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGTGCTGGGCGAGCGGTGGTG	0.612000													14	48					0	0	0.000422831	0	0
SMARCE1	6605	broad.mit.edu	37	17	38787946	38787946	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:38787946C>T	ENST00000348513.6	-	9	1495		c.e9-1		SMARCE1_ENST00000544009.1_Splice_Site|SMARCE1_ENST00000580419.1_Splice_Site|SMARCE1_ENST00000578044.1_Splice_Site|SMARCE1_ENST00000431889.2_Splice_Site|SMARCE1_ENST00000400122.3_Splice_Site|SMARCE1_ENST00000377808.4_Splice_Site|KRT222_ENST00000476049.1_Splice_Site	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1						chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				CTAGTTTTCGCTGCAAGACAG	0.348000													21	33					0	0	0.000229342	0	0
P2RX2	22953	broad.mit.edu	37	12	133197092	133197092	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:133197092G>A	ENST00000389110.3	+	7	734	c.697G>A	c.(697-699)Gac>Aac	p.D233N	P2RX2_ENST00000449132.2_Missense_Mutation_p.R197Q|P2RX2_ENST00000348800.5_Missense_Mutation_p.D233N|P2RX2_ENST00000352418.4_Missense_Mutation_p.D161N|P2RX2_ENST00000351222.4_Missense_Mutation_p.D141N|P2RX2_ENST00000350048.5_Missense_Mutation_p.D209N|P2RX2_ENST00000343948.4_Missense_Mutation_p.D233N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	233					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.D233N(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CGAGGCCTCCGACCTCTACTG	0.632000													19	41					0	0	0.000958276	0	0
CDH9	1007	broad.mit.edu	37	5	26903764	26903764	+	Silent	SNP	C	C	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:26903764C>G	ENST00000231021.4	-	6	1153	c.981G>C	c.(979-981)ggG>ggC	p.G327G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGTTATAATCCCTTCCTGTG	0.408000													60	99					0	0	0.000781405	0	0
ANK1	286	broad.mit.edu	37	8	41552695	41552695	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:41552695C>T	ENST00000396942.1	-	27	3198	c.3115_splice	c.e27+1	p.E1039_splice	ANK1_ENST00000396945.1_Splice_Site_p.E1039_splice|ANK1_ENST00000347528.4_Splice_Site_p.E1039_splice|ANK1_ENST00000352337.4_Splice_Site_p.E1039_splice|ANK1_ENST00000379758.2_Splice_Site_p.E1039_splice|ANK1_ENST00000265709.8_Splice_Site_p.E1080_splice|ANK1_ENST00000289734.7_Splice_Site_p.E1039_splice			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1039					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCGCCCCTACCTTCGTCCATC	0.592000													46	193					0	0	0.000781405	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556813	27556813	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:27556813A>C	ENST00000356183.4	-	2	268	c.253T>G	c.(253-255)Ttg>Gtg	p.L85V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L85V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	85						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTAGACTCCAAAATTCCAGTT	0.428000													13	21					0	0	0.00010058	0	0
LTBP2	4053	broad.mit.edu	37	14	75052732	75052732	+	Missense_Mutation	SNP	C	C	T	rs146027819		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:75052732C>T	ENST00000261978.4	-	3	1041	c.655G>A	c.(655-657)Gag>Aag	p.E219K	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E219K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	219	EGF-like 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ATGACCTCCTCGCAGCGGGCT	0.672000													8	9					0	0	0.000274275	0	0
OTOGL	283310	broad.mit.edu	37	12	80633179	80633179	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:80633179C>T	ENST00000458043.2	+	10	991	c.985C>T	c.(985-987)Cca>Tca	p.P329S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P329S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTATATCGATCCATACTTATA	0.358000													22	160					0	0	0.000878237	0	0
IDI1	3422	broad.mit.edu	37	10	1087215	1087215	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:1087215A>G	ENST00000381344.3	-	5	933	c.767T>C	c.(766-768)aTt>aCt	p.I256T	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	199					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CGCTGCAATAATTTTAAACCA	0.313000													27	30					0	0	0.000586117	0	0
BIRC6	57448	broad.mit.edu	37	2	32654243	32654243	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:32654243G>A	ENST00000421745.2	+	11	3036	c.2902G>A	c.(2902-2904)Gga>Aga	p.G968R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	968					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAATTGGAGGAACCTGTGA	0.333000													5	21					0	0	8.12818e-05	0	0
P2RY14	9934	broad.mit.edu	37	3	150931937	150931937	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:150931937G>A	ENST00000309170.3	-	3	480	c.168C>T	c.(166-168)ttC>ttT	p.F56F	P2RY14_ENST00000424796.2_Silent_p.F56F|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	56						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATAGATGATGAAACTCTTAG	0.443000													10	69					0	0	0.000978159	0	0
COL7A1	1294	broad.mit.edu	37	3	48613168	48613168	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:48613168C>T	ENST00000328333.8	-	72	5977	c.5870G>A	c.(5869-5871)cGg>cAg	p.R1957Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1925Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1957	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACGATCTCCCGCAGGGCAGA	0.682000													9	21					0	0	0.000442599	0	0
IPO13	9670	broad.mit.edu	37	1	44432202	44432202	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:44432202C>T	ENST00000372339.3	+	1	592	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	IPO13_ENST00000372343.3_Intron			O94829	IPO13_HUMAN	importin 13	0					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGGGATGGTCCTTGGAGCTGG	0.607000													5	21					0	0	0.000602214	0	0
DHX57	90957	broad.mit.edu	37	2	39046275	39046275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:39046275C>T	ENST00000295373.6	-	18	3429	c.3303G>A	c.(3301-3303)tgG>tgA	p.W1101*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1101							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTTTTTTATCCCAGGGAGATA	0.393000													11	38					0	0	0.000978159	0	0
FBXO42	54455	broad.mit.edu	37	1	16577664	16577664	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:16577664G>A	ENST00000375592.3	-	10	1871	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	552										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGCACCTGGGGAGACGGCCCC	0.592000													11	48					0	0	0.000978159	0	0
UNC13A	23025	broad.mit.edu	37	19	17760345	17760345	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:17760345C>T	ENST00000428389.2	-	14	1754	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	UNC13A_ENST00000552293.1_Silent_p.R497R|UNC13A_ENST00000551649.1_Silent_p.R497R|UNC13A_ENST00000550896.1_Silent_p.R497R|UNC13A_ENST00000519716.2_Silent_p.R497R|UNC13A_ENST00000252773.7_Silent_p.R497R			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	497					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGATAGGTTTCCTCTTGCGGA	0.572000													23	61					0	0	0.000586117	0	0
GPR142	350383	broad.mit.edu	37	17	72366722	72366722	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:72366722G>A	ENST00000335666.4	+	3	469	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	141						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCAGGAGTTTGAAAGCCACTG	0.637000													6	35					0	0	8.12818e-05	0	0
ARMC12	221481	broad.mit.edu	37	6	35705030	35705030	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:35705030T>G	ENST00000373866.3	+	1	167	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ARMC12_ENST00000288065.2_Missense_Mutation_p.S49A|ARMC12_ENST00000373869.3_Missense_Mutation_p.S49A			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	49							binding										CTGTAGCAACTCACCCATCTG	0.637000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	0.000274275	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036200	57036200	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:57036200G>A	ENST00000371149.3	-	4	1382	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	APCDD1L_ENST00000439429.1_Silent_p.A395A|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	384						integral to membrane		p.A384A(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCATGGACCAGGCCCCCGCAC	0.627000													15	49					0	0	0.000132079	0	0
OR2T10	127069	broad.mit.edu	37	1	248756773	248756773	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:248756773G>A	ENST00000330500.2	-	1	327	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTACATCTGGGTGCCACACC	0.522000													8	20					0	0	0.000442599	0	0
LAMB4	22798	broad.mit.edu	37	7	107756507	107756507	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:107756507G>A	ENST00000388781.3	-	3	217	c.134C>T	c.(133-135)gCt>gTt	p.A45V	LAMB4_ENST00000388780.3_Missense_Mutation_p.A45V|LAMB4_ENST00000205386.4_Missense_Mutation_p.A45V|LAMB4_ENST00000414450.2_Missense_Mutation_p.A45V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	45	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTAGAAGAAGCCATAAGCTG	0.512000													24	102					0	0	0.000375601	0	0
KCND2	3751	broad.mit.edu	37	7	120387884	120387884	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:120387884G>A	ENST00000331113.4	+	6	2830	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	622					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TACTCAGGAGGAAATATTGTC	0.423000													5	28					0	0	3.59834e-05	0	0
ALMS1	7840	broad.mit.edu	37	2	73762047	73762047	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:73762047C>T	ENST00000264448.6	+	12	9986	c.9875C>T	c.(9874-9876)tCa>tTa	p.S3292L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3250L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3292					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATTCCAAATCAGATACCACC	0.358000													46	156					0	0	0.000781405	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36273350	36273350	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:36273350C>T	ENST00000007510.4	+	13	1305	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ARHGAP33_ENST00000314737.5_Silent_p.S387S|ARHGAP33_ENST00000378944.5_Silent_p.S251S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	387	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCGTGTCCTCCCTCTGCAAGC	0.597000													9	52					0	0	0.000274275	0	0
VPS13D	55187	broad.mit.edu	37	1	12359375	12359375	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:12359375G>A	ENST00000358136.3	+	25	6280	c.6150G>A	c.(6148-6150)ggG>ggA	p.G2050G	VPS13D_ENST00000356315.4_Silent_p.G2050G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2050					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAATTTGGGGAAGTTGAAAG	0.428000													31	58					0	0	0.000491102	0	0
NOL4	8715	broad.mit.edu	37	18	31463336	31463336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:31463336G>A	ENST00000261592.5	-	10	1892	c.1595C>T	c.(1594-1596)aCt>aTt	p.T532I	NOL4_ENST00000535475.1_Missense_Mutation_p.T313I|NOL4_ENST00000589544.1_Missense_Mutation_p.T430I|NOL4_ENST00000269185.4_Missense_Mutation_p.T316I|NOL4_ENST00000535384.1_Missense_Mutation_p.T247I|NOL4_ENST00000538587.1_Missense_Mutation_p.T458I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	532						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGTTGAGTAAGTGGCCTGGGT	0.493000													18	65					0	0	0.000566183	0	0
MAN1C1	57134	broad.mit.edu	37	1	26107603	26107603	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:26107603G>A	ENST00000374332.4	+	10	1980	c.1650_splice	c.e10+1	p.L550_splice	MAN1C1_ENST00000374329.1_Splice_Site_p.L321_splice|MAN1C1_ENST00000263979.3_Splice_Site_p.L370_splice	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	550					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGGTGGTGCTGGTGAGTGGGC	0.622000													10	43					0	0	0.00010058	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466015	160466015	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:160466015G>A	ENST00000368059.3	-	2	287	c.218C>T	c.(217-219)cCa>cTa	p.P73L	SLAMF6_ENST00000368057.3_Missense_Mutation_p.P73L|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	73						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTGGATTTCTGGACTTTTGGT	0.478000													23	116					0	0	0.000375601	0	0
ADRA2B	151	broad.mit.edu	37	2	96781056	96781056	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:96781056G>A	ENST00000409345.3	-	1	928	c.833C>T	c.(832-834)cCc>cTc	p.P278L		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	278					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCCTGAGTTGGGAAGGGCAGC	0.617000													6	8					0	0	3.59834e-05	0	0
OR10A2	341276	broad.mit.edu	37	11	6891672	6891672	+	Silent	SNP	C	C	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:6891672C>G	ENST00000307322.4	+	1	749	c.687C>G	c.(685-687)tcC>tcG	p.S229S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTACATGTTCCTCACACCTCC	0.433000													57	111					0	0	0.000781405	0	0
DOCK10	55619	broad.mit.edu	37	2	225739009	225739009	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:225739009G>A	ENST00000409592.3	-	10	1170	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	DOCK10_ENST00000258390.7_Silent_p.L359L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	359							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGAGAGAACAGATTTAGCCTC	0.333000													8	22					0	0	0.00010058	0	0
MRPS18C	51023	broad.mit.edu	37	4	84379500	84379500	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:84379500C>T	ENST00000295491.4	+	3	265	c.150_splice	c.e3-1	p.P51_splice	MRPS18C_ENST00000507019.1_Intron|MRPS18C_ENST00000507349.1_Intron	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	51					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTTCCCTAGCCCATTTCAATG	0.303000													5	43					0	0	3.59834e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963631	73963631	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:73963631G>A	ENST00000373468.1	-	3	1412	c.761C>T	c.(760-762)tCc>tTc	p.S254F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S254F			Q5QGS0	K2022_HUMAN	KIAA2022	254					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATCCTGATTGGAATTTGCAAG	0.403000													19	134					0	0	0.000958276	0	0
OR6C76	390326	broad.mit.edu	37	12	55820040	55820040	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55820040G>A	ENST00000328314.3	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATCAGAAATGAAAAATAGAA	0.348000													14	52					0	0	0.000151284	0	0
LRRC27	80313	broad.mit.edu	37	10	134161692	134161692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:134161692G>A	ENST00000392638.2	+	6	953	c.758G>A	c.(757-759)tGg>tAg	p.W253*	LRRC27_ENST00000368613.4_Nonsense_Mutation_p.W253*|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.W253*|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.W253*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.W191*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.W191*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.W126*|LRRC27_ENST00000368615.3_Nonsense_Mutation_p.W253*			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	253										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCAGAGAACTGGCCCAGCGAG	0.562000													13	28					0	0	0.000308642	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834239	125834239	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:125834239C>T	ENST00000299308.3	+	2	302	c.294C>T	c.(292-294)ccC>ccT	p.P98P	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	98						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGATAATCCCCCAGGAGCTCC	0.498000													32	98					0	0	0.000491102	0	0
