Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GJC2	57165	broad.mit.edu	37	1	228345673	228345673	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:228345673G>A	uc021pkg.1	+	0	214	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	GJC2_uc001hsk.3_Missense_Mutation_p.A72T	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	72					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGACGCCTTCGCGCCCCTGTC	0.657000													6	28					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408850	70408850	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:70408850C>T	uc002sgh.3	-	2	596	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	90										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCGAGCTCCACAAAGCATCGG	0.522000													8	75					0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66770148	66770148	+	Splice_Site	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr16:66770148C>T	uc002eqb.1	-	5	561	c.530_splice	c.e5-1	p.F177_splice	DYNC1LI2_uc010vis.1_Splice_Site_p.V100_splice|DYNC1LI2_uc010vit.2_Splice_Site_p.F177_splice|DYNC1LI2_uc010viu.2_Splice_Site_p.F138_splice	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	177					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTCACAACTGGGGGAAAA	0.393000													17	4					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94924639	94924639	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:94924639G>A	uc001pfk.1	-	2	493	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	SESN3_uc010rug.1_Missense_Mutation_p.R13W|SESN3_uc001pfl.3_Missense_Mutation_p.R91W	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	91					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		AACTGGCTCCGCAAGAAAGAC	0.443000													50	78					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14204548	14204548	+	Silent	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:14204548C>A	uc002myc.3	-	8	1022	c.822G>T	c.(820-822)ctG>ctT	p.L274L	PRKACA_uc002myb.3_Silent_p.L266L	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	274	Protein kinase.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTACCTGCAGGAGGTTCC	0.542000													3	66					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124241431	124241431	+	Missense_Mutation	SNP	T	T	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:124241431T>G	uc001ufr.3	+	18	2611	c.2363T>G	c.(2362-2364)tTg>tGg	p.L788W		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	788					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TATGGCGTCTTGCTACTGCTC	0.552000													9	127					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713803	42713803	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:42713803G>A	uc003osl.3	-	0	82	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_003192	NP_003183	Q15814	TBCC_HUMAN	Homo sapiens tubulin folding cofactor C (TBCC), mRNA.	3					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	GTPase activity|chaperone binding	p.S3S(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617000													19	44					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:46279833G>A	uc002xtk.3	+	19	4020	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_uc002xtl.3_Silent_p.Q1249Q|NCOA3_uc002xtn.3_Silent_p.Q1252Q|NCOA3_uc010ght.2_Silent_p.Q1244Q|NCOA3_uc002xtm.3_Silent_p.Q1248Q|NCOA3_uc010zyc.2_Silent_p.Q1048Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													3	42					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160921900	160921900	+	RNA	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:160921900A>G	uc003qtj.2	-	1		c.239T>C			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GACAGTGGTGAAGTATGTGCC	0.458000													3	271					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595833	52595833	+	Splice_Site	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:52595833C>A	uc001jjj.3	-	6	792	c.604_splice	c.e6+1	p.G202_splice	A1CF_uc010qho.2_Splice_Site_p.G210_splice|A1CF_uc010qhn.2_Splice_Site_p.G210_splice|A1CF_uc009xov.3_Splice_Site_p.G202_splice|A1CF_uc001jji.3_Splice_Site_p.G202_splice|A1CF_uc001jjh.3_Splice_Site_p.G210_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	202	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGATTGCTAACCTGGTAGCAG	0.463000													29	49					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748639	79748639	+	Silent	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:79748639C>G	uc002bew.1	+	1	225	c.150C>G	c.(148-150)ctC>ctG	p.L50L	KIAA1024_uc010unk.1_Silent_p.L50L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	50						integral to membrane		p.V49L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGTGTGCTCTTCTACACAG	0.458000													49	60					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082718	114082718	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:114082718C>T	uc004epu.1	+	4	1230	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	HTR2C_uc010nqc.1_Missense_Mutation_p.R168W|HTR2C_uc004epv.1_Intron	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	168					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.R168Q(1)|p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTCAATTCGCGGACTAAGGC	0.403000													39	12					0	0	1	0	0
