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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DEPDC5	9681	broad.mit.edu	37	22	32293560	32293560	+	Silent	SNP	C	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:32293560C>T	uc011alu.2	+	39	4498	c.4296C>T	c.(4294-4296)ggC>ggT	p.G1432G	DEPDC5_uc011als.2_Silent_p.G1332G|DEPDC5_uc003als.3_Silent_p.G1401G|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.G1423G|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.G850G|DEPDC5_uc003alw.3_Silent_p.G699G|DEPDC5_uc011alx.2_Silent_p.G249G|DEPDC5_uc010gwk.3_Silent_p.G427G|DEPDC5_uc011aly.2_Silent_p.G249G	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1401					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTGTATGGCGACCCCCTTC	0.547000														132			38		0	0	0.086207	0	0
TBC1D15	64786	broad.mit.edu	37	12	72315226	72315226	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:72315226A>T	uc001swu.3	+	16	1921	c.1846A>T	c.(1846-1848)Aaa>Taa	p.K616*	TBC1D15_uc001sww.3_Nonsense_Mutation_p.K370*|TBC1D15_uc010stt.2_Nonsense_Mutation_p.K607*|TBC1D15_uc001swv.3_Nonsense_Mutation_p.K599*	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	616							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGATGGTAAAATGCAAGGT	0.313000														124			25		0	0	0.034045	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30863150	30863150	+	Missense_Mutation	SNP	T	G	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:30863150T>G	uc001rji.1	-	17	3821	c.3070A>C	c.(3070-3072)Aac>Cac	p.N1024H	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.N691H|CAPRIN2_uc001rjh.1_Missense_Mutation_p.N974H|CAPRIN2_uc001rjk.4_3'UTR|CAPRIN2_uc001rjj.1_Missense_Mutation_p.N690H|CAPRIN2_uc001rjl.4_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	1024	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTAAGTTGTTCAGAAGAAGA	0.443000														108			36		0	0	0.064281	0	0
NEO1	4756	broad.mit.edu	37	15	73581488	73581488	+	Splice_Site	SNP	G	A	A	rs150727403		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:73581488G>A	uc002avm.4	+	25	3842	c.3650_splice	c.e25-1	p.G1217_splice	NEO1_uc010ukx.2_Splice_Site_p.G1206_splice|NEO1_uc010uky.2_Splice_Site_p.G1217_splice|NEO1_uc002avn.4_Splice_Site_p.G1210_splice|NEO1_uc010ukz.2_Splice_Site_p.G630_splice	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1217					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACATCTAGGGCATGAGTCAG	0.488000														29			10		0	0	0.093190	0	0
TRPM6	140803	broad.mit.edu	37	9	77457155	77457155	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:77457155T>C	uc004ajl.1	-	3	495	c.257A>G	c.(256-258)cAc>cGc	p.H86R	TRPM6_uc004ajk.1_Missense_Mutation_p.H81R|TRPM6_uc022bib.1_Missense_Mutation_p.H81R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.H86R|TRPM6_uc010mpd.1_Missense_Mutation_p.H86R|TRPM6_uc010mpe.1_Missense_Mutation_p.H86R|TRPM6_uc004ajn.1_Missense_Mutation_p.H86R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	86					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCGTTGTGTGCTTTTCAAC	0.443000														158			6		0	0	0.029380	0	0
FOXA3	3171	broad.mit.edu	37	19	46376150	46376150	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:46376150C>T	uc002pdr.3	+	1	1084	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	296					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AAGCTGGACGCGCCCTACAAC	0.602000														32			6		0	0	0.029380	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	A	A	rs28934874		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7578479G>A	uc002gim.2	-	4	645	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_uc002gig.1_Missense_Mutation_p.P151S|TP53_uc002gih.3_Missense_Mutation_p.P151S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P19S|TP53_uc010cnf.1_Missense_Mutation_p.P19S|TP53_uc002gii.1_Missense_Mutation_p.P19S|TP53_uc010cni.1_Missense_Mutation_p.P151S|TP53_uc010cnh.1_Missense_Mutation_p.P151S|TP53_uc002gij.2_Missense_Mutation_p.P151S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P58S|TP53_uc002gio.2_Missense_Mutation_p.P19S|TP53_uc010vug.2_Missense_Mutation_p.P112S	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(134)|p.P151T(30)|p.P151H(27)|p.P151A(22)|p.P151fs*30(13)|p.P151P(12)|p.T150fs*16(10)|p.P152fs*18(9)|p.0?(8)|p.P151L(7)|p.P151R(7)|p.?(5)|p.T150I(4)|p.P151_V173del23(2)|p.P151del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.Q144_G154del11(2)|p.P19S(2)|p.T150_P151delTP(2)|p.P152_P153del(1)|p.T150R(1)|p.P152fs*28(1)|p.T150fs*31(1)|p.T150fs*23(1)|p.T150K(1)|p.T57fs*16(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				61			19		0	0	0.043863	0	0