DNAH3	55567	broad.mit.edu	37	16	20986677	20986677	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:20986677C>T	ENST00000261383.3	-	51	8136	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2713	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGGCAGTTTCCTCGGAGGTG	0.488000													82	144					0	0	0.000781405	0	0
DLG2	1740	broad.mit.edu	37	11	84245701	84245701	+	Missense_Mutation	SNP	G	G	A	rs145869624		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:84245701G>A	ENST00000398309.2	-	2	586	c.116C>T	c.(115-117)cCa>cTa	p.P39L	DLG2_ENST00000543673.1_Missense_Mutation_p.P144L|DLG2_ENST00000532653.1_Missense_Mutation_p.P39L|DLG2_ENST00000524982.1_Missense_Mutation_p.P39L|DLG2_ENST00000376104.2_Missense_Mutation_p.P144L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	39						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACGAGTTCTGGGCCTCTTAC	0.408000													30	58					0	0	0.000279167	0	0
ZNF813	126017	broad.mit.edu	37	19	53994678	53994678	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:53994678C>T	ENST00000396403.4	+	4	1320	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGAGTTAACCCTTAAATGCCA	0.413000													9	74					0	0	0.000274275	0	0
C7	730	broad.mit.edu	37	5	40936531	40936531	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:40936531G>A	ENST00000313164.9	+	5	731	c.372G>A	c.(370-372)agG>agA	p.R124R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	124	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACTCAGAAAGGAGACCTTCCT	0.458000													15	21					0	0	0.000308642	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478141	106478141	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:106478141G>A	ENST00000390596.2	-	0	380																											CGTGTCCGCGGCGGTCACAGA	0.602000													6	124					0	0	0.000175454	0	0
MORC1	27136	broad.mit.edu	37	3	108751602	108751602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:108751602C>T	ENST00000232603.5	-	16	1612	c.1530G>A	c.(1528-1530)tgG>tgA	p.W510*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.W510*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	510					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAGCACAAATCCAAATGTCAA	0.284000													13	51					0	0	0.000308642	0	0
RIPK2	8767	broad.mit.edu	37	8	90782122	90782122	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:90782122A>C	ENST00000220751.4	+	4	920	c.606A>C	c.(604-606)caA>caC	p.Q202H	RIPK2_ENST00000540020.1_Missense_Mutation_p.Q65H	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	202	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			AACCTGGACAAAAATCAAGGG	0.418000													16	191					0	0	0.000308642	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923959	154923959	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:154923959C>A	ENST00000368463.3	-	4	302	c.231G>T	c.(229-231)gaG>gaT	p.E77D	PBXIP1_ENST00000368465.1_Missense_Mutation_p.E48D|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.E77D|PBXIP1_ENST00000498553.1_5'UTR	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	77					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGACCTCAGTCTCCTCTGTTA	0.567000													27	65					2.48696e-23	2.597e-22	0.00058488	1	0
ATRN	8455	broad.mit.edu	37	20	3543973	3543973	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:3543973C>T	ENST00000262919.5	+	10	1817	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	ATRN_ENST00000446916.2_Silent_p.A583A	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	583					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCATGGCGCCAAATGCTTCT	0.428000													36	100					0	0	0.00111076	0	0
CEP250	11190	broad.mit.edu	37	20	34090779	34090779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:34090779C>T	ENST00000397527.1	+	30	5302	c.4582C>T	c.(4582-4584)Ctt>Ttt	p.L1528F	CEP250_ENST00000342580.4_Missense_Mutation_p.L1472F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1528	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGCATCAGCTTCTAGAACT	0.532000													19	33					0	0	0.00074312	0	0
DNAH11	8701	broad.mit.edu	37	7	21892165	21892165	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:21892165G>A	ENST00000328843.6	+	68	11029	c.10998G>A	c.(10996-10998)gcG>gcA	p.A3666A	DNAH11_ENST00000409508.3_Silent_p.A3659A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3666	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCTTTCTGCGGCAGAGGGAA	0.448000									Kartagener syndrome				37	72					0	0	0.000692331	0	0
DCST1	149095	broad.mit.edu	37	1	155023108	155023108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:155023108G>A	ENST00000295542.1	+	17	1981	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	DCST1_ENST00000423025.2_Missense_Mutation_p.D604N	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	629						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCGCTGGCGGATATCCTGCA	0.706000											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5					0	0	0.00024832	0	0
CXorf23	256643	broad.mit.edu	37	X	19983691	19983691	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:19983691C>T	ENST00000379687.3	-	3	778	c.745G>A	c.(745-747)Gag>Aag	p.E249K	CXorf23_ENST00000356980.3_Missense_Mutation_p.E249K|CXorf23_ENST00000379682.4_Missense_Mutation_p.E249K	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	249						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTGTGTCCTCTTGGTAAGGT	0.507000													8	70					0	0	0.000274275	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567893	99567893	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:99567893C>T	ENST00000331335.5	-	5	3097	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.G876E|FILIP1L_ENST00000383694.2_Missense_Mutation_p.G636E|FILIP1L_ENST00000471562.1_Missense_Mutation_p.G636E|FILIP1L_ENST00000487087.1_Missense_Mutation_p.G452E	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	876						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGCATTTTTCCATTCTGAAG	0.463000													55	123					0	0	0.000781405	0	0
OR10A7	121364	broad.mit.edu	37	12	55615123	55615123	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55615123C>T	ENST00000326258.1	+	1	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ACTTCTTCTTCTTCTTTGGCA	0.423000													26	124					0	0	0.000491102	0	0
POLR3E	55718	broad.mit.edu	37	16	22334249	22334249	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:22334249C>T	ENST00000299853.5	+	14	1232	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	POLR3E_ENST00000564209.1_Silent_p.F355F|POLR3E_ENST00000418581.2_Silent_p.F319F|POLR3E_ENST00000359210.4_Silent_p.F355F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	355					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCCGAGACTTCGTTGTAAGTA	0.642000													8	8					0	0	0.000274275	0	0
LHCGR	3973	broad.mit.edu	37	2	48914908	48914908	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:48914908G>A	ENST00000294954.7	-	11	2049	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Silent_p.S649S|LHCGR_ENST00000344775.3_Silent_p.S614S|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	676					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTCAAGGTGGATTGAGAAG	0.418000													47	81					0	0	0.000781405	0	0
PCYT2	5833	broad.mit.edu	37	17	79864637	79864637	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:79864637G>A	ENST00000538936.2	-	7	783	c.676_splice	c.e7+1	p.F225_splice	PCYT2_ENST00000331285.3_Splice_Site_p.F147_splice|PCYT2_ENST00000571105.1_Splice_Site_p.F225_splice|PCYT2_ENST00000538721.2_Splice_Site_p.F243_splice|PCYT2_ENST00000570391.1_Splice_Site_p.F193_splice|PCYT2_ENST00000570388.1_Splice_Site_p.F147_splice	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	225	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGAGGATACGGAACAGGTCGA	0.612000													6	31					0	0	8.12818e-05	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173029	173029	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:173029G>A	ENST00000283426.6	+	15	3050	c.3000G>A	c.(2998-3000)caG>caA	p.Q1000Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1000	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGAAGGAACAGGGGCAGCTGA	0.498000													31	64					0	0	0.000814825	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212502539	212502539	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:212502539T>C	ENST00000261461.2	+	2	818	c.244T>C	c.(244-246)Ttt>Ctt	p.F82L	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.F25L|RP11-384C4.7_ENST00000442146.1_RNA|PPP2R5A_ENST00000498129.1_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	82					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGTATACTGTTTGATTTCAT	0.328000													15	32					0	0	0.000958276	0	0
CTNNB1	1499	broad.mit.edu	37	3	41278184	41278184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:41278184C>T	ENST00000349496.5	+	13	2340	c.2060C>T	c.(2059-2061)cCa>cTa	p.P687L	CTNNB1_ENST00000396183.3_Missense_Mutation_p.P687L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P687L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P687L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P680L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	687					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGAACAGAGCCAATGGCTTGG	0.443000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				31	81					0	0	0.00058488	0	0
STMN2	11075	broad.mit.edu	37	8	80567129	80567129	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:80567129A>T	ENST00000220876.7	+	4	694	c.312A>T	c.(310-312)aaA>aaT	p.K104N	STMN2_ENST00000518111.1_Missense_Mutation_p.K104N|STMN2_ENST00000518491.1_Missense_Mutation_p.K93N	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	104					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AGGTGCTGAAACAATTGGCAG	0.483000													9	20					0	0	0.000442599	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277001	71277001	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:71277001G>A	ENST00000398531.1	+	1	393	c.368G>A	c.(367-369)gGc>gAc	p.G123D	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.G75D	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	123	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAAAGGTGGCTGTGGTTCC	0.657000													14	89					0	0	0.000958276	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748260	19748260	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:19748260C>T	ENST00000400113.3	-	5	1200	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	366					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCCAGGTCTCCCCCAGGGACC	0.587000													12	38					0	0	0.000219431	0	0
PCNA	5111	broad.mit.edu	37	20	5099424	5099424	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:5099424C>T	ENST00000379160.3	-	3	552	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PCNA_ENST00000379143.5_Missense_Mutation_p.E104K	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	104					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CTTGGTGCTTCAAATACTAGC	0.413000								DNA polymerases (catalytic subunits)					78	198					0	0	0.000781405	0	0
ALYREF	10189	broad.mit.edu	37	17	79846180	79846180	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:79846180C>T	ENST00000331204.4	-	5	722	c.696G>A	c.(694-696)agG>agA	p.R232R	ALYREF_ENST00000505490.2_Silent_p.R239R	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	232					intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										GCTTTGAATTCCTGCCGGCAC	0.642000													7	19					0	0	8.12818e-05	0	0
NUP210L	91181	broad.mit.edu	37	1	154061998	154061998	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:154061998G>A	ENST00000368559.3	-	16	2331	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R754C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	754						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAAATGAAGCGAACCTGCAAA	0.498000													47	89					0	0	0.000781405	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125844480	125844480	+	Silent	SNP	T	T	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:125844480T>G	ENST00000393434.2	-	15	2128	c.1779A>C	c.(1777-1779)acA>acC	p.T593T	ALDH1L1_ENST00000273450.3_Silent_p.T603T|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Silent_p.T492T|ALDH1L1_ENST00000472186.1_Silent_p.T593T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	593	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGATCACCACTGTGTTCCCGG	0.567000													13	74					0	0	0.000308642	0	0
OR7G3	390883	broad.mit.edu	37	19	9236999	9236999	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9236999G>A	ENST00000305444.2	-	1	627	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAGAGAGAGGAACAACACCT	0.433000													11	85					0	0	0.000673444	0	0
GPR18	2841	broad.mit.edu	37	13	99907337	99907337	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:99907337A>G	ENST00000340807.3	-	3	1346	c.790T>C	c.(790-792)Tac>Cac	p.Y264H	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.Y264H|GPR18_ENST00000397473.2_Missense_Mutation_p.Y264H|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	264						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CAGGGATTGTAACTGTTCTCC	0.498000													13	92					0	0	0.000308642	0	0
GDF10	2662	broad.mit.edu	37	10	48429199	48429199	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:48429199C>T	ENST00000224605.2	-	2	952	c.687G>A	c.(685-687)gaG>gaA	p.E229E		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	229					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCGGGTCCCTCTCCTCAGAAT	0.687000													6	7					0	0	3.59834e-05	0	0
GRIA1	2890	broad.mit.edu	37	5	153030000	153030000	+	Missense_Mutation	SNP	G	G	A	rs138865459		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:153030000G>A	ENST00000285900.5	+	4	914	c.571G>A	c.(571-573)Gac>Aac	p.D191N	GRIA1_ENST00000521843.2_Missense_Mutation_p.D122N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D201N|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.D191N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D111N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D201N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	191					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTCTTTCAGGACCTGGAGAA	0.532000													24	70					0	0	0.000586117	0	0
EPPIN	57119	broad.mit.edu	37	20	44171498	44171498	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:44171498C>T	ENST00000354280.4	-	3	298	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.E78K|EPPIN_ENST00000409554.1_Intron|EPPIN_ENST00000555685.1_Missense_Mutation_p.E78K|EPPIN_ENST00000336443.3_Missense_Mutation_p.E62K	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor									p.E62K(2)									TTTGGCATTTCGCATACATCT	0.428000													10	52					0	0	0.000978159	0	0
DSG2	1829	broad.mit.edu	37	18	29104710	29104710	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:29104710G>A	ENST00000261590.8	+	8	1082	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	291	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TAGAAGTTACGCGCATAAAAG	0.333000													12	41					0	0	0.000151284	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310383	178310383	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:178310383G>C	ENST00000322434.3	+	5	1156	c.930G>C	c.(928-930)agG>agC	p.R310S		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGTCGAAGGTCTGGGCTTT	0.413000													9	52					0	0	0.000274275	0	0
ZNF341	84905	broad.mit.edu	37	20	32344993	32344993	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:32344993C>A	ENST00000375200.1	+	6	1146	c.781C>A	c.(781-783)Ccc>Acc	p.P261T	ZNF341_ENST00000342427.2_Missense_Mutation_p.P261T			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						ATATCCCACCCCCACAGTGTA	0.612000													43	157					1.23713e-20	1.28902e-19	0.000781405	1	0