DNM1P34	729809	broad.mit.edu	37	15	75594869	75594869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:75594869C>T	uc002azx.1	-	0	438	c.188G>A	c.(187-189)tGg>tAg	p.W63*						RecName: Full=Putative GED domain-containing protein DNM1P34; AltName: Full=DNM1 pseudogene 34;																		CATGAGGTCCCACACGGTCTT	0.587000													5	35					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													6	12					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118173	118173	+	RNA	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrGL000205.1:118173A>G	uc002kgk.4	+	0		c.1551A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGATCCGCCAAGCCATCATA	0.493000													3	14					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25047312	25047312	+	Missense_Mutation	SNP	G	G	A	rs17374285	by1000genomes	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:25047312G>A	uc001rgd.4	-	2	703	c.176C>T	c.(175-177)aCg>aTg	p.T59M	BCAT1_uc001rgc.3_Missense_Mutation_p.T58M|BCAT1_uc010six.2_Missense_Mutation_p.T71M|BCAT1_uc010siy.2_Missense_Mutation_p.T59M|BCAT1_uc001rge.4_Missense_Mutation_p.T35M	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	59			T -> M (in dbSNP:rs17374285).		G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CCACTCCACCGTCAGCATATG	0.463000													10	14					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181633	3181633	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:3181633G>A	uc002fvg.3	-	0	636	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	199					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GTTGGGTGCTGGAGCAGGAGA	0.552000													21	68					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35745662	35745662	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:35745662T>A	uc002hns.3	+	4	616	c.566T>A	c.(565-567)aTt>aAt	p.I189N	ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Intron	NM_173625	NP_775896	Q8N4C9	CQ078_HUMAN	Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA.	189						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AAAATTCTGATTGCTGTCACC	0.398000													13	12					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538806	63538806	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:63538806C>G	uc011kdm.2	+	3	1558	c.1379C>G	c.(1378-1380)aCc>aGc	p.T460S		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TGTGGCAAAACCTTTACCTGC	0.428000													3	9					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696555	169696555	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:169696555T>C	uc001ggm.4	-	9	1737	c.1580A>G	c.(1579-1581)aAt>aGt	p.N527S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	527	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGCAGAGCCATTGAGCGTCCA	0.552000													6	69					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51132328	51132328	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:51132328G>A	uc001wyh.1	-	1	442	c.104C>T	c.(103-105)cCt>cTt	p.P35L	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	35					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GATGAATGAAGGCATAAGATC	0.358000													5	16					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117561	117561	+	RNA	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrGL000205.1:117561C>T	uc002kgk.4	+	0		c.939C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCATCCCGTCCGCAGCCGTGG	0.617000													4	19					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:91967356T>A	uc001doe.3	+	1	248	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_uc001dof.3_Nonsense_Mutation_p.L28*|CDC7_uc010osw.2_Nonsense_Mutation_p.L28*|CDC7_uc009wdc.3_Nonsense_Mutation_p.L28*	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	28					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000													3	60					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981761	70981761	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:70981761G>A	uc003xym.3	-	1	537	c.335C>T	c.(334-336)cCg>cTg	p.P112L		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGAAGGGCGGCACTTCCCT	0.627000													11	8					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	438989	438989	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:438989C>T	uc002loq.4	-	2	581	c.581G>A	c.(580-582)cGg>cAg	p.R194Q		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	194	PID.