OR5J2	282775	broad.mit.edu	37	11	55944144	55944144	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:55944144G>C	uc010rjb.2	+	0	51	c.51G>C	c.(49-51)ttG>ttC	p.L17F		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTTGGGATTGACAGATCATG	0.358000														148			39		0	0	0.104719	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664885	19664885	+	Missense_Mutation	SNP	C	G	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:19664885C>G	uc002wrl.3	+	10	1164	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	323						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCACACCAGCTTTCCTTCTC	0.498000														39			20		0	0	0.055883	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573895	18573895	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:18573895G>A	uc001rdt.3	+	15	2329	c.2213G>A	c.(2212-2214)cGt>cAt	p.R738H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R779H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R557H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGAAATTCGTAAAGTGGCA	0.363000														105			5		0	0	0.021553	0	0
DDX11L10	100287029	broad.mit.edu	37	16	62983	62983	+	RNA	SNP	G	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr16:62983G>T	uc010bqm.2	+	2		c.545G>T								Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10 (DDX11L10), non-coding RNA.																		GTCCTGGACAGGCTGTTGGCC	0.562000														2			2		0.0016	0.00186047	0.004672	1	0
AQP7	364	broad.mit.edu	37	9	33395107	33395107	+	Missense_Mutation	SNP	A	G	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:33395107A>G	uc003zst.3	-	2	285	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_uc003zsu.1_Intron|AQP7_uc010mjs.2_5'Flank|AQP7_uc010mjt.2_5'UTR|AQP7_uc011lny.1_Missense_Mutation_p.L37P|AQP7_uc003zss.3_5'UTR|AQP7_uc011lnz.1_5'UTR|AQP7_uc011loa.1_5'UTR|AQP7_uc011lnx.1_Missense_Mutation_p.L38P	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	38			L -> V (in dbSNP:rs2381003).		excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587000														62			10		0	0	0.058154	0	0
DOCK7	85440	broad.mit.edu	37	1	63090967	63090967	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:63090967C>T	uc001daq.3	-	11	1422	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	DOCK7_uc001dan.3_Missense_Mutation_p.R355Q|DOCK7_uc001dao.3_Missense_Mutation_p.R355Q|DOCK7_uc001dap.3_Missense_Mutation_p.R463Q|DOCK7_uc009wah.1_Missense_Mutation_p.R463Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	463					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTAGCTGGTCGAAAGCTCGT	0.388000														218			5		0	0	0.014758	0	0
EIF4G3	8672	broad.mit.edu	37	1	21155713	21155713	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:21155713T>C	uc001bec.3	-	25	4202	c.3946A>G	c.(3946-3948)Att>Gtt	p.I1316V	EIF4G3_uc010odi.2_Missense_Mutation_p.I920V|EIF4G3_uc010odj.2_Missense_Mutation_p.I1315V|EIF4G3_uc009vpz.3_Missense_Mutation_p.I1036V|EIF4G3_uc001bef.3_Missense_Mutation_p.I1352V|EIF4G3_uc001bee.3_Missense_Mutation_p.I1322V	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1316	MI.				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACAACCAAATATGGGGAATA	0.378000														101			38		0	0	0.080422	0	0
HPS1	3257	broad.mit.edu	37	10	100195403	100195403	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr10:100195403C>T	uc021pwv.1	-	3	490	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Missense_Mutation_p.V82I|HPS1_uc001kpl.3_Missense_Mutation_p.V82I	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	82					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGTGAAGGACATACAGGAAG	0.537000									Hermansky-Pudlak syndrome					182			6		0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7577580T>C	uc002gim.2	-	6	895	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTAGTTGTAGTGGATGGT	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				55			13		0	0	0.105934	0	0
RTN4R	65078	broad.mit.edu	37	22	20229582	20229582	+	Silent	SNP	C	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:20229582C>T	uc002zrv.3	-	1	1275	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	RTN4R_uc002zru.3_Silent_p.A130A	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	358					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTCCCTTCAGCGCATTGCCTG	0.662000														50			12		0	0	0.033300	0	0
MUC16	94025	broad.mit.edu	37	19	9046721	9046721	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:9046721C>A	uc002mkp.3	-	4	35114	c.34910G>T	c.(34909-34911)aGt>aTt	p.S11637I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11639	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGCAGAACTAGTGACCTG	0.522000														111			45		2.24893e-16	2.6773e-16	0.111260	1	0