F11R	50848	broad.mit.edu	37	1	160970879	160970879	+	Missense_Mutation	SNP	G	G	A	rs149683377		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:160970879G>A	ENST00000368026.6	-	3	446	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.P58S|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	58	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TCCACACGGGGAGAAGAAAAG	0.502000													12	33					0	0	0.000308642	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175450	140175450	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:140175450G>A	ENST00000526136.1	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E301K|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E301K	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCAGGGGAAATCAGAAC	0.433000													21	36					0	0	0.000295444	0	0
ZNF561	93134	broad.mit.edu	37	19	9724727	9724727	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9724727C>T	ENST00000302851.3	-	5	657	c.294G>A	c.(292-294)ttG>ttA	p.L98L	ZNF561_ENST00000354661.4_Intron|ZNF561_ENST00000424629.1_Silent_p.L29L|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000326044.5_Intron	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TTTGATTCTTCAAAAAACCCT	0.323000													20	84					0	0	0.000375601	0	0
ZNF536	9745	broad.mit.edu	37	19	30934830	30934830	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:30934830G>A	ENST00000355537.3	+	2	508	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGCGACATCGAGGACGACGC	0.642000													11	18					0	0	0.000978159	0	0
TET3	200424	broad.mit.edu	37	2	74328040	74328040	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:74328040C>T	ENST00000409262.3	+	9	3720	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1240							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCCCTACTCCACTCAGTGT	0.632000													4	9					0	0	0.000602214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690630	77690630	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:77690630C>T	ENST00000521891.2	+	4	3728	c.3280C>T	c.(3280-3282)Ctc>Ttc	p.L1094F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1068F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1068F|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1068F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1068						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGGACAACCTCAGTGAGAT	0.532000										HNSCC(33;0.089)			96	123					0	0	0.000781405	0	0
SPEG	10290	broad.mit.edu	37	2	220356953	220356953	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:220356953C>T	ENST00000312358.7	+	40	9714	c.9582C>T	c.(9580-9582)ttC>ttT	p.F3194F	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3194	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCACCCTCTTCTTGCGAAAGG	0.602000													20	36					0	0	0.000375601	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611595	6611595	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:6611595G>A	ENST00000285599.3	+	13	2113	c.2077G>A	c.(2077-2079)Ggg>Agg	p.G693R	MAN2B2_ENST00000504248.1_Missense_Mutation_p.G642R|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	693					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGGCCATGACGGGGAGCTGCT	0.592000													9	37					0	0	0.000274275	0	0
CPO	130749	broad.mit.edu	37	2	207814428	207814428	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:207814428C>T	ENST00000272852.3	+	2	202	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	52					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TATACCACCCCATGGGAGAGG	0.468000													18	37					0	0	0.000958276	0	0
SS18L1	26039	broad.mit.edu	37	20	60733767	60733767	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:60733767G>A	ENST00000331758.3	+	2	135	c.109G>A	c.(109-111)Gag>Aag	p.E37K	SS18L1_ENST00000421564.1_Missense_Mutation_p.E37K	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	37	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GTGCATCCTGGAGTACCAGAG	0.632000			T	SSX1	synovial sarcoma								13	35					0	0	0.00010058	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965875	35965875	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:35965875G>A	ENST00000274278.3	-	4	813	c.456C>T	c.(454-456)ttC>ttT	p.F152F	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.F118F|UGT3A1_ENST00000503189.1_Silent_p.F152F|UGT3A1_ENST00000333811.4_Silent_p.F98F	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	152						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAATCAGGAAAGAACAGA	0.398000													18	38					0	0	0.000132079	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166923790	166923790	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:166923790G>A	ENST00000510118.1	-	6	769	c.429C>T	c.(427-429)caC>caT	p.H143H	RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000481261.2_Silent_p.H29H|RPS6KA2_ENST00000405189.3_Silent_p.H29H|RPS6KA2_ENST00000503859.1_Silent_p.H126H|RPS6KA2_ENST00000265678.4_Silent_p.H118H			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	118	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CAATGAAGGGGTGATTCACTT	0.408000													10	29					0	0	0.000442599	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601867	138601867	+	Silent	SNP	A	A	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:138601867A>G	ENST00000440172.1	-	2	2553	c.2505T>C	c.(2503-2505)ggT>ggC	p.G835G	KIAA1549_ENST00000242365.4_Silent_p.G785G|KIAA1549_ENST00000422774.1_Silent_p.G835G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	835						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCAACACCGTACCAGTGGGAA	0.547000			O	BRAF	pilocytic astrocytoma								14	25					0	0	0.000151284	0	0
MAP3K10	4294	broad.mit.edu	37	19	40721043	40721043	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:40721043C>T	ENST00000253055.3	+	10	2997	c.2709C>T	c.(2707-2709)tcC>tcT	p.S903S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	903					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AACTGGTCTCCTTCGGCCGGA	0.701000													6	7					0	0	8.12818e-05	0	0
ACOXL	55289	broad.mit.edu	37	2	111666435	111666435	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:111666435G>A	ENST00000389811.4	+	11	1082	c.858G>A	c.(856-858)cgG>cgA	p.R286R	ACOXL_ENST00000439055.1_Silent_p.R286R			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	286					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGACCCTGCGGCTGATGCCCC	0.547000													34	52					0	0	0.00111076	0	0
ASL	435	broad.mit.edu	37	7	65557819	65557819	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:65557819G>T	ENST00000304874.9	+	17	1417	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S	ASL_ENST00000380839.4_Missense_Mutation_p.A413S|ASL_ENST00000395331.3_Missense_Mutation_p.A419S|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.A439S	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	439					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCAGTATGGTGCCCTGGGCGG	0.697000													26	56					2.48779e-11	2.58075e-10	0.000878237	1	0
DNPH1	10591	broad.mit.edu	37	6	43193826	43193826	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:43193826C>T	ENST00000393987.2	-	3	342	c.321G>A	c.(319-321)cgG>cgA	p.R107R	DNPH1_ENST00000230431.6_Silent_p.R107R	NM_199184.1	NP_954653.1			2'-deoxynucleoside 5'-phosphate N-hydrolase 1																		AGGCCACGGCCCGGCCCAGCT	0.622000													7	21					0	0	0.000274275	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48906503	48906503	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:48906503C>T	ENST00000394754.1	+	11	3585	c.3471C>T	c.(3469-3471)ttC>ttT	p.F1157F	STON1-GTF2A1L_ENST00000405008.1_Silent_p.F1157F|GTF2A1L_ENST00000403751.3_Silent_p.F453F|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Silent_p.F1110F|GTF2A1L_ENST00000430487.2_Silent_p.F419F|STON1-GTF2A1L_ENST00000309827.2_Silent_p.F1157F	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1110					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGGAAATTCTATTTGAAAG	0.368000													34	70					0	0	0.000270559	0	0
ECM2	1842	broad.mit.edu	37	9	95277109	95277109	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:95277109C>T	ENST00000344604.5	-	4	1007	c.858G>A	c.(856-858)gaG>gaA	p.E286E	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.E264E	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	286					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcgtcctcctcatcctcct	0.632000													19	30					0	0	0.000132079	0	0
THAP6	152815	broad.mit.edu	37	4	76452300	76452300	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:76452300C>T	ENST00000311638.3	+	5	613	c.545C>T	c.(544-546)tCa>tTa	p.S182L	THAP6_ENST00000502620.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.S140L|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000514480.1_Missense_Mutation_p.S182L|THAP6_ENST00000507885.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	182						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTCAGAAATCATTGAGGAAG	0.398000													7	28					0	0	0.000274275	0	0
EBF2	64641	broad.mit.edu	37	8	25747344	25747344	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:25747344C>T	ENST00000520164.1	-	8	1212	c.675G>A	c.(673-675)ctG>ctA	p.L225L	EBF2_ENST00000408929.3_Silent_p.L77L	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	225					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAGAAACAGCCAGGACGTGTC	0.463000													22	56					0	0	0.000229342	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337325	6337325	+	RNA	SNP	G	G	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:6337325G>T	ENST00000507444.1	-	0	80					NR_028351.1																						AGTCCCTGGAGAGCAGCAGGG	0.532000													9	76					0.000673444	0.00685055	0.000673444	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781415	128781415	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:128781415G>A	ENST00000529694.1	+	2	623	c.247G>A	c.(247-249)Gac>Aac	p.D83N	KCNJ5_ENST00000533599.1_Missense_Mutation_p.D83N|KCNJ5_ENST00000338350.4_Missense_Mutation_p.D83N	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	83					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CACCCTGGTGGACCTCAAGTG	0.557000													18	63					0	0	0.000958276	0	0
ENPP3	5169	broad.mit.edu	37	6	131973708	131973708	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:131973708C>T	ENST00000414305.1	+	5	632	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ENPP3_ENST00000427148.2_Missense_Mutation_p.R68C|ENPP3_ENST00000358229.5_Missense_Mutation_p.R102C|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R102C|ENPP3_ENST00000543135.1_Missense_Mutation_p.R68C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	102	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R102C(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAATAAATTTCGTTGTGGAGA	0.378000													10	43					0	0	0.000151284	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889319	112889319	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:112889319G>A	ENST00000161863.4	+	14	2113	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E634K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	634	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E634K(2)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGGATATGACGAAATTGTTGG	0.363000													19	68					0	0	0.000229342	0	0
OR5H15	403274	broad.mit.edu	37	3	97888274	97888274	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:97888274A>G	ENST00000356526.2	+	1	731	c.731A>G	c.(730-732)cAt>cGt	p.H244R		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGTGGAGCCCATCTCTTCTCT	0.423000													14	73					0	0	0.000566183	0	0
TTC13	79573	broad.mit.edu	37	1	231056330	231056330	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:231056330G>A	ENST00000366661.4	-	17	1916	c.1909C>T	c.(1909-1911)Cct>Tct	p.P637S	TTC13_ENST00000414259.1_Missense_Mutation_p.P584S|TTC13_ENST00000366662.4_Missense_Mutation_p.P584S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	637							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AATCCTTTAGGATTATTAGCT	0.353000													50	81					0	0	0.000781405	0	0
KDM7A	80853	broad.mit.edu	37	7	139799824	139799824	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:139799824C>T	ENST00000397560.2	-	13	1736		c.e13-1		JHDM1D_ENST00000006967.5_Splice_Site	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN							midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TCAAGATGTCCTGAAGGTATA	0.448000													21	40					0	0	0.00047179	0	0
RFESD	317671	broad.mit.edu	37	5	94990055	94990055	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:94990055A>G	ENST00000458310.1	+	5	1684	c.353A>G	c.(352-354)cAt>cGt	p.H118R	RFESD_ENST00000311364.4_Missense_Mutation_p.H65R|RFESD_ENST00000380005.4_Missense_Mutation_p.H118R|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000513950.2_Intron	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	65	Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity			autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		GGACCTTTACATTTGGGAGAT	0.249000													22	79					0	0	0.000586117	0	0
RYR3	6263	broad.mit.edu	37	15	34040353	34040353	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:34040353G>A	ENST00000389232.4	+	54	8098	c.8028G>A	c.(8026-8028)ctG>ctA	p.L2676L	RYR3_ENST00000415757.3_Silent_p.L2676L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2676	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAGTCCCTGAAAACCATGC	0.527000													27	75					0	0	0.000339439	0	0
ITGA8	8516	broad.mit.edu	37	10	15573141	15573141	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:15573141C>T	ENST00000378076.3	-	28	3243	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	964					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCATAGGGATCATTTTTTCTC	0.338000													23	27					0	0	0.000720815	0	0
C7orf33	202865	broad.mit.edu	37	7	148311286	148311286	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:148311286C>T	ENST00000307003.2	+	2	718	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	119										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCAGGATGGGCTTGTCCTCAG	0.522000													15	38					0	0	0.000308642	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882726	15882726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:15882726C>T	ENST00000285670.2	-	6	844	c.670G>A	c.(670-672)Gac>Aac	p.D224N	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.D156N	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	156					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGGCCATCGTCATCCAGTCGA	0.488000													10	41					0	0	0.000673444	0	0
LOXL4	84171	broad.mit.edu	37	10	100015377	100015377	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:100015377G>A	ENST00000260702.3	-	10	1698	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	516	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CGCCACCGTGGGAGCAGTGCA	0.687000													28	32					0	0	0.000227799	0	0
OR6C6	283365	broad.mit.edu	37	12	55688116	55688116	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55688116C>T	ENST00000358433.2	-	1	900	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGTAATACATCCCAGAAGACT	0.363000													16	50					0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9046505	9046505	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9046505G>A	ENST00000397910.4	-	5	35329	c.35126C>T	c.(35125-35127)tCc>tTc	p.S11709F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11711	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTACTATGGGAAAAACTGGA	0.512000													12	81					0	0	0.00010058	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702049	26702049	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:26702049G>A	ENST00000529632.2	+	6	1649	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	SEZ6L_ENST00000402979.1_Missense_Mutation_p.A258T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A258T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A485T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A485T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A485T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A485T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	485	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACGATTGAAGCTCCAGAGGG	0.552000													5	49					0	0	3.59834e-05	0	0
