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
PINK1	65018	broad.mit.edu	37	1	20964582	20964582	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:20964582C>A	ENST00000321556.4	+	2	729	c.635C>A	c.(634-636)cCt>cAt	p.P212H		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	212	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGGGGGCCCCTGCCTTCCCC	0.577													4	52	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67147695	67147695	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:67147695C>A	ENST00000371037.4	+	15	1035	c.958C>A	c.(958-960)Ccg>Acg	p.P320T	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P324T|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	320	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGATACATCCCCGGAACATGT	0.512													8	183	---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	ENST00000326665.5	-	14	2706	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	830	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGGATCTCCCTTTTTTCT	0.572													13	130	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85498463	85498463	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:85498463C>A	ENST00000370587.1	-	7	1024	c.648G>T	c.(646-648)gtG>gtT	p.V216V	MCOLN3_ENST00000370589.2_Silent_p.V216V|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.V160V			Q8TDD5	MCLN3_HUMAN	mucolipin 3	216						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ACTGAAGCTCCACTGTTAGGA	0.443													7	203	---	---	---	---
PALMD	54873	broad.mit.edu	37	1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	ENST00000263174.4	+	7	1411	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W	PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	346					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488													15	27	---	---	---	---
PLEKHO1	51177	broad.mit.edu	37	1	150131388	150131388	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150131388C>A	ENST00000369124.4	+	6	1178	c.900C>A	c.(898-900)ccC>ccA	p.P300P	PLEKHO1_ENST00000025469.6_Silent_p.P266P|PLEKHO1_ENST00000369126.1_Silent_p.P117P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	300	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCCTCCCCAACCCGGGGC	0.662													5	69	---	---	---	---
PRPF3	9129	broad.mit.edu	37	1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	6	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423													7	128	---	---	---	---
RAB13	5872	broad.mit.edu	37	1	153954901	153954901	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:153954901C>A	ENST00000368575.3	-	7	615	c.500G>T	c.(499-501)cGg>cTg	p.R167L	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	167					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity	p.R167L(2)		breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGATGTCCCGGGCCAGGGA	0.507													6	216	---	---	---	---
ANGPTL1	9068	broad.mit.edu	37	1	178834872	178834872	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:178834872G>T	ENST00000234816.2	-	3	487	c.40C>A	c.(40-42)Cta>Ata	p.L14I	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.L14I	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	14						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCCACTAGTAGGAAGAATAGC	0.378													5	64	---	---	---	---
TNNI1	7135	broad.mit.edu	37	1	201382239	201382239	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:201382239C>A	ENST00000361379.4	-	6	292	c.200G>T	c.(199-201)cGg>cTg	p.R67L	TNNI1_ENST00000336092.4_Missense_Mutation_p.R67L|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67L|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	67			R -> W (in dbSNP:rs2296695).		muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	p.R67L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GTGCAGCTCCCGGCACAGGTC	0.592													7	264	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27165567	27165567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:27165567C>A	ENST00000288699.6	+	11	1547	c.1389C>A	c.(1387-1389)ccC>ccA	p.P463P	DPYSL5_ENST00000401478.1_Silent_p.P463P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	463					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCTGTCCCCTGAGGTCCT	0.647											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	82	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74481805	74481805	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:74481805C>A	ENST00000394019.2	-	14	1451	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	SLC4A5_ENST00000358683.4_Missense_Mutation_p.G288W|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G352W|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G352W|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G352W|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G288W	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	352						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G352W(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTGCTCTCCCAGAAGGTCCC	0.428													7	248	---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AAGGACTTCCCACACTCATTA	0.443													7	162	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976433	131976433	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:131976433C>A	ENST00000356920.5	+	1	552	c.458C>A	c.(457-459)cCc>cAc	p.P153H	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.P153H|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	153							ATP binding										GGTAAAGTCCCCAGAAAGGAT	0.577													6	153	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413531	179413531	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179413531G>T	ENST00000589042.1	-	339	93046	c.92822C>A	c.(92821-92823)gCc>gAc	p.A30941D	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29300D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28373D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A22001D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22068D|TTN_ENST00000460472.2_Missense_Mutation_p.A21876D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29300	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGAATACTGGCCCCAGCTCT	0.468													4	69	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179647700	179647700	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179647700C>A	ENST00000589042.1	-	18	3157	c.2933G>T	c.(2932-2934)aGg>aTg	p.R978M	TTN_ENST00000360870.5_Missense_Mutation_p.R978M|TTN_ENST00000591111.1_Missense_Mutation_p.R978M|TTN_ENST00000342992.6_Missense_Mutation_p.R978M|TTN_ENST00000359218.5_Missense_Mutation_p.R932M|TTN_ENST00000342175.6_Missense_Mutation_p.R932M|TTN_ENST00000460472.2_Missense_Mutation_p.R932M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	978	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGTCTTCCCTGTACCATGT	0.473													5	82	---	---	---	---
