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
CCDC88A	55704	broad.mit.edu	37	2	55646180	55646180	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:55646180C>G	ENST00000436346.1	-	1	877	c.36G>C	c.(34-36)caG>caC	p.Q12H	CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q12H|CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q12H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q12H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	12					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGTCATGAACTGCTCCAGAA	0.423000													11	36					0	0	0.105934	0	0
FCGBP	8857	broad.mit.edu	37	19	40421091	40421091	+	Splice_Site	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:40421091C>A	ENST00000221347.6	-	5	2837		c.e5+1			NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein							extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCGCTCACCAGCACTTGC	0.682000													6	40					0.0293803	0.0303729	0.029380	1	0
UGT1A1	54658	broad.mit.edu	37	2	234669637	234669637	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:234669637C>T	ENST00000360418.3	+	1	704	c.704C>T	c.(703-705)tCa>tTa	p.S235L	UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.S235L|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron			P22309	UD11_HUMAN		235					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCCTTGCCTCAGAATTCCTT	0.493000													9	157					0	0	0.047766	0	0
MIR30D	407033	broad.mit.edu	37	8	135817175	135817175	+	RNA	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:135817175A>G	ENST00000362283.1	-	0	13					NR_029599.1																						CCAGTCGGGGATGTTTACAAC	0.388000													3	56					0	0	0.004672	0	0
COL11A1	1301	broad.mit.edu	37	1	103355112	103355112	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:103355112G>A	ENST00000358392.2	-	59	4716	c.4399C>T	c.(4399-4401)Cct>Tct	p.P1467S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1455S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1339S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1416S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1455	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTAAACCAGGATGTCCCTTT	0.388000													3	45					0	0	0.004672	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180780	142180780	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:142180780G>T	ENST00000390368.2	-	0	144																											TGGAATTTTGGGGTCTGAGTG	0.517000													49	173					1.00776e-21	1.45459e-21	0.048971	1	0
ZNF831	128611	broad.mit.edu	37	20	57766574	57766574	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:57766574C>T	ENST00000371030.2	+	1	500	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	167						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGTCCCACACGGGTGAGAGG	0.612000													8	158					0	0	0.038147	0	0
SAMD4B	55095	broad.mit.edu	37	19	39871697	39871697	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:39871697G>A	ENST00000314471.6	+	14	2951	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R639H	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	639							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTGCAGCGCACCCACTCG	0.607000													5	72					0	0	0.014758	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364702	142364702	+	RNA	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:142364702A>G	ENST00000390397.2	+	0	373																											CTGTGCCACCAGTGATTTGCA	0.517000													12	60					0	0	0.093190	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	44					0	0	0.021553	0	0
ITPR2	3709	broad.mit.edu	37	12	26810659	26810659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:26810659C>A	ENST00000381340.3	-	18	2589	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	725					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTAAGAACTTCTAAGTCAGCT	0.398000													13	75					1.5842e-08	2.05409e-08	0.105934	1	0
C8orf34	116328	broad.mit.edu	37	8	69351791	69351791	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:69351791G>A	ENST00000337103.4	+	1	1644	c.52G>A	c.(52-54)Gac>Aac	p.D18N	C8orf34_ENST00000539993.1_Missense_Mutation_p.D43N|C8orf34_ENST00000348340.2_Missense_Mutation_p.D43N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D129N|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000523686.1_Missense_Mutation_p.D43N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	43					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATTTCTCATTGACCATCTTCA	0.388000													4	29					0	0	0.014758	0	0
BMPER	168667	broad.mit.edu	37	7	34125511	34125511	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:34125511G>T	ENST00000297161.2	+	14	1926	c.1552G>T	c.(1552-1554)Gat>Tat	p.D518Y	BMPER_ENST00000426693.1_Missense_Mutation_p.D518Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	518	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.D518H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTTCAAGTTTGATGTGGATGA	0.483000													17	72					3.32936e-07	4.1414e-07	0.038395	1	0
NYAP2	57624	broad.mit.edu	37	2	226446708	226446708	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:226446708C>A	ENST00000272907.6	+	4	988	c.575C>A	c.(574-576)cCt>cAt	p.P192H	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	192																	AAGATTCCTCCTCCCAAACCG	0.473000													32	161					3.99451e-17	5.65889e-17	0.041601	1	0
TMEM179B	374395	broad.mit.edu	37	11	62554927	62554927	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:62554927C>T	ENST00000333449.4	+	1	29	c.24C>T	c.(22-24)cgC>cgT	p.R8R	TMEM179B_ENST00000533861.1_Silent_p.R8R|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	8						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GGCTGCAGCGCGTCGAGCTTG	0.726000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	18					0	0	0.004672	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715378	222715378	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:222715378C>A	ENST00000343410.6	-	3	1152	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	365					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAAACAGGCCAAAGGGATC	0.537000													20	51					4.54149e-19	6.4939e-19	0.069288	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	27					0	0	0.080935	0	0
SPATA7	55812	broad.mit.edu	37	14	88857734	88857734	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr14:88857734C>T	ENST00000556553.1	+	3	588	c.29C>T	c.(28-30)aCc>aTc	p.T10I	SPATA7_ENST00000356583.5_Missense_Mutation_p.T10I|SPATA7_ENST00000045347.7_Missense_Mutation_p.T10I|SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000393545.4_Missense_Mutation_p.T10I			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	10					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTCAGAGCAACCTCTGTCCTT	0.318000													3	14					0	0	0.004672	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64960080	64960080	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:64960080C>A	ENST00000399438.3	+	12	1360	c.1015C>A	c.(1015-1017)Ctg>Atg	p.L339M	TRAPPC13_ENST00000438419.2_Missense_Mutation_p.L340M|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.L341M|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.L334M|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.L333M	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		GACTATGGATCTGGTTTTGGA	0.413000													24	115					8.24728e-16	1.15765e-15	0.099896	1	0
NTNG1	22854	broad.mit.edu	37	1	107937934	107937934	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:107937934G>A	ENST00000370067.1	+	4	1673	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	NTNG1_ENST00000370066.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370071.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370068.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370072.3_Missense_Mutation_p.G349D|NTNG1_ENST00000370073.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370074.4_Missense_Mutation_p.G349D|NTNG1_ENST00000542803.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370070.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370061.3_Missense_Mutation_p.G349D|NTNG1_ENST00000370065.1_Missense_Mutation_p.G349D			Q9Y2I2	NTNG1_HUMAN	netrin G1	349	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATCCCCAAAGGCACTGCAAAT	0.448000													21	84					0	0	0.049695	0	0
RYR1	6261	broad.mit.edu	37	19	38983277	38983277	+	Splice_Site	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:38983277G>A	ENST00000355481.4	+	38	6405		c.e38+1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAAACCCCGTGAGGACTGG	0.627000													3	11					0	0	0.004672	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	45					0	0	0.021553	0	0
GRM4	2914	broad.mit.edu	37	6	34029800	34029800	+	Missense_Mutation	SNP	C	C	T	rs144674222		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:34029800C>T	ENST00000374181.3	-	3	911	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	GRM4_ENST00000538487.1_Missense_Mutation_p.V248M|GRM4_ENST00000374177.3_Missense_Mutation_p.V179M|GRM4_ENST00000545715.1_De_novo_Start_InFrame|GRM4_ENST00000455714.2_Missense_Mutation_p.V108M|GRM4_ENST00000535756.1_Missense_Mutation_p.V115M|GRM4_ENST00000544773.1_Missense_Mutation_p.V79M	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	248					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCGATGCACACGCCCCCTGCA	0.642000													6	51					0	0	0.038147	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278494	89278494	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:89278494G>T	ENST00000390247.2	-	0	106																											AGCTGAGCTGGGGCTTCCATG	0.577000													19	98					2.94398e-08	3.75358e-08	0.043863	1	0
PHACTR3	116154	broad.mit.edu	37	20	58349347	58349347	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:58349347C>T	ENST00000371015.1	+	7	1443	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	PHACTR3_ENST00000541461.1_Missense_Mutation_p.R285C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R215C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R285C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R285C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R323C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R215C	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	326						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCTGGATGTCCGTCTGTCGAG	0.532000													3	60					0	0	0.004672	0	0
KCNH8	131096	broad.mit.edu	37	3	19575248	19575248	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr3:19575248C>T	ENST00000328405.2	+	16	3247	c.2981C>T	c.(2980-2982)tCa>tTa	p.S994L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	994	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTGATTATTCACCTTCCCAC	0.478000													20	112					0	0	0.043863	0	0
REV1	51455	broad.mit.edu	37	2	100019435	100019435	+	Missense_Mutation	SNP	T	T	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:100019435T>G	ENST00000258428.3	-	20	3529	c.3301A>C	c.(3301-3303)Act>Cct	p.T1101P	REV1_ENST00000393445.3_Missense_Mutation_p.T1100P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1101					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGGCAGAGTTTTTGCAGGA	0.413000								Direct reversal of damage					8	66					0	0	0.038147	0	0
MYLK	4638	broad.mit.edu	37	3	123337498	123337498	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr3:123337498A>T	ENST00000360772.3	-	33	5713	c.5335T>A	c.(5335-5337)Tgc>Agc	p.C1779S	MYLK_ENST00000583087.1_Missense_Mutation_p.C70S|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.C630S|MYLK_ENST00000475616.1_Missense_Mutation_p.C1830S|MYLK_ENST00000360304.3_Missense_Mutation_p.C1830S|MYLK_ENST00000359169.1_Missense_Mutation_p.C1779S|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.C1761S|MYLK_ENST00000418370.2_Missense_Mutation_p.C70S|MYLK_ENST00000578202.1_Missense_Mutation_p.C69S|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1830					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAATCTTGCAGTCAAATCTA	0.473000													9	88					0	0	0.080935	0	0
FERMT3	83706	broad.mit.edu	37	11	63990560	63990560	+	Missense_Mutation	SNP	A	A	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:63990560A>C	ENST00000279227.5	+	14	1818	c.1723A>C	c.(1723-1725)Aac>Cac	p.N575H	FERMT3_ENST00000345728.5_Missense_Mutation_p.N571H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	575					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGGCATCGCCAACAACCGACT	0.627000													13	53					0	0	0.105934	0	0
TH	7054	broad.mit.edu	37	11	2189733	2189733	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:2189733C>A	ENST00000381178.1	-	4	586	c.568G>T	c.(568-570)Gcg>Tcg	p.A190S	TH_ENST00000333684.5_Missense_Mutation_p.A163S|TH_ENST00000352909.3_Missense_Mutation_p.A159S|TH_ENST00000381175.1_Missense_Mutation_p.A186S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	190					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TTGGGCCCCGCGGGGCTGCGC	0.687000													3	28					0.004672	0.00492977	0.004672	1	0
UBE4B	10277	broad.mit.edu	37	1	10197176	10197176	+	Missense_Mutation	SNP	T	T	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:10197176T>G	ENST00000377157.3	+	16	2602	c.1541T>G	c.(1540-1542)tTt>tGt	p.F514C	UBE4B_ENST00000253251.8_Missense_Mutation_p.F630C|UBE4B_ENST00000343090.6_Missense_Mutation_p.F759C	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	759					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGTGCTTCTTTCTCACCCTG	0.468000													9	94					0	0	0.047766	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877931	39877931	+	Nonsense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:39877931C>G	ENST00000530275.1	+	1	1781	c.1586C>G	c.(1585-1587)tCa>tGa	p.S529*	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	529										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGTTACCTCAGGACCTGAA	0.393000													7	143					0	0	0.047766	0	0
MTUS2	23281	broad.mit.edu	37	13	29600083	29600083	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:29600083A>T	ENST00000431530.3	+	1	1336	c.1278A>T	c.(1276-1278)ccA>ccT	p.P426P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	416						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAATTTCACCATGTGCAGGTG	0.512000													9	41					0	0	0.047766	0	0
NOL4	8715	broad.mit.edu	37	18	31803075	31803075	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr18:31803075G>T	ENST00000261592.5	-	1	440	c.143C>A	c.(142-144)aCg>aAg	p.T48K	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.T48K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	48						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCGTTGTCCGTGGAGCTCGA	0.597000													9	71					3.86212e-05	4.54542e-05	0.069234	1	0
