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
SHPRH	257218	broad.mit.edu	37	6	146215302	146215302	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr6:146215302C>T	ENST00000367503.3	-	27	5089	c.4691G>A	c.(4690-4692)cGt>cAt	p.R1564H	SHPRH_ENST00000438092.2_Missense_Mutation_p.R1564H|SHPRH_ENST00000275233.7_Missense_Mutation_p.R1560H|SHPRH_ENST00000367505.2_Missense_Mutation_p.R1560H	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1560	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.R1564H(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTCTTAACACGACTGATTTG	0.313000													6	26					0	0	0.021553	0	0
WT1	7490	broad.mit.edu	37	11	32456382	32456382	+	Silent	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:32456382G>C	ENST00000332351.3	-	1	794	c.510C>G	c.(508-510)ggC>ggG	p.G170G	WT1_ENST00000448076.3_Silent_p.G170G	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	102					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G102G(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTCCGGCTGTGCCAGTGAACT	0.667000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				5	19					0	0	0.014758	0	0
BTG2	7832	broad.mit.edu	37	1	203276285	203276285	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:203276285C>G	ENST00000290551.4	+	2	267	c.196C>G	c.(196-198)Cgc>Ggc	p.R66G		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	66					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R66G(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CTCCGGCTACCGCTGCATTCG	0.612000													13	44					0	0	0.093190	0	0
ATAD3B	83858	broad.mit.edu	37	1	1412655	1412655	+	Splice_Site	SNP	T	T	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:1412655T>C	ENST00000308647.7	+	2	323	c.205_splice	c.e2-1	p.R69_splice	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	69							ATP binding|nucleoside-triphosphatase activity	p.R69R(2)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCCCGCAGGTTACGCCAAGG	0.567000													9	20					0	0	0.047766	0	0
PPRC1	23082	broad.mit.edu	37	10	103901711	103901711	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr10:103901711C>A	ENST00000278070.2	+	5	3485	c.3446C>A	c.(3445-3447)cCa>cAa	p.P1149Q	PPRC1_ENST00000370012.1_Missense_Mutation_p.P116Q|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Missense_Mutation_p.P1149Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.P1149Q(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTGCCTACCCCACGTACTCAG	0.572000													7	29					4.68919e-08	5.17992e-08	0.069234	1	0
SEPT12	124404	broad.mit.edu	37	16	4829784	4829784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr16:4829784G>A	ENST00000268231.8	-	8	993	c.730C>T	c.(730-732)Cga>Tga	p.R244*	SEPT12_ENST00000396693.5_Nonsense_Mutation_p.R198*	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	244					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.R244*(1)|p.R244R(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						AAAGGGATTCGGTCCTGGGAA	0.572000													21	44					0	0	0.049695	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	54					0	0	0.038147	0	0
TMEM104	54868	broad.mit.edu	37	17	72815930	72815930	+	Silent	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:72815930C>T	ENST00000335464.5	+	9	840	c.678C>T	c.(676-678)gaC>gaT	p.D226D	TMEM104_ENST00000582330.1_Silent_p.D226D|TMEM104_ENST00000582773.1_Silent_p.D226D|TMEM104_ENST00000417024.2_Silent_p.D239D	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	226						integral to membrane		p.D226D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CCTTCTTTGACGTCCAGAAGA	0.562000													20	52					0	0	0.043863	0	0
SUPT6H	6830	broad.mit.edu	37	17	27004785	27004785	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:27004785C>G	ENST00000314616.6	+	8	1233	c.950C>G	c.(949-951)gCt>gGt	p.A317G	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A317G	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	317					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.A317G(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAAGAAGAAGCTGACTGGATC	0.458000													22	179					0	0	0.076483	0	0
ACACB	32	broad.mit.edu	37	12	109702190	109702190	+	Splice_Site	SNP	C	C	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr12:109702190C>A	ENST00000338432.7	+	50	7060	c.6942_splice	c.e50+1	p.S2314_splice	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Splice_Site_p.S2244_splice|ACACB_ENST00000377848.3_Splice_Site_p.S2314_splice			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2314					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.S2314Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCGTCATATCTGTGAGAGCC	0.627000											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0.115264	0.123035	0.115264	1	0