NABP1	64859	broad.mit.edu	37	2	192549021	192549021	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:192549021G>T	ENST00000410026.2	+	5	459	c.204G>T	c.(202-204)gtG>gtT	p.V68V	NABP1_ENST00000409510.1_Splice_Site_p.V68V|NABP1_ENST00000425611.2_Splice_Site_p.V148V	NM_001254736.1	NP_001241665.1			nucleic acid binding protein 1																		TTGGACCAGTGGGTAAGATTT	0.333													6	100	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216230308	216230308	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:216230308C>A	ENST00000354785.4	-	43	7433	c.7064G>T	c.(7063-7065)tGg>tTg	p.W2355L	FN1_ENST00000345488.5_Missense_Mutation_p.W2062L|FN1_ENST00000357867.4_Missense_Mutation_p.W2054L|FN1_ENST00000446046.1_Missense_Mutation_p.W2208L|FN1_ENST00000443816.1_Missense_Mutation_p.W2143L|FN1_ENST00000323926.6_Missense_Mutation_p.W2324L|FN1_ENST00000356005.4_Missense_Mutation_p.W2174L|FN1_ENST00000432072.2_Missense_Mutation_p.W2145L|FN1_ENST00000336916.4_Missense_Mutation_p.W2233L|FN1_ENST00000359671.1_Missense_Mutation_p.W2264L|FN1_ENST00000346544.3_Missense_Mutation_p.W2089L|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000421182.1_Missense_Mutation_p.W2118L			P02751	FINC_HUMAN	fibronectin 1	2264					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACGGTCCCACTTCTCTCC	0.458													6	112	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	401998	401998	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:401998C>A	ENST00000256509.2	+	12	1839	c.1197C>A	c.(1195-1197)ccC>ccA	p.P399P	CHL1_ENST00000397491.2_Silent_p.P383P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	383	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P399P(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCTTCCCCAGGGAAATCA	0.373													6	117	---	---	---	---
OXTR	5021	broad.mit.edu	37	3	8794680	8794680	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:8794680G>T	ENST00000316793.3	-	4	1777	c.1153C>A	c.(1153-1155)Cag>Aag	p.Q385K	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	385					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GTGGATGGCTGGGAGCAGCTC	0.622													4	42	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31703609	31703609	+	Splice_Site	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:31703609C>A	ENST00000396556.2	-	12	2373		c.e12-1		OSBPL10_ENST00000438237.2_Splice_Site	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10						lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AGCCATCGCCCTGCAAGAGAA	0.488													7	89	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	547					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTGAGCTGGCCCCGGGACA	0.458													5	138	---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50150853	50150853	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:50150853G>T	ENST00000347869.3	+	18	1668	c.1493G>T	c.(1492-1494)tGg>tTg	p.W498L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	498	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTTACTGGGATGGGGAA	0.448													5	74	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78656036	78656036	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:78656036C>A	ENST00000436010.2	-	27	5471	c.4474G>T	c.(4474-4476)Ggg>Tgg	p.G1492W	ROBO1_ENST00000495273.1_Missense_Mutation_p.G1486W|ROBO1_ENST00000464233.1_Missense_Mutation_p.G1531W|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1431W			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1531					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTCTCTCCCCTTGTAACTG	0.483													12	522	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132165395	132165395	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	ENST00000260818.6	+	3	392		c.e3+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368													17	28	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155241768	155241768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:155241768C>A	ENST00000460012.1	-	11	1655	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	PLCH1_ENST00000414191.1_Missense_Mutation_p.G433V|PLCH1_ENST00000447496.2_Missense_Mutation_p.G451V|PLCH1_ENST00000334686.6_Missense_Mutation_p.G433V|PLCH1_ENST00000340059.7_Missense_Mutation_p.G451V|PLCH1_ENST00000494598.1_Missense_Mutation_p.G451V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	451	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCATCATCCCCAAGGTGATA	0.413													7	203	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195491914	195491914	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:195491914C>A	ENST00000463781.3	-	10	14337	c.13878G>T	c.(13876-13878)tgG>tgT	p.W4626C	MUC4_ENST00000349607.4_Missense_Mutation_p.W339C|MUC4_ENST00000346145.4_Missense_Mutation_p.W390C|MUC4_ENST00000475231.1_Missense_Mutation_p.W4574C	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1383					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)		GAAACTCTCCCCAGGGCCCGT	0.637													5	55	---	---	---	---
EVC	2121	broad.mit.edu	37	4	5806552	5806552	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:5806552C>A	ENST00000382674.2	+	17	2729	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	EVC_ENST00000264956.6_Missense_Mutation_p.Q849K			P57679	EVC_HUMAN	Ellis van Creveld syndrome	849					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGAGACCTCCCAGGCGGTCCA	0.567													5	86	---	---	---	---