CLEC2B	9976	broad.mit.edu	37	12	10007020	10007020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:10007020G>A	ENST00000228438.2	-	4	1234	c.301C>T	c.(301-303)Cga>Tga	p.R101*	CLEC2B_ENST00000538152.1_Nonsense_Mutation_p.R32*	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	101	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGTCCTGTTCGATTTTTTGCC	0.358000													27	71					0	0	0.000339439	0	0
RNF213	57674	broad.mit.edu	37	17	78321975	78321975	+	Silent	SNP	G	G	A	rs144070062	byFrequency	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:78321975G>A	ENST00000582970.1	+	29	9983	c.9840G>A	c.(9838-9840)gcG>gcA	p.A3280A	RNF213_ENST00000508628.2_Silent_p.A3329A|RNF213_ENST00000336301.6_Silent_p.A1353A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTTCGCAGCGGAGTGGCTGT	0.617000													25	33					0	0	0.000720815	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539600	48539600	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:48539600G>A	ENST00000396577.3	+	13	1842	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	SLC12A1_ENST00000558405.1_Missense_Mutation_p.E543K|SLC12A1_ENST00000380993.3_Missense_Mutation_p.E543K	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	543					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAAAAACAATGAACCCCTGAG	0.338000													9	35					0	0	0.000442599	0	0
LILRA3	11026	broad.mit.edu	37	19	54803599	54803599	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:54803599C>T	ENST00000391745.1	-	7	592	c.276G>A	c.(274-276)caG>caA	p.Q92Q	LILRA3_ENST00000251390.3_Silent_p.Q75Q|LILRA3_ENST00000391744.3_Silent_p.Q75Q					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACAAGCTCCTGTGGGATCC	0.542000													18	77					0	0	0.000132079	0	0
IL27	246778	broad.mit.edu	37	16	28511054	28511054	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:28511054G>A	ENST00000356897.1	-	5	672	c.650C>T	c.(649-651)gCc>gTc	p.A217V		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	217					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CTCCCGCACGGCCCGAGATAA	0.662000													4	20					0	0	0.00024832	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:106573624G>A	ENST00000407775.2	+	4	585	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFPM2_ENST00000517361.1_5'UTR|ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000													36	40					0	0	0.000270559	0	0
STMN4	81551	broad.mit.edu	37	8	27098744	27098744	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:27098744C>A	ENST00000350889.4	-	5	339	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	STMN4_ENST00000522908.1_Missense_Mutation_p.D76Y|STMN4_ENST00000519614.1_Missense_Mutation_p.D49Y|STMN4_ENST00000265770.7_Missense_Mutation_p.D49Y|STMN4_ENST00000519997.1_Missense_Mutation_p.D40Y|STMN4_ENST00000523048.1_Missense_Mutation_p.D76Y	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	49					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ACTTCCATGTCGGAAATGACG	0.557000													13	52					0.000219431	0.00225156	0.000219431	1	0
RIPPLY3	53820	broad.mit.edu	37	21	38385891	38385891	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:38385891G>A	ENST00000329553.2	+	3	422	c.212G>A	c.(211-213)gGa>gAa	p.G71E	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GGATCAAAGGGAGCCTTTGGG	0.413000													6	26					0	0	0.000157383	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881249	228881249	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:228881249C>T	ENST00000392056.3	-	7	4367	c.4321G>A	c.(4321-4323)Ggg>Agg	p.G1441R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1441R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1441						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGGTTCCCCAGCACAGGCT	0.498000													28	42					0	0	0.000184323	0	0
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22382673C>T	ENST00000328795.4	+	1	292	c.201C>T	c.(199-201)gcC>gcT	p.A67A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483000													49	280					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179498794	179498794	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:179498794G>A	ENST00000589042.1	-	231	42656	c.42432C>T	c.(42430-42432)ttC>ttT	p.F14144F	TTN_ENST00000359218.5_Silent_p.F5204F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.F5079F|TTN_ENST00000342175.6_Silent_p.F5271F|TTN_ENST00000591111.1_Silent_p.F12503F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.F11576F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12503	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGTGACATGAATTTCAGTC	0.358000													19	59					0	0	0.00074312	0	0
BCAR3	8412	broad.mit.edu	37	1	94054934	94054934	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:94054934G>A	ENST00000370244.1	-	7	817	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	BCAR3_ENST00000370247.3_Missense_Mutation_p.R86C|BCAR3_ENST00000260502.6_Missense_Mutation_p.R177C|BCAR3_ENST00000370243.1_Missense_Mutation_p.R177C	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	177	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGAGAGTCACGAACTAGGAAG	0.488000													13	17					0	0	0.00074312	0	0
CDH7	1005	broad.mit.edu	37	18	63526247	63526247	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:63526247G>A	ENST00000536984.2	+	9	2153	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	CDH7_ENST00000323011.3_Missense_Mutation_p.E487K|CDH7_ENST00000397968.2_Missense_Mutation_p.E487K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	487	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CATGGACTATGAGACCACCGT	0.428000													22	71					0	0	0.000295444	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819591	159819591	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:159819591G>A	ENST00000497452.1	-	0	517																											CATTGTGAAGGAATCTGGAGG	0.428000													36	212					0	0	0.000692331	0	0
TENM1	10178	broad.mit.edu	37	X	123518064	123518064	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:123518064G>A	ENST00000422452.2	-	30	6780	c.6717C>T	c.(6715-6717)ggC>ggT	p.G2239G	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G2232G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCTGCAGCAGGCCATTAGAAT	0.463000													17	55					0	0	0.000422831	0	0
DENND2A	27147	broad.mit.edu	37	7	140285496	140285496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:140285496C>T	ENST00000275884.6	-	4	1555	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	DENND2A_ENST00000492720.1_Missense_Mutation_p.E380K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E380K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E380K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	380										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TAAGGGTTCTCCTTCATTGGC	0.483000													31	133					0	0	0.000692331	0	0
DMBX1	127343	broad.mit.edu	37	1	46977876	46977876	+	Missense_Mutation	SNP	G	G	A	rs142474862		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:46977876G>A	ENST00000371956.4	+	4	874	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	DMBX1_ENST00000360032.3_Missense_Mutation_p.E282K	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	287					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTCGTCCTTCGAAGTAGGGGG	0.652000													12	35					0	0	0.000978159	0	0
PTPRT	11122	broad.mit.edu	37	20	41076902	41076902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:41076902C>T	ENST00000373198.3	-	9	1753	c.1518G>A	c.(1516-1518)tgG>tgA	p.W506*	PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W506*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W506*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W506*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	506	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGAGGTTTCCACTGGATGT	0.483000													40	154					0	0	0.000781405	0	0
LRRC56	115399	broad.mit.edu	37	11	551696	551696	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:551696C>T	ENST00000270115.7	+	10	1342	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	281										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGAGCTGTCCCTGCCTGAG	0.697000													5	13					0	0	8.12818e-05	0	0
ADCY8	114	broad.mit.edu	37	8	131826344	131826344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:131826344G>A	ENST00000286355.5	-	14	4976	c.2884C>T	c.(2884-2886)Cat>Tat	p.H962Y	ADCY8_ENST00000377928.3_Missense_Mutation_p.H831Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	962					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCTAGGAAATGGCGGGCCACA	0.527000										HNSCC(32;0.087)			64	65					0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	2836224	2836224	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:2836224G>A	ENST00000520002.1	-	56	9034	c.8479C>T	c.(8479-8481)Cat>Tat	p.H2827Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.H2769Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2769Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2827Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2768Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2826Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2827	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTTGCAATGGTACAGGATA	0.478000													9	16					0	0	0.000442599	0	0
TEX11	56159	broad.mit.edu	37	X	69945158	69945158	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:69945158C>T	ENST00000395889.2	-	13	1079	c.924G>A	c.(922-924)atG>atA	p.M308I	TEX11_ENST00000374333.2_Missense_Mutation_p.M293I|TEX11_ENST00000344304.3_Missense_Mutation_p.M308I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	308							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGAGGATTTTCATTTTTAAGA	0.308000													31	96					0	0	0.000814825	0	0
NEO1	4756	broad.mit.edu	37	15	73536753	73536753	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:73536753C>T	ENST00000339362.5	+	10	1967	c.1520C>T	c.(1519-1521)aCc>aTc	p.T507I	NEO1_ENST00000558964.1_Missense_Mutation_p.T507I|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.T507I|NEO1_ENST00000261908.6_Missense_Mutation_p.T507I			Q92859	NEO1_HUMAN	neogenin 1	507	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATGCCAGCGACCGTGTACATC	0.458000													10	43					0	0	0.000978159	0	0
PGD	5226	broad.mit.edu	37	1	10471493	10471493	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:10471493G>A	ENST00000538557.1	+	7	743	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	PGD_ENST00000541529.1_Missense_Mutation_p.G158S|PGD_ENST00000270776.8_Missense_Mutation_p.G180S			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	180					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGAGGGAGCAGGCCACTTCGT	0.537000													6	23					0	0	8.12818e-05	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748012	64748012	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:64748012C>T	ENST00000536360.1	-	6	1688	c.875G>A	c.(874-876)gGa>gAa	p.G292E				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	292	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACAACGTTTCCTAGGCTGGA	0.353000													16	54					0	0	0.000958276	0	0
SNORD114-2	767578	broad.mit.edu	37	14	101418202	101418202	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:101418202G>A	ENST00000363953.1	+	0	10					NR_003194.1																						TGGGACCAATGATAATGACTG	0.328000													28	46					0	0	0.000184323	0	0
TRIM32	22954	broad.mit.edu	37	9	119461791	119461791	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:119461791C>T	ENST00000450136.1	+	2	1931	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Silent_p.I590I	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	590					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GTGATCTCATCGTGGCTGACA	0.537000													28	36					0	0	0.000184323	0	0
STAT4	6775	broad.mit.edu	37	2	191898252	191898252	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:191898252C>T	ENST00000392320.2	-	20	2130	c.1816G>A	c.(1816-1818)Gga>Aga	p.G606R	STAT4_ENST00000358470.4_Missense_Mutation_p.G606R	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	606	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAAGTTATTCCTCCGAGATGG	0.378000													22	47					0	0	0.000229342	0	0
BAGE2	85319	broad.mit.edu	37	21	11098747	11098747	+	RNA	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:11098747C>T	ENST00000470054.1	-	0	178									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcttactgctccagccccact	0.627000													14	168					0	0	0.000422831	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	61					0	0	0.00106085	0	0
KDM3B	51780	broad.mit.edu	37	5	137727397	137727397	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:137727397C>T	ENST00000314358.5	+	8	2276	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	KDM3B_ENST00000394866.1_Silent_p.L348L|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	692	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGAAACCCCTCTTCATTACAA	0.562000													21	53					0	0	0.000175454	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592601	167592601	+	Missense_Mutation	SNP	G	G	A	rs116848674	by1000genomes	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:167592601G>A	ENST00000366832.2	+	6	891	c.760G>A	c.(760-762)Gga>Aga	p.G254R		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	254										endometrium(1)|kidney(2)|lung(3)	6						GGCAGCAGCCGGAGTTGCTGG	0.577000													3	13					0	0	0.00024832	0	0
ADAM18	8749	broad.mit.edu	37	8	39468072	39468072	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:39468072C>T	ENST00000265707.5	+	6	414	c.369C>T	c.(367-369)atC>atT	p.I123I	ADAM18_ENST00000520772.1_Silent_p.I123I|ADAM18_ENST00000379866.1_Silent_p.I123I|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	123					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTGAAAATATCAGTTATGGAA	0.279000													18	28					0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9085301	9085301	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:9085301C>T	ENST00000397910.4	-	1	6717	c.6514G>A	c.(6514-6516)Gcc>Acc	p.A2172T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2172	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGAAGAGGCTGTGCCTAAA	0.448000													6	27					0	0	3.59834e-05	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993246	140993246	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:140993246C>T	ENST00000285879.4	+	4	342	c.56C>T	c.(55-57)tCt>tTt	p.S19F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	19							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCCTCTGAGAGTCCT	0.547000										HNSCC(15;0.026)			35	60					0	0	0.00111076	0	0
IGFLR1	79713	broad.mit.edu	37	19	36230278	36230278	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:36230278G>A	ENST00000592537.1	-	5	1071	c.971C>T	c.(970-972)tCc>tTc	p.S324F	IGFLR1_ENST00000588992.1_Missense_Mutation_p.S156F|IGFLR1_ENST00000344990.3_Missense_Mutation_p.S136F|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_Missense_Mutation_p.S136F|IGFLR1_ENST00000246532.1_Missense_Mutation_p.S324F			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	324						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CTGGCCCAGGGAGGCAGAGGG	0.642000													4	4					0	0	0.00024832	0	0