ITGA10	8515	broad.mit.edu	37	1	145534172	145534172	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:145534172G>A	ENST00000369304.3	+	14	1852	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	ITGA10_ENST00000538811.1_Silent_p.L428L|ITGA10_ENST00000539363.1_Silent_p.L416L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	559					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGATCTGAACCAAGATG	0.582000													10	180					0	0	0.080935	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249937	140249937	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:140249937G>A	ENST00000398640.2	+	1	1249	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAGAACGTGTGGGCCTA	0.622000													12	176					0	0	0.093190	0	0
CLYBL	171425	broad.mit.edu	37	13	100511246	100511246	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:100511246G>T	ENST00000376355.3	+	3	412	c.381G>T	c.(379-381)cgG>cgT	p.R127R	CLYBL_ENST00000339105.4_Silent_p.R127R|CLYBL_ENST00000444838.2_Silent_p.R127R|CLYBL_ENST00000376354.1_Silent_p.R127R|CLYBL_ENST00000376360.1_Silent_p.R127R	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	127					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCAATCCCGGGTCCTTCCTT	0.488000													9	28					2.74318e-10	3.74738e-10	0.058154	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17699682	17699682	+	Translation_Start_Site	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:17699682T>A	ENST00000399080.2	-	1	24	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGGAGAGACATGACAGCGAAT	0.622000													14	95					0	0	0.028581	0	0
ABCA1	19	broad.mit.edu	37	9	107618283	107618283	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:107618283G>A	ENST00000423487.2	-	8	1103	c.807C>T	c.(805-807)ccC>ccT	p.P269P	ABCA1_ENST00000374736.3_Intron			O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	0					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATCATGTTGGGCTTTGCAT	0.423000													9	39					0	0	0.058154	0	0
FLG	2312	broad.mit.edu	37	1	152282874	152282874	+	Missense_Mutation	SNP	G	G	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:152282874G>C	ENST00000368799.1	-	3	4523	c.4488C>G	c.(4486-4488)agC>agG	p.S1496R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1496	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCTGCTTGACCCCG	0.577000									Ichthyosis				219	475					0	0	0.048971	0	0
NEURL1	9148	broad.mit.edu	37	10	105350046	105350046	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:105350046C>T	ENST00000369780.4	+	6	2051	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.R531C	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		548					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGTGGCCTGCGCCTCAAGAA	0.622000													7	40					0	0	0.029380	0	0
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:61513083C>T	ENST00000266070.4	-	16	4550	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E1409*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602000													13	108					0	0	0.020292	0	0
TGM3	7053	broad.mit.edu	37	20	2293605	2293605	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:2293605G>T	ENST00000381458.5	+	5	665	c.602G>T	c.(601-603)cGt>cTt	p.R201L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	201					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R201H(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AATTTCCGCCGTGACGCTGCT	0.463000													11	78					0.000978159	0.00108448	0.080935	1	0
PAPSS1	9061	broad.mit.edu	37	4	108578069	108578069	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr4:108578069A>T	ENST00000265174.4	-	7	1150	c.878T>A	c.(877-879)tTt>tAt	p.F293Y	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	293					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AAGACAATCAAAATGAAGGCA	0.393000													16	48					0	0	0.033300	0	0
DOCK8	81704	broad.mit.edu	37	9	371489	371489	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:371489C>T	ENST00000432829.2	+	17	2042	c.1726C>T	c.(1726-1728)Cac>Tac	p.H576Y	DOCK8_ENST00000453981.1_Missense_Mutation_p.H644Y|DOCK8_ENST00000469391.1_Missense_Mutation_p.H576Y|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000382329.1_Missense_Mutation_p.H111Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	644					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTAAATCACCACCTCCTGTT	0.438000													5	65					0	0	0.021553	0	0
TRPM8	79054	broad.mit.edu	37	2	234871956	234871956	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:234871956C>G	ENST00000324695.4	+	13	1724	c.1684C>G	c.(1684-1686)Caa>Gaa	p.Q562E	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q250E	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	562						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCACCCCCTGCAAGCTCTCTT	0.502000													3	43					0	0	0.009096	0	0
OR4A5	81318	broad.mit.edu	37	11	51412273	51412273	+	Silent	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:51412273C>A	ENST00000319760.6	-	1	175	c.123G>T	c.(121-123)ctG>ctT	p.L41L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCACAATGAGCAGGTTCCCCA	0.448000													12	32					2.27111e-07	2.8482e-07	0.093190	1	0
SRPX	8406	broad.mit.edu	37	X	38020261	38020261	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:38020261C>A	ENST00000378533.3	-	6	806	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	SRPX_ENST00000343800.6_Missense_Mutation_p.D221Y|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.D234Y|SRPX_ENST00000432886.2_Missense_Mutation_p.D175Y|SRPX_ENST00000544439.1_Missense_Mutation_p.D214Y	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	234	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ATCTTGTGGTCTCCTTCTGGA	0.418000													8	52					0.000157383	0.00018105	0.038147	1	0
TRIB1	10221	broad.mit.edu	37	8	126445584	126445584	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:126445584A>T	ENST00000311922.3	+	2	968	c.386A>T	c.(385-387)gAc>gTc	p.D129V	TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	129	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CACTACCAGGACAAAATCAGG	0.512000													30	245					0	0	0.059317	0	0
OR5T2	219464	broad.mit.edu	37	11	55999948	55999948	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:55999948G>T	ENST00000313264.4	-	1	789	c.714C>A	c.(712-714)ctC>ctA	p.L238L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	238			L -> V (in dbSNP:rs12221615).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAAGTAGAAGAGTAGAAGCT	0.428000													14	87					4.93089e-13	6.79663e-13	0.020292	1	0
HNF4A	3172	broad.mit.edu	37	20	43034755	43034755	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:43034755C>T	ENST00000316099.3	+	2	262	c.173C>T	c.(172-174)gCc>gTc	p.A58V	HNF4A_ENST00000443598.2_Missense_Mutation_p.A58V|HNF4A_ENST00000415691.1_Missense_Mutation_p.A58V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A36V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	58					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGTCAGCGCCCTGTGTGCC	0.632000													37	133					0	0	0.074837	0	0
POTEF	728378	broad.mit.edu	37	2	130832520	130832520	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:130832520A>T	ENST00000357462.5	-	15	2618	c.2525T>A	c.(2524-2526)cTg>cAg	p.L842Q	POTEF_ENST00000409914.2_Missense_Mutation_p.L842Q			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	842	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGAGGTGTACAGGGACAGCAC	0.587000													41	428					0	0	0.111260	0	0
OR56B1	387748	broad.mit.edu	37	11	5758467	5758467	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:5758467G>A	ENST00000317121.3	+	1	787	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GAACTCAGCTGAAGCTGCAGC	0.423000													21	83					0	0	0.049695	0	0
VPS33B	26276	broad.mit.edu	37	15	91548985	91548985	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr15:91548985C>T	ENST00000333371.3	-	13	1322	c.969G>A	c.(967-969)atG>atA	p.M323I	VPS33B_ENST00000535843.1_Missense_Mutation_p.M232I|VPS33B_ENST00000535906.1_Missense_Mutation_p.M296I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	323					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAAATTCTTCATCTGCTTAA	0.567000													9	85					0	0	0.058154	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638205	149638205	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:149638205G>T	ENST00000370401.2	+	4	670	c.360G>T	c.(358-360)gcG>gcT	p.A120A	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000432680.2_Silent_p.A95A|MAMLD1_ENST00000426613.2_Silent_p.A95A|MAMLD1_ENST00000262858.5_Silent_p.A120A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	120					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCGGCTATGGGAG	0.512000													14	104					2.62699e-14	3.6539e-14	0.024245	1	0
ACSM5	54988	broad.mit.edu	37	16	20430747	20430747	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr16:20430747G>A	ENST00000331849.4	+	4	760	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ACSM5_ENST00000575584.1_Missense_Mutation_p.E205K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	205					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAACTTCAGGGAACTCCTCCG	0.517000													12	37					0	0	0.105934	0	0
GDE1	51573	broad.mit.edu	37	16	19514835	19514835	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr16:19514835T>C	ENST00000353258.3	-	6	1133	c.953A>G	c.(952-954)tAt>tGt	p.Y318C		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	318	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GTCAGTGATATAGCTGGAACC	0.458000											OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	77					0	0	0.093190	0	0
STXBP5	134957	broad.mit.edu	37	6	147581750	147581750	+	Splice_Site	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:147581750G>T	ENST00000367481.3	+	5	539		c.e5-1		STXBP5_ENST00000321680.6_Splice_Site|STXBP5_ENST00000179882.6_Splice_Site|STXBP5_ENST00000546097.1_Splice_Site|STXBP5_ENST00000367480.3_Splice_Site	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTCTCTTGCAGGGTTACATTT	0.353000													7	32					0.00198382	0.00213749	0.029380	1	0
KRT6B	3854	broad.mit.edu	37	12	52845437	52845437	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:52845437C>A	ENST00000252252.3	-	1	473	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	142	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.Q142H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGGAGACTCTGGTTGACAG	0.622000													12	160					0.00136819	0.00148464	0.093190	1	0
SIPA1	6494	broad.mit.edu	37	11	65408900	65408900	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:65408900G>A	ENST00000394224.3	+	2	804	c.508G>A	c.(508-510)Ggg>Agg	p.G170R	SIPA1_ENST00000534313.1_Missense_Mutation_p.G170R|SIPA1_ENST00000527525.1_Missense_Mutation_p.G170R|SIPA1_ENST00000394227.3_Missense_Mutation_p.G170R	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	170					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTGTGAGCTCGGGGGTGAGGG	0.677000													6	77					0	0	0.029380	0	0
SALL4	57167	broad.mit.edu	37	20	50407055	50407055	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:50407055G>A	ENST00000217086.4	-	2	2078	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	656					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCAGGGGCGTGTTGGGAAT	0.547000													5	64					0	0	0.021553	0	0
DLX4	1748	broad.mit.edu	37	17	48051138	48051138	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr17:48051138G>A	ENST00000240306.3	+	3	849	c.554G>A	c.(553-555)gGg>gAg	p.G185E	DLX4_ENST00000411890.2_Missense_Mutation_p.G113E	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	185					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GGGCAGGAAGGGGACTTCCCT	0.557000													37	127					0	0	0.064281	0	0
IFT88	8100	broad.mit.edu	37	13	21205212	21205212	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:21205212G>T	ENST00000382778.4	+	17	2502	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	IFT88_ENST00000351808.5_Missense_Mutation_p.A453S|IFT88_ENST00000537103.1_Missense_Mutation_p.A434S|IFT88_ENST00000319980.6_Missense_Mutation_p.A462S|IFT88_ENST00000461115.1_3'UTR			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	462					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAGTGCAGCTGCAACCAATCT	0.343000													11	69					2.80697e-09	3.7023e-09	0.080935	1	0
FAM9A	171482	broad.mit.edu	37	X	8759376	8759376	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:8759376A>T	ENST00000543214.1	-	9	1110	c.975T>A	c.(973-975)agT>agA	p.S325R	FAM9A_ENST00000381003.3_Missense_Mutation_p.S325R	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	325						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CACTTTCTTCACTGGAAGAAA	0.343000													4	24					0	0	0.009096	0	0
OR2F1	26211	broad.mit.edu	37	7	143657663	143657663	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:143657663G>T	ENST00000392899.1	+	1	637	c.600G>T	c.(598-600)atG>atT	p.M200I		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCACCATCATGGTGTCTAGCA	0.473000													19	74					8.34094e-07	1.02093e-06	0.049695	1	0
ZNF813	126017	broad.mit.edu	37	19	53989968	53989968	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:53989968A>G	ENST00000396403.4	+	3	226	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	ZNF813_ENST00000396421.4_Missense_Mutation_p.Y33C	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGGACTCTATACAGGGACGTG	0.473000													22	131					0	0	0.091800	0	0
CYTH4	27128	broad.mit.edu	37	22	37707058	37707058	+	Missense_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr22:37707058T>A	ENST00000248901.6	+	10	1025	c.838T>A	c.(838-840)Tgg>Agg	p.W280R		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	280	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAAACGGCGCTGGTTCATCCT	0.637000													12	129					0	0	0.105934	0	0
DEFA4	1669	broad.mit.edu	37	8	6793542	6793542	+	Nonstop_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:6793542T>A	ENST00000297435.2	-	3	418	c.294A>T	c.(292-294)taA>taT	p.*98Y		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	0					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CAGCAGAACGTTAATCGACAC	0.488000													15	93					0	0	0.024245	0	0
M1AP	130951	broad.mit.edu	37	2	74834325	74834325	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:74834325C>T	ENST00000290536.5	-	4	568	c.452G>A	c.(451-453)gGa>gAa	p.G151E	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.G151E|M1AP_ENST00000536235.1_Missense_Mutation_p.G151E	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CACCTCTTTTCCAGGCTGAGA	0.443000													6	70					0	0	0.021553	0	0