MYO15A	51168	broad.mit.edu	37	17	18063273	18063273	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:18063273C>T	ENST00000205890.5	+	56	9666	c.9328C>T	c.(9328-9330)Cgg>Tgg	p.R3110W	MYO15A_ENST00000451725.2_Missense_Mutation_p.R2W|MYO15A_ENST00000418233.3_Missense_Mutation_p.R374W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3110	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R3110W(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGAGGTCATGCGGGATGAATG	0.522000													3	20					0	0	0.014758	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555040	76555040	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr16:76555040C>A	ENST00000307431.8	+	17	2751	c.2366C>A	c.(2365-2367)tCa>tAa	p.S789*	CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.S793*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.S741*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.S717*|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	790	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S789*(1)|p.S717*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAAACAGGATCATTTTGGAAT	0.303000													49	93					1.35964e-18	1.59464e-18	0.139131	1	0
FAM196A	642938	broad.mit.edu	37	10	128936283	128936283	+	Splice_Site	SNP	C	C	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr10:128936283C>A	ENST00000522781.1	-	6	1813	c.1256_splice	c.e6-1	p.V420_splice	FAM196A_ENST00000424811.2_Splice_Site_p.V396_splice|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	420								p.V420L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCAGCTCCACACTAGAAAAG	0.428000													4	153					0.150653	0.157276	0.150653	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52703522	52703522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:52703522G>T	ENST00000287727.3	+	4	605	c.433G>T	c.(433-435)Gag>Tag	p.E145*	ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.E145*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E145*|ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.E145*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	145					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.E145*(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCTGCCAGATGAGAAGAATGT	0.368000													31	39					1.30897e-18	1.5544e-18	0.144211	1	0
SETDB1	9869	broad.mit.edu	37	1	150916440	150916440	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:150916440A>T	ENST00000271640.5	+	8	1110	c.920A>T	c.(919-921)cAg>cTg	p.Q307L	SETDB1_ENST00000368963.1_Missense_Mutation_p.240_240insC|SETDB1_ENST00000368969.4_Missense_Mutation_p.Q307L|SETDB1_ENST00000368962.2_Missense_Mutation_p.Q307L|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	307	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Q307L(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGTCACACAGTCGGAACTG	0.413000													16	161					0	0	0.069288	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													7	59					0	0	0.029380	0	0
GTF3C3	9330	broad.mit.edu	37	2	197629319	197629319	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr2:197629319G>C	ENST00000263956.3	-	18	2718	c.2629C>G	c.(2629-2631)Caa>Gaa	p.Q877E		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	877						transcription factor TFIIIC complex	DNA binding|protein binding	p.Q877E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGCGTTTGAGCCATTCCG	0.453000													8	76					0	0	0.038147	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050242	120050242	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:120050242C>T	ENST00000235547.6	+	2	288	c.149C>T	c.(148-150)tCt>tTt	p.S50F	HSD3B1_ENST00000528909.1_Missense_Mutation_p.S48F|HSD3B1_ENST00000369413.3_Missense_Mutation_p.S48F	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	48					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.S48F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GAGGAATTTTCTAGTAAGTAA	0.473000													48	165					0	0	0.139131	0	0
CXXC4	80319	broad.mit.edu	37	4	105412175	105412175	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr4:105412175G>A	ENST00000394767.2	-	2	1235	c.785C>T	c.(784-786)gCa>gTa	p.A262V	CXXC4_ENST00000426831.1_Missense_Mutation_p.A93V|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	93					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.A93V(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGCTGAGGCTGCTGCGGGGGA	0.602000													23	67					0	0	0.062417	0	0
PDE11A	50940	broad.mit.edu	37	2	178969106	178969106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr2:178969106G>A	ENST00000358450.4	-	2	183	c.85C>T	c.(85-87)Caa>Taa	p.Q29*		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.Q29*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCAGAGATTTGGACCAGTCTT	0.438000									Primary Pigmented Nodular Adrenocortical Disease, Familial				13	134					0	0	0.119110	0	0
