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
ANO5	203859	broad.mit.edu	37	11	22294525	22294525	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:22294525T>A	ENST00000324559.8	+	19	2542	c.2225T>A	c.(2224-2226)gTt>gAt	p.V742D	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	742						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTTTCTGTTGCAACTAAT	0.418000													20	78					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884359	52884359	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:52884359C>T	ENST00000330722.6	-	5	1139	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	357	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACCTTGGTCTGGTACCAGG	0.577000													55	231					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89869667	89869667	+	Splice_Site	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:89869667C>T	ENST00000389301.3	-	8	822	c.792_splice	c.e8+1	p.Q264_splice	FANCA_ENST00000563673.1_Splice_Site_p.Q264_splice|FANCA_ENST00000534992.1_Splice_Site_p.Q264_splice|FANCA_ENST00000389302.3_Splice_Site_p.Q264_splice|FANCA_ENST00000543736.1_Splice_Site_p.Q232_splice|FANCA_ENST00000568369.1_Splice_Site_p.Q264_splice	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	264					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTCCTCCTACCTGCGGCATTT	0.398000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	135					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892029	5892029	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:5892029C>T	ENST00000581347.1	-	3	679	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	TMEM200C_ENST00000383490.2_Missense_Mutation_p.A12T|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	12						integral to membrane		p.A12T(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGCTTTCTGGCGGAAATCCTT	0.622000													21	39					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963423	88963423	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:88963423G>A	ENST00000333190.4	+	4	1736	c.1127G>A	c.(1126-1128)aGt>aAt	p.S376N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	376						intracellular	zinc ion binding	p.S376I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACAACCATAGTGATGCCAGG	0.388000										HNSCC(36;0.09)			13	36					0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18674850	18674850	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:18674850T>G	ENST00000379984.3	-	3	147	c.107A>C	c.(106-108)aAa>aCa	p.K36T		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	36					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CTTGCATGCTTTTTGGTACCA	0.567000													40	78					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231464	125231464	+	RNA	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:125231464T>C	ENST00000439075.1	-	0	3281					NR_026876.1																						TGCATCCAAATATTTGAAAAG	0.313000													4	28					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75609032	75609032	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:75609032T>C	ENST00000423381.1	-	6	524	c.401A>G	c.(400-402)cAc>cGc	p.H134R	CAMK2G_ENST00000305762.7_Missense_Mutation_p.H134R|CAMK2G_ENST00000394762.2_Missense_Mutation_p.H134R|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000372765.1_Missense_Mutation_p.H134R|CAMK2G_ENST00000351293.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000322635.3_Missense_Mutation_p.H134R|CAMK2G_ENST00000322680.3_Missense_Mutation_p.H134R	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	134	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CAGGTCCCTGTGGACGATGTC	0.512000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	33					0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57857969	57857969	+	Silent	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:57857969C>G	ENST00000556492.1	+	2	448	c.294C>G	c.(292-294)gcC>gcG	p.A98A	NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	98						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TCCGGGCGGCCGCCTCCCTCA	0.692000													9	68					0	0	1	0	0
EMC2	9694	broad.mit.edu	37	8	109482343	109482343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:109482343G>T	ENST00000220853.3	+	7	537	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		TTACATCAATGAACATGAGTA	0.373000													4	39					5.9392e-07	6.53312e-07	1	1	0
ARHGAP10	79658	broad.mit.edu	37	4	148886186	148886186	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:148886186C>G	ENST00000336498.3	+	17	1701	c.1462C>G	c.(1462-1464)Cca>Gca	p.P488A	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.P137A	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	488	Rho-GAP.		P -> S (in dbSNP:rs17024215).		apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGCGGCAGCCCAGAATCTCG	0.308000													14	39					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93624662	93624662	+	Silent	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:93624662A>T	ENST00000394236.3	-	6	883	c.567T>A	c.(565-567)ggT>ggA	p.G189G	PROS1_ENST00000407433.1_Silent_p.G58G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	189	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCATAACAAAACCATTTTTAC	0.318000													8	53					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116353646	116353646	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:116353646G>A	ENST00000374140.2	+	22	3258	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	RGS3_ENST00000394646.3_Missense_Mutation_p.E410K|RGS3_ENST00000462143.1_Missense_Mutation_p.E338K|RGS3_ENST00000374134.3_Missense_Mutation_p.E338K|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.E736K|RGS3_ENST00000350696.5_Missense_Mutation_p.E1017K	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1017					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						GGATGATGACGAAGCCTCCCG	0.572000													16	74					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79213140	79213140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr13:79213140G>A	ENST00000282003.6	-	4	425	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	123							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTTTGATCTGTGACTCCAAG	0.378000													16	52					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120352085	120352085	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:120352085C>T	ENST00000283871.5	-	13	1556	c.1097G>A	c.(1096-1098)aGc>aAc	p.S366N		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	366					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTCATTGTGCTGTGTAGACT	0.557000													5	149					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62753190	62753190	+	RNA	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:62753190G>T	ENST00000331425.6	-	0	245					NR_003952.1																						TGGGTGAAATGGGAATGCGTA	0.353000													23	39					2.39556e-15	2.90638e-15	1	1	0
MPRIP	23164	broad.mit.edu	37	17	17045999	17045999	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:17045999G>C	ENST00000395811.5	+	8	1044	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	MPRIP_ENST00000395804.3_Missense_Mutation_p.E319Q|MPRIP_ENST00000341712.4_Missense_Mutation_p.E319Q|MPRIP_ENST00000444976.1_Missense_Mutation_p.E319Q	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	319	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGAGCACATGGAGACCAATGC	0.617000													15	114					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080673	42080673	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr21:42080673C>A	ENST00000400454.1	-	2	545	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	23					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAGTAGAGGCTGGAGTGTAG	0.517000													34	146					2.80507e-11	3.25941e-11	1	1	0