NFASC	23114	broad.mit.edu	37	1	204953227	204953227	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:204953227G>T	ENST00000367172.4	+	22	2871	c.2543G>T	c.(2542-2544)cGc>cTc	p.R848L	NFASC_ENST00000513543.1_Missense_Mutation_p.R844L|NFASC_ENST00000539706.1_Missense_Mutation_p.R844L|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.R848L|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.R844L|NFASC_ENST00000404076.1_Missense_Mutation_p.R827L|NFASC_ENST00000404907.1_Missense_Mutation_p.R844L|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.R833L|NFASC_ENST00000367170.4_Missense_Mutation_p.R848L|NFASC_ENST00000338586.6_Missense_Mutation_p.R848L			O94856	NFASC_HUMAN	neurofascin	848	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGTGGAACCGCGTCTACTCC	0.587000													4	63					0.00116845	0.00127694	0.021553	1	0
SLC30A1	7779	broad.mit.edu	37	1	211749082	211749082	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:211749082T>C	ENST00000367001.4	-	2	1301	c.1172A>G	c.(1171-1173)gAa>gGa	p.E391G		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	391					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TGTTGGATCTTCACATTTTAT	0.388000													3	65					0	0	0.004672	0	0
WRN	7486	broad.mit.edu	37	8	30938527	30938527	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:30938527A>T	ENST00000298139.5	+	9	1233	c.984A>T	c.(982-984)gtA>gtT	p.V328V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	328					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGGGGGAGTACAACAGAAAC	0.368000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	37					0	0	0.029380	0	0
UNC5A	90249	broad.mit.edu	37	5	176301080	176301080	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:176301080G>T	ENST00000329542.4	+	7	1272	c.998G>T	c.(997-999)gGg>gTg	p.G333V	UNC5A_ENST00000261961.3_Missense_Mutation_p.G293V	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	333					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGGAGGGGCTGGACTCA	0.632000													8	39					5.4927e-09	7.18277e-09	0.047766	1	0
OR1K1	392392	broad.mit.edu	37	9	125562995	125562995	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:125562995G>A	ENST00000277309.2	+	1	626	c.594G>A	c.(592-594)ctG>ctA	p.L198L		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACATCCAGCTGCTCATCTTCA	0.617000													13	78					0	0	0.105934	0	0
DGKK	139189	broad.mit.edu	37	X	50213491	50213491	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:50213491G>T	ENST00000376025.2	-	0	246							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGGGACCTGGAGCAAGCTCT	0.672000													12	133					0.000978159	0.00108448	0.080935	1	0
ASMT	438	broad.mit.edu	37	X	1746614	1746614	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:1746614C>T	ENST00000381241.3	+	4	592	c.393C>T	c.(391-393)taC>taT	p.Y131Y	ASMT_ENST00000381229.4_Silent_p.Y131Y|ASMT_ENST00000381233.3_Silent_p.Y131Y	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	131					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAACCAGTACCTGGAGACGT	0.378000													15	157					0	0	0.020292	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416145	96416145	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:96416145A>G	ENST00000602402.1	+	9	1130	c.1013A>G	c.(1012-1014)gAc>gGc	p.D338G	DNAJC3_ENST00000376795.6_Missense_Mutation_p.D287G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	338					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATGGAACCTGACAATGTGAAT	0.393000													10	74					0	0	0.058154	0	0
PAK7	57144	broad.mit.edu	37	20	9546635	9546635	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:9546635C>T	ENST00000378429.3	-	6	1933	c.1387G>A	c.(1387-1389)Gta>Ata	p.V463I	PAK7_ENST00000378423.1_Missense_Mutation_p.V463I|PAK7_ENST00000353224.5_Missense_Mutation_p.V463I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	463	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.V463L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCGATGCATACGATGCCGGTT	0.522000													6	143					0	0	0.029380	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256140	15256140	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:15256140C>G	ENST00000378116.4	-	8	1453	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	483						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTGTAGTCATCATTGCCCGAG	0.483000													15	83					0	0	0.020292	0	0
QPCT	25797	broad.mit.edu	37	2	37594376	37594376	+	Splice_Site	SNP	C	C	G	rs151306583		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:37594376C>G	ENST00000338415.3	+	4	706	c.546_splice	c.e4-1	p.T183_splice	QPCT_ENST00000537448.1_Splice_Site_p.T134_splice	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	183					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTTACCAGACTGTTTCAGAC	0.363000													11	76					0	0	0.105934	0	0
ITGA5	3678	broad.mit.edu	37	12	54801969	54801969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:54801969C>A	ENST00000293379.4	-	7	1003	c.742G>T	c.(742-744)Gag>Tag	p.E248*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	248					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ATCAGGTACTCGGGGTAATAA	0.547000													13	45					1.49906e-05	1.80595e-05	0.020292	1	0
EYS	346007	broad.mit.edu	37	6	66204723	66204723	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:66204723C>A	ENST00000503581.1	-	4	1118	c.581G>T	c.(580-582)tGg>tTg	p.W194L	EYS_ENST00000370616.2_Missense_Mutation_p.W194L|EYS_ENST00000370618.3_Missense_Mutation_p.W194L|EYS_ENST00000370621.3_Missense_Mutation_p.W194L|EYS_ENST00000342421.5_Missense_Mutation_p.W194L|EYS_ENST00000393380.2_Missense_Mutation_p.W194L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	194	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTCTTGCTCCAAGCTTCACT	0.418000													5	20					3.59834e-05	4.26779e-05	0.021553	1	0
CPB2	1361	broad.mit.edu	37	13	46632454	46632454	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:46632454G>T	ENST00000181383.4	-	9	875	c.859C>A	c.(859-861)Cca>Aca	p.P287T	CPB2_ENST00000439329.3_Missense_Mutation_p.P250T|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	287					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TTCACTTCTGGTTCTGACTCA	0.418000													6	87					0.00116845	0.00127694	0.021553	1	0
PSG11	5680	broad.mit.edu	37	19	43523108	43523108	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:43523108C>G	ENST00000401740.1	-	3	626	c.523G>C	c.(523-525)Gac>Cac	p.D175H	PSG11_ENST00000403486.1_Missense_Mutation_p.D53H|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.D53H|PSG11_ENST00000320078.7_Missense_Mutation_p.D175H			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	175	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TAGCTTGCGTCCGGAGTCTCA	0.527000													26	336					0	0	0.083992	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964049	33964049	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:33964049C>A	ENST00000382102.3	-	3	692	c.635G>T	c.(634-636)gGt>gTt	p.G212V	SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G153V|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G212V	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	212					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GAATTCTGTACCCAACAGTCT	0.473000													14	47					3.27435e-08	4.1403e-08	0.020292	1	0
ADNP2	22850	broad.mit.edu	37	18	77895840	77895840	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr18:77895840C>G	ENST00000262198.4	+	4	2999	c.2544C>G	c.(2542-2544)caC>caG	p.H848Q		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	848					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGGGATACACTCCAAGTCAC	0.567000													13	83					0	0	0.024245	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944882	43944882	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:43944882C>T	ENST00000389420.3	-	2	282	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A95T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	95						proteinaceous extracellular matrix	zinc ion binding	p.A95T(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATGCATCGGCGGTCAGGTTC	0.677000													7	74					0	0	0.029380	0	0
GABRQ	55879	broad.mit.edu	37	X	151815621	151815621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:151815621C>A	ENST00000370306.2	+	4	539	c.519C>A	c.(517-519)taC>taA	p.Y173*		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	173						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.Y173Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CGGTGCGGTACGGCATCCGGT	0.517000													5	49					5.9392e-07	7.32821e-07	0.021553	1	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													4	40					0	0	0.009096	0	0
YARS2	51067	broad.mit.edu	37	12	32908428	32908428	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:32908428C>G	ENST00000324868.8	-	1	408	c.381G>C	c.(379-381)aaG>aaC	p.K127N		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	127					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CCTCGCGTTCCTTGGTACGGC	0.682000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	0.014758	0	0
USH2A	7399	broad.mit.edu	37	1	216251437	216251437	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:216251437C>G	ENST00000366943.2	-	27	5952	c.5566G>C	c.(5566-5568)Gaa>Caa	p.E1856Q	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1856Q|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1856	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTACCTTGTTCCAAACACAAA	0.458000										HNSCC(13;0.011)			6	88					0	0	0.029380	0	0
UNC5A	90249	broad.mit.edu	37	5	176304986	176304986	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:176304986G>A	ENST00000329542.4	+	11	2001	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	UNC5A_ENST00000261961.3_Missense_Mutation_p.G536D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	576					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCTGGGCCGCTTTGCC	0.667000													15	36					0	0	0.020292	0	0
PDE1C	5137	broad.mit.edu	37	7	31862712	31862712	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:31862712C>T	ENST00000396184.3	-	15	1761	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	PDE1C_ENST00000396182.2_Silent_p.E519E|PDE1C_ENST00000321453.7_Silent_p.E519E|PDE1C_ENST00000396191.1_Silent_p.E519E|PDE1C_ENST00000396193.1_Silent_p.E579E	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	519	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCCTCCATCTCTCCCGATTGA	0.468000													12	136					0	0	0.024245	0	0
LIMS1	3987	broad.mit.edu	37	2	109292448	109292448	+	Silent	SNP	C	C	T	rs111779374		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr2:109292448C>T	ENST00000393310.1	+	6	776	c.609C>T	c.(607-609)cgC>cgT	p.R203R	LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000544547.1_Silent_p.R215R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000338045.3_Silent_p.R203R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537000													8	35					0	0	0.038147	0	0
AGBL2	79841	broad.mit.edu	37	11	47712126	47712126	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:47712126G>A	ENST00000525123.1	-	10	1418	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M	AGBL2_ENST00000357610.3_Missense_Mutation_p.T378M|AGBL2_ENST00000298861.4_Missense_Mutation_p.T378M|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.T340M	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AATGGTCCACGTGAGACAGTA	0.468000													22	98					0	0	0.083992	0	0
TJP3	27134	broad.mit.edu	37	19	3736270	3736270	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:3736270G>A	ENST00000541714.2	+	11	1697	c.1235G>A	c.(1234-1236)gGc>gAc	p.G412D	TJP3_ENST00000539908.2_Missense_Mutation_p.G376D|TJP3_ENST00000262968.9_Missense_Mutation_p.G445D|TJP3_ENST00000382008.3_Missense_Mutation_p.G426D|TJP3_ENST00000589378.1_Missense_Mutation_p.G421D|TJP3_ENST00000587686.1_Missense_Mutation_p.G431D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	426	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCAGGCGGGCAGCCCGGCC	0.697000													3	30					0	0	0.009096	0	0
USP35	57558	broad.mit.edu	37	11	77918630	77918630	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:77918630C>T	ENST00000529308.1	+	8	1707	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	USP35_ENST00000530267.1_Silent_p.T50T|USP35_ENST00000526425.1_Silent_p.T213T|USP35_ENST00000441408.2_Silent_p.T68T|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	482					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCCTGATGACCAAGCTGCAGT	0.582000													17	104					0	0	0.038395	0	0
NELL1	4745	broad.mit.edu	37	11	21592368	21592368	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:21592368T>C	ENST00000298925.5	+	19	2276	c.2123T>C	c.(2122-2124)cTa>cCa	p.L708P	NELL1_ENST00000325319.5_Missense_Mutation_p.L623P|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.L633P|NELL1_ENST00000357134.5_Missense_Mutation_p.L680P			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	680	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGCTGACCTATTCTGTTGC	0.438000													16	82					0	0	0.028581	0	0
BTC	685	broad.mit.edu	37	4	75673268	75673268	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr4:75673268C>G	ENST00000395743.3	-	5	880	c.520G>C	c.(520-522)Gag>Cag	p.E174Q		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	174					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			ATATTTGTCTCTTCAATATCT	0.338000													3	52					0	0	0.004672	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177188	89177188	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:89177188G>T	ENST00000561129.2	+	1	234	c.104G>T	c.(103-105)aGa>aTa	p.R35I	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R35I			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATCATGTCGAGAAATAACGCA	0.582000													10	42					2.80697e-09	3.7023e-09	0.080935	1	0
ATP2A2	488	broad.mit.edu	37	12	110783811	110783811	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:110783811C>T	ENST00000395494.2	+	18	3229	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCAGCTTGTCCGAAAACCAG	0.572000													13	73					0	0	0.093190	0	0
RMND5B	64777	broad.mit.edu	37	5	177571094	177571094	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr5:177571094C>G	ENST00000515098.1	+	8	1030	c.679C>G	c.(679-681)Cgg>Ggg	p.R227G	RMND5B_ENST00000313386.4_Missense_Mutation_p.R227G|RMND5B_ENST00000542098.1_Missense_Mutation_p.R214G			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	227								p.R227W(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTTTGCTCGGCTGCACCA	0.637000													5	67					0	0	0.014758	0	0
CLEC11A	6320	broad.mit.edu	37	19	51228604	51228604	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:51228604C>T	ENST00000599973.1	+	4	904	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	CLEC11A_ENST00000250340.4_Silent_p.S284S			Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	164	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATCCGCTCAGCCCGGACCAGC	0.701000													6	15					0	0	0.029380	0	0