TFCP2	7024	broad.mit.edu	37	12	51501052	51501052	+	Silent	SNP	A	A	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr12:51501052A>G	ENST00000307660.4	-	6	1362	c.642T>C	c.(640-642)taT>taC	p.Y214Y	TFCP2_ENST00000257915.5_Silent_p.Y265Y|TFCP2_ENST00000549867.1_Silent_p.Y265Y|TFCP2_ENST00000548115.1_Silent_p.Y214Y	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	265	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Y265Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGGAAGGCTGATATTTCTCCT	0.338000													91	190					0	0	0.139131	0	0
TSSC2	650368	broad.mit.edu	37	11	3429983	3429983	+	RNA	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:3429983C>T	ENST00000529482.1	+	0	2112																											CTGCGGGAGTCGCAGCAGCTC	0.532000													9	25					0	0	0.058154	0	0
TRGV4	6977	broad.mit.edu	37	7	38393521	38393521	+	RNA	SNP	T	T	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr7:38393521T>A	ENST00000390345.2	-	0	482																											CCAGTGGATGTAGCCGGTACT	0.512000													18	130					0	0	0.055883	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	RNA	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048																											CGCTGCAGCTGACTCTGCAGC	0.677000													3	16					0	0	0.150653	0	0
CD248	57124	broad.mit.edu	37	11	66084240	66084240	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:66084240G>T	ENST00000311330.3	-	1	275	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	87	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L87M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCCGCTGCAGCCCGATCCAC	0.731000													4	12					3.59834e-05	3.92922e-05	0.021553	1	0
XCL2	6846	broad.mit.edu	37	1	168510221	168510221	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:168510221G>A	ENST00000367819.2	-	3	346	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	105					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.S105L(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TGTATTGGTCGATTGCTGGGT	0.532000													7	69					0	0	0.029380	0	0
GABBR2	9568	broad.mit.edu	37	9	101052878	101052878	+	Silent	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr9:101052878G>C	ENST00000259455.2	-	19	3273	c.2814C>G	c.(2812-2814)gtC>gtG	p.V938V		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	938					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.V938V(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACAGGCCCGAGACCATGACTC	0.682000													6	5					0	0	0.058154	0	0
ACACB	32	broad.mit.edu	37	12	109698352	109698352	+	Silent	SNP	C	C	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr12:109698352C>A	ENST00000338432.7	+	48	6683	c.6564C>A	c.(6562-6564)ccC>ccA	p.P2188P	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Silent_p.P2118P|ACACB_ENST00000377848.3_Silent_p.P2188P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2188	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.P2188P(2)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACAAACAGCCCATCCTGATCT	0.537000													68	76					5.7554e-21	6.92106e-21	0.139131	1	0
SPPL3	121665	broad.mit.edu	37	12	121204115	121204115	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr12:121204115T>C	ENST00000353487.2	-	10	1537	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	346						integral to membrane	aspartic-type endopeptidase activity	p.Y345C(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGCACCAAATAGAGAAGGGC	0.522000													3	8					0	0	0.115264	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970073	101970073	+	Silent	SNP	A	A	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chrX:101970073A>G	ENST00000543253.1	+	5	1195	c.276A>G	c.(274-276)ggA>ggG	p.G92G	GPRASP2_ENST00000332262.5_Silent_p.G92G|GPRASP2_ENST00000535209.1_Silent_p.G92G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.G92G(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCTCAAGGAATCACAGGGG	0.577000													17	64					0	0	0.175082	0	0
SOCS5	9655	broad.mit.edu	37	2	46986084	46986084	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr2:46986084G>C	ENST00000306503.5	+	2	587	c.415G>C	c.(415-417)Gat>Cat	p.D139H	SOCS5_ENST00000394861.2_Missense_Mutation_p.D139H	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	139					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			p.D139H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ATTGGATGCTGATAAAAAGTT	0.458000													6	59					0	0	0.038147	0	0
ADCY10	55811	broad.mit.edu	37	1	167815048	167815048	+	Silent	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:167815048C>G	ENST00000367848.1	-	21	2981	c.2484G>C	c.(2482-2484)gtG>gtC	p.V828V	ADCY10_ENST00000545172.1_Silent_p.V767V|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.V920V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	920					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.V920V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGCACTCGATCACCTCATTCT	0.502000													10	107					0	0	0.058154	0	0