FSTL5	56884	broad.mit.edu	37	4	162376250	162376250	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:162376250G>A	ENST00000306100.5	-	15	2183	c.1747C>T	c.(1747-1749)Cac>Tac	p.H583Y	FSTL5_ENST00000536695.1_Missense_Mutation_p.H582Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.H582Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.H573Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	583						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATCGTGTGGTGAGGCACATTC	0.418000													18	21					0	0	0.00074312	0	0
ZNF449	203523	broad.mit.edu	37	X	134494271	134494271	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:134494271C>T	ENST00000339249.4	+	5	967	c.827C>T	c.(826-828)cCc>cTc	p.P276L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAAACCCCCCCAGAGGAT	0.438000													28	64					0	0	0.000878237	0	0
KLHL4	56062	broad.mit.edu	37	X	86880700	86880700	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:86880700C>T	ENST00000373119.4	+	6	1373	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	KLHL4_ENST00000373114.4_Missense_Mutation_p.P410S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	410						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCATCTTTTGCCTGAGAGAAG	0.438000													6	33					0	0	8.12818e-05	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835082	12835082	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:12835082C>T	ENST00000357726.4	+	1	99	c.72C>T	c.(70-72)gcC>gcT	p.A24A		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	24										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTTGGCCATCCCCACCC	0.577000													28	49					0	0	0.00106085	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42887216	42887216	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:42887216G>A	ENST00000342560.5	+	3	604	c.516G>A	c.(514-516)atG>atA	p.M172I	GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	172										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGACTCCATGATCCCCAAGT	0.637000													7	15					0	0	0.000442599	0	0
FAM47C	442444	broad.mit.edu	37	X	37029343	37029343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:37029343G>A	ENST00000358047.3	+	1	2912	c.2860G>A	c.(2860-2862)Gat>Aat	p.D954N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	954										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTAAGAAGTGATGAACCTTT	0.438000													15	133					0	0	0.000566183	0	0
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:147380211C>T	ENST00000240986.4	+	2	182	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_ENST00000369235.1_Silent_p.F43F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592000													8	58					0	0	0.000157383	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22868844	22868844	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22868844C>T	ENST00000283645.4	+	20	2846	c.2716C>T	c.(2716-2718)Cta>Tta	p.L906L	TUBGCP5_ENST00000453949.2_Silent_p.L906L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	906					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TTCCAAGATTCTACACAGTAC	0.393000													9	39					0	0	0.000442599	0	0
DGCR8	54487	broad.mit.edu	37	22	20096481	20096481	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:20096481C>T	ENST00000351989.3	+	13	2622	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	DGCR8_ENST00000407755.1_Silent_p.I698I|DGCR8_ENST00000383024.2_Silent_p.I698I	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	731	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ACCTGCACATCCTCAGCAAGC	0.577000													26	62					0	0	0.00106085	0	0
ZNF236	7776	broad.mit.edu	37	18	74611016	74611016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:74611016C>T	ENST00000253159.8	+	11	1924	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R578*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	576					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R576*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAAAAATTTCGAACCTCAGG	0.383000													20	74					0	0	0.000375601	0	0
ADRB2	154	broad.mit.edu	37	5	148207177	148207177	+	Silent	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:148207177T>C	ENST00000305988.4	+	1	1022	c.783T>C	c.(781-783)tcT>tcC	p.S261S		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	261				S -> P (in Ref. 10; BAD96745).	activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TCCGCAGATCTTCCAAGTTCT	0.547000													13	50					0	0	0.000219431	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624770	1624770	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:1624770G>A	ENST00000421627.2	+	8	2168	c.2034G>A	c.(2032-2034)gtG>gtA	p.V678V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	757					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGGTGCAAGTGGAAGATGAGA	0.567000													3	9					0	0	0.00024832	0	0
ADAM32	203102	broad.mit.edu	37	8	39022299	39022299	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:39022299C>T	ENST00000379907.4	+	8	738	c.611C>T	c.(610-612)tCt>tTt	p.S204F	ADAM32_ENST00000437682.2_Missense_Mutation_p.S211F|ADAM32_ENST00000519315.1_Missense_Mutation_p.S204F	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	204	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TACTGGGGCTCTGATAGCATG	0.274000													18	73					0	0	0.000295444	0	0
MSH6	2956	broad.mit.edu	37	2	48026039	48026039	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:48026039G>A	ENST00000234420.4	+	4	1069	c.917G>A	c.(916-918)gGa>gAa	p.G306E	MSH6_ENST00000540021.1_Missense_Mutation_p.G176E|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.G4E	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	306					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGGTGACTGGAAATGGCTCT	0.468000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				53	199					0	0	0.000781405	0	0
SRL	6345	broad.mit.edu	37	16	4254574	4254574	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:4254574G>A	ENST00000399609.3	-	2	135	c.123C>T	c.(121-123)acC>acT	p.T41T	SRL_ENST00000537996.1_5'UTR	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	500	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TCAGCATGAGGGTCTTCTCGA	0.582000													39	64					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179605466	179605466	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:179605466C>T	ENST00000589042.1	-	48	12718	c.12494G>A	c.(12493-12495)gGt>gAt	p.G4165D	TTN_ENST00000359218.5_Missense_Mutation_p.G3927D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G3802D|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G3994D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G3848D|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3848							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTAGAATACCTTCTTTGGA	0.428000													29	98					0	0	0.00106085	0	0
DPYS	1807	broad.mit.edu	37	8	105441912	105441912	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:105441912C>T	ENST00000351513.2	-	5	943	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	271					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTATGGGTTCACCATAGACC	0.418000													43	47					0	0	0.000680045	0	0
RYR3	6263	broad.mit.edu	37	15	34078042	34078042	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:34078042C>T	ENST00000389232.4	+	66	9518	c.9448C>T	c.(9448-9450)Cct>Tct	p.P3150S	RYR3_ENST00000415757.3_Missense_Mutation_p.P3150S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3150					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGCGGGGTCCTGAGAACCT	0.567000													34	112					0	0	0.00111076	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													5	102					0	0	8.12818e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	2830723	2830723	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:2830723C>T	ENST00000520002.1	-	58	9397	c.8842G>A	c.(8842-8844)Gaa>Aaa	p.E2948K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E2890K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2890K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2948K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2889K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2947K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2948	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCCCATTTCACAGGAGAAG	0.557000													34	80					0	0	0.000491102	0	0
TESK1	7016	broad.mit.edu	37	9	35607613	35607613	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:35607613G>A	ENST00000336395.5	+	6	905	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	219	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCGTGGTGGGCTCCCCATA	0.602000													18	42					0	0	0.000132079	0	0
DUSP26	78986	broad.mit.edu	37	8	33454934	33454934	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:33454934C>T	ENST00000256261.4	-	2	617	c.100G>A	c.(100-102)Gag>Aag	p.E34K	DUSP26_ENST00000523956.1_Missense_Mutation_p.E34K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	34						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GTTGGCATCTCCTCCAGGGTC	0.557000													14	39					0	0	0.000566183	0	0
MMP8	4317	broad.mit.edu	37	11	102589230	102589230	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:102589230G>A	ENST00000236826.3	-	5	797	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	233					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GATACATCAAGGCACCAGGGT	0.468000													10	32					0	0	0.000442599	0	0
URB2	9816	broad.mit.edu	37	1	229773376	229773376	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:229773376G>A	ENST00000258243.2	+	4	3152	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1006						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GACGTTCTTAGAGGAGCTAAT	0.458000													16	40					0	0	0.000422831	0	0
GDF2	2658	broad.mit.edu	37	10	48413970	48413970	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:48413970G>C	ENST00000249598.1	-	2	1057	c.898C>G	c.(898-900)Cac>Gac	p.H300D		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	300					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCTCCTCGTGACTGCTCTCA	0.622000													26	30					0	0	0.000878237	0	0
VPS13B	157680	broad.mit.edu	37	8	100654394	100654394	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:100654394T>C	ENST00000358544.2	+	34	5762	c.5651T>C	c.(5650-5652)gTt>gCt	p.V1884A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V1859A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1884					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATTCAGATGTTGCTAAGCCC	0.398000													102	104					0	0	0.000781405	0	0
DDI1	414301	broad.mit.edu	37	11	103908478	103908478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:103908478G>A	ENST00000302259.3	+	1	1171	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	310					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GATTCAAATTGAAGGTGATTT	0.473000													6	68					0	0	3.59834e-05	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227293	56227293	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:56227293C>T	ENST00000341744.3	-	4	999	c.680G>A	c.(679-681)gGg>gAg	p.G227E	PMEPA1_ENST00000395816.3_Missense_Mutation_p.G177E|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G192E|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G177E|PMEPA1_ENST00000265626.4_Missense_Mutation_p.G177E	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	227					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGGCGGCGGCCCCTCCATGCG	0.711000													3	7					0	0	6.4e-05	0	0
GALR1	2587	broad.mit.edu	37	18	74963127	74963127	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr18:74963127G>A	ENST00000299727.3	+	1	623	c.623G>A	c.(622-624)gGc>gAc	p.G208D		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	208					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTCGTCTTCGGCTACCTGCTG	0.697000													25	89					0	0	0.000184323	0	0
SPAG16	79582	broad.mit.edu	37	2	214354699	214354699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:214354699C>T	ENST00000331683.5	+	10	1050	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P225S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	319					cilium assembly	cilium axoneme|flagellar axoneme		p.P319S(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCAGAATTTCCCATAGATAT	0.308000													20	100					0	0	0.000375601	0	0
NCOA4	8031	broad.mit.edu	37	10	51584898	51584898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:51584898C>T	ENST00000452682.1	+	9	1297	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	NCOA4_ENST00000374082.1_Nonsense_Mutation_p.Q333*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.Q167*|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.Q233*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.Q333*|NCOA4_ENST00000344348.6_Nonsense_Mutation_p.Q333*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.Q349*|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.Q333*	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	333					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCTCTTATTCCAGTCCTATAA	0.478000			T	RET	papillary thyroid								25	26					0	0	0.00106085	0	0
OR10J1	26476	broad.mit.edu	37	1	159409628	159409628	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:159409628G>A	ENST00000423932.3	+	1	117	c.80G>A	c.(79-81)gGt>gAt	p.G27D	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	27					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTTTTCCAAGGTTTCTCTAGC	0.398000													19	129					0	0	0.000375601	0	0
SH2B1	25970	broad.mit.edu	37	16	28880631	28880631	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:28880631G>A	ENST00000337120.5	+	4	4527	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	SH2B1_ENST00000359285.5_Silent_p.L412L|SH2B1_ENST00000538342.1_Silent_p.L76L|SH2B1_ENST00000395532.4_Silent_p.L412L|SH2B1_ENST00000322610.8_Silent_p.L412L|SH2B1_ENST00000545570.1_Silent_p.L102L|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	412	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGTCCTGCCTGAATCACTCGG	0.627000													17	38					0	0	0.000958276	0	0
OSBPL3	26031	broad.mit.edu	37	7	24932067	24932067	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:24932067C>T	ENST00000313367.2	-	2	476	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	OSBPL3_ENST00000409069.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.G9S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.G9S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.G9S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	9					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGGGACACACCAAGGTTCTTC	0.448000													20	53					0	0	0.000132079	0	0
ABCA6	23460	broad.mit.edu	37	17	67083580	67083580	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:67083580G>A	ENST00000284425.2	-	29	3907	c.3733C>T	c.(3733-3735)Cca>Tca	p.P1245S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1245					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGTTCTTCTGGATTTGGCTTA	0.373000													25	148					0	0	0.000878237	0	0
EGFLAM	133584	broad.mit.edu	37	5	38438540	38438540	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:38438540G>A	ENST00000322350.5	+	17	2793	c.2447G>A	c.(2446-2448)gGg>gAg	p.G816E	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G582E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G816E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G182E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	816	EGF-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCTTTGAGGGGCTTCACTGC	0.622000													7	16					0	0	0.000442599	0	0
TAF1A	9015	broad.mit.edu	37	1	222753199	222753199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:222753199C>A	ENST00000350027.4	-	4	460	c.307G>T	c.(307-309)Gga>Tga	p.G103*	TAF1A_ENST00000352967.4_Nonsense_Mutation_p.G103*|TAF1A_ENST00000543857.1_Nonsense_Mutation_p.G103*|TAF1A_ENST00000366890.1_5'UTR|TAF1A_ENST00000391882.1_5'UTR|TAF1A_ENST00000465263.1_5'UTR	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	103					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATTTCACTTCCGAGCTTCCAA	0.318000													10	461					0.000978159	0.00992884	0.000978159	1	0