CAMK2B	816	broad.mit.edu	37	7	44298523	44298523	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:44298523G>A	ENST00000395749.2	-	4	299	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	CAMK2B_ENST00000358707.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R75C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R75C|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000457475.1_Missense_Mutation_p.R75C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R75C|CAMK2B_ENST00000347193.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000502837.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	75	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TCGTGGAGACGCACTGTGGGG	0.612000													8	13					0	0	0.047766	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290803	141290803	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:141290803G>T	ENST00000247452.3	-	3	1318	c.971C>A	c.(970-972)aCt>aAt	p.T324N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	324	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAGGAACAGTGTTGTTCAG	0.453000										HNSCC(46;0.14)			27	103					2.79863e-10	3.7893e-10	0.099896	1	0
CCSER1	401145	broad.mit.edu	37	4	91230499	91230499	+	Missense_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr4:91230499T>A	ENST00000509176.1	+	2	1352	c.1064T>A	c.(1063-1065)cTa>cAa	p.L355Q	CCSER1_ENST00000432775.2_Missense_Mutation_p.L355Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.L355Q	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATTGCTGAACTACCTGCTACA	0.408000													15	53					0	0	0.033300	0	0
MYH3	4621	broad.mit.edu	37	17	10537453	10537453	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr17:10537453A>G	ENST00000583535.1	-	32	4490	c.4403T>C	c.(4402-4404)cTg>cCg	p.L1468P	MYH3_ENST00000226209.7_Missense_Mutation_p.L1468P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1468					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGATGCCTCCAGCTCTGCTTG	0.507000													5	103					0	0	0.021553	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672764	141672764	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:141672764G>T	ENST00000547270.1	-	1	809	c.726C>A	c.(724-726)caC>caA	p.H242Q		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	242					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GGGCTTTAATGTGGGCCTCCA	0.507000													16	50					2.31682e-05	2.76933e-05	0.024245	1	0
ZNF511	118472	broad.mit.edu	37	10	135125252	135125252	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:135125252G>T	ENST00000359035.3	+	5	590	c.587G>T	c.(586-588)gGa>gTa	p.G196V	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.G196V|ZNF511_ENST00000368554.4_Missense_Mutation_p.G131V			Q8NB15	ZN511_HUMAN	zinc finger protein 511	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGGGACAGTGGAGAGCGGTCA	0.627000													10	62					0.000673444	0.000763237	0.069234	1	0
CNST	163882	broad.mit.edu	37	1	246810486	246810486	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:246810486A>G	ENST00000366513.4	+	9	1252	c.983A>G	c.(982-984)cAt>cGt	p.H328R	CNST_ENST00000366512.3_Missense_Mutation_p.H328R|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	328					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GAAAGCCAACATACAGTGGAG	0.433000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	90					0	0	0.069288	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	62					0	0	0.009096	0	0
DACH2	117154	broad.mit.edu	37	X	85769325	85769325	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:85769325C>A	ENST00000373131.1	+	2	695	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	DACH2_ENST00000508860.1_Missense_Mutation_p.Q24K|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.Q191K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGGAGTGTTGCAGGAAAATGC	0.448000													6	22					0.0293803	0.0303729	0.029380	1	0
ZNF845	91664	broad.mit.edu	37	19	53854728	53854728	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr19:53854728G>T	ENST00000458035.1	+	4	917	c.800G>T	c.(799-801)gGc>gTc	p.G267V	ZNF845_ENST00000595091.1_Missense_Mutation_p.G267V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGTCACACTGGCAAGAAACCT	0.393000													7	61					2.7689e-08	3.56001e-08	0.029380	1	0
HOXB1	3211	broad.mit.edu	37	17	46607756	46607756	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr17:46607756C>G	ENST00000239174.6	-	1	603	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	HOXB1_ENST00000577092.1_Missense_Mutation_p.E171Q	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	171						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTTAGGTTCTGAAGGGCAG	0.602000													7	40					0	0	0.029380	0	0
GFRAL	389400	broad.mit.edu	37	6	55196548	55196548	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr6:55196548C>A	ENST00000340465.2	+	2	144	c.58C>A	c.(58-60)Caa>Aaa	p.Q20K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	20						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATACACTTCCCAAACCAATAA	0.348000													3	31					6.4e-05	7.47481e-05	0.004672	1	0
CCNY	219771	broad.mit.edu	37	10	35842027	35842027	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:35842027C>T	ENST00000374704.4	+	8	840	c.660C>T	c.(658-660)atC>atT	p.I220I	CCNY_ENST00000265375.9_Silent_p.I166I|CCNY_ENST00000374706.1_Silent_p.I166I|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Silent_p.I195I	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	220	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TAGGGGCGATCCTGCTGGCCT	0.512000													8	83					0	0	0.038147	0	0
MUC4	4585	broad.mit.edu	37	3	195515885	195515885	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr3:195515885C>T	ENST00000463781.3	-	2	3025	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A856T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	861	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGGGATGGCACCATGACTG	0.577000													6	45					0	0	0.029380	0	0
PREX2	80243	broad.mit.edu	37	8	69021837	69021837	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:69021837T>C	ENST00000288368.4	+	25	3402	c.3125T>C	c.(3124-3126)aTg>aCg	p.M1042T		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1042					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGGTGGAGATGTGTGTTTGT	0.363000													12	37					0	0	0.093190	0	0
PIGB	9488	broad.mit.edu	37	15	55613537	55613537	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr15:55613537A>T	ENST00000164305.5	+	3	657	c.366A>T	c.(364-366)gcA>gcT	p.A122A	PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	122					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TAATCTTTGCAAGCATTTACA	0.328000													5	10					0	0	0.038147	0	0
MET	4233	broad.mit.edu	37	7	116412044	116412044	+	Splice_Site	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:116412044G>A	ENST00000397752.3	+	14	3228		c.e14+1		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(4)|p.?(3)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCCAGAAGGTATATTTCAG	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				8	22					0	0	0.047766	0	0
DGKK	139189	broad.mit.edu	37	X	50213490	50213490	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:50213490G>T	ENST00000376025.2	-	0	247							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACAGGGACCTGGAGCAAGCTC	0.672000													12	137					0.000978159	0.00108448	0.080935	1	0
ERCC6L	54821	broad.mit.edu	37	X	71424945	71424945	+	Silent	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:71424945A>G	ENST00000373657.1	-	3	3905	c.3303T>C	c.(3301-3303)gtT>gtC	p.V1101V	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.V1224V			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1224					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAGCGCTTTAACTAAGCAGT	0.373000													4	45					0	0	0.009096	0	0
TRPC5	7224	broad.mit.edu	37	X	111195485	111195485	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:111195485G>T	ENST00000262839.2	-	2	1082	c.164C>A	c.(163-165)gCt>gAt	p.A55D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	55					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTAGATCTCAGCCTCCTGAAG	0.532000													7	91					8.12818e-05	9.4213e-05	0.029380	1	0
CCDC147	159686	broad.mit.edu	37	10	106121912	106121912	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr10:106121912A>T	ENST00000369704.3	+	3	557	c.423A>T	c.(421-423)tcA>tcT	p.S141S	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	141										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTGGACTGTCAATGGACCAGC	0.488000													3	8					0	0	0.004672	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494412	20494412	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr16:20494412G>T	ENST00000573854.1	+	13	1656	c.1542G>T	c.(1540-1542)caG>caT	p.Q514H	ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q514H|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Q286H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Q435H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q514H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q514H	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	514					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGCCTCGCAGTTCCTGTCCC	0.498000													5	159					1.23904e-05	1.50455e-05	0.014758	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900386	151900386	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:151900386C>T	ENST00000393900.3	-	3	768	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.V139I|MAGEA12_ENST00000393869.3_Missense_Mutation_p.V139I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	139	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTGATGACACTCCCCAGC	0.502000													16	181					0	0	0.033300	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303721	151303721	+	Silent	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:151303721T>C	ENST00000370323.4	-	4	688	c.372A>G	c.(370-372)ccA>ccG	p.P124P	MAGEA10_ENST00000244096.3_Silent_p.P124P|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	124										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTGTCTGGCAGGACCT	0.502000													18	149					0	0	0.038395	0	0
FAT3	120114	broad.mit.edu	37	11	92615964	92615964	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:92615964G>A	ENST00000298047.6	+	23	12359	c.12342G>A	c.(12340-12342)gtG>gtA	p.V4114V	FAT3_ENST00000409404.2_Silent_p.V4114V|FAT3_ENST00000533797.1_Silent_p.V449V|FAT3_ENST00000525166.1_Silent_p.V3964V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4114	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTCCTGCGTGAACGTGTTCG	0.637000										TCGA Ovarian(4;0.039)			5	12					0	0	0.021553	0	0
ALX4	60529	broad.mit.edu	37	11	44289169	44289169	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:44289169A>G	ENST00000329255.3	-	3	884	c.781T>C	c.(781-783)Tgg>Cgg	p.W261R		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	261					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCTGGAACCAGACCTACAAG	0.577000													20	69					0	0	0.055883	0	0
COL15A1	1306	broad.mit.edu	37	9	101787221	101787221	+	Silent	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr9:101787221T>A	ENST00000375001.3	+	15	2343	c.1920T>A	c.(1918-1920)gtT>gtA	p.V640V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	640	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAACTGATGTTTTCATGGGAC	0.567000													11	45					0	0	0.069234	0	0
RAG1	5896	broad.mit.edu	37	11	36596428	36596428	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr11:36596428C>A	ENST00000299440.5	+	2	1686	c.1574C>A	c.(1573-1575)cCt>cAt	p.P525H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	525			P -> S (in dbSNP:rs4151032).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGGCAGCCACCTCTGAAGAAT	0.493000									Familial Hemophagocytic Lymphohistiocytosis				20	77					2.4624e-09	3.3048e-09	0.049695	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814552	106814552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr8:106814552G>T	ENST00000407775.2	+	8	2492	c.2242G>T	c.(2242-2244)Gag>Tag	p.E748*	ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E479*|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	748					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGCCTACCTGAGCAGGAACA	0.522000													4	23					0.00024832	0.00028353	0.009096	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68264919	68264919	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr14:68264919G>A	ENST00000347230.4	-	11	2198	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A687V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	687					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTGAGGAAGGCCCCTATTGC	0.483000													9	55					0	0	0.047766	0	0
CCDC88A	55704	broad.mit.edu	37	2	55646180	55646180	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:55646180C>G	ENST00000436346.1	-	1	877	c.36G>C	c.(34-36)caG>caC	p.Q12H	CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q12H|CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q12H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q12H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	12					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGTCATGAACTGCTCCAGAA	0.423000													11	36					0	0	0.105934	0	0
FCGBP	8857	broad.mit.edu	37	19	40421091	40421091	+	Splice_Site	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:40421091C>A	ENST00000221347.6	-	5	2837		c.e5+1			NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein							extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTCGCTCACCAGCACTTGC	0.682000													6	40					0.0293803	0.0301638	0.029380	1	0
UGT1A1	54658	broad.mit.edu	37	2	234669637	234669637	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:234669637C>T	ENST00000360418.3	+	1	704	c.704C>T	c.(703-705)tCa>tTa	p.S235L	UGT1A1_ENST00000305208.5_Missense_Mutation_p.S235L|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron			P22309	UD11_HUMAN		235					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCCTTGCCTCAGAATTCCTT	0.493000													9	157					0	0	0.047766	0	0
PARVG	64098	broad.mit.edu	37	22	44585089	44585089	+	Silent	SNP	C	C	A	rs149519388		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr22:44585089C>A	ENST00000422871.1	+	6	767	c.343C>A	c.(343-345)Cgg>Agg	p.R115R	PARVG_ENST00000444313.2_Silent_p.R115R|PARVG_ENST00000415224.1_Silent_p.R115R	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	115	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGCCGTGAACCGGAGTCTGCA	0.647000													11	43					3.86212e-05	4.43856e-05	0.069234	1	0
MIR30D	407033	broad.mit.edu	37	8	135817175	135817175	+	RNA	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr8:135817175A>G	ENST00000362283.1	-	0	13					NR_029599.1																						CCAGTCGGGGATGTTTACAAC	0.388000													3	56					0	0	0.004672	0	0