FHOD1	29109	broad.mit.edu	37	16	67265670	67265670	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr16:67265670G>A	ENST00000258201.4	-	15	2502	c.2255C>T	c.(2254-2256)gCc>gTc	p.A752V	FHOD1_ENST00000567687.1_Missense_Mutation_p.A331V	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	752	FH2.|Interaction with ROCK1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.A752V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGCCAGCTGGGCTTCCTCAAT	0.602000													6	19					0	0	0.038147	0	0
TUBD1	51174	broad.mit.edu	37	17	57968194	57968194	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:57968194C>G	ENST00000325752.3	-	2	447	c.170G>C	c.(169-171)gGa>gCa	p.G57A	TUBD1_ENST00000592426.1_Missense_Mutation_p.G57A|TUBD1_ENST00000376094.4_Missense_Mutation_p.G57A|TUBD1_ENST00000346141.6_Missense_Mutation_p.G57A|TUBD1_ENST00000340993.6_Missense_Mutation_p.G57A|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.G57A	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	57					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.G57A(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACACCTACCTCCATTCTCCTC	0.478000													16	138					0	0	0.043863	0	0
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr10:123970013G>A	ENST00000369000.1	+	0	794				TACC2_ENST00000369004.3_Missense_Mutation_p.D103N|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980N|TACC2_ENST00000360561.3_Missense_Mutation_p.D103N|TACC2_ENST00000513429.1_Missense_Mutation_p.D171N|TACC2_ENST00000358010.1_Missense_Mutation_p.D171N|TACC2_ENST00000369005.1_Missense_Mutation_p.D2025N|TACC2_ENST00000453444.2_Missense_Mutation_p.D2029N|TACC2_ENST00000368999.1_Missense_Mutation_p.D103N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025N|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369001.1_De_novo_Start_OutOfFrame|TACC2_ENST00000260733.3_Missense_Mutation_p.D103N|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029N			O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2							microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D2025H(2)|p.D2025N(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGCCGTCTTCGATGAAGACAA	0.552000													4	26					0	0	0.150653	0	0
RIC8A	60626	broad.mit.edu	37	11	211339	211339	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:211339G>A	ENST00000526104.1	+	5	2303	c.959G>A	c.(958-960)cGt>cAt	p.R320H	RIC8A_ENST00000325207.5_Missense_Mutation_p.R320H|RIC8A_ENST00000527696.1_Missense_Mutation_p.R314H			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	320						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.R320H(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTAGAGAAGCGTTTGCACAAG	0.562000													3	32					0	0	0.115264	0	0
FAT1	2195	broad.mit.edu	37	4	187521354	187521354	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr4:187521354G>A	ENST00000441802.2	-	22	12010	c.11801C>T	c.(11800-11802)tCg>tTg	p.S3934L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3934	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S3934L(1)|p.S3937L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTGTGCCCGATGCAGTATG	0.517000										HNSCC(5;0.00058)			3	46					0	0	0.115264	0	0
IGSF22	283284	broad.mit.edu	37	11	18737204	18737204	+	Missense_Mutation	SNP	C	C	T	rs142049851	by1000genomes	TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:18737204C>T	ENST00000513874.1	-	11	1445	c.1306G>A	c.(1306-1308)Gca>Aca	p.A436T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	436	Ig-like 3.							p.A436T(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCCAGGCATGCGCGACTCCTC	0.527000													4	81					0	0	0.150653	0	0
ZNF548	147694	broad.mit.edu	37	19	57910809	57910809	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr19:57910809G>A	ENST00000366197.5	+	3	1404	c.1154G>A	c.(1153-1155)aGa>aAa	p.R385K	AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R397K|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R397K(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACATTGGAGAAATCACACT	0.438000													3	56					0	0	0.115264	0	0
SSX7	280658	broad.mit.edu	37	X	52682498	52682498	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chrX:52682498T>C	ENST00000298181.5	-	2	183	c.25A>G	c.(25-27)Agg>Ggg	p.R9G		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.R9G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTAGGTCTCCTTGCAAAGGCG	0.567000													8	146					0	0	0.047766	0	0