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	A	G	rs712665	by1000genomes	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:112227799A>G	ENST00000391338.1	+	1	487	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	REEP5_ENST00000513339.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433000													4	72					0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77745121	77745121	+	Silent	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:77745121G>C	ENST00000261534.4	-	19	2185	c.1983C>G	c.(1981-1983)ctC>ctG	p.L661L		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	661					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GGTGGAAGTAGAGGACCCGGC	0.617000													42	63					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69462817	69462817	+	Silent	SNP	C	C	T	rs146267501		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:69462817C>T	ENST00000227507.2	+	4	857	c.630C>T	c.(628-630)gcC>gcT	p.A210A	CCND1_ENST00000536559.1_3'UTR	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	210					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.A210A(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCGTGGTGGCCGCAGTGCAAG	0.597000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			35	251					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:7578443A>G	ENST00000420246.2	-	5	619	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACTGCTTGTAGATGGCCATG	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	71					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78213768	78213768	+	RNA	SNP	C	C	A	rs12904130	by1000genomes	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr15:78213768C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GGCGGCCAGCCAGATCCTTGG	0.542000													5	116					0.00116845	0.00119008	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059535	152059535	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:152059535G>A	ENST00000368806.1	-	3	687	c.623C>T	c.(622-624)aCa>aTa	p.T208I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	208							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGGCTTATTTGTCTTAAGTTG	0.448000													11	69					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946777	70946777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:70946777G>A	ENST00000334414.6	-	21	5211	c.5167C>T	c.(5167-5169)Cag>Tag	p.Q1723*	PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Q1505*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q1415*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1635*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1505	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTGCTGCTGTTCTGGCTTC	0.453000													27	172					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614687	36614687	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:36614687A>G	ENST00000311485.3	-	2	1193	c.1032T>C	c.(1030-1032)taT>taC	p.Y344Y		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	344					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ACATATAGAAATAGAATCCTT	0.383000									Familial Hemophagocytic Lymphohistiocytosis				42	113					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172441	64172441	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:64172441C>T	ENST00000262150.2	-	12	2219	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	643					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCCCCTTCATCATCATATTGG	0.403000													30	171					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146466	154146466	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:154146466C>A	ENST00000389740.2	-	1	1038	c.939G>T	c.(937-939)ttG>ttT	p.L313F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	313						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCGCTAGGATCAAAGCGAAGC	0.572000													41	227					3.43241e-23	4.29052e-23	1	1	0
LYPLAL1	127018	broad.mit.edu	37	1	219366442	219366442	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:219366442A>G	ENST00000366928.5	+	3	257	c.210A>G	c.(208-210)aaA>aaG	p.K70K	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Intron	NM_138794.3	NP_620149.1	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	70						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		CTCCTATGAAAGGAGGAATCT	0.358000													7	25					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17793390	17793390	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:17793390A>T	ENST00000380607.4	+	8	874	c.754A>T	c.(754-756)Aga>Tga	p.R252*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.R205*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	252					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		ATCTCAGCCTAGAAGGGAATA	0.428000													10	33					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815878	31815878	+	Missense_Mutation	SNP	G	G	T	rs142629102		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:31815878G>T	ENST00000446923.2	+	9	3404	c.3013G>T	c.(3013-3015)Gac>Tac	p.D1005Y	ZEB1_ENST00000542815.3_Missense_Mutation_p.D954Y|ZEB1_ENST00000320985.10_Missense_Mutation_p.D1021Y|ZEB1_ENST00000560721.2_Missense_Mutation_p.D1001Y|ZEB1_ENST00000361642.5_Missense_Mutation_p.D1022Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1021	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCACAGGGCGACTCGGACGA	0.527000													4	74					1.23904e-05	1.31898e-05	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227842412	227842412	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:227842412A>C	ENST00000343776.4	+	4	806	c.461A>C	c.(460-462)aAa>aCa	p.K154T	ZNF678_ENST00000397097.3_Missense_Mutation_p.K209T|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	209					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AAACCCTACAAATGTGACGAA	0.358000													22	59					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8998332	8998332	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:8998332C>T	ENST00000344836.4	-	15	1862	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	USP7_ENST00000381886.4_Missense_Mutation_p.R539Q|USP7_ENST00000535863.1_Missense_Mutation_p.R456Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	555					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCGCTCCTTCCGCTTCTGAGC	0.562000													18	89					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845186	32845186	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:32845186A>G	ENST00000311921.3	+	2	1642	c.1450A>G	c.(1450-1452)Agg>Ggg	p.R484G	ZNF507_ENST00000355898.5_Missense_Mutation_p.R484G|ZNF507_ENST00000544431.1_Missense_Mutation_p.R484G|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AGGCCGGAGAAGGACAAATTC	0.478000													19	80					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433280	49433280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:49433280C>A	ENST00000301067.7	-	32	8166	c.8167G>T	c.(8167-8169)Gag>Tag	p.E2723*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGCTGGGCTCAGCACCCCAG	0.627000													5	40					0.184627	0.184627	1	1	0