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATCCCCGGACGCCAGG	0.677000													9	12					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11447929	11447929	+	Silent	SNP	G	G	A	rs151261006		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:11447929G>A	uc002mqx.3	-	1	408	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	49					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TGACGAAGGCGGGAGTGAAGG	0.527000													22	294					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25572675G>A	uc002kwg.2	-	8	1747	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_uc010xbn.1_Missense_Mutation_p.R399W	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527000													49	66					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1677528	1677528	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:1677528A>G	uc002qxa.3	-	8	969	c.905T>C	c.(904-906)cTg>cCg	p.L302P	PXDN_uc002qxb.1_Missense_Mutation_p.L302P|PXDN_uc002qxc.1_Missense_Mutation_p.L119P	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	302	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGATCATCAGGGTCCCATC	0.502000													3	137					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48266917	48266917	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:48266917C>T	uc003toq.2	+	5	551	c.527C>T	c.(526-528)cCt>cTt	p.P176L	ABCA13_uc003top.2_Missense_Mutation_p.P176L|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	176					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATCAGCAGCCTCATATCTGG	0.433000													14	103					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:7577566T>C	uc002gim.2	-	6	909	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_uc002gig.1_Missense_Mutation_p.N239D|TP53_uc002gih.3_Missense_Mutation_p.N239D|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.N107D|TP53_uc010cnf.1_Missense_Mutation_p.N107D|TP53_uc002gii.1_Missense_Mutation_p.N107D|TP53_uc010cni.1_Missense_Mutation_p.N239D|TP53_uc010cnh.1_Missense_Mutation_p.N239D|TP53_uc002gij.2_Missense_Mutation_p.N239D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.N146D|TP53_uc002gio.2_Missense_Mutation_p.N107D|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(66)|p.C238Y(57)|p.C238F(36)|p.N239fs*25(25)|p.N239S(22)|p.C238S(19)|p.C238R(14)|p.N239Y(12)|p.N239fs*1(8)|p.0?(8)|p.N239K(7)|p.N239_C242delNSSC(6)|p.M237_N239delMCN(6)|p.?(5)|p.N239fs*8(4)|p.C238*(4)|p.N239T(4)|p.N239_S240delNS(4)|p.N239_S240insX(2)|p.N239fs*26(2)|p.Y236_M243delYMCNSSCM(2)|p.N239fs*6(2)|p.N239fs*4(2)|p.C238_N239insX(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238G(2)|p.C238fs*21(2)|p.N239*(2)|p.H233_C242del10(2)|p.C238del(2)|p.N239_C242del(2)|p.N146D(1)|p.N146fs*1(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.N239fs*?(1)|p.C238fs*9(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.N239_C242>S(1)|p.N239_S240insN(1)|p.M237_C238insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGAACTGTTACACATGTAG	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			37	43					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820867	55820867	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:55820867C>G	uc010spm.2	+	0	830	c.830C>G	c.(829-831)tCt>tGt	p.S277C		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCAATACCTCTGTCGCTCCT	0.378000													22	29					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167266417	167266417	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:167266417A>T	uc002udu.2	-	23	3870	c.3740T>A	c.(3739-3741)gTg>gAg	p.V1247E	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1247					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCTTGTTACCACATCAAAGAT	0.338000													4	2					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289690	62289690	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:62289690T>A	uc001ntl.3	-	4	12499	c.12199A>T	c.(12199-12201)Aaa>Taa	p.K4067*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4067					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCTGAATTTGGGCATTTTC	0.493000													31	265					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	407863	407863	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:407863G>A	uc001lpg.3	-	3	588	c.435C>T	c.(433-435)aaC>aaT	p.N145N	SIGIRR_uc001lpd.2_Silent_p.N145N|SIGIRR_uc001lpf.2_Silent_p.N145N|SIGIRR_uc001lpe.1_Silent_p.N145N			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	145					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGCAGCACGTTGAGACGGC	0.687000													19	120					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249545	71249545	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:71249545C>T	uc001oqr.1	+	0	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	148	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607000													6	442					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371147	240371147	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:240371147C>A	uc010pye.2	+	5	3272	c.3047C>A	c.