C1orf112	55732	broad.mit.edu	37	1	169816906	169816906	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:169816906T>G	ENST00000286031.6	+	20	2720	c.2020T>G	c.(2020-2022)Tct>Gct	p.S674A	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.S674A	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	674								p.S674A(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGATTTTGTATCTTCTTTAGG	0.343000													6	236					0	0	0.029380	0	0
CARD11	84433	broad.mit.edu	37	7	2968322	2968322	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr7:2968322C>A	ENST00000396946.4	-	13	2067	c.1664G>T	c.(1663-1665)cGg>cTg	p.R555L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTG	0.587000			Mis		DLBCL								3	82					0.115264	0.123035	0.115264	1	0
CADPS2	93664	broad.mit.edu	37	7	122091483	122091483	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr7:122091483C>G	ENST00000334010.7	-	14	2657	c.2236G>C	c.(2236-2238)Gag>Cag	p.E746Q	CADPS2_ENST00000449022.2_Missense_Mutation_p.E745Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E742Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.E742Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	745					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.E745Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTATCTCCTCAAATCTTTCT	0.274000													3	57					0	0	0.115264	0	0
AKAP9	10142	broad.mit.edu	37	7	91712538	91712538	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr7:91712538C>T	ENST00000359028.2	+	34	8476	c.8251C>T	c.(8251-8253)Cac>Tac	p.H2751Y	AKAP9_ENST00000358100.2_Missense_Mutation_p.H2751Y|AKAP9_ENST00000356239.3_Missense_Mutation_p.H2739Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2751	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.H2739Y(1)|p.H2751Y(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTTAGGGATCACCTCGCAGA	0.373000			T	BRAF	papillary thyroid								13	87					0	0	0.093190	0	0
UACA	55075	broad.mit.edu	37	15	70960850	70960850	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr15:70960850C>G	ENST00000322954.6	-	16	2358	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	UACA_ENST00000379983.2_Missense_Mutation_p.D712H|UACA_ENST00000539319.1_Missense_Mutation_p.D616H|UACA_ENST00000560441.1_Missense_Mutation_p.D710H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	725						cytoskeleton|extracellular region		p.D725H(1)|p.D712H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCTTATTATCCAAATAAACT	0.318000													11	84					0	0	0.069234	0	0
ORAI2	80228	broad.mit.edu	37	7	102087127	102087127	+	Silent	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr7:102087127G>A	ENST00000356387.2	+	4	628	c.393G>A	c.(391-393)ctG>ctA	p.L131L	ORAI2_ENST00000473939.1_Silent_p.L131L|ORAI2_ENST00000403646.3_Silent_p.L131L|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.L131L	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	131						integral to membrane	protein binding	p.L131L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TCCACAACCTGAACTCCATCA	0.637000													12	123					0	0	0.093190	0	0
ZNF451	26036	broad.mit.edu	37	6	57006175	57006175	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr6:57006175C>T	ENST00000370706.4	+	8	1022	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.L260F|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L260F(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAATTGCTTCCTTCTTTTTAG	0.373000													7	32					0	0	0.029380	0	0
ESRRG	2104	broad.mit.edu	37	1	216824404	216824404	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:216824404G>A	ENST00000391890.3	-	5	948	c.431C>T	c.(430-432)aCg>aTg	p.T144M	ESRRG_ENST00000493603.1_Missense_Mutation_p.T144M|ESRRG_ENST00000361395.2_Missense_Mutation_p.T144M|ESRRG_ENST00000366937.1_Missense_Mutation_p.T172M|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000360012.3_Missense_Mutation_p.T144M|ESRRG_ENST00000366940.2_Missense_Mutation_p.T144M|ESRRG_ENST00000361525.3_Missense_Mutation_p.T144M|ESRRG_ENST00000493748.1_Missense_Mutation_p.T144M|ESRRG_ENST00000408911.3_Missense_Mutation_p.T167M|ESRRG_ENST00000359162.2_Missense_Mutation_p.T144M|ESRRG_ENST00000487276.1_Missense_Mutation_p.T144M|ESRRG_ENST00000366938.2_Missense_Mutation_p.T144M	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	167					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.T167M(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ACATTCATTCGTGGCAGGGCA	0.418000													29	103					0	0	0.144211	0	0
EML4	27436	broad.mit.edu	37	2	42488319	42488319	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr2:42488319C>G	ENST00000318522.5	+	4	659	c.397C>G	c.(397-399)Cat>Gat	p.H133D	EML4_ENST00000402711.2_Intron|EML4_ENST00000401738.3_Missense_Mutation_p.H133D	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	133					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.H133D(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						agaggaaTCTCATTCTAATGA	0.368000			T	ALK	NSCLC								5	67					0	0	0.014758	0	0
