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
SCN10A	6336	broad.mit.edu	37	3	38835308	38835308	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr3:38835308T>G	ENST00000449082.2	-	1	193	c.194A>C	c.(193-195)aAg>aCg	p.K65T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	65					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCATAGAACTTGGGCAGCTG	0.547000													19	118					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55594221	55594221	+	Missense_Mutation	SNP	A	A	G	rs121913512		TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr4:55594221A>G	ENST00000288135.5	+	13	2021	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	642	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K642E(25)|p.K642Q(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGAACTCAAAGTCCTGAG	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				61	26					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857300	30857300	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:30857300C>T	ENST00000403066.1	-	12	1184	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	SEC14L3_ENST00000539629.1_Missense_Mutation_p.V301I|SEC14L3_ENST00000415957.2_Missense_Mutation_p.V301I|SEC14L3_ENST00000540910.1_Missense_Mutation_p.V283I|SEC14L3_ENST00000402286.1_Missense_Mutation_p.V283I|SEC14L3_ENST00000401751.1_Missense_Mutation_p.V301I|SEC14L3_ENST00000215812.4_Missense_Mutation_p.V360I			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	360	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GACTTACAGACGCCGGCCTCT	0.612000													26	139					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800912	21800912	+	Silent	SNP	C	C	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:21800912C>G	ENST00000443632.2	+	2	2100	c.1728C>G	c.(1726-1728)ctC>ctG	p.L576L	HIC2_ENST00000407598.2_Silent_p.L576L|HIC2_ENST00000407464.2_Silent_p.L576L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	576					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AGTACCGCCTCACGGAGCACA	0.652000													24	209					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16085650	16085650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr2:16085650G>T	ENST00000281043.3	+	3	1123	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	276	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			tgaagaggaagaaATCGACGT	0.468000			A		neuroblastoma								11	13					4.68919e-08	4.98226e-08	1	1	0
CASC5	57082	broad.mit.edu	37	15	40912859	40912859	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr15:40912859C>A	ENST00000346991.5	+	11	865	c.475C>A	c.(475-477)Cgt>Agt	p.R159S	CASC5_ENST00000399668.2_Missense_Mutation_p.R133S|CASC5_ENST00000527044.1_Missense_Mutation_p.P113Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	159	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGAACATACCCGTGAAAGGAA	0.313000													8	4					0.0477658	0.0484787	1	1	0
USP17L2	377630	broad.mit.edu	37	8	11994707	11994707	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr8:11994707G>C	ENST00000333796.3	-	1	1879	c.1563C>G	c.(1561-1563)caC>caG	p.H521Q	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	521					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCCTCTTGCTGTGTTTGTTCT	0.562000													29	76					0	0	1	0	0
UBE2K	3093	broad.mit.edu	37	4	39739109	39739109	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr4:39739109G>A	ENST00000261427.5	+	2	417	c.133G>A	c.(133-135)Gga>Aga	p.G45R	UBE2K_ENST00000295963.6_Missense_Mutation_p.G45R|UBE2K_ENST00000503368.1_Intron|UBE2K_ENST00000445950.2_Missense_Mutation_p.G45R|UBE2K_ENST00000438068.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	45					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						AGAAATAGCAGGACCTCCAGA	0.289000													8	40					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661954	44661954	+	Silent	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr19:44661954C>T	ENST00000426739.2	+	6	2043	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	ZNF234_ENST00000592437.1_Silent_p.P595P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAGAAAAACCCTATACATGTG	0.478000													13	74					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128366325	128366325	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr2:128366325G>A	ENST00000389524.4	+	22	2739	c.2686G>A	c.(2686-2688)Gct>Act	p.A896T	MYO7B_ENST00000428314.1_Missense_Mutation_p.A896T|MYO7B_ENST00000409816.2_Missense_Mutation_p.A896T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	896						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGCCAAGGCGCTCTCCCTGC	0.652000													10	14					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029815	219029815	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr2:219029815A>C	ENST00000295683.2	-	2	240	c.120T>G	c.