COL11A1	1301	broad.mit.edu	37	1	103355112	103355112	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:103355112G>A	ENST00000358392.2	-	59	4716	c.4399C>T	c.(4399-4401)Cct>Tct	p.P1467S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1455S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1416S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1339S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1455	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTAAACCAGGATGTCCCTTT	0.388000													3	45					0	0	0.004672	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180780	142180780	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:142180780G>T	ENST00000390368.2	-	0	144																											TGGAATTTTGGGGTCTGAGTG	0.517000													49	173					1.00776e-21	1.43699e-21	0.048971	1	0
ZNF831	128611	broad.mit.edu	37	20	57766574	57766574	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:57766574C>T	ENST00000371030.2	+	1	500	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	167						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGTCCCACACGGGTGAGAGG	0.612000													8	158					0	0	0.038147	0	0
SAMD4B	55095	broad.mit.edu	37	19	39871697	39871697	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:39871697G>A	ENST00000314471.6	+	14	2951	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R639H|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	639							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTGCAGCGCACCCACTCG	0.607000													5	72					0	0	0.014758	0	0
ITPR2	3709	broad.mit.edu	37	12	26810659	26810659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr12:26810659C>A	ENST00000381340.3	-	18	2589	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	725					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTAAGAACTTCTAAGTCAGCT	0.398000													13	75					1.5842e-08	2.03306e-08	0.105934	1	0
C8orf34	116328	broad.mit.edu	37	8	69351791	69351791	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr8:69351791G>A	ENST00000337103.4	+	1	1644	c.52G>A	c.(52-54)Gac>Aac	p.D18N	C8orf34_ENST00000518698.1_Missense_Mutation_p.D129N|C8orf34_ENST00000523686.1_Missense_Mutation_p.D43N|C8orf34_ENST00000539993.1_Missense_Mutation_p.D43N|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.D43N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	43					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATTTCTCATTGACCATCTTCA	0.388000													4	29					0	0	0.014758	0	0
BMPER	168667	broad.mit.edu	37	7	34125511	34125511	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:34125511G>T	ENST00000297161.2	+	14	1926	c.1552G>T	c.(1552-1554)Gat>Tat	p.D518Y	BMPER_ENST00000426693.1_Missense_Mutation_p.D518Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	518	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.D518H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTTCAAGTTTGATGTGGATGA	0.483000													17	72					3.32936e-07	4.10177e-07	0.038395	1	0
NYAP2	57624	broad.mit.edu	37	2	226446708	226446708	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:226446708C>A	ENST00000272907.6	+	4	988	c.575C>A	c.(574-576)cCt>cAt	p.P192H	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	192																	AAGATTCCTCCTCCCAAACCG	0.473000													32	161					3.99451e-17	5.59231e-17	0.041601	1	0
TMEM179B	374395	broad.mit.edu	37	11	62554927	62554927	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:62554927C>T	ENST00000333449.4	+	1	29	c.24C>T	c.(22-24)cgC>cgT	p.R8R	TMEM179B_ENST00000533861.1_Silent_p.R8R|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	8						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GGCTGCAGCGCGTCGAGCTTG	0.726000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	18					0	0	0.004672	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715378	222715378	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:222715378C>A	ENST00000343410.6	-	3	1152	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	365					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAAACAGGCCAAAGGGATC	0.537000													20	51					4.54149e-19	6.41641e-19	0.069288	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	27					0	0	0.080935	0	0
SPATA7	55812	broad.mit.edu	37	14	88857734	88857734	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr14:88857734C>T	ENST00000556553.1	+	3	588	c.29C>T	c.(28-30)aCc>aTc	p.T10I	SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000393545.4_Missense_Mutation_p.T10I|SPATA7_ENST00000356583.5_Missense_Mutation_p.T10I|SPATA7_ENST00000045347.7_Missense_Mutation_p.T10I			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	10					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTCAGAGCAACCTCTGTCCTT	0.318000													3	14					0	0	0.004672	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64960080	64960080	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr5:64960080C>A	ENST00000399438.3	+	12	1360	c.1015C>A	c.(1015-1017)Ctg>Atg	p.L339M	TRAPPC13_ENST00000231526.4_Missense_Mutation_p.L333M|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.L341M|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.L340M|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.L334M	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		GACTATGGATCTGGTTTTGGA	0.413000													24	115					8.24728e-16	1.14422e-15	0.099896	1	0
NTNG1	22854	broad.mit.edu	37	1	107937934	107937934	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:107937934G>A	ENST00000370067.1	+	4	1673	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	NTNG1_ENST00000370065.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370066.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370070.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370072.3_Missense_Mutation_p.G349D|NTNG1_ENST00000370073.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370074.4_Missense_Mutation_p.G349D|NTNG1_ENST00000370071.2_Missense_Mutation_p.G349D|NTNG1_ENST00000370068.1_Missense_Mutation_p.G349D|NTNG1_ENST00000542803.1_Missense_Mutation_p.G349D|NTNG1_ENST00000370061.3_Missense_Mutation_p.G349D			Q9Y2I2	NTNG1_HUMAN	netrin G1	349	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATCCCCAAAGGCACTGCAAAT	0.448000													21	84					0	0	0.049695	0	0
RYR1	6261	broad.mit.edu	37	19	38983277	38983277	+	Splice_Site	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:38983277G>A	ENST00000355481.4	+	38	6405		c.e38+1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCAAACCCCGTGAGGACTGG	0.627000													3	11					0	0	0.004672	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	45					0	0	0.021553	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364702	142364702	+	RNA	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:142364702A>G	ENST00000390397.2	+	0	373																											CTGTGCCACCAGTGATTTGCA	0.517000													12	60					0	0	0.093190	0	0
GRM4	2914	broad.mit.edu	37	6	34029800	34029800	+	Missense_Mutation	SNP	C	C	T	rs144674222		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr6:34029800C>T	ENST00000374181.3	-	3	911	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	GRM4_ENST00000374177.3_Missense_Mutation_p.V179M|GRM4_ENST00000544773.1_Missense_Mutation_p.V79M|GRM4_ENST00000455714.2_Missense_Mutation_p.V108M|GRM4_ENST00000535756.1_Missense_Mutation_p.V115M|GRM4_ENST00000538487.1_Missense_Mutation_p.V248M|GRM4_ENST00000545715.1_De_novo_Start_InFrame	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	248					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCGATGCACACGCCCCCTGCA	0.642000													6	51					0	0	0.038147	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278494	89278494	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:89278494G>T	ENST00000390247.2	-	0	106																											AGCTGAGCTGGGGCTTCCATG	0.577000													19	98					2.94398e-08	3.71617e-08	0.043863	1	0
ACSM2A	123876	broad.mit.edu	37	16	20494412	20494412	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr16:20494412G>T	ENST00000573854.1	+	13	1656	c.1542G>T	c.(1540-1542)caG>caT	p.Q514H	ACSM2A_ENST00000219054.6_Missense_Mutation_p.Q514H|ACSM2A_ENST00000536134.1_Missense_Mutation_p.Q286H|ACSM2A_ENST00000575690.1_Missense_Mutation_p.Q514H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.Q435H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.Q514H	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	514					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGCCTCGCAGTTCCTGTCCC	0.498000													5	159					1.23904e-05	1.47916e-05	0.014758	1	0
PHACTR3	116154	broad.mit.edu	37	20	58349347	58349347	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:58349347C>T	ENST00000371015.1	+	7	1443	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R323C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R285C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R285C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R285C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R215C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R215C	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	326						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCTGGATGTCCGTCTGTCGAG	0.532000													3	60					0	0	0.004672	0	0
KCNH8	131096	broad.mit.edu	37	3	19575248	19575248	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr3:19575248C>T	ENST00000328405.2	+	16	3247	c.2981C>T	c.(2980-2982)tCa>tTa	p.S994L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	994	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTGATTATTCACCTTCCCAC	0.478000													20	112					0	0	0.043863	0	0
REV1	51455	broad.mit.edu	37	2	100019435	100019435	+	Missense_Mutation	SNP	T	T	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:100019435T>G	ENST00000258428.3	-	20	3529	c.3301A>C	c.(3301-3303)Act>Cct	p.T1101P	REV1_ENST00000393445.3_Missense_Mutation_p.T1100P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1101					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTGGCAGAGTTTTTGCAGGA	0.413000								Direct reversal of damage					8	66					0	0	0.038147	0	0
MYLK	4638	broad.mit.edu	37	3	123337498	123337498	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr3:123337498A>T	ENST00000360772.3	-	33	5713	c.5335T>A	c.(5335-5337)Tgc>Agc	p.C1779S	MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.C1830S|MYLK_ENST00000359169.1_Missense_Mutation_p.C1779S|MYLK_ENST00000578202.1_Missense_Mutation_p.C69S|MYLK_ENST00000418370.2_Missense_Mutation_p.C70S|MYLK_ENST00000354792.5_Missense_Mutation_p.C630S|MYLK_ENST00000583087.1_Missense_Mutation_p.C70S|MYLK_ENST00000475616.1_Missense_Mutation_p.C1830S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.C1761S|MYLK-AS1_ENST00000470449.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1830					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAATCTTGCAGTCAAATCTA	0.473000													9	88					0	0	0.080935	0	0
FERMT3	83706	broad.mit.edu	37	11	63990560	63990560	+	Missense_Mutation	SNP	A	A	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:63990560A>C	ENST00000279227.5	+	14	1818	c.1723A>C	c.(1723-1725)Aac>Cac	p.N575H	FERMT3_ENST00000345728.5_Missense_Mutation_p.N571H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	575					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGGCATCGCCAACAACCGACT	0.627000													13	53					0	0	0.105934	0	0
TH	7054	broad.mit.edu	37	11	2189733	2189733	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:2189733C>A	ENST00000381178.1	-	4	586	c.568G>T	c.(568-570)Gcg>Tcg	p.A190S	TH_ENST00000333684.5_Missense_Mutation_p.A163S|TH_ENST00000352909.3_Missense_Mutation_p.A159S|TH_ENST00000381175.1_Missense_Mutation_p.A186S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	190					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TTGGGCCCCGCGGGGCTGCGC	0.687000													3	28					0.004672	0.00489448	0.004672	1	0
UBE4B	10277	broad.mit.edu	37	1	10197176	10197176	+	Missense_Mutation	SNP	T	T	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:10197176T>G	ENST00000377157.3	+	16	2602	c.1541T>G	c.(1540-1542)tTt>tGt	p.F514C	UBE4B_ENST00000253251.8_Missense_Mutation_p.F630C|UBE4B_ENST00000343090.6_Missense_Mutation_p.F759C	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	759					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAGTGCTTCTTTCTCACCCTG	0.468000													9	94					0	0	0.047766	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877931	39877931	+	Nonsense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:39877931C>G	ENST00000530275.1	+	1	1781	c.1586C>G	c.(1585-1587)tCa>tGa	p.S529*	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	529										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGTTACCTCAGGACCTGAA	0.393000													7	143					0	0	0.047766	0	0
MTUS2	23281	broad.mit.edu	37	13	29600083	29600083	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr13:29600083A>T	ENST00000431530.3	+	1	1336	c.1278A>T	c.(1276-1278)ccA>ccT	p.P426P		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	416						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAATTTCACCATGTGCAGGTG	0.512000													9	41					0	0	0.047766	0	0
NOL4	8715	broad.mit.edu	37	18	31803075	31803075	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr18:31803075G>T	ENST00000261592.5	-	1	440	c.143C>A	c.(142-144)aCg>aAg	p.T48K	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.T48K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	48						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCGTTGTCCGTGGAGCTCGA	0.597000													9	71					3.86212e-05	4.43856e-05	0.069234	1	0
ITGA10	8515	broad.mit.edu	37	1	145534172	145534172	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:145534172G>A	ENST00000369304.3	+	14	1852	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	ITGA10_ENST00000539363.1_Silent_p.L416L|ITGA10_ENST00000538811.1_Silent_p.L428L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	559					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGATCTGAACCAAGATG	0.582000													10	180					0	0	0.080935	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249937	140249937	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr5:140249937G>A	ENST00000398640.2	+	1	1249	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAGAACGTGTGGGCCTA	0.622000													12	176					0	0	0.093190	0	0
CLYBL	171425	broad.mit.edu	37	13	100511246	100511246	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr13:100511246G>T	ENST00000376355.3	+	3	412	c.381G>T	c.(379-381)cgG>cgT	p.R127R	CLYBL_ENST00000339105.4_Silent_p.R127R|CLYBL_ENST00000376354.1_Silent_p.R127R|CLYBL_ENST00000376360.1_Silent_p.R127R|CLYBL_ENST00000444838.2_Silent_p.R127R	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	127					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCAATCCCGGGTCCTTCCTT	0.488000													9	28					2.74318e-10	3.7057e-10	0.058154	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17699682	17699682	+	Translation_Start_Site	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:17699682T>A	ENST00000399080.2	-	1	24	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGGAGAGACATGACAGCGAAT	0.622000													14	95					0	0	0.028581	0	0