COA6	388753	broad.mit.edu	37	1	234509420	234509420	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:234509420G>A	ENST00000366615.4	+	1	219	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		TGGGCGGGCAGAGAGGTCGGC	0.682000													17	231					0	0	0.069288	0	0
FOXB2	442425	broad.mit.edu	37	9	79635526	79635526	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr9:79635526T>C	ENST00000376708.1	+	1	956	c.956T>C	c.(955-957)gTc>gCc	p.V319A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	319					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.V319A(2)|p.V185A(1)		breast(1)|lung(8)|ovary(1)	10						CACGTTGGCGTCATGGATTCG	0.721000													2	7					0	0	0.115264	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418451	105418451	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr14:105418451G>A	ENST00000333244.5	-	7	3456	c.3337C>T	c.(3337-3339)Ccc>Tcc	p.P1113S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1113						nucleus		p.P1113S(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)			TCCGCCTTGGGGCTTTTCAGG	0.647000													45	226					0	0	0.131918	0	0
NLRC4	58484	broad.mit.edu	37	2	32476011	32476011	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr2:32476011G>C	ENST00000404025.2	-	5	1410	c.922C>G	c.(922-924)Ctc>Gtc	p.L308V	NLRC4_ENST00000360906.5_Missense_Mutation_p.L308V|NLRC4_ENST00000402280.1_Missense_Mutation_p.L308V|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	308	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.L308V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTCGGATGAGAGCCTGGGCG	0.532000													5	64					0	0	0.014758	0	0
OR5M1	390168	broad.mit.edu	37	11	56380559	56380559	+	Silent	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:56380559G>A	ENST00000526538.1	-	1	419	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I140I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GACAGACACAGATGTTCTTGG	0.448000													11	56					0	0	0.080935	0	0
PAN3	255967	broad.mit.edu	37	13	28855451	28855451	+	Splice_Site	SNP	G	G	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr13:28855451G>T	ENST00000399613.1	+	16	1782		c.e16-1		PAN3_ENST00000282391.5_Splice_Site|PAN3_ENST00000380958.3_Splice_Site			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	p.?(2)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ATGTTTTATAGGAGGTTCAAA	0.303000													11	42					1.5842e-08	1.77058e-08	0.105934	1	0
FCGR3A	2214	broad.mit.edu	37	1	161512867	161512867	+	Nonsense_Mutation	SNP	G	G	A	rs1042207	byFrequency	TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr1:161512867G>A	ENST00000367969.3	-	5	991	c.808C>T	c.(808-810)Cga>Tga	p.R270*	FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	234					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.R270*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTGAGCTTCGAATGTTTGTC	0.443000													5	267					0	0	0.014758	0	0
ATRX	546	broad.mit.edu	37	X	76874343	76874343	+	Silent	SNP	G	G	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chrX:76874343G>T	ENST00000373344.5	-	21	5593	c.5379C>A	c.(5377-5379)acC>acA	p.T1793T	ATRX_ENST00000395603.3_Silent_p.T1755T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1793					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.T1793T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CATCTACCATGGTAGAATCTG	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						4	78					0.150653	0.157276	0.150653	1	0
UACA	55075	broad.mit.edu	37	15	70961012	70961012	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr15:70961012G>T	ENST00000322954.6	-	16	2196	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	UACA_ENST00000379983.2_Missense_Mutation_p.L658I|UACA_ENST00000539319.1_Missense_Mutation_p.L562I|UACA_ENST00000560441.1_Missense_Mutation_p.L656I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	671						cytoskeleton|extracellular region		p.L671I(1)|p.L658I(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACATTCTCAAGTTCTCTCTTT	0.358000													22	97					2.44723e-14	2.83521e-14	0.099896	1	0
TRPM6	140803	broad.mit.edu	37	9	77339635	77339635	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr9:77339635T>C	ENST00000451710.3	-	38	6212	c.5975A>G	c.(5974-5976)gAa>gGa	p.E1992G	TRPM6_ENST00000449912.2_Missense_Mutation_p.E1983G|TRPM6_ENST00000376871.3_Missense_Mutation_p.E825G|TRPM6_ENST00000376872.3_Missense_Mutation_p.E943G|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1983G|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1988G			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1988					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1988G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTTATCCTTTCAGGGGAATA	0.408000													15	91					0	0	0.132662	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:47599133C>T	ENST00000533290.1	-	1	1208	c.494G>A	c.(493-495)cGc>cAc	p.R165H	KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140	BACK.							p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517000													4	171					0	0	0.029380	0	0
