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
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	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													5	76					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716000													4	18					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6677968	6677968	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:6677968G>A	ENST00000245907.6	-	41	5009	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1639	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTTCTCTTCGTCTTGGCATT	0.597000													32	51					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596694	136596694	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:136596694C>A	ENST00000531224.1	-	6	2080	c.1828G>T	c.(1828-1830)Gtg>Ttg	p.V610L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	610					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACCAAGGACACAATGTGTTGA	0.353000													14	123					5.35267e-07	5.42701e-07	1	1	0
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		CAAACACGCACCTCAAAGCTG	0.527000		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)			30	2					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705883	65705883	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:65705883T>A	ENST00000304842.5	+	2	896	c.471T>A	c.(469-471)tgT>tgA	p.C157*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	157					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTATTTATGTAATAAAGATC	0.443000													46	35					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:56552352C>T	ENST00000390649.3	+	11	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562000													46	17					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113698614	113698614	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr5:113698614T>C	ENST00000512097.3	+	2	1160	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	48						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGGCGCGTCCTCCCCGTCTGC	0.692000													3	15					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144802971	144802971	+	Nonsense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:144802971T>G	ENST00000338033.4	+	9	997	c.878T>G	c.(877-879)tTa>tGa	p.L293*		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	293	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACAAGCGGTTAAGCGCGACC	0.672000													15	23					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													9	135					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874315	23874315	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:23874315A>T	ENST00000405093.3	-	6	594	c.524T>A	c.(523-525)cTc>cAc	p.L175H	MYH6_ENST00000356287.3_Missense_Mutation_p.L175H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	175	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACGTGATGAGGATGGACTG	0.582000													4	123					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605198	160605198	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:160605198C>T	ENST00000259050.4	+	5	1519	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ACATCAGATTCGGCTCAAGGT	0.493000													5	240					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	126					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2701539	2701539	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr4:2701539C>T	ENST00000324666.5	+	17	3118	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	923										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGAATTTCAGCGGCTTCAGGA	0.537000													4	52					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895601	90895601	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:90895601A>G	ENST00000287934.2	+	1	1819	c.1406A>G	c.(1405-1407)gAc>gGc	p.D469G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	469					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCCAGGTGGACGGCGATGTG	0.632000													69	109					0	0	1	0	0
GPR52	9293	broad.mit.edu	37	1	174417494	174417494	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:174417494C>T	ENST00000367685.2	+	1	283	c.245C>T	c.(244-246)aCg>aTg	p.T82M	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	82						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTCATTCAGACGATGGCATAT	0.428000													5	242					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													8	149					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298550	125298550	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:125298550C>T	ENST00000538699.1	-	2	1438	c.1358G>A	c.(1357-1359)gGc>gAc	p.G453D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G453D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	453										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCCATGGAGGCCTGAAGGGAG	0.547000													57	71					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29633901	29633901	+	Silent	SNP	A	A	G	rs139362347	by1000genomes	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29633901A>G	ENST00000278882.3	+	9	920	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FRG1B_ENST00000358464.4_Silent_p.E180E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAACAAGAGAACCAAATTGAA	0.269000													4	182					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35672586	35672586	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:35672586A>G	ENST00000373664.3	-	13	1739	c.1673T>C	c.(1672-1674)aTt>aCt	p.I558T	RBL1_ENST00000344359.3_Missense_Mutation_p.I558T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	558	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGTTCTTCAATGCTGTTTAG	0.478000													33	67					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922090	159922090	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:159922090A>G	ENST00000368093.3	-	3	742	c.626T>C	c.(625-627)gTc>gCc	p.V209A	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGAACTGACGTTGCTGAT	0.567000													41	58					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17954587	17954587	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:17954587G>A	ENST00000458235.1	-	3	406	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	JAK3_ENST00000527670.1_Splice_Site_p.R103C|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Splice_Site_p.R103C	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	103	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).			R -> RS (in Ref. 3; AAC50950).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACTTCCTACCGAATCCTGTAC	0.592000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								20	47					0	0	1	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927814	13927814	+	RNA	SNP	A	A	T	rs141406384	by1000genomes	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:13927814A>T	ENST00000602743.1	-	0	224																											TTGGTGGGAGACGCTCAAGAG	0.512000													3	0					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													5	139					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115046	158115046	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:158115046C>A	ENST00000259056.4	+	1	937	c.452C>A	c.