ABCA1	19	broad.mit.edu	37	9	107618283	107618283	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr9:107618283G>A	ENST00000423487.2	-	8	1103	c.807C>T	c.(805-807)ccC>ccT	p.P269P	ABCA1_ENST00000374736.3_Intron			O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	0					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATCATGTTGGGCTTTGCAT	0.423000													9	39					0	0	0.058154	0	0
FLG	2312	broad.mit.edu	37	1	152282874	152282874	+	Missense_Mutation	SNP	G	G	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:152282874G>C	ENST00000368799.1	-	3	4523	c.4488C>G	c.(4486-4488)agC>agG	p.S1496R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1496	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCTGCTTGACCCCG	0.577000									Ichthyosis				219	475					0	0	0.048971	0	0
NEURL1	9148	broad.mit.edu	37	10	105350046	105350046	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr10:105350046C>T	ENST00000369780.4	+	6	2051	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	NEURL_ENST00000369777.2_Missense_Mutation_p.R531C|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		548					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGTGGCCTGCGCCTCAAGAA	0.622000													7	40					0	0	0.029380	0	0
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:61513083C>T	ENST00000266070.4	-	16	4550	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E1409*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602000													13	108					0	0	0.020292	0	0
TGM3	7053	broad.mit.edu	37	20	2293605	2293605	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:2293605G>T	ENST00000381458.5	+	5	665	c.602G>T	c.(601-603)cGt>cTt	p.R201L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	201					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R201H(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AATTTCCGCCGTGACGCTGCT	0.463000													11	78					0.000978159	0.00106834	0.080935	1	0
PAPSS1	9061	broad.mit.edu	37	4	108578069	108578069	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr4:108578069A>T	ENST00000265174.4	-	7	1150	c.878T>A	c.(877-879)tTt>tAt	p.F293Y	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	293					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AAGACAATCAAAATGAAGGCA	0.393000													16	48					0	0	0.033300	0	0
DOCK8	81704	broad.mit.edu	37	9	371489	371489	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr9:371489C>T	ENST00000432829.2	+	17	2042	c.1726C>T	c.(1726-1728)Cac>Tac	p.H576Y	DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000469391.1_Missense_Mutation_p.H576Y|DOCK8_ENST00000382329.1_Missense_Mutation_p.H111Y|DOCK8_ENST00000453981.1_Missense_Mutation_p.H644Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	644					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTAAATCACCACCTCCTGTT	0.438000													5	65					0	0	0.021553	0	0
TRPM8	79054	broad.mit.edu	37	2	234871956	234871956	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:234871956C>G	ENST00000324695.4	+	13	1724	c.1684C>G	c.(1684-1686)Caa>Gaa	p.Q562E	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q250E	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	562						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCACCCCCTGCAAGCTCTCTT	0.502000													3	43					0	0	0.009096	0	0
OR4A5	81318	broad.mit.edu	37	11	51412273	51412273	+	Silent	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:51412273C>A	ENST00000319760.6	-	1	175	c.123G>T	c.(121-123)ctG>ctT	p.L41L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCACAATGAGCAGGTTCCCCA	0.448000													12	32					2.27111e-07	2.82057e-07	0.093190	1	0
SRPX	8406	broad.mit.edu	37	X	38020261	38020261	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:38020261C>A	ENST00000378533.3	-	6	806	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	SRPX_ENST00000538295.1_Missense_Mutation_p.D234Y|SRPX_ENST00000544439.1_Missense_Mutation_p.D214Y|SRPX_ENST00000432886.2_Missense_Mutation_p.D175Y|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.D221Y	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	234	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ATCTTGTGGTCTCCTTCTGGA	0.418000													8	52					0.000157383	0.000178213	0.038147	1	0
TRIB1	10221	broad.mit.edu	37	8	126445584	126445584	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr8:126445584A>T	ENST00000311922.3	+	2	968	c.386A>T	c.(385-387)gAc>gTc	p.D129V	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000520847.1_5'UTR	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	129	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CACTACCAGGACAAAATCAGG	0.512000													30	245					0	0	0.059317	0	0
OR5T2	219464	broad.mit.edu	37	11	55999948	55999948	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:55999948G>T	ENST00000313264.4	-	1	789	c.714C>A	c.(712-714)ctC>ctA	p.L238L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	238			L -> V (in dbSNP:rs12221615).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAAGTAGAAGAGTAGAAGCT	0.428000													14	87					4.93089e-13	6.71998e-13	0.020292	1	0
HNF4A	3172	broad.mit.edu	37	20	43034755	43034755	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:43034755C>T	ENST00000316099.3	+	2	262	c.173C>T	c.(172-174)gCc>gTc	p.A58V	HNF4A_ENST00000457232.1_Missense_Mutation_p.A36V|HNF4A_ENST00000443598.2_Missense_Mutation_p.A58V|HNF4A_ENST00000415691.1_Missense_Mutation_p.A58V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	58					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGTCAGCGCCCTGTGTGCC	0.632000													37	133					0	0	0.074837	0	0
POTEF	728378	broad.mit.edu	37	2	130832520	130832520	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:130832520A>T	ENST00000357462.5	-	15	2618	c.2525T>A	c.(2524-2526)cTg>cAg	p.L842Q	POTEF_ENST00000409914.2_Missense_Mutation_p.L842Q			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	842	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGAGGTGTACAGGGACAGCAC	0.587000													41	428					0	0	0.111260	0	0
OR56B1	387748	broad.mit.edu	37	11	5758467	5758467	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:5758467G>A	ENST00000317121.3	+	1	787	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GAACTCAGCTGAAGCTGCAGC	0.423000													21	83					0	0	0.049695	0	0
VPS33B	26276	broad.mit.edu	37	15	91548985	91548985	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr15:91548985C>T	ENST00000333371.3	-	13	1322	c.969G>A	c.(967-969)atG>atA	p.M323I	VPS33B_ENST00000535843.1_Missense_Mutation_p.M232I|VPS33B_ENST00000535906.1_Missense_Mutation_p.M296I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	323					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAAATTCTTCATCTGCTTAA	0.567000													9	85					0	0	0.058154	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638205	149638205	+	Silent	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:149638205G>T	ENST00000370401.2	+	4	670	c.360G>T	c.(358-360)gcG>gcT	p.A120A	MAMLD1_ENST00000432680.2_Silent_p.A95A|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000426613.2_Silent_p.A95A|MAMLD1_ENST00000262858.5_Silent_p.A120A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	120					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCGGCTATGGGAG	0.512000													14	104					2.62699e-14	3.61211e-14	0.024245	1	0
ACSM5	54988	broad.mit.edu	37	16	20430747	20430747	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr16:20430747G>A	ENST00000331849.4	+	4	760	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ACSM5_ENST00000575584.1_Missense_Mutation_p.E205K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	205					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAACTTCAGGGAACTCCTCCG	0.517000													12	37					0	0	0.105934	0	0
GDE1	51573	broad.mit.edu	37	16	19514835	19514835	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr16:19514835T>C	ENST00000353258.3	-	6	1133	c.953A>G	c.(952-954)tAt>tGt	p.Y318C		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	318	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GTCAGTGATATAGCTGGAACC	0.458000											OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	77					0	0	0.093190	0	0
STXBP5	134957	broad.mit.edu	37	6	147581750	147581750	+	Splice_Site	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr6:147581750G>T	ENST00000367481.3	+	5	539		c.e5-1		STXBP5_ENST00000321680.6_Splice_Site|STXBP5_ENST00000179882.6_Splice_Site|STXBP5_ENST00000546097.1_Splice_Site|STXBP5_ENST00000367480.3_Splice_Site	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTCTCTTGCAGGGTTACATTT	0.353000													7	32					0.00198382	0.00210695	0.029380	1	0
KRT6B	3854	broad.mit.edu	37	12	52845437	52845437	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr12:52845437C>A	ENST00000252252.3	-	1	473	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	142	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.Q142H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCAGGAGACTCTGGTTGACAG	0.622000													12	160					0.00136819	0.00146321	0.093190	1	0
SIPA1	6494	broad.mit.edu	37	11	65408900	65408900	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:65408900G>A	ENST00000394224.3	+	2	804	c.508G>A	c.(508-510)Ggg>Agg	p.G170R	SIPA1_ENST00000394227.3_Missense_Mutation_p.G170R|SIPA1_ENST00000534313.1_Missense_Mutation_p.G170R|SIPA1_ENST00000527525.1_Missense_Mutation_p.G170R	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	170					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTGTGAGCTCGGGGGTGAGGG	0.677000													6	77					0	0	0.029380	0	0
SALL4	57167	broad.mit.edu	37	20	50407055	50407055	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:50407055G>A	ENST00000217086.4	-	2	2078	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	656					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCAGGGGCGTGTTGGGAAT	0.547000													5	64					0	0	0.021553	0	0
DLX4	1748	broad.mit.edu	37	17	48051138	48051138	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr17:48051138G>A	ENST00000240306.3	+	3	849	c.554G>A	c.(553-555)gGg>gAg	p.G185E	DLX4_ENST00000411890.2_Missense_Mutation_p.G113E	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	185					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GGGCAGGAAGGGGACTTCCCT	0.557000													37	127					0	0	0.064281	0	0
IFT88	8100	broad.mit.edu	37	13	21205212	21205212	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr13:21205212G>T	ENST00000382778.4	+	17	2502	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	IFT88_ENST00000351808.5_Missense_Mutation_p.A453S|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000319980.6_Missense_Mutation_p.A462S|IFT88_ENST00000537103.1_Missense_Mutation_p.A434S			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	462					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAGTGCAGCTGCAACCAATCT	0.343000													11	69					2.80697e-09	3.66334e-09	0.080935	1	0
FAM9A	171482	broad.mit.edu	37	X	8759376	8759376	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:8759376A>T	ENST00000543214.1	-	9	1110	c.975T>A	c.(973-975)agT>agA	p.S325R	FAM9A_ENST00000381003.3_Missense_Mutation_p.S325R	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	325						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CACTTTCTTCACTGGAAGAAA	0.343000													4	24					0	0	0.009096	0	0
OR2F1	26211	broad.mit.edu	37	7	143657663	143657663	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:143657663G>T	ENST00000392899.1	+	1	637	c.600G>T	c.(598-600)atG>atT	p.M200I		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCACCATCATGGTGTCTAGCA	0.473000													19	74					8.34094e-07	1.01142e-06	0.049695	1	0
ZNF813	126017	broad.mit.edu	37	19	53989968	53989968	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:53989968A>G	ENST00000396403.4	+	3	226	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	ZNF813_ENST00000396421.4_Missense_Mutation_p.Y33C	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGGACTCTATACAGGGACGTG	0.473000													22	131					0	0	0.091800	0	0
CYTH4	27128	broad.mit.edu	37	22	37707058	37707058	+	Missense_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr22:37707058T>A	ENST00000248901.6	+	10	1025	c.838T>A	c.(838-840)Tgg>Agg	p.W280R		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	280	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAAACGGCGCTGGTTCATCCT	0.637000													12	129					0	0	0.105934	0	0
DEFA4	1669	broad.mit.edu	37	8	6793542	6793542	+	Nonstop_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr8:6793542T>A	ENST00000297435.2	-	3	418	c.294A>T	c.(292-294)taA>taT	p.*98Y		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	0					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CAGCAGAACGTTAATCGACAC	0.488000													15	93					0	0	0.024245	0	0
M1AP	130951	broad.mit.edu	37	2	74834325	74834325	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:74834325C>T	ENST00000290536.5	-	4	568	c.452G>A	c.(451-453)gGa>gAa	p.G151E	M1AP_ENST00000536235.1_Missense_Mutation_p.G151E|M1AP_ENST00000409585.1_Missense_Mutation_p.G151E|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CACCTCTTTTCCAGGCTGAGA	0.443000													6	70					0	0	0.021553	0	0
NFASC	23114	broad.mit.edu	37	1	204953227	204953227	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:204953227G>T	ENST00000367172.4	+	22	2871	c.2543G>T	c.(2542-2544)cGc>cTc	p.R848L	NFASC_ENST00000339876.6_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.R844L|NFASC_ENST00000367171.4_Missense_Mutation_p.R833L|NFASC_ENST00000404907.1_Missense_Mutation_p.R844L|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000513543.1_Missense_Mutation_p.R844L|NFASC_ENST00000338515.6_Missense_Mutation_p.R848L|NFASC_ENST00000539706.1_Missense_Mutation_p.R844L|NFASC_ENST00000404076.1_Missense_Mutation_p.R827L|NFASC_ENST00000367170.4_Missense_Mutation_p.R848L|NFASC_ENST00000338586.6_Missense_Mutation_p.R848L			O94856	NFASC_HUMAN	neurofascin	848	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGTGGAACCGCGTCTACTCC	0.587000													4	63					0.00116845	0.00125833	0.021553	1	0
SLC30A1	7779	broad.mit.edu	37	1	211749082	211749082	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:211749082T>C	ENST00000367001.4	-	2	1301	c.1172A>G	c.(1171-1173)gAa>gGa	p.E391G		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	391					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TGTTGGATCTTCACATTTTAT	0.388000													3	65					0	0	0.004672	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	44					0	0	0.021553	0	0
WRN	7486	broad.mit.edu	37	8	30938527	30938527	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr8:30938527A>T	ENST00000298139.5	+	9	1233	c.984A>T	c.(982-984)gtA>gtT	p.V328V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	328					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGGGGGAGTACAACAGAAAC	0.368000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	37					0	0	0.029380	0	0