VCP	7415	broad.mit.edu	37	9	35059603	35059603	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr9:35059603G>C	ENST00000358901.6	-	14	2786	c.1891C>G	c.(1891-1893)Cct>Gct	p.P631A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	631					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.P631A(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGATGGCAGGATCAATGATG	0.502000													7	51					0	0	0.047766	0	0
PRDM15	63977	broad.mit.edu	37	21	43274737	43274737	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr21:43274737G>A	ENST00000422911.1	-	5	688	c.587C>T	c.(586-588)gCg>gTg	p.A196V	PRDM15_ENST00000447207.2_Missense_Mutation_p.A159V|PRDM15_ENST00000269844.3_Missense_Mutation_p.A525V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A196V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A159V			P57071	PRD15_HUMAN	PR domain containing 15	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A525V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ATAGAAGGCCGCATACCACAC	0.647000													4	97					0	0	0.150653	0	0
SSH2	85464	broad.mit.edu	37	17	27993938	27993938	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:27993938C>T	ENST00000269033.3	-	10	1049	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.V327M	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	300					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V300M(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGGATCACTATCATTTCA	0.383000													34	169					0	0	0.173368	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													5	48					0	0	0.021553	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43577778	43577778	+	Silent	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr18:43577778C>G	ENST00000409746.5	-	9	650	c.579G>C	c.(577-579)ctG>ctC	p.L193L	PSTPIP2_ENST00000589328.1_Silent_p.L193L|PSTPIP2_ENST00000588801.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	193						membrane		p.H194Y(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGCCGATGTGCAGCATGTATG	0.572000													28	33					0	0	0.144211	0	0
MUC5B	727897	broad.mit.edu	37	11	1278885	1278885	+	Silent	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr11:1278885C>T	ENST00000447027.1	+	41	16462	c.16404C>T	c.(16402-16404)ttC>ttT	p.F5468F	MUC5B_ENST00000529681.1_Silent_p.F5465F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5465	VWFC 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.F5420F(1)|p.F5465F(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCCGGCTTCGTAACCGTGA	0.697000													3	4					0	0	0.115264	0	0
AKAP6	9472	broad.mit.edu	37	14	33015676	33015676	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr14:33015676G>T	ENST00000280979.4	+	4	1987	c.1817G>T	c.(1816-1818)gGt>gTt	p.G606V	AKAP6_ENST00000557272.1_Missense_Mutation_p.G606V|AKAP6_ENST00000557354.1_Missense_Mutation_p.G606V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	606					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.G606V(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCAAAAAAGGTCAAGCCTCC	0.488000													12	90					1.61879e-10	1.83078e-10	0.093190	1	0
AQP9	366	broad.mit.edu	37	15	58467128	58467128	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr15:58467128T>A	ENST00000219919.4	+	4	758	c.388T>A	c.(388-390)Tcc>Acc	p.S130T	AQP9_ENST00000558772.1_Missense_Mutation_p.S65T|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.S130T	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	130					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.S130T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGGACTTATGTCCTTTGCTGG	0.478000													9	47					0	0	0.058154	0	0
KRT71	112802	broad.mit.edu	37	12	52942007	52942007	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr12:52942007C>T	ENST00000267119.5	-	5	976	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	303	Coil 2.|Rod.						structural molecule activity	p.E303K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTGCGGACTTCGTCAATGATG	0.567000													10	85					0	0	0.058154	0	0