FBXL5	26234	broad.mit.edu	37	4	15640193	15640193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:15640193C>A	ENST00000341285.3	-	4	645	c.521G>T	c.(520-522)tGg>tTg	p.W174L	FBXL5_ENST00000382358.4_Missense_Mutation_p.W48L|FBXL5_ENST00000412094.2_Missense_Mutation_p.W157L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	174					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCATGATTCCATAGGCTAAG	0.338													4	49	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20255579	20255579	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	47	LRRNT.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCGCTGCGCAGCGTGCCCA	0.667													8	129	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55979609	55979609	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:55979609G>T	ENST00000263923.4	-	7	1133	c.838C>A	c.(838-840)Cag>Aag	p.Q280K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	280	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGACTGGGTTTTTAGG	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	78	---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	ENST00000307142.4	+	5	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	765						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448													22	56	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412062	126412062	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:126412062C>A	ENST00000394329.3	+	17	14098	c.14085C>A	c.(14083-14085)ccC>ccA	p.P4695P	FAT4_ENST00000335110.5_Silent_p.P2936P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCAACTCCCAACCCTCTGT	0.498													7	127	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13923454	13923454	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:13923454C>A	ENST00000265104.4	-	4	477	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G125W(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACACATACCCCAGTAAGAGCC	0.468									Kartagener syndrome				8	220	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:52362978A>C	ENST00000296585.5	+	16	2117	c.1974A>C	c.(1972-1974)gaA>gaC	p.E658D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	658					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGCTATAGAAGCTTCATTCA	0.353													3	38	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139215340	139215340	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:139215340G>T	ENST00000274710.3	+	9	1597	c.1392G>T	c.(1390-1392)ctG>ctT	p.L464L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	464					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAAAGCTGGAATGGGCCA	0.532													9	328	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857734	140857734	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:140857734G>T	ENST00000308177.3	+	1	2155	c.2051G>T	c.(2050-2052)cGg>cTg	p.R684L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCCCCCGGGAGCAGAAA	0.507											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	229	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29275320	29275320	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:29275320C>A	ENST00000377160.2	+	1	918	c.854C>A	c.(853-855)cCa>cAa	p.P285Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P285Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACACTCAATCCAGTCATTTAT	0.443													6	126	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31605230	31605230	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:31605230C>A	ENST00000376033.2	+	31	6575	c.6341C>A	c.(6340-6342)cCa>cAa	p.P2114Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P2114Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2114						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TAGGCCTCCCCACCAGATGCC	0.612													8	246	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTGGATGTCCCTTCTTCTTTG	0.413													7	201	---	---	---	---
MEP1A	4224	broad.mit.edu	37	6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	ENST00000230588.4	+	8	635	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	209	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443													5	85	---	---	---	---
DST	667	broad.mit.edu	37	6	56468037	56468037	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:56468037G>A	ENST00000370754.5	-	41	11023	c.11024C>T	c.(11023-11025)aCg>aTg	p.T3675M	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T3497M|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.T3497M			Q03001	DYST_HUMAN	dystonin	3497					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCTGTTTCGTTCTTTCTGA	0.388													14	13	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144747493	144747493	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:144747493G>T	ENST00000367545.3	+	6	476	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	159	Actin-binding.|CH 2.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGCTCAGCTGGGTGCGTCAG	0.527													6	94	---	---	---	---
PHF10	55274	broad.mit.edu	37	6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	257	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418													14	169	---	---	---	---
SPDYE1	285955	broad.mit.edu	37	7	44040843	44040843	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:44040843C>A	ENST00000258704.3	+	1	356	c.219C>A	c.(217-219)ccC>ccA	p.P73P	RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	73										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GAGTGTCACCCATCCTCCTTG	0.552													4	35	---	---	---	---