UNC5A	90249	broad.mit.edu	37	5	176301080	176301080	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr5:176301080G>T	ENST00000329542.4	+	7	1272	c.998G>T	c.(997-999)gGg>gTg	p.G333V	UNC5A_ENST00000261961.3_Missense_Mutation_p.G293V	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	333					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGGAGGGGCTGGACTCA	0.632000													8	39					5.4927e-09	7.1082e-09	0.047766	1	0
OR1K1	392392	broad.mit.edu	37	9	125562995	125562995	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr9:125562995G>A	ENST00000277309.2	+	1	626	c.594G>A	c.(592-594)ctG>ctA	p.L198L		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACATCCAGCTGCTCATCTTCA	0.617000													13	78					0	0	0.105934	0	0
DGKK	139189	broad.mit.edu	37	X	50213491	50213491	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:50213491G>T	ENST00000376025.2	-	0	246							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGGGACCTGGAGCAAGCTCT	0.672000													12	133					0.000978159	0.00106834	0.080935	1	0
ASMT	438	broad.mit.edu	37	X	1746614	1746614	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:1746614C>T	ENST00000381241.3	+	4	592	c.393C>T	c.(391-393)taC>taT	p.Y131Y	ASMT_ENST00000381233.3_Silent_p.Y131Y|ASMT_ENST00000381229.4_Silent_p.Y131Y	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	131					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAACCAGTACCTGGAGACGT	0.378000													15	157					0	0	0.020292	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416145	96416145	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr13:96416145A>G	ENST00000602402.1	+	9	1130	c.1013A>G	c.(1012-1014)gAc>gGc	p.D338G	DNAJC3_ENST00000376795.6_Missense_Mutation_p.D287G	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	338					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATGGAACCTGACAATGTGAAT	0.393000													10	74					0	0	0.058154	0	0
PAK7	57144	broad.mit.edu	37	20	9546635	9546635	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:9546635C>T	ENST00000378429.3	-	6	1933	c.1387G>A	c.(1387-1389)Gta>Ata	p.V463I	PAK7_ENST00000378423.1_Missense_Mutation_p.V463I|PAK7_ENST00000353224.5_Missense_Mutation_p.V463I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	463	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.V463L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCGATGCATACGATGCCGGTT	0.522000													6	143					0	0	0.029380	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256140	15256140	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr10:15256140C>G	ENST00000378116.4	-	8	1453	c.1447G>C	c.(1447-1449)Gat>Cat	p.D483H		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	483						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTGTAGTCATCATTGCCCGAG	0.483000													15	83					0	0	0.020292	0	0
QPCT	25797	broad.mit.edu	37	2	37594376	37594376	+	Splice_Site	SNP	C	C	G	rs151306583		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:37594376C>G	ENST00000338415.3	+	4	706	c.546_splice	c.e4-1	p.T183_splice	QPCT_ENST00000537448.1_Splice_Site_p.T134_splice	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	183					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTTACCAGACTGTTTCAGAC	0.363000													11	76					0	0	0.105934	0	0
ITGA5	3678	broad.mit.edu	37	12	54801969	54801969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr12:54801969C>A	ENST00000293379.4	-	7	1003	c.742G>T	c.(742-744)Gag>Tag	p.E248*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	248					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ATCAGGTACTCGGGGTAATAA	0.547000													13	45					1.49906e-05	1.77581e-05	0.020292	1	0
EYS	346007	broad.mit.edu	37	6	66204723	66204723	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr6:66204723C>A	ENST00000503581.1	-	4	1118	c.581G>T	c.(580-582)tGg>tTg	p.W194L	EYS_ENST00000393380.2_Missense_Mutation_p.W194L|EYS_ENST00000370618.3_Missense_Mutation_p.W194L|EYS_ENST00000370616.2_Missense_Mutation_p.W194L|EYS_ENST00000370621.3_Missense_Mutation_p.W194L|EYS_ENST00000342421.5_Missense_Mutation_p.W194L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	194	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTCTTGCTCCAAGCTTCACT	0.418000													5	20					3.59834e-05	4.19806e-05	0.021553	1	0
CPB2	1361	broad.mit.edu	37	13	46632454	46632454	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr13:46632454G>T	ENST00000181383.4	-	9	875	c.859C>A	c.(859-861)Cca>Aca	p.P287T	CPB2_ENST00000439329.3_Missense_Mutation_p.P250T|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	287					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TTCACTTCTGGTTCTGACTCA	0.418000													6	87					0.00116845	0.00125833	0.021553	1	0
PSG11	5680	broad.mit.edu	37	19	43523108	43523108	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:43523108C>G	ENST00000401740.1	-	3	626	c.523G>C	c.(523-525)Gac>Cac	p.D175H	PSG11_ENST00000306322.7_Missense_Mutation_p.D53H|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Missense_Mutation_p.D175H|PSG11_ENST00000403486.1_Missense_Mutation_p.D53H			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	175	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TAGCTTGCGTCCGGAGTCTCA	0.527000													26	336					0	0	0.083992	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964049	33964049	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr5:33964049C>A	ENST00000382102.3	-	3	692	c.635G>T	c.(634-636)gGt>gTt	p.G212V	SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.G212V|SLC45A2_ENST00000342059.3_Missense_Mutation_p.G153V	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	212					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GAATTCTGTACCCAACAGTCT	0.473000													14	47					3.27435e-08	4.0996e-08	0.020292	1	0
ADNP2	22850	broad.mit.edu	37	18	77895840	77895840	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr18:77895840C>G	ENST00000262198.4	+	4	2999	c.2544C>G	c.(2542-2544)caC>caG	p.H848Q		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	848					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTGGGATACACTCCAAGTCAC	0.567000													13	83					0	0	0.024245	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944882	43944882	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr12:43944882C>T	ENST00000389420.3	-	2	282	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A95T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	95						proteinaceous extracellular matrix	zinc ion binding	p.A95T(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATGCATCGGCGGTCAGGTTC	0.677000													7	74					0	0	0.029380	0	0
GABRQ	55879	broad.mit.edu	37	X	151815621	151815621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:151815621C>A	ENST00000370306.2	+	4	539	c.519C>A	c.(517-519)taC>taA	p.Y173*		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	173						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.Y173Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CGGTGCGGTACGGCATCCGGT	0.517000													5	49					5.9392e-07	7.25902e-07	0.021553	1	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													4	40					0	0	0.009096	0	0
YARS2	51067	broad.mit.edu	37	12	32908428	32908428	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr12:32908428C>G	ENST00000324868.8	-	1	408	c.381G>C	c.(379-381)aaG>aaC	p.K127N		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	127					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	CCTCGCGTTCCTTGGTACGGC	0.682000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	40					0	0	0.014758	0	0
USH2A	7399	broad.mit.edu	37	1	216251437	216251437	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:216251437C>G	ENST00000366943.2	-	27	5952	c.5566G>C	c.(5566-5568)Gaa>Caa	p.E1856Q	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1856Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1856	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTACCTTGTTCCAAACACAAA	0.458000										HNSCC(13;0.011)			6	88					0	0	0.029380	0	0
UNC5A	90249	broad.mit.edu	37	5	176304986	176304986	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr5:176304986G>A	ENST00000329542.4	+	11	2001	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	UNC5A_ENST00000261961.3_Missense_Mutation_p.G536D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	576					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCTGGGCCGCTTTGCC	0.667000													15	36					0	0	0.020292	0	0
PDE1C	5137	broad.mit.edu	37	7	31862712	31862712	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:31862712C>T	ENST00000396184.3	-	15	1761	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	PDE1C_ENST00000396182.2_Silent_p.E519E|PDE1C_ENST00000396193.1_Silent_p.E579E|PDE1C_ENST00000396191.1_Silent_p.E519E|PDE1C_ENST00000321453.7_Silent_p.E519E	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	519	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCCTCCATCTCTCCCGATTGA	0.468000													12	136					0	0	0.024245	0	0
LIMS1	3987	broad.mit.edu	37	2	109292448	109292448	+	Silent	SNP	C	C	T	rs111779374		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr2:109292448C>T	ENST00000393310.1	+	6	776	c.609C>T	c.(607-609)cgC>cgT	p.R203R	LIMS1_ENST00000338045.3_Silent_p.R203R|LIMS1_ENST00000542845.1_Silent_p.R265R|LIMS1_ENST00000410093.1_Silent_p.R207R|LIMS1_ENST00000332345.6_Silent_p.R203R|LIMS1_ENST00000409441.1_Silent_p.R240R|LIMS1_ENST00000544547.1_Silent_p.R215R	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537000													8	35					0	0	0.038147	0	0
AGBL2	79841	broad.mit.edu	37	11	47712126	47712126	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:47712126G>A	ENST00000525123.1	-	10	1418	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M	AGBL2_ENST00000528244.1_Missense_Mutation_p.T340M|AGBL2_ENST00000298861.4_Missense_Mutation_p.T378M|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.T378M	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AATGGTCCACGTGAGACAGTA	0.468000													22	98					0	0	0.083992	0	0
TJP3	27134	broad.mit.edu	37	19	3736270	3736270	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:3736270G>A	ENST00000541714.2	+	11	1697	c.1235G>A	c.(1234-1236)gGc>gAc	p.G412D	TJP3_ENST00000589378.1_Missense_Mutation_p.G421D|TJP3_ENST00000382008.3_Missense_Mutation_p.G426D|TJP3_ENST00000587686.1_Missense_Mutation_p.G431D|TJP3_ENST00000262968.9_Missense_Mutation_p.G445D|TJP3_ENST00000539908.2_Missense_Mutation_p.G376D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	426	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCAGGCGGGCAGCCCGGCC	0.697000													3	30					0	0	0.009096	0	0
USP35	57558	broad.mit.edu	37	11	77918630	77918630	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:77918630C>T	ENST00000529308.1	+	8	1707	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	USP35_ENST00000441408.2_Silent_p.T68T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T213T|USP35_ENST00000530267.1_Silent_p.T50T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	482					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCCTGATGACCAAGCTGCAGT	0.582000													17	104					0	0	0.038395	0	0
NELL1	4745	broad.mit.edu	37	11	21592368	21592368	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:21592368T>C	ENST00000298925.5	+	19	2276	c.2123T>C	c.(2122-2124)cTa>cCa	p.L708P	NELL1_ENST00000325319.5_Missense_Mutation_p.L623P|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.L680P|NELL1_ENST00000532434.1_Missense_Mutation_p.L633P			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	680	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGCTGACCTATTCTGTTGC	0.438000													16	82					0	0	0.028581	0	0
BTC	685	broad.mit.edu	37	4	75673268	75673268	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr4:75673268C>G	ENST00000395743.3	-	5	880	c.520G>C	c.(520-522)Gag>Cag	p.E174Q		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	174					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			ATATTTGTCTCTTCAATATCT	0.338000													3	52					0	0	0.004672	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177188	89177188	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:89177188G>T	ENST00000561129.2	+	1	234	c.104G>T	c.(103-105)aGa>aTa	p.R35I	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R35I			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	35						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATCATGTCGAGAAATAACGCA	0.582000													10	42					2.80697e-09	3.66334e-09	0.080935	1	0
ATP2A2	488	broad.mit.edu	37	12	110783811	110783811	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr12:110783811C>T	ENST00000395494.2	+	18	3229	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F|ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCAGCTTGTCCGAAAACCAG	0.572000													13	73					0	0	0.093190	0	0
RMND5B	64777	broad.mit.edu	37	5	177571094	177571094	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr5:177571094C>G	ENST00000515098.1	+	8	1030	c.679C>G	c.(679-681)Cgg>Ggg	p.R227G	RMND5B_ENST00000313386.4_Missense_Mutation_p.R227G|RMND5B_ENST00000542098.1_Missense_Mutation_p.R214G			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	227								p.R227W(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTTTGCTCGGCTGCACCA	0.637000													5	67					0	0	0.014758	0	0
CLEC11A	6320	broad.mit.edu	37	19	51228604	51228604	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:51228604C>T	ENST00000599973.1	+	4	904	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	CLEC11A_ENST00000250340.4_Silent_p.S284S			Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	164	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATCCGCTCAGCCCGGACCAGC	0.701000													6	15					0	0	0.029380	0	0
CAMK2B	816	broad.mit.edu	37	7	44298523	44298523	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:44298523G>A	ENST00000395749.2	-	4	299	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	CAMK2B_ENST00000457475.1_Missense_Mutation_p.R75C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.R75C|CAMK2B_ENST00000350811.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000258682.6_Missense_Mutation_p.R75C|CAMK2B_ENST00000358707.3_Missense_Mutation_p.R75C|CAMK2B_ENST00000347193.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000353625.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.R75C|CAMK2B_ENST00000395747.2_Missense_Mutation_p.R75C	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	75	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TCGTGGAGACGCACTGTGGGG	0.612000													8	13					0	0	0.047766	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290803	141290803	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:141290803G>T	ENST00000247452.3	-	3	1318	c.971C>A	c.(970-972)aCt>aAt	p.T324N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	324	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAGGAACAGTGTTGTTCAG	0.453000										HNSCC(46;0.14)			27	103					2.79863e-10	3.74773e-10	0.099896	1	0