(3046-3048)cCc>cAc	p.P1016H	FMN2_uc010pyd.2_Missense_Mutation_p.P1012H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1012	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCCTCCCCCTCTTCCC	0.741000													3	30					0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:21319343C>T	uc021tss.1	+	2	1059	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ18_uc002gyv.1_Missense_Mutation_p.A230V|KCNJ18_uc021tst.1_Missense_Mutation_p.A230V	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	230						integral to membrane	inward rectifier potassium channel activity										CATGTGCGCGCGCAGCTCATC	0.637000													4	64					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2525	2525	+	RNA	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrGL000237.1:2525C>T	uc011mgu.1	-	0		c.162G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctcaggccaccctcctaacac	0.637000													5	38					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25583091	25583091	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25583091G>T	uc002kwg.2	-	6	1349	c.890C>A	c.(889-891)cCc>cAc	p.P297H	CDH2_uc010xbn.1_Missense_Mutation_p.P266H	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	297	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGGCATTGGGATCGTCAGC	0.458000													4	84					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	53010374	53010374	+	Silent	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:53010374A>G	uc003pbp.3	-	1	266	c.57T>C	c.(55-57)aaT>aaC	p.N19N	GCM1_uc010jzr.2_Silent_p.N19N	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	19						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTTTCACATCATTAATATCCC	0.423000													3	112					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420878	105420878	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:105420878G>T	uc010axc.1	-	6	1030	c.910C>A	c.(910-912)Ctc>Atc	p.L304I	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.L204I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	304						nucleus		p.L304I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCGTGAGCTGGGCCTCT	0.652000													3	13					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945119	4945119	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:4945119C>A	uc010qyr.2	-	0	451	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTAAGCACTGAGCTTAGC	0.532000													34	35					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93467763	93467763	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:93467763G>A	uc002bsp.3	+	2	850	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CHD2_uc002bsm.2_Missense_Mutation_p.R92Q|CHD2_uc002bsn.3_Missense_Mutation_p.R92Q|CHD2_uc002bso.1_Missense_Mutation_p.R92Q|CHD2_uc010urb.2_Missense_Mutation_p.R105Q	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	92					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGGAACGGATAGCTGAT	0.478000													3	74					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152037459	152037459	+	Silent	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:152037459A>G	uc004fgt.1	+	8	1182	c.921A>G	c.(919-921)ctA>ctG	p.L307L	NSDHL_uc004fgs.1_Silent_p.L307L	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	307					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCCTCCTGCTATCCCTGCTGG	0.582000													38	5					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218673380	218673380	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:218673380C>T	uc002vgt.2	-	30	5374	c.4976G>A	c.(4975-4977)cGc>cAc	p.R1659H	TNS1_uc002vgr.2_Missense_Mutation_p.R1645H|TNS1_uc002vgs.2_Missense_Mutation_p.R1638H|TNS1_uc002vgq.2_Missense_Mutation_p.R159H	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1659						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGTAGTGGCGTCTGAAAAA	0.502000													21	105					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905901	129905901	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:129905901C>T	uc001lke.3	-	12	4398	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q	MKI67_uc001lkf.3_Silent_p.Q1041Q|MKI67_uc009yav.1_Silent_p.Q976Q|MKI67_uc009yaw.1_Silent_p.Q551Q	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1401	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCTCCTTCTGTACGTCCC	0.493000													4	205					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538777	63538777	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:63538777G>A	uc011kdm.2	+	3	1529	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CTGGAGAGAAGCCCTACAAAT	0.408000													3	10					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110950	81110950	+	Silent	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:81110950G>T	uc001szg.2	+	0	243	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	36					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCGCGAGTGGCTGCCTTCG	0.612000													10	13					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538501	152538501	+	Nonsense_Mutation	SNP	G	G	A	rs140473829		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:152538501G>A	uc021oyz.1	-	0	184	c.184C>T	c.