SGCE	8910	broad.mit.edu	37	7	94214814	94214814	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:94214814G>T	ENST00000428696.2	-	11	1318	c.1319C>A	c.(1318-1320)cCt>cAt	p.P440H	SGCE_ENST00000437425.2_Silent_p.P396P|SGCE_ENST00000445866.2_Silent_p.P462P|SGCE_ENST00000447873.1_Silent_p.P428P|SGCE_ENST00000265735.7_Silent_p.P437P	NM_001099400.1	NP_001092870.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	0					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TCTTTCTTCAGGGATACCATT	0.363													11	341	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99123537	99123537	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:99123537C>A	ENST00000394170.2	+	6	1125	c.874C>A	c.(874-876)Cag>Aag	p.Q292K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q292K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q292K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAGCGTTCCTCAGGATCCAGA	0.498													6	126	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100463781	100463781	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:100463781C>A	ENST00000354161.3	+	14	2424	c.2299C>A	c.(2299-2301)Cgg>Agg	p.R767R		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	767						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGCCCGGCTCCGGATCTTCCT	0.706													5	89	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107580685	107580685	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:107580685C>A	ENST00000393561.1	-	23	3766	c.3582G>T	c.(3580-3582)tcG>tcT	p.S1194S	LAMB1_ENST00000222399.6_Silent_p.S1170S			P07942	LAMB1_HUMAN	laminin, beta 1	1170	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S1170S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAGACCCCCGAGTACCCTC	0.592													7	111	---	---	---	---
TTC26	79989	broad.mit.edu	37	7	138824682	138824682	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:138824682G>T	ENST00000464848.1	+	4	361	c.281G>T	c.(280-282)tGg>tTg	p.W94L	TTC26_ENST00000430935.1_Missense_Mutation_p.W94L|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.W94L|TTC26_ENST00000343187.4_Missense_Mutation_p.W63L|TTC26_ENST00000478836.2_Missense_Mutation_p.W94L|TTC26_ENST00000495038.1_Missense_Mutation_p.W94L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	94							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCTGAAGTCTGGGTGAACCTA	0.378													5	91	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140223198	140223198	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:140223198G>T	ENST00000275884.6	-	16	2991	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P	DENND2A_ENST00000537639.1_Silent_p.P858P|DENND2A_ENST00000496613.1_Silent_p.P858P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	858										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAAGCTTCCGGGGCAGGATGG	0.597													5	67	---	---	---	---
ZNF862	643641	broad.mit.edu	37	7	149547345	149547345	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:149547345G>T	ENST00000223210.4	+	5	1280	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	345	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCACCCGGGAGGAGTGGGGCA	0.587													4	27	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36767015	36767015	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:36767015C>A	ENST00000399881.3	+	21	2330	c.2293C>A	c.(2293-2295)Cga>Aga	p.R765R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	765						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R765G(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGAGAATGGCGATTTCTCTG	0.378													5	159	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578551	67578551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:67578551C>A	ENST00000310421.4	-	1	901	c.643G>T	c.(643-645)Ggg>Tgg	p.G215W		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	215	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGTCCATCCCCGTCCACATGC	0.522													5	115	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105503275	105503275	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:105503275C>A	ENST00000276654.5	-	7	2314	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	LRP12_ENST00000424843.2_Missense_Mutation_p.G717W|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	736					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CAGCGTAGCCCCTGAGTCATA	0.483													6	88	---	---	---	---
TG	7038	broad.mit.edu	37	8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:133935616T>A	ENST00000220616.4	+	22	4602	c.4562T>A	c.(4561-4563)cTg>cAg	p.L1521Q	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1521	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCAGGCCTGCAATGTGAC	0.577													7	94	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164039	139164039	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:139164039G>T	ENST00000395297.1	-	13	2849	c.2679C>A	c.(2677-2679)acC>acA	p.T893T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	893										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAGAGATCTGGTCCTGGGGT	0.468										HNSCC(54;0.14)			6	164	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	ENST00000451710.3	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493													44	98	---	---	---	---
SPTLC1	10558	broad.mit.edu	37	9	94877638	94877638	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:94877638C>A	ENST00000262554.2	-	1	20	c.15G>T	c.(13-15)acG>acT	p.T5T	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.T5T	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	5						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCCACTGCTCCGTGGCGGTCG	0.657													4	60	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24909324	24909324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:24909324C>A	ENST00000396432.2	-	9	1986	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E287D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	499					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CATCCTGTCCCTCAATATAAT	0.393													5	84	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48426603	48426603	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:48426603G>T	ENST00000224605.2	-	3	1669	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	468					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGGACATGTTGGGGTACACCT	0.587											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	146	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70666556	70666556	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:70666556C>A	ENST00000373585.3	+	2	284	c.177C>A	c.(175-177)ccC>ccA	p.P59P		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	59						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGGATGCTCCCAAGGCCAAAA	0.378													6	97	---	---	---	---
