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
MTOR	2475	broad.mit.edu	37	1	11189830	11189830	+	Silent	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:11189830G>C	ENST00000361445.4	-	40	5755	c.5679C>G	c.(5677-5679)tcC>tcG	p.S1893S	MTOR_ENST00000376838.1_Silent_p.S98S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1893	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTCGTGACAAGGAGATGGAAC	0.522													7	15	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228481946	228481946	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr1:228481946C>T	ENST00000570156.2	+	47	12586	c.12512C>T	c.(12511-12513)cCg>cTg	p.P4171L	OBSCN_ENST00000284548.11_Missense_Mutation_p.P3742L|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2589L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P861L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P3742L|OBSCN_ENST00000366707.4_Missense_Mutation_p.P861L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3214	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGGCGGCACCGGTGGAGTGG	0.622													71	92	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233655742	233655742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:233655742G>T	ENST00000373566.3	+	12	1218	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.E150*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.E319*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.E341*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.E313*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	319					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCCTATTCCAGAAGAGCAGGA	0.448													11	20	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234368918	234368918	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr2:234368918C>T	ENST00000264057.2	+	24	2920	c.2908C>T	c.(2908-2910)Ccg>Tcg	p.P970S	DGKD_ENST00000409813.3_Missense_Mutation_p.P926S	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	970					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCCTGCACCCGGAGATGCT	0.617													11	18	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52211329	52211329	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr5:52211329A>T	ENST00000282588.6	+	15	2351	c.1893A>T	c.(1891-1893)aaA>aaT	p.K631N		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	631					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGACACTGAAATTTTTTGGCC	0.423													9	91	---	---	---	---
CD83	9308	broad.mit.edu	37	6	14131839	14131839	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:14131839C>A	ENST00000379153.3	+	3	413	c.242C>A	c.(241-243)tCt>tAt	p.S81Y		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	81	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CAAAATGGTTCTTTCGACGCC	0.547													16	31	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34835110	34835110	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr6:34835110C>T	ENST00000192788.5	+	16	3692	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A1174V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1174										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCACCAGCAGCCAACAGTTCA	0.507													8	65	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678493	100678493	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:100678493A>T	ENST00000306151.4	+	3	3860	c.3796A>T	c.(3796-3798)Acc>Tcc	p.T1266S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1266	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGCTGAAGGTACCAGCTTGCC	0.507													112	311	---	---	---	---
CRYGN	155051	broad.mit.edu	37	7	151135077	151135077	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr7:151135077C>T	ENST00000491928.1	-	2	365	c.275G>A	c.(274-276)aGt>aAt	p.S92N	CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000337323.2_Intron|RP4-555L14.4_ENST00000465549.1_RNA			Q8WXF5	CRGN_HUMAN	crystallin, gamma N	0										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACGGGCCCACTCACCATTCC	0.637													15	9	---	---	---	---
C9orf85	138241	broad.mit.edu	37	9	74587611	74587611	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:74587611G>T	ENST00000334731.2	+	4	517	c.327G>T	c.(325-327)ttG>ttT	p.L109F	C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000377031.3_Intron	NM_182505.3	NP_872311.2	Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	0										kidney(2)|large_intestine(1)|lung(4)	7						TCTTTAGGTTGAATAAAGAAA	0.284													3	52	---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131112789	131112789	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr9:131112789A>G	ENST00000300456.4	+	6	929	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCCCTGGTGTACTATGGATTC	0.617													10	16	---	---	---	---
SIRT1	23411	broad.mit.edu	37	10	69666644	69666644	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr10:69666644T>A	ENST00000212015.6	+	5	1093	c.1040T>A	c.(1039-1041)aTa>aAa	p.I347K	SIRT1_ENST00000432464.1_Missense_Mutation_p.I52K|SIRT1_ENST00000406900.1_Missense_Mutation_p.I44K|SIRT1_ENST00000403579.1_Missense_Mutation_p.I44K	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	347	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCCAGAACATAGACACGCTG	0.388													13	21	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371422	55371422	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:55371422A>T	ENST00000302231.4	-	1	452	c.428T>A	c.(427-429)aTt>aAt	p.I143N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGCAAGAACAATCAGGATGAT	0.453													4	52	---	---	---	---