RASA1	5921	broad.mit.edu	37	5	86659176	86659176	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr5:86659176C>T	uc003kiw.3	+	10	1664	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.R312C|RASA1_uc011ctv.2_Missense_Mutation_p.R322C|RASA1_uc011ctw.2_Missense_Mutation_p.R323C|RASA1_uc010jaw.3_Missense_Mutation_p.R311C	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	489	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAAAGGAAAACGTTGGAAAAA	0.274000														75			16		0	0	0.033300	0	0
MMP12	4321	broad.mit.edu	37	11	102743820	102743820	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:102743820C>T	uc001phk.3	-	1	222	c.125G>A	c.(124-126)gGc>gAc	p.G42D		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	42					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TATCTCAAGGCCATAAAATTT	0.333000														28			8		0	0	0.058154	0	0
LOC646214	646214	broad.mit.edu	37	15	21936913	21936913	+	RNA	SNP	A	G	G	rs4984137		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:21936913A>G	uc010tzj.1	-	0		c.3827T>C								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GCCATCCAGTATGGCGTTCTG	0.507000														195			3		0	0	0.009096	0	0
GOLGA8F	100132565	broad.mit.edu	37	15	28632820	28632820	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:28632820T>C	uc010uag.1	+	14	1476	c.1352T>C	c.(1351-1353)cTg>cCg	p.L451P	GOLGA8F_uc001zbn.2_Missense_Mutation_p.L249P|GOLGA8F_uc001zbp.3_Missense_Mutation_p.L245P|JA429730_uc021sgl.1_5'Flank					Homo sapiens golgin A8 family, member F (GOLGA8F), non-coding RNA.											lung(4)	4						CCACAGGACCTGGAGAGCAGG	0.617000														74			4		0	0	0.047766	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									67			30		0	0	0.041601	0	0
HYDIN	54768	broad.mit.edu	37	16	71098695	71098695	+	Silent	SNP	C	G	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr16:71098695C>G	uc002ezr.3	-	15	2275	c.2124G>C	c.(2122-2124)ggG>ggC	p.G708G	HYDIN_uc010cfz.2_Silent_p.G453G|HYDIN_uc021tkq.1_Silent_p.G708G|HYDIN_uc010vmc.2_Silent_p.G725G|HYDIN_uc010vmd.2_Silent_p.G735G	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	708										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCAGTGCCCAAAGTCCA	0.502000														39			12		0	0	0.028581	0	0
LEF1	51176	broad.mit.edu	37	4	109000758	109000758	+	Silent	SNP	A	G	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr4:109000758A>G	uc003hyt.2	-	6	1924	c.735T>C	c.(733-735)caT>caC	p.H245H	LEF1_uc011cfj.1_Silent_p.H102H|LEF1_uc011cfk.2_Silent_p.H149H|LEF1_uc003hyu.2_Silent_p.H217H|LEF1_uc003hyv.2_Silent_p.H217H|LEF1_uc010imb.2_Non-coding_Transcript|LEF1_uc003hyw.1_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	245	Pro-rich.				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGGGAATCATATGATGGGAAA	0.468000														67			28		0	0	0.054565	0	0
GRHL3	57822	broad.mit.edu	37	1	24663012	24663012	+	Missense_Mutation	SNP	C	A	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:24663012C>A	uc021oiw.1	+	3	537	c.307C>A	c.(307-309)Ctt>Att	p.L103I	GRHL3_uc001bix.3_Missense_Mutation_p.L103I|GRHL3_uc021oix.1_Missense_Mutation_p.L57I|GRHL3_uc001biy.3_Missense_Mutation_p.L108I|GRHL3_uc001biz.3_Missense_Mutation_p.L10I	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	103					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTCACTCCCCTTGAAAGCCC	0.507000														130			8		0.00307968	0.00349964	0.038147	1	0
PCSK2	5126	broad.mit.edu	37	20	17462658	17462658	+	Silent	SNP	G	A	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:17462658G>A	uc002wpm.3	+	11	2214	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	PCSK2_uc002wpl.3_Silent_p.E601E|PCSK2_uc010zrm.2_Silent_p.E585E|PCSK2_uc002wpn.3_Silent_p.E274E	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	620					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAGCTGGAGGAAGAGCTGG	0.587000														21			7		0	0	0.047766	0	0
TFR2	7036	broad.mit.edu	37	7	100229562	100229562	+	Silent	SNP	G	A	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:100229562G>A	uc003uvv.1	-	7	1042	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Silent_p.L154L	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	325					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGTTCCCAGGTGCACCTGC	0.577000														104			3		0	0	0.004672	0	0