KCNA1	3736	broad.mit.edu	37	12	5021828	5021828	+	Silent	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr12:5021828C>T	ENST00000382545.3	+	2	2391	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	428					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.L428L(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCAGTTGCTCCACGTCAGTT	0.502000													6	317					0	0	0.021553	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752603	14752603	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr18:14752603A>T	ENST00000358984.4	+	2	440	c.260A>T	c.(259-261)gAa>gTa	p.E87V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E87V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	87								p.E87V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GGCCATGCAGAAGTAGTAACA	0.453000													3	15					0	0	0.150653	0	0
FRYL	285527	broad.mit.edu	37	4	48542536	48542536	+	Silent	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr4:48542536C>T	ENST00000358350.4	-	46	6733	c.6129G>A	c.(6127-6129)aaG>aaA	p.K2043K	FRYL_ENST00000503238.1_Silent_p.K2043K|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.K2043K	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2043					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.K2043K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CATTTTCAATCTTCTCTCGAC	0.383000													9	97					0	0	0.058154	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665822	665822	+	Missense_Mutation	SNP	C	C	T	rs145153320	byFrequency	TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr12:665822C>T	ENST00000266383.5	+	15	2183	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	724						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.R724W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCGCGTGGTGCGGCTCTCGGA	0.632000													3	38					0	0	0.115264	0	0
SMTN	6525	broad.mit.edu	37	22	31492754	31492754	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr22:31492754G>C	ENST00000333137.7	+	14	2115	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Missense_Mutation_p.E633Q|SMTN_ENST00000347557.2_Missense_Mutation_p.E633Q	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	633					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.E633Q(2)|p.E656Q(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCGGCTGCAGGAGGCACGGGG	0.677000													12	54					0	0	0.132662	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43577777	43577777	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr18:43577777G>A	ENST00000409746.5	-	9	651	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.H194Y|PSTPIP2_ENST00000588801.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	194						membrane		p.H194Y(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GTGCCGATGTGCAGCATGTAT	0.572000													28	35					0	0	0.144211	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465845	61465845	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr18:61465845C>G	ENST00000398019.2	+	6	787	c.462C>G	c.(460-462)atC>atG	p.I154M	SERPINB7_ENST00000336429.2_Missense_Mutation_p.I154M|SERPINB7_ENST00000540675.1_Missense_Mutation_p.I137M|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I154M	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	154					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.I154M(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAGGCAAAATCAAGAACGTGA	0.328000													9	80					0	0	0.047766	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	60					0	0	0.115264	0	0
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													2	4	---	---	---	---					
RP11-89K10.1	0	broad.mit.edu	37	8	127595300	127595311	+	RNA	DEL	GCCACAGAGGCT	GCCACAGAGGCT	-			TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr8:127595300_127595311delGCCACAGAGGCT	ENST00000519880.1	+	0	57				RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA																							CCACAATGGAGCCACAGAGGCTGGGCCTCTAG	0.453													8	10	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													7	2	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880997	37880998	+	In_Frame_Ins	INS	-	-	TCT	rs144434331		TCGA-86-6562-01A-11D-1753-08	TCGA-86-6562-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48dd11b-89ae-4278-8de0-7956423c8609	15867b54-ec82-49b3-a442-689bda9a716d	g.chr17:37880997_37880998insTCT	ENST00000406381.2	+	22	2746_2747	c.2236_2237insTCT	c.(2236-2238)tgt>TCTtgt	p.745_746insS	ERBB2_ENST00000445658.2_In_Frame_Ins_p.499_500insS|ERBB2_ENST00000541774.1_In_Frame_Ins_p.760_761insS|ERBB2_ENST00000540147.1_In_Frame_Ins_p.745_746insS|ERBB2_ENST00000269571.5_In_Frame_Ins_p.775_776insS|ERBB2_ENST00000584601.1_In_Frame_Ins_p.745_746insS|ERBB2_ENST00000584450.1_In_Frame_Ins_p.775_776insS	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	775	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A775_G776insYVMA(10)|p.G776>VC(9)|p.G776>LC(3)|p.G776V(2)|p.G776S(2)|p.G776C(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGTGATGGCTGGTGTGGGCTCC	0.579		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			16	53	---	---	---	---					