C11orf73	51501	broad.mit.edu	37	11	86056626	86056626	+	Splice_Site	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:86056626G>A	ENST00000278483.3	+	5	766	c.539_splice	c.e5-1	p.W180_splice	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_3'UTR	NM_016401.3	NP_057485.2	Q53FT3	CK073_HUMAN	chromosome 11 open reading frame 73	180						cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TCTTTTCTAGGTATGAAAACT	0.264000													3	33					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95773967	95773967	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:95773967T>A	ENST00000414645.2	+	8	874	c.775T>A	c.(775-777)Ttt>Att	p.F259I		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	259						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AACTTACACATTTATGATGAT	0.343000													9	38					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40895722	40895722	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:40895722G>A	ENST00000291823.2	-	1	372	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	30	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGCTCCGCCGCCAGCCCTTG	0.607000													25	120					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44942798	44942798	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:44942798A>G	ENST00000377967.4	+	23	3419	c.3378A>G	c.(3376-3378)atA>atG	p.I1126M	KDM6A_ENST00000543216.1_Missense_Mutation_p.I1047M|KDM6A_ENST00000382899.4_Missense_Mutation_p.I1133M|KDM6A_ENST00000536777.1_Missense_Mutation_p.I1081M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1126	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTCATACCATATTGGGCATGA	0.398000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								5	18					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115350182	115350182	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:115350182C>T	ENST00000357872.4	+	16	2532	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		803					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTTCAGCTGTCAAAAGAACTT	0.353000													12	45					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130368004	130368004	+	Silent	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:130368004G>A	ENST00000358511.6	+	32	5362	c.5331G>A	c.(5329-5331)aaG>aaA	p.K1777K	COL6A6_ENST00000453409.2_Silent_p.K1777K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1777	Nonhelical region.|VWFA 8.				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						AGCGGATGAAGGAGATGATGG	0.567000													3	11					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536247	64536247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:64536247G>A	ENST00000355086.3	+	22	3577	c.3053G>A	c.(3052-3054)aGg>aAg	p.R1018K	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R955K|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R995K	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1018					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GTTGCCCTCAGGAGCTCCGAG	0.567000													30	94					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75379336	75379336	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:75379336G>T	ENST00000434603.2	-	1	143	c.79C>A	c.(79-81)Ccg>Acg	p.P27T	MAP6_ENST00000526740.1_Intron|MAP6_ENST00000304771.3_Missense_Mutation_p.P27T	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	27						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AAAACCAGCGGCACAGCGATG	0.701000													11	57					3.07112e-06	3.31199e-06	1	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530401	80530401	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:80530401G>T	ENST00000295057.3	-	2	1200	c.544C>A	c.(544-546)Cag>Aag	p.Q182K	LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q182K|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	182						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGGCAGTCCTGGAAGATGCGC	0.612000										HNSCC(69;0.2)			27	108					2.79863e-10	3.22919e-10	1	1	0
DSP	1832	broad.mit.edu	37	6	7569505	7569505	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:7569505C>G	ENST00000379802.3	+	12	1847	c.1506C>G	c.(1504-1506)gaC>gaG	p.D502E	DSP_ENST00000418664.2_Missense_Mutation_p.D502E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	502	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGCGTTGACATGCTTGTTC	0.557000													28	115					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865902	140865902	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:140865902C>T	ENST00000306593.1	+	1	1162	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGCCTCCGCATTCCTGA	0.557000													22	82					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154194412	154194412	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:154194412A>G	ENST00000360256.4	-	9	1476	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	426	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGACTTTTATAACTTCTGTAT	0.358000													22	22					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	26995540	26995540	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:26995540G>C	ENST00000215939.2	-	6	803	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	225	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GACTGCATCTGTGGCTGGAAG	0.617000													28	93					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278481	130278481	+	Silent	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:130278481G>A	ENST00000257359.6	-	8	2683	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	659	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGACACACTGGCCACGGACAC	0.602000													10	149					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957810	12957810	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:12957810G>C	ENST00000276297.4	-	9	2445	c.2036C>G	c.(2035-2037)tCc>tGc	p.S679C	DLC1_ENST00000520226.1_Missense_Mutation_p.S168C|DLC1_ENST00000358919.2_Missense_Mutation_p.S242C|DLC1_ENST00000512044.2_Missense_Mutation_p.S276C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	679					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGTGATGGGAGCTCTTGAG	0.547000													31	149					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39716680	39716680	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:39716680C>G	ENST00000395670.3	-	26	3880	c.3461G>C	c.(3460-3462)cGa>cCa	p.R1154P	KIF21A_ENST00000544797.2_Missense_Mutation_p.R1134P|KIF21A_ENST00000361418.5_Missense_Mutation_p.R1154P|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1118P|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1141P			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1154					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1141Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTTCTCCTTCGGGCCTAGTC	0.438000													21	90					0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69145934	69145934	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:69145934A>T	ENST00000398004.2	+	3	908	c.636A>T	c.(634-636)gaA>gaT	p.E212D	SLC35E3_ENST00000538043.1_3'UTR	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	212						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGTTTGGAGAAGGAGGAATAT	0.403000													48	193					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11332404	11332404	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:11332404C>T	ENST00000315872.6	-	32	4481	c.4033G>A	c.