IFIT5	24138	broad.mit.edu	37	10	91177698	91177698	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:91177698C>A	ENST00000371795.4	+	2	955	c.742C>A	c.(742-744)Cag>Aag	p.Q248K	IFIT5_ENST00000416601.1_Missense_Mutation_p.Q200K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	248							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AATATCATCCCAGCCTTACGT	0.413													5	73	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114711014	114711014	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:114711014C>A	ENST00000355995.4	+	2	745	c.238C>A	c.(238-240)Cgg>Agg	p.R80R	TCF7L2_ENST00000538897.1_Silent_p.R80R|TCF7L2_ENST00000534894.1_Silent_p.R80R|TCF7L2_ENST00000352065.5_Silent_p.R80R|TCF7L2_ENST00000349937.2_Silent_p.R80R|TCF7L2_ENST00000543371.1_Silent_p.R80R|TCF7L2_ENST00000369395.1_Silent_p.R80R|TCF7L2_ENST00000536810.1_Silent_p.R80R|TCF7L2_ENST00000369397.4_Silent_p.R80R|TCF7L2_ENST00000355717.4_Silent_p.R80R|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Silent_p.R80R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	80					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGACAAATCCCGGGAAAGTTT	0.746			T	VTI1A	colorectal								3	14	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	ENST00000368642.4	-	9	1351	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567													6	18	---	---	---	---
TRIM68	55128	broad.mit.edu	37	11	4623608	4623608	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:4623608C>A	ENST00000300747.5	-	4	846	c.557G>T	c.(556-558)tGg>tTg	p.W186L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	186					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCAAACTCCCATACAATACT	0.498													4	41	---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	rs17854361		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:46569829T>A	ENST00000458649.2	-	2	520	c.102A>T	c.(100-102)gaA>gaT	p.E34D	AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	34					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGTTTTATCTTCTACCAGCT	0.512													15	427	---	---	---	---
OR5R1	219479	broad.mit.edu	37	11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	ENST00000312253.1	-	1	524	c.525C>G	c.(523-525)aaC>aaG	p.N175K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433													20	98	---	---	---	---
PRG2	5553	broad.mit.edu	37	11	57156158	57156158	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:57156158C>A	ENST00000311862.5	-	4	463	c.390G>T	c.(388-390)agG>agT	p.R130S	PRG2_ENST00000533605.1_Missense_Mutation_p.R119S|PRG2_ENST00000525955.1_Missense_Mutation_p.R130S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTTGCCCCTGTAGCACC	0.473													6	91	---	---	---	---
KRTAP5-10	387273	broad.mit.edu	37	11	71277128	71277128	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:71277128C>A	ENST00000398531.1	+	1	520	c.495C>A	c.(493-495)ccC>ccA	p.P165P	KRTAP5-10_ENST00000376536.4_Silent_p.P117P	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	165	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						gctgcaatccctgctgctgcc	0.632													8	188	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92087998	92087998	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:92087998G>T	ENST00000298047.6	+	1	2737	c.2720G>T	c.(2719-2721)aGg>aTg	p.R907M	FAT3_ENST00000409404.2_Missense_Mutation_p.R907M|FAT3_ENST00000525166.1_Missense_Mutation_p.R757M|FAT3_ENST00000541502.1_Missense_Mutation_p.R907M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	907	Cadherin 8.				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)				ATAGAAGCCAGGGACAAGGCA	0.443										TCGA Ovarian(4;0.039)			7	177	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129772217	129772217	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:129772217G>T	ENST00000358825.5	-	22	3705	c.3474C>A	c.(3472-3474)acC>acA	p.T1158T	PRDM10_ENST00000528746.1_Silent_p.T1115T|PRDM10_ENST00000526082.1_Silent_p.T1072T|PRDM10_ENST00000423662.2_Silent_p.T1059T|PRDM10_ENST00000360871.3_Silent_p.T1154T|PRDM10_ENST00000304538.6_Silent_p.T1021T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTCATGGTTTGGTGATATGCA	0.512													6	152	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129785692	129785692	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:129785692G>T	ENST00000358825.5	-	17	2632	c.2401C>A	c.(2401-2403)Cca>Aca	p.P801T	PRDM10_ENST00000528746.1_Missense_Mutation_p.P771T|PRDM10_ENST00000526082.1_Missense_Mutation_p.P715T|PRDM10_ENST00000423662.2_Missense_Mutation_p.P715T|PRDM10_ENST00000360871.3_Missense_Mutation_p.P797T|PRDM10_ENST00000304538.6_Missense_Mutation_p.P711T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	801					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATGCTCGGTGGGAGCTCTGCT	0.582													7	169	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13717392	13717392	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:13717392C>A	ENST00000609686.1	-	13	2989	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R927Q(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATGACTCCCGTCGGATGAA	0.572													7	241	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53002038	53002038	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53002038C>A	ENST00000305748.3	-	9	1599	c.1565G>T	c.(1564-1566)aGg>aTg	p.R522M	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	522	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGGAGTCCCTGAATTCACT	0.572													6	145	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53666575	53666575	+	Silent	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	ENST00000257934.4	+	6	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_ENST00000552462.1_Silent_p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	480					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522													22	223	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53876702	53876702	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53876702C>A	ENST00000267079.2	-	12	2011	c.1786G>T	c.(1786-1788)Ggg>Tgg	p.G596W	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G629W|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G629W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	596					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGATGAAGCCCACGGAGGGCG	0.677													5	72	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54756634	54756634	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:54756634G>T	ENST00000551809.1	-	1	1637	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	GPR84_ENST00000267015.3_Silent_p.P334P|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	334						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCAGCAAGAAGGGGATGTAGC	0.532													7	154	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57574174	57574174	+	Silent	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	ENST00000243077.3	+	32	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1766					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617													25	224	---	---	---	---