CCSER1	401145	broad.mit.edu	37	4	91230499	91230499	+	Missense_Mutation	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr4:91230499T>A	ENST00000509176.1	+	2	1352	c.1064T>A	c.(1063-1065)cTa>cAa	p.L355Q	CCSER1_ENST00000432775.2_Missense_Mutation_p.L355Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.L355Q	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATTGCTGAACTACCTGCTACA	0.408000													15	53					0	0	0.033300	0	0
MYH3	4621	broad.mit.edu	37	17	10537453	10537453	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr17:10537453A>G	ENST00000583535.1	-	32	4490	c.4403T>C	c.(4402-4404)cTg>cCg	p.L1468P	MYH3_ENST00000226209.7_Missense_Mutation_p.L1468P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1468					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGATGCCTCCAGCTCTGCTTG	0.507000													5	103					0	0	0.021553	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672764	141672764	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:141672764G>T	ENST00000547270.1	-	1	809	c.726C>A	c.(724-726)caC>caA	p.H242Q		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	242					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GGGCTTTAATGTGGGCCTCCA	0.507000													16	50					2.31682e-05	2.72359e-05	0.024245	1	0
ZNF511	118472	broad.mit.edu	37	10	135125252	135125252	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr10:135125252G>T	ENST00000359035.3	+	5	590	c.587G>T	c.(586-588)gGa>gTa	p.G196V	ZNF511_ENST00000361518.5_Missense_Mutation_p.G196V|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.G131V			Q8NB15	ZN511_HUMAN	zinc finger protein 511	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GGGGACAGTGGAGAGCGGTCA	0.627000													10	62					0.000673444	0.000751524	0.069234	1	0
CNST	163882	broad.mit.edu	37	1	246810486	246810486	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:246810486A>G	ENST00000366513.4	+	9	1252	c.983A>G	c.(982-984)cAt>cGt	p.H328R	CNST_ENST00000366512.3_Missense_Mutation_p.H328R|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	328					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GAAAGCCAACATACAGTGGAG	0.433000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	90					0	0	0.069288	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	62					0	0	0.009096	0	0
DACH2	117154	broad.mit.edu	37	X	85769325	85769325	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:85769325C>A	ENST00000373131.1	+	2	695	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	DACH2_ENST00000373125.4_Missense_Mutation_p.Q191K|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.Q24K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGGAGTGTTGCAGGAAAATGC	0.448000													6	22					0.0293803	0.0301638	0.029380	1	0
ZNF845	91664	broad.mit.edu	37	19	53854728	53854728	+	Missense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr19:53854728G>T	ENST00000458035.1	+	4	917	c.800G>T	c.(799-801)gGc>gTc	p.G267V	ZNF845_ENST00000595091.1_Missense_Mutation_p.G267V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGTCACACTGGCAAGAAACCT	0.393000													7	61					2.7689e-08	3.52405e-08	0.029380	1	0
HOXB1	3211	broad.mit.edu	37	17	46607756	46607756	+	Missense_Mutation	SNP	C	C	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr17:46607756C>G	ENST00000239174.6	-	1	603	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	HOXB1_ENST00000577092.1_Missense_Mutation_p.E171Q	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	171						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTTAGGTTCTGAAGGGCAG	0.602000													7	40					0	0	0.029380	0	0
IRX4	50805	broad.mit.edu	37	5	1882049	1882049	+	Missense_Mutation	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr5:1882049A>T	ENST00000505790.1	-	3	626	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	IRX4_ENST00000513692.1_Missense_Mutation_p.L57Q|IRX4_ENST00000231357.2_Missense_Mutation_p.L57Q	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	57					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGCGGTGGCCAGCAGCCGGCT	0.731000													4	6					0	0	0.009096	0	0
GFRAL	389400	broad.mit.edu	37	6	55196548	55196548	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr6:55196548C>A	ENST00000340465.2	+	2	144	c.58C>A	c.(58-60)Caa>Aaa	p.Q20K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	20						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATACACTTCCCAAACCAATAA	0.348000													3	31					6.4e-05	7.30074e-05	0.004672	1	0
CCNY	219771	broad.mit.edu	37	10	35842027	35842027	+	Silent	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr10:35842027C>T	ENST00000374704.4	+	8	840	c.660C>T	c.(658-660)atC>atT	p.I220I	CCNY_ENST00000339497.5_Silent_p.I195I|CCNY_ENST00000374706.1_Silent_p.I166I|CCNY_ENST00000265375.9_Silent_p.I166I|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	220	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TAGGGGCGATCCTGCTGGCCT	0.512000													8	83					0	0	0.038147	0	0
MUC4	4585	broad.mit.edu	37	3	195515885	195515885	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr3:195515885C>T	ENST00000463781.3	-	2	3025	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A856T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	861	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGGGATGGCACCATGACTG	0.577000													6	45					0	0	0.029380	0	0
PREX2	80243	broad.mit.edu	37	8	69021837	69021837	+	Missense_Mutation	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr8:69021837T>C	ENST00000288368.4	+	25	3402	c.3125T>C	c.(3124-3126)aTg>aCg	p.M1042T		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1042					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGGTGGAGATGTGTGTTTGT	0.363000													12	37					0	0	0.093190	0	0
PIGB	9488	broad.mit.edu	37	15	55613537	55613537	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr15:55613537A>T	ENST00000164305.5	+	3	657	c.366A>T	c.(364-366)gcA>gcT	p.A122A	PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	122					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TAATCTTTGCAAGCATTTACA	0.328000													5	10					0	0	0.038147	0	0
MET	4233	broad.mit.edu	37	7	116412044	116412044	+	Splice_Site	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr7:116412044G>A	ENST00000397752.3	+	14	3228		c.e14+1		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(4)|p.?(3)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCCAGAAGGTATATTTCAG	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				8	22					0	0	0.047766	0	0
DGKK	139189	broad.mit.edu	37	X	50213490	50213490	+	RNA	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:50213490G>T	ENST00000376025.2	-	0	247							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACAGGGACCTGGAGCAAGCTC	0.672000													12	137					0.000978159	0.00106834	0.080935	1	0
ERCC6L	54821	broad.mit.edu	37	X	71424945	71424945	+	Silent	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:71424945A>G	ENST00000373657.1	-	3	3905	c.3303T>C	c.(3301-3303)gtT>gtC	p.V1101V	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.V1224V			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1224					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAGCGCTTTAACTAAGCAGT	0.373000													4	45					0	0	0.009096	0	0
CCDC147	159686	broad.mit.edu	37	10	106121912	106121912	+	Silent	SNP	A	A	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr10:106121912A>T	ENST00000369704.3	+	3	557	c.423A>T	c.(421-423)tcA>tcT	p.S141S	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	141										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTGGACTGTCAATGGACCAGC	0.488000													3	8					0	0	0.004672	0	0
NBEAP1	606	broad.mit.edu	37	15	20876452	20876452	+	RNA	SNP	G	G	A	rs6422239	by1000genomes	TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr15:20876452G>A	ENST00000556948.1	-	0	148																											CTTTGCAGGTGTATGTATCCA	0.333000													4	48					0	0	0.009096	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900386	151900386	+	Missense_Mutation	SNP	C	C	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:151900386C>T	ENST00000393900.3	-	3	768	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.V139I|MAGEA12_ENST00000393869.3_Missense_Mutation_p.V139I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	139	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTGATGACACTCCCCAGC	0.502000													16	181					0	0	0.033300	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303721	151303721	+	Silent	SNP	T	T	C			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chrX:151303721T>C	ENST00000370323.4	-	4	688	c.372A>G	c.(370-372)ccA>ccG	p.P124P	MAGEA10_ENST00000244096.3_Silent_p.P124P|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	124										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTGTCTGGCAGGACCT	0.502000													18	149					0	0	0.038395	0	0
FAT3	120114	broad.mit.edu	37	11	92615964	92615964	+	Silent	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:92615964G>A	ENST00000298047.6	+	23	12359	c.12342G>A	c.(12340-12342)gtG>gtA	p.V4114V	FAT3_ENST00000533797.1_Silent_p.V449V|FAT3_ENST00000409404.2_Silent_p.V4114V|FAT3_ENST00000525166.1_Silent_p.V3964V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4114	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTCCTGCGTGAACGTGTTCG	0.637000										TCGA Ovarian(4;0.039)			5	12					0	0	0.021553	0	0
ALX4	60529	broad.mit.edu	37	11	44289169	44289169	+	Missense_Mutation	SNP	A	A	G			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:44289169A>G	ENST00000329255.3	-	3	884	c.781T>C	c.(781-783)Tgg>Cgg	p.W261R		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	261					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCTGGAACCAGACCTACAAG	0.577000													20	69					0	0	0.055883	0	0
COL15A1	1306	broad.mit.edu	37	9	101787221	101787221	+	Silent	SNP	T	T	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr9:101787221T>A	ENST00000375001.3	+	15	2343	c.1920T>A	c.(1918-1920)gtT>gtA	p.V640V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	640	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAACTGATGTTTTCATGGGAC	0.567000													11	45					0	0	0.069234	0	0
RAG1	5896	broad.mit.edu	37	11	36596428	36596428	+	Missense_Mutation	SNP	C	C	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:36596428C>A	ENST00000299440.5	+	2	1686	c.1574C>A	c.(1573-1575)cCt>cAt	p.P525H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	525			P -> S (in dbSNP:rs4151032).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGGCAGCCACCTCTGAAGAAT	0.493000									Familial Hemophagocytic Lymphohistiocytosis				20	77					2.4624e-09	3.26904e-09	0.049695	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814552	106814552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr8:106814552G>T	ENST00000407775.2	+	8	2492	c.2242G>T	c.(2242-2244)Gag>Tag	p.E748*	ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E479*|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E616*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	748					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGCCTACCTGAGCAGGAACA	0.522000													4	23					0.00024832	0.000279133	0.009096	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68264919	68264919	+	Missense_Mutation	SNP	G	G	A			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr14:68264919G>A	ENST00000347230.4	-	11	2198	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A687V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	687					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTGAGGAAGGCCCCTATTGC	0.483000													9	55					0	0	0.047766	0	0
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													2	4	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ctc>cGTCGCCtc	p.29_30insRR	PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	29					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													7	5	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)tcgfs	p.S556fs	CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312													2	4	---	---	---	---					
SPRY2	10253	broad.mit.edu	37	13	80911047	80911048	+	In_Frame_Ins	INS	-	-	TTT			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr13:80911047_80911048insTTT	ENST00000377102.1	-	2	1770_1771	c.793_794insAAA	c.(793-795)ttt>AAAttt	p.264_265insK	SPRY2_ENST00000377104.3_In_Frame_Ins_p.264_265insK|SPRY2_ENST00000540649.1_In_Frame_Ins_p.264_265insK			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	264	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		ACACCATAAACAAGGCAAAAAG	0.490													10	60	---	---	---	---					
IRX3	79191	broad.mit.edu	37	16	54319061	54319062	+	Frame_Shift_Ins	INS	-	-	C	rs140590187		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chr16:54319061_54319062insC	ENST00000329734.3	-	2	1443_1444	c.731_732insG	c.(730-732)gctfs	p.A244fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	244	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						cgtcagccaggccctcgccccc	0.678													4	9	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	c63facd4-bde2-440b-b37a-a5a67576d597	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													7	141	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407165	89407165	+	RNA	DEL	T	T	-	rs112016970		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CATCAATGACTTTTTTTTTTT	0.303													4	6	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)tcgfs	p.S556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312													2	4	---	---	---	---					
SPRY2	10253	broad.mit.edu	37	13	80911047	80911048	+	In_Frame_Ins	INS	-	-	TTT			TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr13:80911047_80911048insTTT	ENST00000377102.1	-	2	1770_1771	c.793_794insAAA	c.(793-795)ttt>AAAttt	p.264_265insK	SPRY2_ENST00000377104.3_In_Frame_Ins_p.264_265insK|SPRY2_ENST00000540649.1_In_Frame_Ins_p.264_265insK			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	264	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		ACACCATAAACAAGGCAAAAAG	0.490													10	60	---	---	---	---					
IRX3	79191	broad.mit.edu	37	16	54319061	54319062	+	Frame_Shift_Ins	INS	-	-	C	rs140590187		TCGA-93-7348-01A-21D-2036-08	TCGA-93-7348-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36be8d78-9b00-4ca6-8cf6-ad665d32ccfe	433ea257-d724-405e-b6ea-066a4ca443d1	g.chr16:54319061_54319062insC	ENST00000329734.3	-	2	1443_1444	c.731_732insG	c.(730-732)gctfs	p.A244fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	244	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						cgtcagccaggccctcgccccc	0.678													4	9	---	---	---	---					