(4033-4035)Gtg>Atg	p.V1345M	ROCK2_ENST00000401753.1_Missense_Mutation_p.V1102M	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1345	PH.				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)		ATCTTTTTCACCAACCGACTA	0.393000													8	180					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493868	170493868	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:170493868A>C	ENST00000260970.3	+	14	2320	c.2100A>C	c.(2098-2100)gaA>gaC	p.E700D	PPIG_ENST00000448752.2_Missense_Mutation_p.E700D|PPIG_ENST00000409714.3_Missense_Mutation_p.E685D	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	700					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AGGACAATGAATTAAAGTCCT	0.353000													8	30					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865171	51865171	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:51865171T>C	ENST00000453097.2	+	14	1976	c.1759T>C	c.(1759-1761)Tgc>Cgc	p.C587R	SLC4A8_ENST00000535225.2_Missense_Mutation_p.C534R|SLC4A8_ENST00000514353.3_Missense_Mutation_p.C534R|SLC4A8_ENST00000394856.1_Missense_Mutation_p.C534R|SLC4A8_ENST00000358657.3_Missense_Mutation_p.C614R|SLC4A8_ENST00000546663.1_3'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	587					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)		TTCCCTTGTCTGCTACATTAC	0.443000													37	159					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55169180	55169180	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:55169180C>T	ENST00000251091.5	+	2	902	c.597C>T	c.(595-597)tgC>tgT	p.C199C	SAMD4A_ENST00000392067.3_Silent_p.C199C|SAMD4A_ENST00000357634.3_Silent_p.C198C|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000554335.1_Silent_p.C199C	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	199					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CTGGGATTTGCATCAATGCCT	0.498000													47	82					0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29923609	29923609	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:29923609G>C	ENST00000256255.6	-	5	1146	c.889C>G	c.(889-891)Ccc>Gcc	p.P297A	TMEM66_ENST00000545648.1_Missense_Mutation_p.P125A|TMEM66_ENST00000536273.1_Missense_Mutation_p.P125A	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	297						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGGTAGGAGGGAGGATAGGAC	0.478000													26	170					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54176347	54176347	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:54176347C>A	ENST00000404125.1	-	2	371	c.316G>T	c.(316-318)Gta>Tta	p.V106L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	106					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAATTGATACCAGCTCATAC	0.338000													14	55					0.000151284	0.000158993	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39230516	39230516	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:39230516G>T	ENST00000340369.3	-	2	649	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.Q141K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	141							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTGGCTCCTGGTCTGTGCTG	0.617000													15	80					6.31663e-08	7.04219e-08	1	1	0
EEF2K	29904	broad.mit.edu	37	16	22269984	22269984	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:22269984C>T	ENST00000263026.5	+	10	1673	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	400					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCATCTTCGGCCACACCACAC	0.592000													19	138					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44751275	44751275	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:44751275G>A	ENST00000372285.3	+	4	355	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Missense_Mutation_p.G95S	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	95					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CCAGCAGAAGGGCACCTCAGA	0.607000									Immune Deficiency with Hyper-IgM				16	92					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045125	193045125	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:193045125A>G	ENST00000367446.3	+	3	966	c.756A>G	c.(754-756)agA>agG	p.R252R	TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000367443.1_Silent_p.R252R|TROVE2_ENST00000367444.3_Silent_p.R252R|TROVE2_ENST00000400968.2_Silent_p.R252R|TROVE2_ENST00000367445.3_Silent_p.R252R|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367441.1_Silent_p.R252R	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	252	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AAGAACATAGATTAGTTAGAG	0.333000													10	37					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78973658	78973658	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:78973658C>T	ENST00000545128.1	+	37	5941	c.5403C>T	c.(5401-5403)agC>agT	p.S1801S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	618					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGAGCACCAGCTTTGAAGAGG	0.522000													49	178					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:3188882C>T	ENST00000400569.3	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K			P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517000													5	129					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40899910	40899910	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:40899910G>T	ENST00000324001.7	-	7	4619	c.4349C>A	c.(4348-4350)cCg>cAg	p.P1450Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1450					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CATCCTGGCCGGGCCTGGAGC	0.647000													22	102					1.50039e-11	1.75578e-11	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143090948	143090948	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:143090948G>C	ENST00000367603.2	-	5	5670	c.4928C>G	c.(4927-4929)aCa>aGa	p.T1643R	HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1643R|HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1643R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGTAGTTGTTGTCCGCAGACT	0.493000													27	89					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067988	5067988	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:5067988C>A	ENST00000380370.1	+	1	233	c.233C>A	c.(232-234)aCc>aAc	p.T78N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTCTACAACCTCTGTGCCT	0.498000													18	57					5.3912e-06	5.77629e-06	1	1	0
AMZ2	51321	broad.mit.edu	37	17	66247027	66247027	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:66247027C>A	ENST00000359904.3	+	3	1508	c.376C>A	c.(376-378)Ctc>Atc	p.L126I	AMZ2_ENST00000392720.2_Missense_Mutation_p.L126I|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000580753.1_Missense_Mutation_p.L126I|AMZ2_ENST00000577985.1_Missense_Mutation_p.L126I|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000577273.1_Missense_Mutation_p.L126I|AMZ2_ENST00000577866.1_Missense_Mutation_p.L126I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	126							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGAGTAAAACTCCTAGAACC	0.383000													5	42					0.000602214	0.000621034	1	1	0
FLRT3	23767	broad.mit.edu	37	20	14306847	14306847	+	Silent	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:14306847A>G	ENST00000378053.3	-	2	1562	c.1306T>C	c.(1306-1308)Ttg>Ctg	p.L436L	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L436L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	436	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGAGTCTCAAAGCAGTCATA	0.448000													33	138					0	0	1	0	0