(118-120)taT>taG	p.Y40*		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	40					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGATCACAACATACTTGTTGA	0.498000													38	63					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74394745	74394745	+	RNA	SNP	A	A	G	rs71391080	by1000genomes	TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr16:74394745A>G	ENST00000429810.2	-	0	220																											GACAGCAACCAGTAGAACATC	0.483000													5	18					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701507	143701507	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr7:143701507C>T	ENST00000408922.2	+	1	486	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GAGCCATGGGCTCTGCTTCCG	0.562000													22	41					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697540	6697540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr19:6697540C>T	ENST00000245907.6	-	21	2703	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	871					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGCAGAAGGCTGGATTGTGG	0.587000													17	24					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823853	38823853	+	Silent	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:38823853C>T	ENST00000303592.3	-	2	543	c.285G>A	c.(283-285)gcG>gcA	p.A95A		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	95	Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ggccccccgccgcAGGCACCC	0.687000													16	27					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47254252	47254252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr6:47254252C>T	ENST00000296861.2	-	2	569	c.176G>A	c.(175-177)cGt>cAt	p.R59H		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	59					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GCCGGTGGCACGGTCAACATG	0.547000													7	29					0	0	1	0	0
NBPF8	728841	broad.mit.edu	37	1	144220808	144220808	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr1:144220808T>G	ENST00000369373.5	+	2	75	c.75T>G	c.(73-75)gaT>gaG	p.D25E						neuroblastoma breakpoint family, member 8																		AGCTGCTGGATGAGAAAGAGC	0.488000													22	125					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55088573	55088573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr5:55088573G>A	ENST00000505374.1	+	17	1499	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	DDX4_ENST00000514278.2_Missense_Mutation_p.M449I|DDX4_ENST00000511853.1_Missense_Mutation_p.M320I|DDX4_ENST00000354991.5_Missense_Mutation_p.M435I|DDX4_ENST00000353507.5_Missense_Mutation_p.M435I	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	469	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCCCAGGAATGCCATCAAAGG	0.343000													16	27					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28000615	28000615	+	Silent	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr15:28000615C>T	ENST00000354638.3	-	24	2591	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	OCA2_ENST00000353809.5_Silent_p.L788L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	812					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTGGGAAGCCCAGCCTGAAAT	0.438000									Oculocutaneous Albinism				10	3					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7659195	7659195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr10:7659195C>T	ENST00000256861.6	-	6	781	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	ITIH5_ENST00000397145.2_Missense_Mutation_p.A235T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A21T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A235T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.A17T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	235					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATTATGTTGGCAAATGTTTCA	0.333000													18	35					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209106743	209106743	+	Silent	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr2:209106743G>A	ENST00000415913.1	-	7	1206	c.825C>T	c.(823-825)gaC>gaT	p.D275D	IDH1_ENST00000345146.2_Silent_p.D275D|IDH1_ENST00000446179.1_Silent_p.D275D			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	275					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CCGACTGCACGTCACCATCAT	0.512000			Mis		gliobastoma								42	53					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19125792	19125792	+	Silent	SNP	C	C	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:19125792C>G	ENST00000252137.6	-	7	904	c.861G>C	c.(859-861)ctG>ctC	p.L287L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	287					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCTGGGGGATCAGCTCCTTGC	0.627000													8	62					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65681244	65681244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr15:65681244G>A	ENST00000352385.2	-	15	2818	c.2609C>T	c.(2608-2610)cCc>cTc	p.P870L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	870	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTCTGTGGGGGGGCACCAGTG	0.657000													3	49					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36369552	36369552	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr19:36369552G>A	ENST00000221891.4	+	14	1838	c.1646G>A	c.(1645-1647)cGa>cAa	p.R549Q	APLP1_ENST00000537454.2_Missense_Mutation_p.R509Q|APLP1_ENST00000586861.1_Missense_Mutation_p.R542Q	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	548					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGTATGAGCGAAAGGTAAGT	0.502000													15	16					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82630420	82630420	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr8:82630420A>T	ENST00000220669.5	-	2	113	c.95T>A	c.