(451-453)cCt>cAt	p.P151H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	151					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGCACCAAACCTGAAGCCTCC	0.542000													11	38					0.00316338	0.00316338	1	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517240	158517240	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:158517240A>G	ENST00000302617.3	-	1	655	c.656T>C	c.(655-657)gTg>gCg	p.V219A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATGCCACCACAACACAAAG	0.552000													23	48					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													7	336					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													6	155					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407750	1407750	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:1407750G>A	ENST00000381524.3	+	6	628	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	148						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCCGTGACGTCCAGTATTT	0.468000													68	70					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941457	35941457	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:35941457C>T	ENST00000599180.2	+	2	921	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCAGTGGTGCGCAGGGCATT	0.577000													214	83					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677440	100677440	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:100677440C>T	ENST00000306151.4	+	3	2807	c.2743C>T	c.(2743-2745)Cca>Tca	p.P915S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	915	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.507000													7	635					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24785430	24785430	+	Silent	SNP	G	G	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:24785430G>T	ENST00000396789.4	+	2	2298	c.573G>T	c.(571-573)ctG>ctT	p.L191L	LTB4R_ENST00000345363.3_Silent_p.L191L|LTB4R_ENST00000396782.2_Silent_p.L191L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGGGCTTCCTGCTGCCCTTCC	0.672000													86	48					2.56433e-40	2.63656e-40	1	1	0
CHGB	1114	broad.mit.edu	37	20	5905691	5905691	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:5905691G>A	ENST00000378961.4	+	5	2234	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	677						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCAAAGGGGCTGACTGTCA	0.438000													22	22					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47044862	47044862	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:47044862G>A	ENST00000377604.3	+	20	2930	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T	RBM10_ENST00000329236.7_Missense_Mutation_p.A652T|RBM10_ENST00000345781.6_Missense_Mutation_p.A653T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	730					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGACTGGTGGCAGCCTACAG	0.682000													4	3					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								40	70					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													5	144					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155255024	155255024	+	RNA	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:155255024C>T	ENST00000285718.7	+	0	1329				WASH6P_ENST00000461007.1_RNA																							AGGACGAGGACGACTGGGAAT	0.647000													5	11					0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18554945	18554945	+	Silent	SNP	A	A	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:18554945A>C	ENST00000330537.6	-	7	899	c.729T>G	c.(727-729)acT>acG	p.T243T	NOMO2_ENST00000543392.1_Silent_p.T76T|NOMO2_ENST00000381474.3_Silent_p.T243T	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	243						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTACCTCTTTAGTTACTAAAG	0.438000													53	92					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39433035	39433035	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:39433035T>A	ENST00000273158.4	+	4	757	c.380T>A	c.(379-381)gTc>gAc	p.V127D		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	127					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTGGAGTCAGTCATGCTGGGG	0.527000													5	275					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	9					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr18:15323347T>C	ENST00000455308.2	-	0	501					NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303000													5	25					0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2087555	2087555	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:2087555C>T	ENST00000424542.2	+	6	947	c.809C>T	c.(808-810)gCg>gTg	p.A270V	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	270					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GGTGGCTCTGCGTGCTCGTCC	0.582000													3	23					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938344	76938344	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938344T>C	ENST00000373344.5	-	9	2618	c.2404A>G	c.(2404-2406)Ata>Gta	p.I802V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I764V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	802					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.?(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)	TTAGAAATTATAGAGCTCTTA	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						188	186					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48248981	48248981	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:48248981G>A	ENST00000246802.5	+	1	203	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	55						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTCAGGAGCCGCTGGGGCTGG	0.697000													3	11					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261635	6261635	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr11:6261635C>T	ENST00000379936.2	+	4	726	c.611C>T	c.(610-612)cCg>cTg	p.P204L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	204					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGTACCCGGACCCCGCG	0.567000													16	169					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95276727	95276727	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:95276727G>A	ENST00000371485.3	+	6	1019	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	239					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATGTTACAACGATCTCTTGGC	0.333000													22	54					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71861646	71861646	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:71861646C>T	ENST00000377245.4	+	18	2815	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000539225.1_Silent_p.G900G|TJP2_ENST00000453658.2_Silent_p.G846G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	869	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCTGGTTTGGCAGCTTAAAGG	0.408000													4	99					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141329	25141329	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:25141329G>A	ENST00000260600.5	-	1	1379	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	176					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGAAGGAGAAGACAAAGAAGA	0.612000													38	33					0	0	1	0	0