ATG2B	55102	broad.mit.edu	37	14	96792071	96792071	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:96792071G>A	ENST00000359933.4	-	15	3245	c.2352C>T	c.(2350-2352)ttC>ttT	p.F784F		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	784										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTAGATCTGTGAAGGCTAAAT	0.368000													7	30					0	0	8.12818e-05	0	0
KCNH2	3757	broad.mit.edu	37	7	150644006	150644006	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:150644006C>T	ENST00000392968.2	-	12	4121	c.3001G>A	c.(3001-3003)Gtc>Atc	p.V1001I	KCNH2_ENST00000262186.5_Missense_Mutation_p.V1097I|KCNH2_ENST00000330883.4_Missense_Mutation_p.V757I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1097					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGGGGGCTGACGGGCAACAGC	0.657000													25	42					0	0	0.000720815	0	0
MBD6	114785	broad.mit.edu	37	12	57919821	57919821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:57919821C>T	ENST00000355673.3	+	6	1426	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	MBD6_ENST00000431731.2_Missense_Mutation_p.S357L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	357	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCCACTCCTCATCACTTCGT	0.637000													16	41					0	0	0.000422831	0	0
C11orf82	220042	broad.mit.edu	37	11	82643213	82643213	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:82643213C>T	ENST00000533655.1	+	6	1045	c.833C>T	c.(832-834)tCc>tTc	p.S278F	C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.S278F|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000525388.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	278					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGTCCATCTCCATTGCAGAG	0.408000													11	62					0	0	0.000673444	0	0
DNAH7	56171	broad.mit.edu	37	2	196682520	196682520	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:196682520C>T	ENST00000312428.6	-	50	9425	c.9325G>A	c.(9325-9327)Gga>Aga	p.G3109R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3109	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTGCATTCCCTCAGGGGTT	0.338000													12	35					0	0	0.000151284	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062573	20062573	+	Missense_Mutation	SNP	C	C	T	rs141115910	byFrequency	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:20062573C>T	ENST00000379651.3	-	6	683	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	MAP7D2_ENST00000379643.5_Missense_Mutation_p.R263Q|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R107Q|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R177Q|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R170Q	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	222										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCAATGTTTCGAGTGGGTGA	0.458000													16	147					0	0	0.00074312	0	0
MSANTD1	345222	broad.mit.edu	37	4	3255173	3255173	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:3255173C>T	ENST00000438480.2	+	2	2307	c.560C>T	c.(559-561)tCc>tTc	p.S187F	MSANTD1_ENST00000507492.1_Missense_Mutation_p.S174F|MSANTD1_ENST00000510580.1_Missense_Mutation_p.S187F	NM_001042690.1	NP_001036155.1	Q6ZTZ1	CD044_HUMAN	Myb/SANT-like DNA-binding domain containing 1	187										endometrium(1)|lung(2)	3						GATGATCGCTCCGACAGCTCC	0.587000													29	71					0	0	0.000279167	0	0
JPH3	57338	broad.mit.edu	37	16	87678374	87678374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:87678374C>T	ENST00000284262.2	+	2	1135	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	298					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GACAAACGCTCCGGCTTCGGC	0.682000													5	24					0	0	3.59834e-05	0	0
RPTN	126638	broad.mit.edu	37	1	152128515	152128515	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:152128515G>A	ENST00000316073.3	-	3	1124	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	354	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATCATAATGATAACACTGG	0.488000													241	435					0	0	0.000781405	0	0
RSPH3	83861	broad.mit.edu	37	6	159403528	159403528	+	Silent	SNP	G	G	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:159403528G>T	ENST00000367069.2	-	5	1321	c.685C>A	c.(685-687)Cga>Aga	p.R229R	RSPH3_ENST00000297262.3_Silent_p.R275R|RSPH3_ENST00000252655.1_Silent_p.R371R|RSPH3_ENST00000449822.1_Silent_p.R133R			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	371										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTTTCTTCTCGGTGTCGCCTC	0.383000													5	41					0.000602214	0.00613921	0.000602214	1	0
MLXIPL	51085	broad.mit.edu	37	7	73008693	73008693	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:73008693C>T	ENST00000313375.3	-	16	2398	c.2351G>A	c.(2350-2352)gGg>gAg	p.G784E	MLXIPL_ENST00000414749.2_Missense_Mutation_p.G782E|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G690E|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G765E|MLXIPL_ENST00000354613.1_Missense_Mutation_p.G763E|MLXIPL_ENST00000395189.1_Missense_Mutation_p.G691E	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	784					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGACACCATCCCGTTGAAGGA	0.642000													22	44					0	0	0.000295444	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627267	148627267	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:148627267C>T	ENST00000441248.1	+	3	1678	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000514208.1_Silent_p.L31L|CXorf40A_ENST00000422892.2_Silent_p.L31L|CXorf40A_ENST00000359293.5_Silent_p.L31L|CXorf40A_ENST00000434353.2_Silent_p.L31L|CXorf40A_ENST00000423421.1_Silent_p.L31L|CXorf40A_ENST00000450602.2_Silent_p.L31L|CXorf40A_ENST00000423540.2_Silent_p.L31L|CXorf40A_ENST00000393985.3_Silent_p.L31L			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	31							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCGTCCCCTGCTGAGCAGCCA	0.592000													7	35					0	0	0.000157383	0	0
SDC3	9672	broad.mit.edu	37	1	31351554	31351554	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:31351554G>C	ENST00000339394.6	-	2	346	c.172C>G	c.(172-174)Ccc>Gcc	p.P58A	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	58						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCCACGGGTCTCTCGAAG	0.637000													13	78					0	0	0.000308642	0	0
SHPRH	257218	broad.mit.edu	37	6	146264611	146264611	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:146264611G>A	ENST00000367503.3	-	9	2304	c.1906C>T	c.(1906-1908)Cta>Tta	p.L636L	SHPRH_ENST00000275233.7_Silent_p.L636L|SHPRH_ENST00000438092.2_Silent_p.L636L|SHPRH_ENST00000367505.2_Silent_p.L636L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	636					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCATGATTTAGAGATTCAGCA	0.393000													11	53					0	0	0.000673444	0	0
COL7A1	1294	broad.mit.edu	37	3	48613167	48613167	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:48613167C>T	ENST00000328333.8	-	72	5978	c.5871G>A	c.(5869-5871)cgG>cgA	p.R1957R	COL7A1_ENST00000454817.1_Silent_p.R1925R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1957	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCACGATCTCCCGCAGGGCAG	0.687000													9	23					0	0	0.000442599	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117774799	117774799	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:117774799G>A	ENST00000528626.1	-	10	1367	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.L467F|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.L467F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.L467F	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	462	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ACCTCCCGGAGGAAGGGGGAT	0.532000													9	20					0	0	0.000978159	0	0
LSM11	134353	broad.mit.edu	37	5	157178450	157178450	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:157178450G>A	ENST00000286307.5	+	2	557	c.501G>A	c.(499-501)gtG>gtA	p.V167V		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	167					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGGGGGTGAAGGTGAATG	0.488000													25	78					0	0	0.000586117	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:152748928G>A	ENST00000334371.2	+	1	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000													16	35					0	0	0.000566183	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973353	29973353	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrX:29973353G>A	ENST00000378993.1	+	11	2180	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G503R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	503	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTTGTGACTGGAGAAATTAA	0.453000													17	51					0	0	0.00074312	0	0
CDH5	1003	broad.mit.edu	37	16	66436860	66436860	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:66436860G>A	ENST00000341529.3	+	12	2291	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CDH5_ENST00000539168.1_Missense_Mutation_p.E154K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	715					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGAAGGACGAGGCGGACCA	0.682000													7	17					0	0	0.000157383	0	0
ITGB3	3690	broad.mit.edu	37	17	45384950	45384950	+	Nonsense_Mutation	SNP	C	C	T	rs121918450	byFrequency	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:45384950C>T	ENST00000559488.1	+	14	2264	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	ITGB3_ENST00000560629.1_Missense_Mutation_p.P738L|ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R703*|RP11-290H9.4_ENST00000575039.1_RNA	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	750					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CATCCACGACCGAAAAGAATT	0.532000													10	21					0	0	0.00010058	0	0
FDX1L	112812	broad.mit.edu	37	19	10421604	10421604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:10421604G>A	ENST00000541276.1	-	4	332	c.329C>T	c.(328-330)gCc>gTc	p.A110V	FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000393708.3_Missense_Mutation_p.A107V|FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A107V			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	107	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GGCCAGGGAGGCTTCACAGGC	0.612000													6	12					0	0	0.000274275	0	0
GNPDA2	132789	broad.mit.edu	37	4	44712985	44712985	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr4:44712985C>T	ENST00000509756.1	-	5	685	c.579G>A	c.(577-579)gtG>gtA	p.V193V	GNPDA2_ENST00000507534.1_Silent_p.V123V|GNPDA2_ENST00000295448.3_Silent_p.V193V|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507917.1_Silent_p.V159V			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	193					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TAGCATCCATCACTGTCCCCA	0.348000													16	92					0	0	0.00074312	0	0
RADIL	55698	broad.mit.edu	37	7	4874717	4874717	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:4874717C>T	ENST00000399583.3	-	4	1124	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	RADIL_ENST00000538469.1_Missense_Mutation_p.G73R|RADIL_ENST00000536091.1_Missense_Mutation_p.G313R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	313					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCAGCCTCCCCGCGGCCTGG	0.701000													3	11					0	0	0.00024832	0	0
KIF1B	23095	broad.mit.edu	37	1	10399869	10399869	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:10399869C>T	ENST00000377086.1	+	32	3667	c.3465C>T	c.(3463-3465)ctC>ctT	p.L1155L	KIF1B_ENST00000263934.6_Silent_p.L1109L|KIF1B_ENST00000377081.1_Silent_p.L1155L			O60333	KIF1B_HUMAN	kinesin family member 1B	1155					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGGAGCCCCTCAAAAACAATG	0.403000													9	28					0	0	0.000673444	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815700	106815700	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:106815700C>T	ENST00000407775.2	+	8	3640	c.3390C>T	c.(3388-3390)aaC>aaT	p.N1130N	ZFPM2_ENST00000378472.4_Silent_p.N861N|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.N998N|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.N998N|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1130					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGTTCAACAACCTTTCAAACT	0.408000													12	29					0	0	0.000978159	0	0
SETX	23064	broad.mit.edu	37	9	135172314	135172314	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:135172314G>A	ENST00000372169.2	-	14	6091	c.5909C>T	c.(5908-5910)tCa>tTa	p.S1970L	SETX_ENST00000224140.5_Missense_Mutation_p.S1970L|SETX_ENST00000393220.1_Missense_Mutation_p.S1970L			Q7Z333	SETX_HUMAN	senataxin	1970					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATAGTTTTTGATTTTCCTGT	0.413000													29	31					0	0	0.000409698	0	0
C12orf43	64897	broad.mit.edu	37	12	121442013	121442013	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:121442013G>A	ENST00000445832.3	-	6	744	c.642C>T	c.(640-642)gcC>gcT	p.A214A	C12orf43_ENST00000539736.1_Silent_p.A234A|C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000366211.2_Silent_p.A203A|C12orf43_ENST00000288757.3_Silent_p.A244A|C12orf43_ENST00000537817.1_Silent_p.A245A			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	244	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTCTCGCTGGCCTTCTTTG	0.567000													179	571					0	0	0.000781405	0	0
GTSE1	51512	broad.mit.edu	37	22	46725451	46725451	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:46725451C>T	ENST00000454366.1	+	11	2335	c.2123C>T	c.(2122-2124)cCg>cTg	p.P708L		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	689					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAACCTTCACCGGTGGTGGGA	0.542000													8	38					0	0	0.000157383	0	0
MFSD12	126321	broad.mit.edu	37	19	3542863	3542863	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:3542863G>A	ENST00000398558.4	-	10	1532	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron	NM_021731.2	NP_068377.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						AGGCCAGGGGGGCTTCCCAGA	0.632000													5	36					0	0	0.000602214	0	0
FAM135B	51059	broad.mit.edu	37	8	139144977	139144977	+	Silent	SNP	A	A	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr8:139144977A>C	ENST00000395297.1	-	20	4250	c.4080T>G	c.(4078-4080)acT>acG	p.T1360T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1360										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCGGATTAAAGTGCAGTCCT	0.547000										HNSCC(54;0.14)			22	394					0	0	0.000375601	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669099	234669099	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:234669099G>A	ENST00000360418.3	+	1	166	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.E56K|UGT1A3_ENST00000482026.1_Intron			P22309	UD11_HUMAN		56					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GAGGGGACATGAAATAGTTGT	0.537000													30	43					0	0	0.000227799	0	0
CAPN13	92291	broad.mit.edu	37	2	30966411	30966411	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:30966411G>A	ENST00000295055.8	-	13	1459	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	CAPN13_ENST00000534090.2_Missense_Mutation_p.S428F	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	428					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCTGAACGAGGAAAAAAACAC	0.473000													32	66					0	0	0.000409698	0	0
OR6C4	341418	broad.mit.edu	37	12	55945442	55945442	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:55945442C>T	ENST00000394256.2	+	1	460	c.432C>T	c.(430-432)ttC>ttT	p.F144F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AACTAGTGTTCTGCTCCTGGT	0.463000													43	131					0	0	0.000509022	0	0
OBSCN	84033	broad.mit.edu	37	1	228556587	228556587	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:228556587C>T	ENST00000570156.2	+	100	22877	c.22803C>T	c.(22801-22803)tcC>tcT	p.S7601S	OBSCN_ENST00000366707.4_Silent_p.S4278S|OBSCN_ENST00000422127.1_Silent_p.S6644S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6644	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAAGCCTCCGACATTTGGT	0.632000													25	42					0	0	0.000720815	0	0