(184-186)Cga>Tga	p.R62*	LCE3E_uc001faa.3_Nonsense_Mutation_p.R62*	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	62					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCGGCATCGGTGGTGGCGC	0.682000													6	62					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50162974	50162974	+	Silent	SNP	G	G	A	rs149842990	byFrequency	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:50162974G>A	uc002poy.2	-	6	2234	c.1215C>T	c.(1213-1215)tcC>tcT	p.S405S	IRF3_uc021uxp.1_Silent_p.S259S|IRF3_uc021uxq.1_Silent_p.S259S|IRF3_uc002pot.2_Silent_p.S278S|IRF3_uc021uxr.1_Silent_p.S132S|IRF3_uc021uxs.1_Silent_p.S132S|IRF3_uc002pow.3_Nonsense_Mutation_p.R411*|IRF3_uc021uxo.1_Silent_p.S370S|IRF3_uc002pou.3_Silent_p.S405S|IRF3_uc010end.2_Silent_p.S405S|Mir_324_uc021uxt.1_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	405					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTACTGGTCGGAGGTGAGGG	0.617000													34	50					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37622732	37622732	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr22:37622732C>T	uc003arc.3	-	5	677	c.560G>A	c.(559-561)cGc>cAc	p.R187H		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	187					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCAGGCGCGCTTCTGCTG	0.632000													7	15					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:35871289C>A	uc003jjs.3	+	3	600	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_uc011coo.2_Missense_Mutation_p.Q171K|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	171	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTTACCGCCAGGAAAAGGA	0.348000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						5	44					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890301	139890301	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:139890301G>A	uc003yvd.3	-	2	797	c.350C>T	c.(349-351)aCg>aTg	p.T117M		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	117	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGCGTCTCCCGTGTTGGTGTT	0.706000										HNSCC(7;0.00092)			5	4					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:121434123C>T	uc001tzg.3	+	4	1037	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.G338G|HNF1A_uc001tzf.3_Silent_p.G338G|HNF1A_uc010szn.2_Silent_p.G338G|HNF1A_uc021rfa.1_Silent_p.G338G|HNF1A_uc021rfb.1_Silent_p.G210G|HNF1A_uc021rfc.1_Intron	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622000									Hepatic Adenoma, Familial Clustering of				29	118					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040359	24040359	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:24040359G>A	uc001wkq.2	-	5	2499	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	JPH4_uc010tnr.1_Silent_p.D192D|JPH4_uc001wkr.2_Silent_p.D527D	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	527					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGGAACCGTCTCTGGGCC	0.667000													72	173					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr3:33602361delT	uc021wvc.1	-	27	3104	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_uc003cfs.3_Frame_Shift_Del_p.M164fs|CLASP2_uc021wva.1_Frame_Shift_Del_p.M39fs|CLASP2_uc021wvb.1_Frame_Shift_Del_p.M744fs|CLASP2_uc011axt.1_Frame_Shift_Del_p.M557fs	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													7	155	---	---	---	---					
SOX1	6656	broad.mit.edu	37	13	112723111	112723112	+	In_Frame_Ins	INS	-	GGGCGT	GGGCGT	rs137969745	by1000genomes	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr13:112723111_112723112insGGGCGT	uc001vsb.1	+	0	1199_1200	c.1139_1140insGGGCGT	c.(1138-1140)gcg>gcGGGCGTg	p.382_383insGV		NM_005986	NP_005977	O00570	SOX1_HUMAN	Homo sapiens SRY (sex determining region Y)-box 1 (SOX1), mRNA.	382					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GGCGCGGGCGCGGGCGTGAACG	0.792													2	4	---	---	---	---					
LOC644189	644189	broad.mit.edu	37	19	36913799	36913800	+	Splice_Site	INS	-	A	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:36913799_36913800insA	uc002odz.1	+	1		c.1724_splice	c.e1+1							Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TCTTTGTCATTAAAAAAAAAAA	0.450													3	4	---	---	---	---					
DLGAP4	22839	broad.mit.edu	37	20	35064517	35064519	+	In_Frame_Del	DEL	CGG	-	-			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:35064517_35064519delCGG	uc002xff.3	+	3	1440_1442	c.1005_1007delCGG	c.(1003-1008)cccggc>ccc	p.G339del	DLGAP4_uc010zvp.2_In_Frame_Del_p.G339del	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	339					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCAGGTGCCCGGCGGCGGCGGC	0.704													3	6	---	---	---	---					