(94-96)tTt>tAt	p.F32Y	ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000523096.1_Missense_Mutation_p.F32Y|ZFAND1_ENST00000519523.1_Missense_Mutation_p.F32Y	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	32							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AACTTACCAAAATATTCCTGA	0.259000													47	26					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011797	141011797	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr3:141011797G>A	ENST00000508812.1	+	5	3073	c.1166G>A	c.(1165-1167)aGg>aAg	p.R389K	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.R360K|ACPL2_ENST00000393007.1_Missense_Mutation_p.R382K|ACPL2_ENST00000393010.2_Missense_Mutation_p.R398K|ACPL2_ENST00000504264.1_Missense_Mutation_p.R381K|ACPL2_ENST00000286353.4_Missense_Mutation_p.R398K			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	398						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGGTTCCCAAGGTTTGCAGCC	0.507000													14	87					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406680	144406680	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr8:144406680A>G	ENST00000523676.1	-	7	902	c.497T>C	c.(496-498)aTg>aCg	p.M166T	TOP1MT_ENST00000519148.1_Missense_Mutation_p.M166T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.M264T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.M166T			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	264					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGGGTTCAGCATGATGTACTT	0.632000													26	82					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59126880	59126880	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr1:59126880T>C	ENST00000472487.1	-	19	2329	c.2290A>G	c.(2290-2292)Atc>Gtc	p.I764V	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	764					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CGGCGAAAGATTTTATCCATG	0.373000													26	18					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35659074	35659074	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:35659074G>A	ENST00000216106.5	+	3	163	c.35G>A	c.(34-36)tGt>tAt	p.C12Y	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	12					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCTCAGATTGTTTTGATGGT	0.398000													13	32					0	0	1	0	0
NTAN1	123803	broad.mit.edu	37	16	15133876	15133876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr16:15133876G>A	ENST00000287706.3	-	8	681	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	PDXDC1_ENST00000535621.2_Intron	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	197						cytoplasm		p.R197W(1)		endometrium(1)|large_intestine(4)|lung(3)	8						TCCGGACCCCGATCTTGAAAG	0.448000													53	80					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984699	110984699	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr8:110984699C>T	ENST00000524391.1	-	3	1811	c.779G>A	c.(778-780)cGc>cAc	p.R260H	KCNV1_ENST00000297404.1_Missense_Mutation_p.R260H			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	260						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACACAGGAAGCGGAGGACAAA	0.532000													15	34					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116303599	116303599	+	Splice_Site	SNP	G	G	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr9:116303599G>T	ENST00000317613.6	+	18	1772		c.e18-1		RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374136.1_Splice_Site|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000394646.3_Intron	NM_017790.3	NP_060260.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGTTCCACAGAAACTCCACC	0.557000													140	149					5.27852e-72	6.08372e-72	1	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907886	12907886	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr1:12907886G>A	ENST00000317869.6	-	2	482	c.257C>T	c.(256-258)gCa>gTa	p.A86V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTTTGGCTCTGCAGCCAGGTT	0.488000													10	124					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23808761	23808761	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr7:23808761C>T	ENST00000354639.3	+	12	1959	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	STK31_ENST00000433467.2_Missense_Mutation_p.R522C|STK31_ENST00000428484.1_Missense_Mutation_p.R499C|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.R522C	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	522							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCTCTGCACCGTCTTGTAGC	0.373000													47	27					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023161	18023161	+	Silent	SNP	C	C	T	rs146765685	by1000genomes	TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr17:18023161C>T	ENST00000205890.5	+	2	1385	c.1047C>T	c.(1045-1047)taC>taT	p.Y349Y		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	349	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGCGCCGTACGACGCGCCAT	0.597000													53	50					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112154666	112154666	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr5:112154666G>A	ENST00000457016.1	+	10	1317	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	APC_ENST00000508376.2_Missense_Mutation_p.E313K|APC_ENST00000257430.4_Missense_Mutation_p.E313K			P25054	APC_HUMAN	adenomatous polyposis coli	313	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCCACAGGTGGAAATGGTGTA	0.363000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			38	221					0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139065880	139065880	+	Silent	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr3:139065880G>A	ENST00000495075.1	+	4	765	c.333G>A	c.