LETMD1	25875	broad.mit.edu	37	12	51449667	51449667	+	Missense_Mutation	SNP	C	G	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:51449667C>G	uc009zlw.3	+	4	620	c.562C>G	c.(562-564)Caa>Gaa	p.Q188E	LETMD1_uc010smz.2_Missense_Mutation_p.Q125E|LETMD1_uc010sna.2_Intron|LETMD1_uc001rxm.3_Missense_Mutation_p.Q175E|LETMD1_uc001rxn.3_Missense_Mutation_p.Q18E|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Intron|LETMD1_uc001rxl.3_Missense_Mutation_p.Q119E|LETMD1_uc001rxt.3_Intron	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	175	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GACCCCAAAACAACAAACTGA	0.413000														163			3		0	0	0.004672	0	0
ACVR1B	91	broad.mit.edu	37	12	52370109	52370109	+	Splice_Site	SNP	A	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:52370109A>T	uc010snn.2	+	3	409	c.332_splice	c.e3-2	p.G111_splice	ACVR1B_uc001rzl.3_Splice_Site_p.G111_splice|ACVR1B_uc001rzm.3_Splice_Site_p.G111_splice|ACVR1B_uc001rzn.3_Splice_Site_p.G111_splice|ACVR1B_uc021qya.1_Splice_Site_p.G59_splice	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	111					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CACTTGACTCAGGTCACCTCA	0.532000														92			4		0	0	0.009096	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691811	122691811	+	Missense_Mutation	SNP	A	C	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:122691811A>C	uc001ubx.3	+	2	1231	c.1013A>C	c.(1012-1014)gAc>gCc	p.D338A	B3GNT4_uc001uby.3_Missense_Mutation_p.D313A	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	338					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GACCCCTTAGACCCCTGCCTG	0.612000														52			6		0	0	0.043863	0	0
HKR1	284459	broad.mit.edu	37	19	37854228	37854228	+	Missense_Mutation	SNP	A	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:37854228A>T	uc002ogb.3	+	5	1800	c.1531A>T	c.(1531-1533)Acc>Tcc	p.T511S	HKR1_uc002ofx.3_Missense_Mutation_p.T227S|HKR1_uc002ofy.3_Missense_Mutation_p.T227S|HKR1_uc002oga.3_Missense_Mutation_p.T493S|HKR1_uc010xto.2_Missense_Mutation_p.T493S|HKR1_uc002ogc.3_Missense_Mutation_p.T492S|HKR1_uc010xtp.2_Missense_Mutation_p.T450S|HKR1_uc002ogd.3_Missense_Mutation_p.T450S	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	511					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCGGAAATCAACCCTGAGCAC	0.507000														67			5		0	0	0.029380	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278317	21278317	+	RNA	SNP	T	G	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:21278317T>G	uc003zou.1	-	0		c.246A>C								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		AAGGGTCGCATCCCAAGTATC	0.473000														58			3		0	0	0.004672	0	0
FOXK1	221937	broad.mit.edu	37	7	4800775	4800776	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:4800775_4800776insC	uc003snc.1	+	7	1787_1788	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	FOXK1_uc003sna.1_Frame_Shift_Ins_p.A430fs	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	593					cell differentiation|embryo development|muscle organ 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|magnesium ion 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			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCCAGATGGCCCCCGGGGTC	0.673													---	150	---	---	8	---					
TCF12	6938	broad.mit.edu	37	15	57524958	57524962	+	Frame_Shift_Del	DEL	CCACC	-	-			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:57524958_57524962delCCACC	uc002aec.3	+	10	1158_1162	c.874_878delCCACC	c.(874-879)ccaccafs	p.P292fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.P344fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.P288fs|TCF12_uc002aea.3_Frame_Shift_Del_p.P292fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.P292fs|TCF12_uc002aed.3_Frame_Shift_Del_p.P292fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.P56fs|TCF12_uc002aee.3_Frame_Shift_Del_p.P122fs|TCF12_uc010bft.3_Frame_Shift_Del_p.P122fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	292					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACGAGTCTTCCACCAATGTCCAGC	0.424			T	TEC	extraskeletal myxoid chondrosarcoma								---	91	---	---	14	---					
ATRX	546	broad.mit.edu	37	X	76939371	76939372	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chrX:76939371_76939372insT	uc004ecp.4	-	8	1608_1609	c.1376_1377insA	c.(1375-1377)aagfs	p.K459fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K421fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K244fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K420fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K459fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K404fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	459					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	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)	TAGCTTCTGACTTTGAAATATC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	343	---	---	80	---					