IL7R	3575	broad.mit.edu	37	5	35876102	35876102	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:35876102C>T	ENST00000303115.3	+	8	1023	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	298					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGAGTTTCAATCCTGAAA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						24	41					0	0	0.00047179	0	0
OR2T10	127069	broad.mit.edu	37	1	248756774	248756774	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:248756774G>A	ENST00000330500.2	-	1	326	c.296C>T	c.(295-297)aCc>aTc	p.T99I		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTACATCTGGGTGCCACACCC	0.527000													8	21					0	0	0.000442599	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411721	43411721	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:43411721G>A	ENST00000310826.5	-	3	2667	c.2484C>T	c.(2482-2484)tcC>tcT	p.S828S	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Silent_p.S828S|ZBTB21_ENST00000398505.3_Silent_p.S627S|ZBTB21_ENST00000398499.1_Silent_p.S828S	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GCTCAGGCTGGGATTGGGGCC	0.458000													9	42					0	0	0.000673444	0	0
MMP8	4317	broad.mit.edu	37	11	102589231	102589231	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:102589231G>A	ENST00000236826.3	-	5	796	c.698C>T	c.(697-699)gCc>gTc	p.A233V		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	233					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATACATCAAGGCACCAGGGTC	0.468000													10	33					0	0	0.000442599	0	0
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr21:10906987C>T	ENST00000298232.7	-	23	1887	c.1520G>A	c.(1519-1521)aGa>aAa	p.R507K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R525K|TPTE_ENST00000342420.5_Missense_Mutation_p.R487K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	525	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGATAAATTCTCCGTGCTTT	0.358000													11	63					0	0	0.000978159	0	0
ZNF28	7576	broad.mit.edu	37	19	53303978	53303978	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:53303978G>A	ENST00000438150.2	-	2	1854	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	ZNF28_ENST00000457749.2_Missense_Mutation_p.R374C|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321C|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321C			P17035	ZNF28_HUMAN	zinc finger protein 28	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGAAGCCTACGATGGCGTGCA	0.383000													13	85					0	0	0.000151284	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858487	183858487	+	Silent	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:183858487C>A	ENST00000273783.3	+	7	1247	c.1125C>A	c.(1123-1125)acC>acA	p.T375T	EIF2B5_ENST00000444495.1_Silent_p.T375T	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	375					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTTTATCACCAACAGTGTCA	0.572000													5	66					0.000602214	0.00613921	0.000602214	1	0
ZBTB9	221504	broad.mit.edu	37	6	33423652	33423652	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:33423652C>T	ENST00000395064.2	+	2	1043	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	259	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P259S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACTGCTACTCCCCGAAAGCT	0.587000													22	36					0	0	0.000720815	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502618	90502618	+	Silent	SNP	C	C	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:90502618C>A	ENST00000325643.5	+	4	3282	c.3216C>A	c.(3214-3216)acC>acA	p.T1072T		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTCTGGGGACCACTGGTAACC	0.587000													35	48					4.14481e-20	4.30914e-19	0.000228196	1	0
MUSK	4593	broad.mit.edu	37	9	113449463	113449463	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:113449463C>G	ENST00000416899.2	+	3	399	c.273C>G	c.(271-273)gaC>gaG	p.D91E	MUSK_ENST00000189978.5_Missense_Mutation_p.D91E|MUSK_ENST00000374448.4_Missense_Mutation_p.D91E|MUSK_ENST00000374440.3_5'UTR			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	91	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGTGGAAGACAGTGATGATG	0.522000													19	115					0	0	0.000958276	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217315672	217315672	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:217315672C>T	ENST00000357276.4	+	12	2285	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S652F	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	652					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GACGTCCTTTCCCAGCTGCCT	0.607000									Schimke Immuno-Osseous Dysplasia				13	45					0	0	0.000151284	0	0
TMEM184B	25829	broad.mit.edu	37	22	38620791	38620791	+	Splice_Site	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:38620791C>T	ENST00000361906.3	-	8	1191		c.e8+1		TMEM184B_ENST00000361684.4_Splice_Site	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B							integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CTGGCTCATACCTTGTGCGTC	0.612000													8	38					0	0	0.000274275	0	0
DNPH1	10591	broad.mit.edu	37	6	43193825	43193825	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:43193825C>T	ENST00000393987.2	-	3	343	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	DNPH1_ENST00000230431.6_Missense_Mutation_p.A108T	NM_199184.1	NP_954653.1			2'-deoxynucleoside 5'-phosphate N-hydrolase 1																		AAGGCCACGGCCCGGCCCAGC	0.622000													7	21					0	0	0.000274275	0	0
S100PBP	64766	broad.mit.edu	37	1	33291899	33291899	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:33291899C>T	ENST00000373475.5	+	3	453	c.199C>T	c.(199-201)Cca>Tca	p.P67S	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.P67S|S100PBP_ENST00000373476.1_Missense_Mutation_p.P67S	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	67						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGAAGATGACCCATCATATGA	0.448000													13	63					0	0	0.000219431	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473164	22473164	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:22473164G>A	ENST00000557788.2	-	0	106																											GAGGGACAGGGTCTCCGAAGG	0.637000													10	75					0	0	0.000978159	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547826	9547826	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:9547826C>T	ENST00000287585.6	-	3	753	c.468G>A	c.(466-468)cgG>cgA	p.R156R		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	156						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CACACATGTCCCGGATGGTCT	0.632000													20	29					0	0	0.000175454	0	0
FOXE1	2304	broad.mit.edu	37	9	100616457	100616457	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:100616457C>T	ENST00000375123.3	+	1	922	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	87					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CCGAGCGCTTCCCCTTCTACC	0.647000													11	32					0	0	0.000673444	0	0
PAX7	5081	broad.mit.edu	37	1	18958101	18958101	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:18958101G>A	ENST00000420770.2	+	1	87	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	PAX7_ENST00000375375.3_Missense_Mutation_p.A2T|PAX7_ENST00000400661.3_Missense_Mutation_p.A2T	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	2					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGCAAGAATGGCGGCCCTTCC	0.622000			T	FOXO1A	alveolar rhabdomyosarcoma								9	17					0	0	0.000673444	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337333	6337333	+	RNA	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:6337333G>A	ENST00000507444.1	-	0	72					NR_028351.1																						GAGAGCAGCAGGGATACTTTT	0.527000													24	51					0	0	0.000586117	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065029	62065029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:62065029G>A	ENST00000358585.1	-	2	210	c.157C>T	c.(157-159)Cca>Tca	p.P53S		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	53						extracellular region	binding			lung(1)|prostate(1)	2						AGAGCTTCTGGAGGTGGATTA	0.448000													56	149					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179585274	179585274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:179585274G>A	ENST00000589042.1	-	80	23439	c.23215C>T	c.(23215-23217)Cga>Tga	p.R7739*	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7422*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6495*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7422	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6495*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTGCTTTCGATCTTTAACC	0.393000													9	29					0	0	0.000673444	0	0
ZNF114	163071	broad.mit.edu	37	19	48789582	48789582	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:48789582G>A	ENST00000595607.1	+	6	1195	c.701G>A	c.(700-702)gGa>gAa	p.G234E	ZNF114_ENST00000315849.1_Missense_Mutation_p.G234E|ZNF114_ENST00000597695.1_Missense_Mutation_p.G200E|ZNF114_ENST00000600687.1_Missense_Mutation_p.G234E			Q8NC26	ZN114_HUMAN	zinc finger protein 114	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CGTGAAGACGGATCCCTTAGG	0.468000													25	65					0	0	0.000375601	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50665429	50665429	+	Splice_Site	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr22:50665429G>A	ENST00000439308.2	-	6	1982	c.1491_splice	c.e6+1	p.T497_splice	TUBGCP6_ENST00000248846.5_Splice_Site_p.T497_splice	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	497					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACAACTCACGGTGGGAAACGC	0.692000													4	8					0	0	0.00024832	0	0
CR1	1378	broad.mit.edu	37	1	207803915	207803915	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:207803915G>A	ENST00000367049.4	+	46	7406	c.7406G>A	c.(7405-7407)gGa>gAa	p.G2469E	CR1_ENST00000367051.1_Missense_Mutation_p.G2019E|CR1_ENST00000400960.2_Missense_Mutation_p.G2019E|CR1_ENST00000367052.1_Missense_Mutation_p.G2019E|CR1_ENST00000367053.1_Missense_Mutation_p.G2019E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	2019					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATTCTCAAGGAGGCAGCAGC	0.343000													15	15					0	0	0.000566183	0	0
CRB1	23418	broad.mit.edu	37	1	197390634	197390634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:197390634C>T	ENST00000367400.3	+	6	1811	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	CRB1_ENST00000535699.1_Missense_Mutation_p.S490F|CRB1_ENST00000544212.1_Missense_Mutation_p.S40F|CRB1_ENST00000538660.1_Missense_Mutation_p.S559F|CRB1_ENST00000543483.1_Missense_Mutation_p.S258F|CRB1_ENST00000367399.2_Missense_Mutation_p.S447F|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	559	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGTTCATTTCCCACAACACC	0.458000													61	74					0	0	0.000781405	0	0
ZNF114	163071	broad.mit.edu	37	19	48789581	48789581	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:48789581G>A	ENST00000595607.1	+	6	1194	c.700G>A	c.(700-702)Gga>Aga	p.G234R	ZNF114_ENST00000315849.1_Missense_Mutation_p.G234R|ZNF114_ENST00000597695.1_Missense_Mutation_p.G200R|ZNF114_ENST00000600687.1_Missense_Mutation_p.G234R			Q8NC26	ZN114_HUMAN	zinc finger protein 114	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CCGTGAAGACGGATCCCTTAG	0.468000													27	67					0	0	0.000586117	0	0
COL20A1	57642	broad.mit.edu	37	20	61929332	61929332	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr20:61929332G>A	ENST00000422202.1	+	2	221	c.153G>A	c.(151-153)ggG>ggA	p.G51G	COL20A1_ENST00000358894.6_Silent_p.G51G|COL20A1_ENST00000435874.1_Silent_p.G51G|COL20A1_ENST00000326996.6_Silent_p.G51G			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	51	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGTCGGAGGGGAGCGGCCTCG	0.632000													11	27					0	0	0.000219431	0	0
C1orf112	55732	broad.mit.edu	37	1	169798453	169798453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:169798453G>T	ENST00000286031.6	+	13	1877	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	C1orf112_ENST00000413811.2_Silent_p.V320V|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.E393*|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	393										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGTTCTGGTGAACTCTCTCT	0.393000													9	54					3.86212e-05	0.00039715	0.000673444	1	0
KY	339855	broad.mit.edu	37	3	134322923	134322923	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:134322923G>A	ENST00000508956.1	-	10	1478	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Missense_Mutation_p.S495F			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	495						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCCGTGGAGGGAAGCCAGGAC	0.617000													5	10					0	0	8.12818e-05	0	0
XRN1	54464	broad.mit.edu	37	3	142030585	142030585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:142030585G>A	ENST00000264951.4	-	42	5006	c.4889C>T	c.(4888-4890)cCa>cTa	p.P1630L	XRN1_ENST00000392981.2_Missense_Mutation_p.P1618L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1630					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGTCTGAACTGGAGTGGCTTG	0.418000													16	54					0	0	0.000229342	0	0
TTC37	9652	broad.mit.edu	37	5	94861361	94861361	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:94861361T>C	ENST00000358746.2	-	14	1449	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	384							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCCTGGGATATTATCTGCATC	0.358000													67	195					0	0	0.000781405	0	0
KIF4B	285643	broad.mit.edu	37	5	154396448	154396448	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:154396448C>T	ENST00000435029.4	+	1	3189	c.3029C>T	c.(3028-3030)aCc>aTc	p.T1010I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1010	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTAATGATACCCTTCTATCT	0.423000													37	116					0	0	0.00111076	0	0
TTC13	79573	broad.mit.edu	37	1	231056329	231056329	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:231056329G>A	ENST00000366661.4	-	17	1917	c.1910C>T	c.(1909-1911)cCt>cTt	p.P637L	TTC13_ENST00000414259.1_Missense_Mutation_p.P584L|TTC13_ENST00000366662.4_Missense_Mutation_p.P584L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	637							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CAATCCTTTAGGATTATTAGC	0.358000													49	80					0	0	0.000781405	0	0
HTR1E	3354	broad.mit.edu	37	6	87725312	87725312	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr6:87725312G>A	ENST00000305344.4	+	2	963	c.260G>A	c.(259-261)cGc>cAc	p.R87H	HTR1E_ENST00000369584.1_Missense_Mutation_p.R87H	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTCATGGATCGCTGGAAGCTT	0.572000													23	53					0	0	0.000720815	0	0
TNS3	64759	broad.mit.edu	37	7	47342997	47342997	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:47342997G>A	ENST00000398879.1	-	22	3374	c.3008C>T	c.(3007-3009)tCc>tTc	p.S1003F	TNS3_ENST00000355730.3_Missense_Mutation_p.S763F|TNS3_ENST00000311160.9_Missense_Mutation_p.S1003F			Q68CZ2	TENS3_HUMAN	tensin 3	1003						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTCTGCTAGGGACAGCTCATG	0.677000													10	23					0	0	0.000978159	0	0
DPP10	57628	broad.mit.edu	37	2	116101408	116101408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:116101408C>T	ENST00000410059.1	+	3	671	c.191C>T	c.(190-192)tCg>tTg	p.S64L	DPP10_ENST00000409163.1_Missense_Mutation_p.S14L|DPP10_ENST00000393147.2_Missense_Mutation_p.S68L|DPP10_ENST00000310323.8_Missense_Mutation_p.S57L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	64					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTCACAAATTCGTCAGAAACC	0.348000													19	54					0	0	0.000295444	0	0