(331-333)ttG>ttA	p.L111L	MRPS22_ENST00000465056.1_Silent_p.L110L|MRPS22_ENST00000310776.4_Silent_p.L111L|MRPS22_ENST00000478464.1_Silent_p.L70L			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	111						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AGGCACAGTTGGAAGAGGTAC	0.408000													21	58					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49294652	49294652	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr3:49294652G>T	ENST00000438782.1	+	8	1958	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N	CCDC36_ENST00000296449.5_Missense_Mutation_p.K574N|CCDC36_ENST00000452691.2_Missense_Mutation_p.K574N			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	574										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CTCTATGCAAGGAGGCAGGAA	0.493000													59	8					8.27209e-15	9.37504e-15	1	1	0
PSMA6	5687	broad.mit.edu	37	14	35777206	35777206	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr14:35777206C>G	ENST00000261479.4	+	2	203	c.83C>G	c.(82-84)gCt>gGt	p.A28G	PSMA6_ENST00000553809.1_Missense_Mutation_p.A28G|PSMA6_ENST00000556506.1_Missense_Mutation_p.A28G|PSMA6_ENST00000540871.1_Missense_Mutation_p.A9G|PSMA6_ENST00000555764.1_5'UTR|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CCAGAATATGCTTTTAAGGCT	0.343000													14	19					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21801022	21801022	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:21801022C>A	ENST00000443632.2	+	2	2210	c.1838C>A	c.(1837-1839)tCc>tAc	p.S613Y	HIC2_ENST00000407598.2_Missense_Mutation_p.S613Y|HIC2_ENST00000407464.2_Missense_Mutation_p.S613Y			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	613					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ATGCACACCTCCCCCTCCTAG	0.642000													20	204					2.94398e-08	3.17763e-08	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr7:72685542G>A	ENST00000425256.1	-	0	116					NR_002164.1																						ACGTTACCATGACAAAAGCAG	0.463000													4	90					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129788441	129788441	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr11:129788441C>T	ENST00000358825.5	-	15	2450	c.2219G>A	c.(2218-2220)gGc>gAc	p.G740D	PRDM10_ENST00000526082.1_Missense_Mutation_p.G654D|PRDM10_ENST00000528746.1_Missense_Mutation_p.G710D|PRDM10_ENST00000304538.6_Missense_Mutation_p.G650D|PRDM10_ENST00000360871.3_Missense_Mutation_p.G736D|PRDM10_ENST00000423662.2_Missense_Mutation_p.G654D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GACCAGCATGCCGCGCCGCCG	0.577000													4	101					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800996	21800996	+	Silent	SNP	C	C	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:21800996C>A	ENST00000443632.2	+	2	2184	c.1812C>A	c.(1810-1812)ctC>ctA	p.L604L	HIC2_ENST00000407598.2_Silent_p.L604L|HIC2_ENST00000407464.2_Silent_p.L604L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	604					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AGCGCAACCTCATCAGCCACC	0.652000													23	231					2.21704e-12	2.47145e-12	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	42					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7623091	7623091	+	Silent	SNP	C	C	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr17:7623091C>G	ENST00000572933.1	+	2	1499	c.39C>G	c.(37-39)ggC>ggG	p.G13G	DNAH2_ENST00000570791.1_Silent_p.G13G|DNAH2_ENST00000082259.3_Silent_p.G13G|DNAH2_ENST00000389173.2_Silent_p.G13G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	13	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATTGAGTGGCCGAGGAAGCT	0.602000													14	13					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28845876	28845876	+	Silent	SNP	G	G	A	rs147688158		TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr16:28845876G>A	ENST00000336783.4	+	18	2462	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	ATXN2L_ENST00000395547.2_Silent_p.P765P|ATXN2L_ENST00000570200.1_Silent_p.P765P|ATXN2L_ENST00000325215.6_Silent_p.P765P|ATXN2L_ENST00000564304.1_Silent_p.P771P|ATXN2L_ENST00000565845.1_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.P765P|ATXN2L_ENST00000340394.8_Silent_p.P765P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	765						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTCAGCCCCGCCGATGATGC	0.672000													4	129					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	41					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55194271	55194271	+	Missense_Mutation	SNP	G	G	A	rs143278619		TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr17:55194271G>A	ENST00000337714.3	+	8	2716	c.2483G>A	c.