TPPP3	51673	broad.mit.edu	37	16	67424190	67424190	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:67424190C>T	ENST00000564104.1	-	3	1259	c.418G>A	c.(418-420)Gat>Aat	p.D140N	TPPP3_ENST00000393957.2_Missense_Mutation_p.D140N|TPPP3_ENST00000290942.5_Missense_Mutation_p.D140N|TPPP3_ENST00000562206.1_Missense_Mutation_p.D140N			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	140					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CCGCTCTCATCGAAGCGCTCC	0.592000													33	262					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44127899	44127899	+	Splice_Site	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:44127899C>T	ENST00000262419.6	-	7	2490	c.2020_splice	c.e7+1	p.D674_splice	KANSL1_ENST00000432791.1_Splice_Site_p.D674_splice|KANSL1_ENST00000393476.3_Splice_Site_p.D31_splice|KANSL1_ENST00000575318.1_Splice_Site_p.D674_splice|KANSL1_ENST00000574590.1_Splice_Site_p.D674_splice|KANSL1_ENST00000572904.1_Splice_Site_p.D674_splice	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	674						MLL1 complex	protein binding										TCTTTCTTACCATCTGGAAAT	0.428000													9	36					0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233139	56233139	+	RNA	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:56233139C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							ATCTTCTGGCCGACAGTGCGA	0.582000													6	21					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390621	124390621	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:124390621G>T	ENST00000368909.3	+	46	5889	c.5783G>T	c.(5782-5784)gGg>gTg	p.G1928V	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1918V|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1300V|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1918V|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1300V|DMBT1_ENST00000359586.6_Missense_Mutation_p.G648V|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1928V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1928	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACAGCTAGGGTGTGGACGT	0.552000													15	88					7.93312e-07	8.66864e-07	1	1	0
NUP155	9631	broad.mit.edu	37	5	37348606	37348606	+	Splice_Site	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:37348606C>G	ENST00000231498.3	-	9	1199		c.e9+1		NUP155_ENST00000513532.1_Splice_Site|NUP155_ENST00000381843.2_Splice_Site	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTACATGTTACCTAGCAATGT	0.363000													11	121					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57843655	57843655	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:57843655C>G	ENST00000264230.4	-	1	1334	c.97G>C	c.(97-99)Gag>Cag	p.E33Q		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	33							GTP binding										CACCTCCTCTCCAGGAGCGGC	0.662000													13	59					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375967	375967	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:375967C>T	ENST00000342640.4	-	1	46	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	THEG_ENST00000346878.2_Missense_Mutation_p.G2R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	2					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGTCCCCCATACACCGG	0.687000													6	64					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													4	36					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66977254	66977254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:66977254G>A	ENST00000317091.4	+	11	2649	c.1665G>A	c.(1663-1665)tgG>tgA	p.W555*	CES2_ENST00000417689.1_Nonsense_Mutation_p.W539*|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	491					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGAAGTACTGGGCCAACTTTG	0.532000													47	65					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155569309	155569309	+	Silent	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:155569309G>C	ENST00000461783.3	+	22	5101	c.3828G>C	c.(3826-3828)ctG>ctC	p.L1276L	TIAM2_ENST00000275246.7_Silent_p.L201L|TIAM2_ENST00000360366.4_Silent_p.L1300L|TIAM2_ENST00000456877.2_Silent_p.L588L|TIAM2_ENST00000456144.1_Silent_p.L1276L|TIAM2_ENST00000318981.5_Silent_p.L1276L|TIAM2_ENST00000367174.2_Silent_p.L652L|TIAM2_ENST00000528391.2_Silent_p.L612L|TIAM2_ENST00000529824.2_Silent_p.L1276L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1276	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACTACCACCTGACGGGTGAGG	0.692000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	41					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852173	97852173	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:97852173T>C	ENST00000354565.2	+	1	632	c.632T>C	c.(631-633)aTt>aCt	p.I211T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTATTCAGCATTGTGACTATT	0.333000													12	41					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172928539	172928539	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:172928539C>T	ENST00000315796.4	+	3	686	c.299C>T	c.(298-300)gCt>gTt	p.A100V	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	100					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CTTCATCAGGCTTGTCAGCTG	0.498000													10	58					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24346709	24346709	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr8:24346709C>A	ENST00000175238.6	+	12	1212	c.1129C>A	c.(1129-1131)Caa>Aaa	p.Q377K	ADAM7_ENST00000520720.1_Missense_Mutation_p.Q149K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.Q377K	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	377	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			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)		CAGCCAAAACCAATACCACCA	0.353000													7	67					0.000442599	0.000462208	1	1	0
COX10	1352	broad.mit.edu	37	17	13980128	13980128	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:13980128A>G	ENST00000261643.3	+	3	331	c.254A>G	c.(253-255)gAa>gGa	p.E85G	COX10_ENST00000429152.2_Missense_Mutation_p.E85G|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	85					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCTTTCCTTGAAAAAACATCT	0.428000													16	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542634	179542634	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:179542634T>A	ENST00000589042.1	-	146	34229	c.34005A>T	c.(34003-34005)aaA>aaT	p.K11335N	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10091N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11018N|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11018	Glu-rich.|Pro-rich.						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)			CTGGTTCACGTTTCTTTGGCA	0.363000													21	50					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150027813	150027813	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:150027813C>T	ENST00000394243.1	+	3	1082	c.708C>T	c.(706-708)ccC>ccT	p.P236P	SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000522122.1_Silent_p.P236P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	236					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGAGCCCCGACAGAGGGG	0.672000													3	46					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4446697	4446697	+	Silent	SNP	G	G	A	rs145906971		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:4446697G>A	ENST00000301281.6	-	8	844	c.720C>T	c.(718-720)taC>taT	p.Y240Y	UBXN6_ENST00000394765.3_Silent_p.Y187Y	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	240	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CGCTCAGCACGTAGAACTCCT	0.677000													22	64					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52163651	52163651	+	Splice_Site	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:52163651G>A	ENST00000354534.5	+	18	3550		c.e18-1		SCN8A_ENST00000545061.1_Splice_Site	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCGTGTCTAGAAACTAGATG	0.527000													3	9					0	0	1	0	0