TMTC2	160335	broad.mit.edu	37	12	83359553	83359553	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:83359553C>A	ENST00000548305.1	+	6	2485	c.1899C>A	c.(1897-1899)ccC>ccA	p.P633P	TMTC2_ENST00000321196.3_Intron|TMTC2_ENST00000549919.1_Intron			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	0						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTCCTTTTCCCTCCCCCTTGT	0.448													5	71	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107144510	107144510	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:107144510C>A	ENST00000392842.1	+	17	2288	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H	RFX4_ENST00000357881.4_Missense_Mutation_p.P634H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P531H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	625					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCGGCCCTCCCTCATGACACA	0.537													7	190	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389492	20389492	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:20389492C>A	ENST00000315915.4	+	1	752	c.727C>A	c.(727-729)Cat>Aat	p.H243N		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGGCTTCCCATATTGCAGT	0.403													8	300	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21960728	21960728	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:21960728C>A	ENST00000405508.1	+	8	1229	c.953C>A	c.(952-954)cCt>cAt	p.P318H	TOX4_ENST00000262709.3_Missense_Mutation_p.P318H|TOX4_ENST00000448790.2_Missense_Mutation_p.P295H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	318						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCCACCTCCTATGGCTACT	0.468													7	153	---	---	---	---
MOAP1	64112	broad.mit.edu	37	14	93650448	93650448	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr14:93650448C>A	ENST00000556883.1	-	2	624	c.140G>T	c.(139-141)gGg>gTg	p.G47V	MOAP1_ENST00000298894.4_Missense_Mutation_p.G47V			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	47					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tctgtactcccccaagggagc	0.552													7	141	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28375390	28375390	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:28375390G>T	ENST00000261609.7	-	83	12829	c.12721C>A	c.(12721-12723)Cgg>Agg	p.R4241R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4241					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGACCTGCCGAGGCCTTCGA	0.562													6	223	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43713293	43713293	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43713293C>A	ENST00000263801.3	-	20	4417	c.4165G>T	c.(4165-4167)Ggg>Tgg	p.G1389W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1394W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1394W|TP53BP1_ENST00000382039.3_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1389					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGAGCCTTCCCTCCCTGTCTG	0.567								Other conserved DNA damage response genes					6	120	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43739618	43739618	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43739618G>T	ENST00000263801.3	-	13	3019	c.2767C>A	c.(2767-2769)Cca>Aca	p.P923T	TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P928T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P928T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P928T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	923					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATAAGAGGTGGGGTTGCACCA	0.363								Other conserved DNA damage response genes					6	110	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43814445	43814445	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:43814445C>A	ENST00000382031.1	+	5	1519	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P	MAP1A_ENST00000300231.5_Silent_p.P258P|MAP1A_ENST00000399453.1_Silent_p.P258P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	258	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCCAATCCCACTGAGAAGA	0.537													6	107	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48054506	48054506	+	Silent	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	216	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATTCCAAATGGATAAAAG	0.507													3	79	---	---	---	---
NR2F2	7026	broad.mit.edu	37	15	96880728	96880728	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:96880728C>A	ENST00000394166.3	+	3	2511	c.1122C>A	c.(1120-1122)tcC>tcA	p.S374S	NR2F2_ENST00000421109.2_Silent_p.S241S|NR2F2_ENST00000394171.2_Silent_p.S221S|NR2F2_ENST00000453270.2_Silent_p.S221S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	374	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCACCGTCTCCTCCTCAGTCA	0.512													8	203	---	---	---	---