(2482-2484)aGt>aAt	p.S828N	AKAP1_ENST00000571629.1_Missense_Mutation_p.S828N|AKAP1_ENST00000539273.1_Missense_Mutation_p.S828N|AKAP1_ENST00000572557.1_Missense_Mutation_p.S828N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	828					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.S828N(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTTCTGGACAGTGTGATGCCC	0.522000													36	31					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101818	21101818	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr10:21101818C>T	ENST00000377122.4	-	24	2794	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	NEBL_ENST00000417816.2_Missense_Mutation_p.V137I|NEBL_ENST00000377159.4_Missense_Mutation_p.V103I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	800					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGTCCACGACGGGAGTAAAG	0.458000													20	17					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324275	3324275	+	Silent	SNP	C	C	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr17:3324275C>A	ENST00000291231.1	+	1	414	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TCTGCCAGCCCCTCACCTACA	0.612000													11	82					4.3838e-07	4.58613e-07	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51857414	51857414	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr12:51857414C>G	ENST00000453097.2	+	11	1482	c.1265C>G	c.(1264-1266)cCt>cGt	p.P422R	SLC4A8_ENST00000535225.2_Missense_Mutation_p.P369R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.P369R|SLC4A8_ENST00000394856.1_Missense_Mutation_p.P369R|SLC4A8_ENST00000358657.3_Missense_Mutation_p.P449R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	422					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGGAAAATGCCTGGAGTTCCA	0.473000													26	38					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134444	21134444	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr22:21134444G>A	ENST00000215727.5	+	2	1127	c.844G>A	c.(844-846)Gac>Aac	p.D282N	SERPIND1_ENST00000406799.1_Missense_Mutation_p.D282N|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	282					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GGAGAATATAGACCCTGCTAC	0.428000													7	934					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44227996	44227996	+	Silent	SNP	C	C	T	rs139653621		TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr6:44227996C>T	ENST00000275015.5	-	5	1220	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	407					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAGGTGCAGCGCTGTCTTAC	0.617000													18	31					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73541507	73541507	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr15:73541507T>A	ENST00000339362.5	+	11	2160	c.1713T>A	c.(1711-1713)aaT>aaA	p.N571K	NEO1_ENST00000261908.6_Missense_Mutation_p.N571K|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.N571K|NEO1_ENST00000560262.1_Missense_Mutation_p.N571K			Q92859	NEO1_HUMAN	neogenin 1	571	Fibronectin type-III 2.				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						AAATTCAGAATTATAAATTGT	0.418000													18	30					0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14520732	14520732	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr19:14520732G>T	ENST00000454233.2	-	6	793	c.794C>A	c.(793-795)gCc>gAc	p.A265D	DDX39A_ENST00000592927.1_Intron|DDX39A_ENST00000242776.4_Intron			O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	0	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TCACCTCTGGGCATCTCGCCT	0.617000													20	25					1.50039e-11	1.64559e-11	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													6	11	---	---	---	---					
SNX27	81609	broad.mit.edu	37	1	151584936	151584936	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr1:151584936delG	ENST00000368843.3	+	1	379	c.259delG	c.(259-261)ggfs	p.G88fs	RP11-404E16.1_ENST00000504583.2_RNA|SNX27_ENST00000458013.2_Frame_Shift_Del_p.G88fs	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	88	PDZ.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGTGCTGCCCGGGGGGGCGGC	0.736													2	4	---	---	---	---					
FHDC1	85462	broad.mit.edu	37	4	153896923	153896924	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr4:153896923_153896924insC	ENST00000511601.1	+	12	2668_2669	c.2480_2481insC	c.(2479-2481)accfs	p.T827fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.T827fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	827					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCTACATCCAGCCCCCCTGGGG	0.634													108	79	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													4	5	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr13:52857402delA	ENST00000451298.1	-	0	303				RP11-64P12.8_ENST00000606031.1_RNA																							ACTTAACGTCAAAAAAAATGT	0.289													3	4	---	---	---	---					
SPRED1	161742	broad.mit.edu	37	15	38616976	38616977	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr15:38616976_38616977insA	ENST00000299084.4	+	4	1249_1250	c.389_390insA	c.(388-390)taafs	p.*130fs	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	130					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGCCCCGAATCAAAAAATGAAG	0.312									Legius syndrome				13	4	---	---	---	---					
RAP1GAP2	23108	broad.mit.edu	37	17	2911415	2911416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EB-A5KH-06A-11D-A27K-08	TCGA-EB-A5KH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cde0839-1b26-4b1e-ad38-6cda94a630e1	a1dc7d62-5bec-4c51-9c8f-cb8ab6724fa7	g.chr17:2911415_2911416insG	ENST00000254695.8	+	17	1560_1561	c.1470_1471insG	c.(1468-1473)caggggfs	p.QG490fs	RAP1GAP2_ENST00000542807.1_Frame_Shift_Ins_p.QG490fs|RAP1GAP2_ENST00000366401.4_Frame_Shift_Ins_p.QG475fs|RAP1GAP2_ENST00000540393.2_Frame_Shift_Ins_p.QG471fs	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	490					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGGAGGCCACGGGGGGTTCCT	0.584													20	82	---	---	---	---