POLR2J	5439	broad.mit.edu	37	7	102119269	102119269	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:102119269G>C	ENST00000292614.5	-	1	85	c.39C>G	c.(37-39)ttC>ttG	p.F13L	POLR2J_ENST00000393794.3_Missense_Mutation_p.F13L	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	13					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(2)	2						TCTCGCCCTCGAAGAGCAAGA	0.687000											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	60					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558696	140558696	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:140558696G>T	ENST00000239444.2	+	1	1326	c.1081G>T	c.(1081-1083)Gcg>Tcg	p.A361S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		361	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGAGAATGCGCCTGAAAC	0.448000													49	679					1.51926e-22	1.88479e-22	1	1	0
EBNA1BP2	10969	broad.mit.edu	37	1	43637223	43637223	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:43637223C>T	ENST00000431635.2	-	4	563	c.415G>A	c.(415-417)Gag>Aag	p.E139K	EBNA1BP2_ENST00000472982.1_5'UTR|EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.E84K	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	84					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGGCGCCTCAGATCCACCG	0.498000													37	224					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483148	36483148	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:36483148C>T	ENST00000342292.4	-	11	6324	c.6304G>A	c.(6304-6306)Gag>Aag	p.E2102K	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2102						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTGCCTCAGAACTGCCT	0.602000													41	147					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286879	55286879	+	Silent	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:55286879G>A	ENST00000336077.6	+	4	673	c.633G>A	c.(631-633)aaG>aaA	p.K211K	KIR2DL1_ENST00000291633.7_Silent_p.K211K|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	211					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTGGTCAAAGTCAAGTGACC	0.547000													6	82					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3729034	3729034	+	Silent	SNP	T	T	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr20:3729034T>G	ENST00000254963.2	+	8	991	c.846T>G	c.(844-846)cgT>cgG	p.R282R	HSPA12B_ENST00000542646.1_Silent_p.R116R	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	282							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCAGCTTCCGTCAGGGTGAGC	0.672000													10	47					0	0	1	0	0
YY1	7528	broad.mit.edu	37	14	100705835	100705835	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:100705835C>G	ENST00000262238.4	+	1	514	c.254C>G	c.(253-255)gCt>gGt	p.A85G		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	85					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCATGATCGCTCTGCAGCCG	0.736000													26	39					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703894	60703894	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:60703894A>T	ENST00000005286.4	+	11	2743	c.2590A>T	c.(2590-2592)Atc>Ttc	p.I864F	TMEM132A_ENST00000453848.2_Missense_Mutation_p.I863F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	863	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCCATCTTCATCTTCTTGGT	0.602000													54	240					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95405034	95405034	+	Splice_Site	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:95405034C>T	ENST00000287996.3	-	7	839	c.563_splice	c.e7+1	p.G188_splice		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	188					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						GTTCTCTTACCCTGAGTAGAG	0.557000													14	79					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55614214	55614214	+	Silent	SNP	T	T	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:55614214T>A	ENST00000294383.6	-	17	1889	c.1890A>T	c.(1888-1890)gtA>gtT	p.V630V	USP24_ENST00000407756.1_Silent_p.V470V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	630					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTACCACCCATACAAACTGGG	0.318000													3	10					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23297809	23297809	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:23297809C>G	ENST00000298032.5	+	16	2078	c.1994C>G	c.(1993-1995)tCt>tGt	p.S665C	ARMC3_ENST00000409983.3_Missense_Mutation_p.S658C|ARMC3_ENST00000409049.3_Missense_Mutation_p.S665C|ARMC3_ENST00000376528.4_Missense_Mutation_p.S402C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	665							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGCCAGCTTCTGGACGAAAT	0.413000													5	13					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967437	142967437	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chrX:142967437C>A	ENST00000370494.1	+	1	265	c.235C>A	c.(235-237)Cca>Aca	p.P79T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	79							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AATTTATCATCCAAATGTAGA	0.423000													54	58					1.07234e-20	1.32042e-20	1	1	0
LIPF	8513	broad.mit.edu	37	10	90433492	90433492	+	Splice_Site	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr10:90433492G>T	ENST00000394375.3	+	8	959		c.e8+1		LIPF_ENST00000238983.4_Splice_Site|LIPF_ENST00000355843.2_Splice_Site	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric						lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CTTTAACACGGTTAGTATGCA	0.358000													23	103					1.85244e-09	2.12259e-09	1	1	0
SLC25A42	284439	broad.mit.edu	37	19	19221647	19221647	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:19221647G>T	ENST00000318596.7	+	8	1070	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	307					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CACCACCTTCGACCTCATGCA	0.632000													9	67					0.000673444	0.000690176	1	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	31					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886020	24886020	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr14:24886020G>A	ENST00000382554.3	+	9	5383	c.5065G>A	c.(5065-5067)Gtc>Atc	p.V1689I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1689	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCCGGCACGTCCTTGTGAG	0.657000													7	38					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48356756	48356756	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:48356756C>T	ENST00000435803.1	+	27	9886	c.9862C>T	c.(9862-9864)Ccg>Tcg	p.P3288S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3288					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAACAGCACCGTTTTGCTT	0.363000													3	17					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607501	110607501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:110607501G>A	ENST00000369792.4	-	2	389	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGAAGCTGGCAGCTTTGGA	0.617000													7	50					0	0	1	0	0