VIMP	55829	broad.mit.edu	37	15	101816764	101816764	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:101816764G>T	ENST00000398226.3	-	2	225	c.193C>A	c.(193-195)Cga>Aga	p.R65R	VIMP_ENST00000531964.1_Silent_p.R42R|VIMP_ENST00000526049.1_Silent_p.R65R|VIMP_ENST00000537379.1_Silent_p.R65R					VCP-interacting membrane protein																		GCCGCAGCTCGGTCCAGCTGC	0.502													4	50	---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11217672	11217672	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:11217672C>A	ENST00000409790.1	+	21	2572	c.2342C>A	c.(2341-2343)cCc>cAc	p.P781H	CLEC16A_ENST00000409552.3_Missense_Mutation_p.P763H|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	781								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCGTCCAGCCCCCATTCCAAG	0.602													6	89	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48232099	48232099	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:48232099C>A	ENST00000394747.1	-	15	2519	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	ABCC11_ENST00000394748.1_Missense_Mutation_p.G724W|ABCC11_ENST00000353782.5_Missense_Mutation_p.G724W|ABCC11_ENST00000537808.1_Missense_Mutation_p.G724W|ABCC11_ENST00000356608.2_Missense_Mutation_p.G724W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	724	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCATATTTCCCCTTTTTCTGC	0.463													7	98	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	ENST00000300589.2	+	4	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	579	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607													6	35	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66426125	66426125	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:66426125C>A	ENST00000341529.3	+	7	1204	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	CDH5_ENST00000563425.2_Silent_p.P352P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	352	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TGAGCCCTCCCGCGGGAAACA	0.522													6	222	---	---	---	---
FAM65A	79567	broad.mit.edu	37	16	67576897	67576897	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:67576897C>A	ENST00000540839.3	+	14	2488	c.2268C>A	c.(2266-2268)ccC>ccA	p.P756P	FAM65A_ENST00000379312.3_Silent_p.P740P|FAM65A_ENST00000428437.2_Silent_p.P750P|FAM65A_ENST00000422602.2_Silent_p.P756P|FAM65A_ENST00000042381.4_Silent_p.P736P			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	740	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTAGGAAACCCCTCACAAGCC	0.602													8	231	---	---	---	---
TIMM22	29928	broad.mit.edu	37	17	904323	904323	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:904323C>A	ENST00000327158.4	+	4	606	c.580C>A	c.(580-582)Cgg>Agg	p.R194R		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)						transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTATTACCTCCGGTGAGAGTA	0.532													5	163	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33904411	33904411	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:33904411G>T	ENST00000225873.4	-	2	933	c.326C>A	c.(325-327)cCa>cAa	p.P109Q		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	109					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCTGCTTTGGGAGACCAGC	0.438													8	257	---	---	---	---
GJC1	10052	broad.mit.edu	37	17	42882007	42882007	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:42882007G>T	ENST00000426548.1	-	3	1448	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S	GJC1_ENST00000590758.1_Silent_p.S393S|GJC1_ENST00000592524.1_Silent_p.S393S|GJC1_ENST00000330514.4_Silent_p.S393S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	393					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAATCCAGACGGAGGTCTTCC	0.488													6	110	---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48356659	48356659	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr17:48356659C>A	ENST00000300433.3	+	6	580	c.470C>A	c.(469-471)cCg>cAg	p.P157Q	TMEM92_ENST00000507382.1_Missense_Mutation_p.P157Q	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	157						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						ATTGACAACCCGGCCTTCTGA	0.592													5	128	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3135567	3135567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	ENST00000356443.4	-	15	2520	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_ENST00000400569.3_Silent_p.V729V|MYOM1_ENST00000261606.7_Silent_p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	729	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458													14	15	---	---	---	---
TPGS2	25941	broad.mit.edu	37	18	34385449	34385449	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:34385449C>A	ENST00000334295.4	-	4	697	c.270G>T	c.(268-270)ctG>ctT	p.L90L	TPGS2_ENST00000589049.1_Silent_p.L90L|TPGS2_ENST00000587129.1_Silent_p.L90L|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000590842.1_Silent_p.L90L	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	90						cytoplasm|microtubule											CCATGCTTCCCAGTGGAATGA	0.453													6	113	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1046282	1046282	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:1046282G>T	ENST00000263094.6	+	13	1730	c.1499G>T	c.(1498-1500)tGg>tTg	p.W500L	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W362L|ABCA7_ENST00000433129.1_Missense_Mutation_p.W500L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	500					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTACGTGTGGGGCGGCTTC	0.692													8	275	---	---	---	---
STX10	8677	broad.mit.edu	37	19	13260570	13260570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:13260570C>A	ENST00000589083.1	-	2	229	c.177G>T	c.(175-177)tgG>tgT	p.W59C	STX10_ENST00000587230.1_Missense_Mutation_p.W59C|STX10_ENST00000343587.5_Missense_Mutation_p.W59C|STX10_ENST00000242770.5_Missense_Mutation_p.W59C	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	59					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCGAGGTCCCACTCGATGC	0.652											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	58	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16631188	16631188	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:16631188G>T	ENST00000546361.2	-	14	2483	c.2332C>A	c.(2332-2334)Cgc>Agc	p.R778S	C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R789S|CHERP_ENST00000544299.1_5'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	778	Arg-rich.			R -> C (in Ref. 1; AAN77183).	cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GATCTGGAGCGGGAGTAGGAA	0.632													5	151	---	---	---	---