OR5AN1	390195	broad.mit.edu	37	11	59132469	59132469	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr11:59132469T>G	ENST00000313940.2	+	1	585	c.538T>G	c.(538-540)Tgt>Ggt	p.C180G		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ACATTTCTTCTGTGACATGCC	0.438													4	180	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14589075	14589075	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589075G>A	ENST00000544627.1	+	4	2025	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	ATF7IP_ENST00000543189.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D561N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D560N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D561N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	561	Glu-rich.|Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAAATCAGAAGACATGGACAA	0.353													71	31	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14589162	14589162	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:14589162G>C	ENST00000544627.1	+	4	2112	c.1792G>C	c.(1792-1794)Gac>Cac	p.D598H	ATF7IP_ENST00000543189.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D590H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D589H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D590H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	590	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGGAGACATTAACCA	0.323													101	59	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53217008	53217008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr12:53217008G>A	ENST00000330553.5	-	7	1193	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	387	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGCCGTCTGCAGCTGCTGA	0.597													6	12	---	---	---	---
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								20	10	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43038000	43038000	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43038000C>T	ENST00000267890.6	-	15	3836	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1243					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTCCTATCTGCTGAGTTTACT	0.493													29	56	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43901532	43901532	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:43901532C>A	ENST00000450892.2	-	16	3576	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S	STRC_ENST00000541030.1_Splice_Site_p.A394S	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1167					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAAACTGTGCCTACAAGAGA	0.522													4	68	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85461836	85461836	+	Splice_Site	SNP	G	G	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr15:85461836G>T	ENST00000394573.1	+	10	1078		c.e10+1		SLC28A1_ENST00000537703.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATCCTGAAGGTAAGTTCCCA	0.562													26	34	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30500700	30500700	+	Silent	SNP	C	C	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr16:30500700C>A	ENST00000356798.6	+	11	1386	c.1206C>A	c.(1204-1206)ggC>ggA	p.G402G	ITGAL_ENST00000358164.5_Silent_p.G319G|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	402					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGAGAGCAGGCTATTTGGGTG	0.488													7	31	---	---	---	---
TYMS	7298	broad.mit.edu	37	18	670815	670815	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr18:670815T>A	ENST00000323274.10	+	5	819	c.680T>A	c.(679-681)aTc>aAc	p.I227N	TYMS_ENST00000323224.7_Missense_Mutation_p.I193N|TYMS_ENST00000323250.5_Missense_Mutation_p.I144N|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CCTTTCAACATCGCCAGCTAC	0.592													38	31	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	381					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617													21	45	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56421986	56421986	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr19:56421986G>A	ENST00000588751.1	-	6	2249	c.2225C>T	c.(2224-2226)tCt>tTt	p.S742F	NLRP13_ENST00000342929.3_Missense_Mutation_p.S742F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	742							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCTTCACAGAGGAAGCATG	0.468													8	111	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4880337	4880337	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:4880337C>T	ENST00000379333.1	-	6	738	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	SLC23A2_ENST00000424750.2_Missense_Mutation_p.G116S|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G116S|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	116					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGATCGTGCCGCTGAAGCAT	0.522													35	39	---	---	---	---
STAU1	6780	broad.mit.edu	37	20	47734393	47734393	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chr20:47734393G>C	ENST00000371828.3	-	11	1692	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	STAU1_ENST00000371856.2_Missense_Mutation_p.S477C|STAU1_ENST00000360426.4_Missense_Mutation_p.S396C|STAU1_ENST00000371802.1_Missense_Mutation_p.S402C|STAU1_ENST00000340954.7_Missense_Mutation_p.S396C|STAU1_ENST00000347458.5_Missense_Mutation_p.S396C|STAU1_ENST00000371792.1_Missense_Mutation_p.S394C	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	477						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTGGCCTGAAGAGATGTTATT	0.547													3	67	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14863074	14863074	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WW-01A-11D-A377-08	TCGA-V1-A8WW-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	637ce92c-479a-4333-a272-a3bc97468267	362152fc-c864-446f-b73d-3bd9926755b8	g.chrX:14863074T>C	ENST00000398334.1	-	8	2098	c.1831A>G	c.(1831-1833)Aaa>Gaa	p.K611E	FANCB_ENST00000324138.3_Missense_Mutation_p.K611E	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	611					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TAACGATCTTTAGGACAGTTA	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				74	12	---	---	---	---