NEK10	152110	broad.mit.edu	37	3	27215979	27215979	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:27215979C>T	ENST00000429845.2	-	29	3089	c.2727G>A	c.(2725-2727)tcG>tcA	p.S909S	NEK10_ENST00000295720.6_Silent_p.S221S|NEK10_ENST00000383770.3_Silent_p.S221S|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Silent_p.S306S|NEK10_ENST00000383771.4_Silent_p.S221S			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	909							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGAGTTATCCGAAATGTCCA	0.383000													27	51					0	0	0.000227799	0	0
MET	4233	broad.mit.edu	37	7	116412001	116412001	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:116412001G>A	ENST00000397752.3	+	14	3186	c.2986G>A	c.(2986-2988)Gtt>Att	p.V996I	MET_ENST00000318493.6_Missense_Mutation_p.V1014I	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	996					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TACAGAAATGGTTTCAAATGA	0.408000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				11	50					0	0	0.000151284	0	0
TESK1	7016	broad.mit.edu	37	9	35607612	35607612	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:35607612G>A	ENST00000336395.5	+	6	904	c.654G>A	c.(652-654)gtG>gtA	p.V218V	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	218	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCGTGGTGGGCTCCCCAT	0.602000													20	43					0	0	0.000229342	0	0
PPP3R1	5534	broad.mit.edu	37	2	68413777	68413777	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:68413777G>A	ENST00000234310.3	-	5	691	c.288C>T	c.(286-288)ttC>ttT	p.F96F	PPP3R1_ENST00000409752.1_Silent_p.F115F|PPP3R1_ENST00000409377.1_Silent_p.F86F	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	96	EF-hand 3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	CATAGATACGGAAAGCAACTA	0.343000													6	24					0	0	8.12818e-05	0	0
YEATS2	55689	broad.mit.edu	37	3	183454519	183454519	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:183454519C>T	ENST00000305135.5	+	8	1021	c.826C>T	c.(826-828)Cac>Tac	p.H276Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	276	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCTCCTTTTCACCTGACCAG	0.418000													55	95					0	0	0.000781405	0	0
COL11A1	1301	broad.mit.edu	37	1	103544216	103544216	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:103544216C>T	ENST00000358392.2	-	3	803	c.486G>A	c.(484-486)ggG>ggA	p.G162G	COL11A1_ENST00000353414.4_Silent_p.G162G|COL11A1_ENST00000370096.3_Silent_p.G162G|COL11A1_ENST00000512756.1_Silent_p.G162G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	162	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACTTACTTCCCGTCAGCGA	0.358000													18	22					0	0	0.00074312	0	0
FLNC	2318	broad.mit.edu	37	7	128485004	128485004	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:128485004G>A	ENST00000325888.8	+	21	3746	c.3485G>A	c.(3484-3486)gGa>gAa	p.G1162E	FLNC_ENST00000346177.6_Missense_Mutation_p.G1162E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1162					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGGCCAGTGGACCGGGCCTG	0.622000													16	43					0	0	0.000422831	0	0
PSG9	5678	broad.mit.edu	37	19	43762220	43762220	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:43762220C>T	ENST00000244293.7	-	4	1164	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Silent_p.L273L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGAGGGTTCAGGAGGAGAA	0.453000													4	8					0	0	0.00024832	0	0
FLG2	388698	broad.mit.edu	37	1	152326064	152326064	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:152326064C>T	ENST00000388718.5	-	3	4270	c.4198G>A	c.(4198-4200)Gga>Aga	p.G1400R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1400							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCATGTCCAGTGGCCTCT	0.507000													90	129					0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124285925	124285925	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:124285925G>A	ENST00000409039.3	+	15	2231	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	736	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATTCCCAGGAACTGCTCCG	0.448000													36	77					0	0	0.000692331	0	0
DNAH5	1767	broad.mit.edu	37	5	13841969	13841969	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:13841969C>T	ENST00000265104.4	-	33	5420	c.5316G>A	c.(5314-5316)acG>acA	p.T1772T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1772	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAATTCAATCGTCTCACCCT	0.353000									Kartagener syndrome				36	82					0	0	0.000270559	0	0
DENND1C	79958	broad.mit.edu	37	19	6468913	6468913	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:6468913G>A	ENST00000381480.2	-	20	1571	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S	DENND1C_ENST00000543576.1_Missense_Mutation_p.P443S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	487						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCGGCTGGGGAGGGCTGGG	0.617000													5	20					0	0	0.000602214	0	0
OR4L1	122742	broad.mit.edu	37	14	20528638	20528638	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr14:20528638G>A	ENST00000315683.1	+	1	435	c.435G>A	c.(433-435)gcG>gcA	p.A145A		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCGATACTTTCAT	0.388000													24	53					0	0	0.000375601	0	0
GALNT13	114805	broad.mit.edu	37	2	155099411	155099411	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:155099411G>A	ENST00000392825.3	+	6	1246	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	GALNT13_ENST00000409237.1_Missense_Mutation_p.E227K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	227						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGAATAAAGGAAGACAGGTA	0.448000													6	17					0	0	0.000157383	0	0
BET1L	51272	broad.mit.edu	37	11	205627	205627	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:205627C>T	ENST00000325147.9	-	3	212	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	BET1L_ENST00000529614.2_Intron|BET1L_ENST00000382762.3_Missense_Mutation_p.R51Q|BET1L_ENST00000410108.1_Missense_Mutation_p.R51Q|BET1L_ENST00000486280.1_Missense_Mutation_p.R28Q|BET1L_ENST00000332865.6_Missense_Mutation_p.R51Q			Q9NYM9	BET1L_HUMAN	Bet1 golgi vesicular membrane trafficking protein-like	51	t-SNARE coiled-coil homology.				protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity						all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCAGGTACCGGTTCTGATC	0.582000													8	37					0	0	0.000157383	0	0
ACP6	51205	broad.mit.edu	37	1	147131150	147131150	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:147131150G>A	ENST00000369238.5	-	4	931	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	ACP6_ENST00000392988.2_Missense_Mutation_p.R162C	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	162					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TTAGTGGAACGAATACTGAAA	0.398000													33	52					0	0	0.000409698	0	0
KNDC1	85442	broad.mit.edu	37	10	135026355	135026355	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr10:135026355G>A	ENST00000304613.3	+	24	4393	c.4372G>A	c.(4372-4374)Gag>Aag	p.E1458K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1460K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1458					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGACCAGTGAGAAGGGGCC	0.647000													16	16					0	0	0.000132079	0	0
RUSC2	9853	broad.mit.edu	37	9	35556373	35556373	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr9:35556373C>T	ENST00000455600.1	+	5	3480	c.2911C>T	c.(2911-2913)Cct>Tct	p.P971S		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	971						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GACGGAGAAGCCTCCAGCTGA	0.527000													19	42					0	0	0.000132079	0	0
GRIA1	2890	broad.mit.edu	37	5	153149865	153149865	+	Silent	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:153149865C>T	ENST00000285900.5	+	13	2503	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	GRIA1_ENST00000521843.2_Silent_p.S651S|GRIA1_ENST00000518783.1_Silent_p.S730S|GRIA1_ENST00000340592.5_Silent_p.S720S|GRIA1_ENST00000518142.1_Silent_p.S640S|GRIA1_ENST00000448073.4_Silent_p.S730S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	720					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCCTGGAGTCCACCATGAATG	0.502000													4	34					0	0	0.000602214	0	0
CYFIP2	26999	broad.mit.edu	37	5	156723741	156723741	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:156723741G>A	ENST00000347377.6	+	5	777	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CYFIP2_ENST00000377576.3_Missense_Mutation_p.E116K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E90K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E116K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E41K|CYFIP2_ENST00000522463.1_Intron	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	116					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGGTGCTGGAGCCGGAGGT	0.512000													43	210					0	0	0.000781405	0	0
EHD1	10938	broad.mit.edu	37	11	64622932	64622932	+	Silent	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr11:64622932G>A	ENST00000320631.3	-	4	1196	c.942C>T	c.(940-942)ctC>ctT	p.L314L	EHD1_ENST00000359393.2_Silent_p.L314L	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	314					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCTCTTTCTTGAGGGAGCTGA	0.547000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	117					0	0	0.000295444	0	0
ABCC1	4363	broad.mit.edu	37	16	16110416	16110416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr16:16110416C>T	ENST00000399408.2	+	5	728	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	ABCC1_ENST00000349029.5_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000399410.3_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.Q185*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.Q185*			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	185					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTTACTCATTCAGCTCGTCTT	0.493000													56	220					0	0	0.000781405	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832436	27832436	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr12:27832436G>A	ENST00000318304.8	+	19	1931	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E519K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E544K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E397K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	550					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AACAGAAAAAGAGACAGCAGA	0.418000													31	103					0	0	0.000409698	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693133	187693133	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:187693133G>A	ENST00000295131.2	-	9	1519	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	494					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGATACCTGGGAAAATGTTGG	0.318000													14	24					0	0	0.000422831	0	0
PADI4	23569	broad.mit.edu	37	1	17668570	17668571	+	Frame_Shift_Ins	INS	-	-	G	rs34743635		TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:17668570_17668571insG	ENST00000375448.4	+	7	811_812	c.785_786insG	c.(784-786)cggfs	p.R262fs	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	262					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	ACCGACTTCCCGGGGCTCATTA	0.634													11	89	---	---	---	---					
LEPR	3953	broad.mit.edu	37	1	66102426	66102429	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr1:66102426_66102429delTCTA	ENST00000349533.6	+	20	3411_3414	c.3226_3229delTCTA	c.(3226-3231)tcfs	p.SI1076fs	LEPR_ENST00000406510.3_Frame_Shift_Del_p.SI143fs	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1076					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGATAAAAAGTCTATCTATTATTT	0.402													17	136	---	---	---	---					
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr2:88874269_88874270delCT	ENST00000303236.3	-	13	3032_3033	c.2731_2732delAG	c.(2731-2733)gfs	p.R911fs	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	911	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465													7	980	---	---	---	---					
CBLB	868	broad.mit.edu	37	3	105412365	105412367	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:105412365_105412367delGGA	ENST00000264122.4	-	13	2346_2348	c.2025_2027delTCC	c.(2023-2028)cca>cc	p.PP675del	CBLB_ENST00000403724.1_In_Frame_Del_p.PP675del|CBLB_ENST00000405772.1_In_Frame_Del_p.PP675del|CBLB_ENST00000394027.3_In_Frame_Del_p.PP697del	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	675	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGTGGTAACTGGAGGAGGAGGAG	0.414			Mis S		AML								9	44	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130300683	130300685	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:130300683_130300685delCTC	ENST00000358511.6	+	8	3857_3859	c.3826_3828delCTC	c.(3826-3828)del	p.L1276del	COL6A6_ENST00000453409.2_In_Frame_Del_p.L1276del	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1276	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCATCTCTTCTCAATGCAAACC	0.365													31	296	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													4	5	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388533	44388534	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr5:44388533_44388534delAG	ENST00000264664.4	-	1	365_366	c.251_252delCT	c.(250-252)tfs	p.S84fs		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	84					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					ACTTGGTGAAAGAGAATAGCTT	0.510													10	70	---	---	---	---					
PHTF2	57157	broad.mit.edu	37	7	77569579	77569580	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr7:77569579_77569580delTC	ENST00000416283.2	+	12	1724_1725	c.1598_1599delTC	c.(1597-1599)tfs	p.F535fs	PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGTGGATTTTCTTTTTTTTGC	0.307													7	226	---	---	---	---					
RFXAP	5994	broad.mit.edu	37	13	37393673	37393673	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr13:37393673delC	ENST00000255476.2	+	1	313	c.179delC	c.(178-180)gcfs	p.A60fs		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GAGGCTGCGGCCCCCGGGGGC	0.706													2	4	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73660292	73660292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr15:73660292delC	ENST00000261917.3	-	1	1313	c.320delG	c.(319-321)gcfs	p.G109fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	109					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCTGCCGCCGCCCCGGCTGCC	0.781													2	4	---	---	---	---					
NLK	51701	broad.mit.edu	37	17	26449708	26449708	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr17:26449708delA	ENST00000407008.3	+	2	1256	c.538delA	c.(538-540)aafs	p.K180fs		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	180	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGTCTCTTGCAAAAGGGTCTT	0.408													40	63	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57347474	57347475	+	Splice_Site	DEL	TG	TG	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chr19:57347474_57347475delTG	ENST00000326441.9	-	2	115		c.e2-2		ZIM2_ENST00000599935.1_Splice_Site|ZIM2_ENST00000221722.5_Splice_Site|PEG3_ENST00000593695.1_Splice_Site|PEG3_ENST00000598410.1_Splice_Site|ZIM2_ENST00000593711.1_Splice_Site|PEG3_ENST00000594706.1_Splice_Site|PEG3_ENST00000423103.2_Splice_Site|ZIM2_ENST00000391708.3_Splice_Site	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3						apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGGCAAAGCTGTAGAGGAAAA	0.470													2	4	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-D3-A2JN-06A-11D-A196-08	TCGA-D3-A2JN-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec0ae00-74b8-4d3f-b9e1-af49d3cd6f11	55241a91-a843-4d48-9a49-9720edc9642a	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													7	23	---	---	---	---					