FKBP8	23770	broad.mit.edu	37	19	18644141	18644141	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:18644141C>A	ENST00000608443.1	-	7	1161	c.962G>T	c.(961-963)gGg>gTg	p.G321V	FKBP8_ENST00000597960.3_Missense_Mutation_p.G321V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000222308.4_Missense_Mutation_p.G320V|FKBP8_ENST00000596558.2_Missense_Mutation_p.G320V|FKBP8_ENST00000610101.1_Missense_Mutation_p.G161V|FKBP8_ENST00000453489.2_Missense_Mutation_p.G349V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa						apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACTGTACTCCCCCTGCTGGGC	0.622													4	23	---	---	---	---
ZFP36	7538	broad.mit.edu	37	19	39899014	39899014	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:39899014C>A	ENST00000597629.1	+	2	748	c.674C>A	c.(673-675)cCa>cAa	p.P225Q	ZFP36_ENST00000248673.3_Missense_Mutation_p.P219Q			P26651	TTP_HUMAN	ZFP36 ring finger protein	219					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCAGCTCCCCACCACCACCT	0.697													6	150	---	---	---	---
ARHGEF1	9138	broad.mit.edu	37	19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	ENST00000599846.1	+	29	3032	c.2907A>T	c.(2905-2907)tgA>tgT	p.*969C	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657													9	21	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48646816	48646816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:48646816C>A	ENST00000263274.7	-	11	1317	c.898G>T	c.(898-900)Gag>Tag	p.E300*	LIG1_ENST00000536218.1_Nonsense_Mutation_p.E232*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.E269*	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	300					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GACACCTCCTCGATCTTCTCA	0.597								Nucleotide excision repair (NER)					5	130	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53573193	53573193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53573193C>A	ENST00000601421.1	-	3	1362	c.486G>T	c.(484-486)gaG>gaT	p.E162D	ZNF160_ENST00000418871.1_Missense_Mutation_p.E198D|ZNF160_ENST00000599056.1_Missense_Mutation_p.E198D|ZNF160_ENST00000429604.1_Missense_Mutation_p.E198D			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	198					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTTTCCCCTCACCTTGAA	0.413													6	144	---	---	---	---
PRPF31	26121	broad.mit.edu	37	19	54625942	54625942	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:54625942C>A	ENST00000321030.4	+	5	738	c.389C>A	c.(388-390)cCc>cAc	p.P130H	PRPF31_ENST00000391755.1_Missense_Mutation_p.P130H|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.P130H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	130					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTTGGTCCCCAATGCACTG	0.572													7	199	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	ENST00000358771.4	+	3	796	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G|SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	215	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572													7	103	---	---	---	---
GMEB2	26205	broad.mit.edu	37	20	62229167	62229167	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:62229167C>A	ENST00000266068.1	-	4	882	c.404G>T	c.(403-405)gGg>gTg	p.G135V	GMEB2_ENST00000370069.1_Missense_Mutation_p.G84V|GMEB2_ENST00000370077.1_Missense_Mutation_p.G135V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	135	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGTGGACTTCCCGGCCAGGTG	0.612													5	76	---	---	---	---
SMARCB1	6598	broad.mit.edu	37	22	24129387	24129387	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr22:24129387G>T	ENST00000344921.6	+	1	238	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	SMARCB1_ENST00000407422.3_Missense_Mutation_p.G11W|SMARCB1_ENST00000263121.7_Missense_Mutation_p.G11W|SMARCB1_ENST00000407082.3_Missense_Mutation_p.G11W			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	11					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CAAGACCTTCGGGCAGAAGCC	0.716			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							5	85	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32275670	32275670	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr22:32275670C>A	ENST00000400246.1	+	38	4107	c.3965C>A	c.(3964-3966)tCc>tAc	p.S1322Y	DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1300Y|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1313Y|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P1208T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1322Y|DEPDC5_ENST00000539165.1_Missense_Mutation_p.S139Y|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1291Y|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1222Y			O75140	DEPD5_HUMAN	DEP domain containing 5	1291					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGGCCAGCCTCCTATGCAAGT	0.572													5	57	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071294	73071294	+	RNA	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:73071294C>A	ENST00000429829.1	-	0	1294					NR_001564.2																						GTGGCCTTCCCGCCACTTGAA	0.537													6	145	---	---	---	---
PGK1	5230	broad.mit.edu	37	X	77369512	77369512	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:77369512G>T	ENST00000373316.4	+	4	439		c.e4-1		PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCTCTTCTCAGGGATGTTCTG	0.502													6	130	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134494804	134494804	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:134494804C>A	ENST00000339249.4	+	5	1500	c.1360C>A	c.(1360-1362)Cag>Aag	p.Q454K		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	454					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACTTTGCACCAGAGAACGCA	0.368													5	80	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	ENST00000453279.2	-	11	1677_1678	c.813_814insA	c.(811-816)ctagacfs	p.D272fs	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Frame_Shift_Ins_p.D514fs	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	514	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTAAGTCTAGGTCCTCGG	0.510													102	194	---	---	---	---