NUDT1	4521	broad.mit.edu	37	7	2290500	2290500	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:2290500C>T	ENST00000397049.1	+	5	506	c.404C>T	c.(403-405)cCc>cTc	p.P135L	NUDT1_ENST00000397046.1_Missense_Mutation_p.P112L|NUDT1_ENST00000397048.1_Missense_Mutation_p.P135L|NUDT1_ENST00000343985.4_Missense_Mutation_p.P135L|NUDT1_ENST00000339737.2_Missense_Mutation_p.P112L|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000356714.1_Missense_Mutation_p.P112L	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	153	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GATCAGATCCCCTTCAAGGAC	0.512000								Modulation of nucleotide pools					65	298					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57500358	57500358	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:57500358G>C	ENST00000300134.3	-	6	809	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	STAT6_ENST00000454075.3_Missense_Mutation_p.L162V|STAT6_ENST00000543873.2_Missense_Mutation_p.L162V|STAT6_ENST00000556155.1_Missense_Mutation_p.L162V|STAT6_ENST00000538913.2_Missense_Mutation_p.L52V|STAT6_ENST00000537215.2_Missense_Mutation_p.L52V	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	162					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L162L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGCTGTGCAGAGACACTGAG	0.522000													30	108					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10529410	10529410	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr6:10529410C>G	ENST00000379597.3	+	1	822	c.266C>G	c.(265-267)tCt>tGt	p.S89C	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.S89C|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	89						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAAACACTCTCTGAAGAAGAG	0.428000													26	119					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26190204	26190204	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:26190204A>T	ENST00000374296.3	-	2	793	c.127T>A	c.(127-129)Tgg>Agg	p.W43R		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	43					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TACGGCTTCCAGAAGAGCGGC	0.617000													32	128					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543057	14543057	+	Missense_Mutation	SNP	T	T	G	rs9807633	by1000genomes	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr18:14543057T>G	ENST00000358970.5	-	1	88	c.89A>C	c.(88-90)cAc>cCc	p.H30P	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	30			H -> P (in dbSNP:rs9807633).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGGGAAGCGGTGGTGAAACCA	0.537000													7	211					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745758	77745758	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:77745758C>T	ENST00000409088.3	-	3	1651	c.1237G>A	c.(1237-1239)Gca>Aca	p.A413T	LRRTM4_ENST00000409093.1_Missense_Mutation_p.A413T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A414T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A414T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A413T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	413						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTTGCTCTGCGCCAGGAATC	0.478000													15	56					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94732029	94732029	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:94732029T>G	ENST00000335080.5	+	3	2325	c.1493T>G	c.(1492-1494)aTg>aGg	p.M498R	KDM4D_ENST00000536741.1_Missense_Mutation_p.M498R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	498					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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGGGCTTTGATGGACAAGCCT	0.612000													6	55					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14640495	14640495	+	Translation_Start_Site	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:14640495C>A	ENST00000436007.2	+	0	89				TECR_ENST00000596073.1_De_novo_Start_InFrame|TECR_ENST00000600083.1_De_novo_Start_InFrame|TECR_ENST00000215567.5_De_novo_Start_OutOfFrame			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase						fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CAGTAGCCGCCGTGGGAGGGA	0.622000													15	82					1.02788e-11	1.21143e-11	1	1	0
UCP1	7350	broad.mit.edu	37	4	141484647	141484647	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:141484647A>C	ENST00000262999.3	-	3	426	c.351T>G	c.(349-351)atT>atG	p.I117M		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	117					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GACCAGCTAAAATCTTGCTTC	0.398000													14	69					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52712550	52712550	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:52712550G>A	ENST00000356770.4	-	2	204	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	PBRM1_ENST00000394830.3_Missense_Mutation_p.L68F|PBRM1_ENST00000296302.7_Missense_Mutation_p.L68F|PBRM1_ENST00000337303.4_Missense_Mutation_p.L68F|PBRM1_ENST00000410007.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409767.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409057.1_Missense_Mutation_p.L68F|PBRM1_ENST00000409114.3_Missense_Mutation_p.L68F			Q86U86	PB1_HUMAN	polybromo 1	68	Bromo 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGCTCACAGAGAAGTCTGCCC	0.433000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								17	58					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377679	44377679	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:44377679G>C	ENST00000587539.1	-	3	686	c.687C>G	c.(685-687)caC>caG	p.H229Q	ZNF404_ENST00000324394.6_Missense_Mutation_p.H227Q	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GTTCTGTAAGGTGAGAATGAC	0.373000													19	84					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196388110	196388110	+	Silent	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:196388110C>T	ENST00000328557.4	+	3	1799	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CGTTGGACTTCTCTGGGTTTG	0.577000													55	303					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	396885	396885	+	Silent	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr16:396885C>A	ENST00000262320.3	-	2	512	c.141G>T	c.(139-141)ggG>ggT	p.G47G	AXIN1_ENST00000354866.3_Silent_p.G47G|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	47					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)				CAACACCTTTCCCGGAGCAGA	0.627000											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	79					1.3612e-06	1.47762e-06	1	1	0
PTCH2	8643	broad.mit.edu	37	1	45288991	45288991	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:45288991G>A	ENST00000447098.2	-	20	3192	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	PTCH2_ENST00000372192.3_Missense_Mutation_p.P1061S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	1061					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCGGTCACGGGGGCAAATGTG	0.617000									Basal Cell Nevus syndrome				29	85					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670178	131670178	+	Silent	SNP	G	G	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr9:131670178G>A	ENST00000259324.5	+	3	1258	c.735G>A	c.(733-735)gaG>gaA	p.E245E	LRRC8A_ENST00000372600.4_Silent_p.E245E|LRRC8A_ENST00000372599.3_Silent_p.E245E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	245					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGCTGTTTGAGAAGGTGAAGA	0.572000													23	129					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326712	57326712	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:57326712C>A	ENST00000326441.9	-	10	3461	c.3098G>T	c.(3097-3099)tGt>tTt	p.C1033F	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C1033F|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C907F|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C909F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1033					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1033F(2)		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)		GAAGTCCTTACATTTGTTCCG	0.468000													22	54					7.45023e-12	8.84379e-12	1	1	0
SMARCAD1	56916	broad.mit.edu	37	4	95206114	95206114	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr4:95206114A>T	ENST00000354268.4	+	23	2986	c.2913A>T	c.(2911-2913)gaA>gaT	p.E971D	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E973D|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E541D			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	971	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTTTAGAGAAGTACTAGTTA	0.264000													6	37					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36976181	36976181	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr5:36976181C>T	ENST00000282516.8	+	9	1671	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P391L|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	391					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATGATATTCCTTTTAATGTG	0.398000													22	156					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92613293	92613293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:92613293delA	ENST00000342818.3	+	9	1308	c.1072delA	c.(1072-1074)tafs	p.I358fs	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	358						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTTTGCAAATATACCTCCTGA	0.308													8	21	---	---	---	---					
UCK2	7371	broad.mit.edu	37	1	165859553	165859554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr1:165859553_165859554insG	ENST00000367879.4	+	2	515_516	c.212_213insG	c.(211-213)gcafs	p.A71fs	UCK2_ENST00000372212.4_Frame_Shift_Ins_p.A71fs	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	71					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTACCTCGGAGCAGAAGGCCA	0.554													21	83	---	---	---	---					
TCF7L1	83439	broad.mit.edu	37	2	85536400	85536401	+	Frame_Shift_Ins	INS	-	-	CAGC			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr2:85536400_85536401insCAGC	ENST00000282111.3	+	12	1857_1858	c.1582_1583insCAGC	c.(1582-1584)agcfs	p.S528fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	528					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GGCTAAGGCTGCAGCCTCCTCC	0.688													14	98	---	---	---	---					
DAG1	1605	broad.mit.edu	37	3	49569008	49569018	+	Frame_Shift_Del	DEL	CTCCTCCAGTC	CTCCTCCAGTC	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:49569008_49569018delCTCCTCCAGTC	ENST00000545947.1	+	6	1786_1796	c.1064_1074delCTCCTCCAGTC	c.(1063-1074)gfs	p.APPV355fs	DAG1_ENST00000539901.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000541308.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.APPV355fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.APPV355fs	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	355	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGACCATGGCTCCTCCAGTCAGGGATCCTG	0.611													44	155	---	---	---	---					
CRYBG3	131544	broad.mit.edu	37	3	97660083	97660083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr3:97660083delG	ENST00000182096.4	+	17	2817	c.2753delG	c.(2752-2754)tcfs	p.C918fs	CRYBG3_ENST00000389622.2_Frame_Shift_Del_p.C125fs|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ACATCTGTGTGCATTTCTCCC	0.458													27	105	---	---	---	---					
PMS2P3	5387	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						TCCTTTGGGGatatatatatat	0.302													2	4	---	---	---	---					
MARK2	2011	broad.mit.edu	37	11	63668492	63668494	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr11:63668492_63668494delACA	ENST00000402010.2	+	11	1631_1633	c.1052_1054delACA	c.(1051-1056)tac>t	p.YN351del	MARK2_ENST00000513765.2_In_Frame_Del_p.YN318del|MARK2_ENST00000315032.8_In_Frame_Del_p.YN351del|MARK2_ENST00000425897.2_In_Frame_Del_p.YN318del|MARK2_ENST00000377809.4_In_Frame_Del_p.YN351del|MARK2_ENST00000509502.2_In_Frame_Del_p.YN318del|MARK2_ENST00000502399.3_In_Frame_Del_p.YN351del|MARK2_ENST00000350490.7_In_Frame_Del_p.YN351del|MARK2_ENST00000361128.5_In_Frame_Del_p.YN351del|MARK2_ENST00000408948.3_In_Frame_Del_p.YN318del|MARK2_ENST00000377810.3_In_Frame_Del_p.YN318del|MARK2_ENST00000508192.1_In_Frame_Del_p.YN351del|MARK2_ENST00000413835.2_In_Frame_Del_p.YN351del	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	351	UBA.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCAGAGATACAACGAGGTGAT	0.576													19	128	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													12	241	---	---	---	---					
BUB1B	701	broad.mit.edu	37	15	40494877	40494878	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr15:40494877_40494878delTG	ENST00000287598.6	+	14	1911_1912	c.1716_1717delTG	c.(1714-1719)gatgfs	p.DV572fs	BUB1B_ENST00000412359.3_Frame_Shift_Del_p.DV586fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	572					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CAAATGAAGATGTGTCTCCAGA	0.406			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				23	122	---	---	---	---					
PFN1	5216	broad.mit.edu	37	17	4849956	4849957	+	Frame_Shift_Ins	INS	-	-	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr17:4849956_4849957insG	ENST00000225655.5	-	2	910_911	c.291_292insC	c.(289-294)ccccttfs	p.L98fs	PFN1_ENST00000574872.1_Frame_Shift_Ins_p.L62fs	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	98					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACATTGAAGGTGGGGGCCCCAC	0.515													38	160	---	---	---	---					
FZR1	51343	broad.mit.edu	37	19	3526180	3526181	+	Splice_Site	INS	-	-	G			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr19:3526180_3526181insG	ENST00000441788.2	+	4	494_495	c.259_splice	c.e4+1	p.R87_splice	FZR1_ENST00000313639.8_Splice_Site_p.R87_splice|FZR1_ENST00000395095.3_Splice_Site_p.R87_splice	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	87					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAACGGCAAAGGTTAGGGTCC	0.653													11	80	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:30742328_30742330delCTG	ENST00000215793.7	-	3	518_520	c.364_366delCAG	c.(364-366)del	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													7	200	---	---	---	---					
CENPM	79019	broad.mit.edu	37	22	42335078	42335078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-8568-01A-11D-2394-08	TCGA-D6-8568-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1a689ed-47f9-4997-aa83-70ba0cf0ff15	bc5fd9a6-9143-4e20-aead-adaefe76bad9	g.chr22:42335078delG	ENST00000402338.1	-	5	664	c.423delC	c.(421-423)ccfs	p.P141fs	CENPM_ENST00000215980.5_Frame_Shift_Del_p.P175fs|CENPM_ENST00000404067.1_3'UTR|CENPM_ENST00000472374.2_Frame_Shift_Del_p.P53fs|CENPM_ENST00000407253.3_3'UTR			Q9NSP4	CENPM_HUMAN	centromere protein M	175					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						CCTCCAGGGAGGGGCCCTCAG	0.632													11	79	---	---	---	---