ERAS	3266	broad.mit.edu	37	X	48688182	48688182	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:48688182G>A	ENST00000338270.1	+	1	900	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	217					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GTCCTGTAGGGAGAAGACCCG	0.607000													9	12					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53264614	53264614	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:53264614C>T	ENST00000462138.1	-	8	1054	c.966G>A	c.(964-966)ggG>ggA	p.G322G	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.G322G|TKT_ENST00000423516.1_Silent_p.G330G|TKT_ENST00000296289.6_Silent_p.G275G			P29401	TKT_HUMAN	transketolase	322					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCAGTGCCTGCCCGTAGGCCT	0.597000													16	28					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr18:15323336G>A	ENST00000455308.2	-	0	512					NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289000													6	26					0	0	1	0	0
FAM96A	84191	broad.mit.edu	37	15	64381046	64381046	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:64381046C>G	ENST00000557835.1	-	2	155	c.129G>C	c.(127-129)ttG>ttC	p.L43F	FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F|FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000300030.3_Missense_Mutation_p.L43F			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	43					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGTTCTAATCAAATCTAAAG	0.348000													36	38					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85605368	85605368	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:85605368T>G	ENST00000376447.3	-	16	2315	c.2055A>C	c.(2053-2055)ttA>ttC	p.L685F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	685					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTCACAGAATAATGCCCCAT	0.348000													48	59					0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124671156	124671156	+	Silent	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:124671156A>G	ENST00000368894.1	+	2	127	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TAGGCATGGCAAAGATGTTTG	0.502000													78	108					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													6	137					0	0	1	0	0
MMAB	326625	broad.mit.edu	37	12	109998861	109998861	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:109998861G>A	ENST00000545712.2	-	7	961	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	MMAB_ENST00000266839.5_Missense_Mutation_p.R99C|MMAB_ENST00000540016.1_Missense_Mutation_p.R138C	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	190					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGGCCCGGCGGCACACGGCC	0.652000													10	42					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661308	113661308	+	RNA	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr11:113661308A>G	ENST00000393544.2	+	0	1356																											GAGAAAATGGATTTGAAGGAG	0.478000													67	55					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70321220	70321220	+	Silent	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:70321220C>T	ENST00000374259.3	+	2	1472	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	FOXO4_ENST00000341558.3_Silent_p.D325D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	380					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCCCTGCTGACGTCCTCATGA	0.652000													6	42					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83823801	83823801	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:83823801T>G	ENST00000265362.4	-	1	416	c.102A>C	c.(100-102)ttA>ttC	p.L34F	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGTAGGATAATTTCAGCC	0.408000													62	75					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178427190	178427190	+	Silent	SNP	G	G	A			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:178427190G>A	ENST00000448150.3	+	14	3548	c.2730G>A	c.(2728-2730)tcG>tcA	p.S910S	RASAL2_ENST00000462775.1_Silent_p.S780S|RASAL2_ENST00000367649.3_Silent_p.S921S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	780					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGCCCTTGTCGTTCCAGAACC	0.542000													12	60					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29043864	29043864	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:29043864C>T	ENST00000524189.1	-	6	480	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	148	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGTAGGACACTTCTACTTTA	0.393000													10	177					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													5	149					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76491163	76491163	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:76491163C>T	ENST00000389840.5	-	39	6002	c.5878G>A	c.(5878-5880)Gtc>Atc	p.V1960I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V1969I|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTCGGGGACGACCATGGCA	0.607000													4	8					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038748	11038748	+	RNA	SNP	C	C	T	rs75164355	by1000genomes	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr21:11038748C>T	ENST00000470054.1	-	0	1455									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGAGGTCTACCAGGAGAAAAT	0.378000													8	245					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr18:15323340A>G	ENST00000455308.2	-	0	508					NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299000													6	27					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53008439	53008439	+	Missense_Mutation	SNP	G	G	A	rs142246988	byFrequency	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:53008439G>A	ENST00000305748.3	-	4	777	c.743C>T	c.(742-744)aCg>aTg	p.T248M	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	248	Coil 1B.|Rod.		T -> M (in a colorectal cancer sample; somatic mutation).			keratin filament	structural molecule activity	p.T248M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTTTGCTCGTGTAAGCTGC	0.577000													42	38					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													9	123	---	---	---	---					
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381													7	110	---	---	---	---					
CAPN10	11132	broad.mit.edu	37	2	241531435	241531435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:241531435delA	ENST00000391984.2	+	4	752	c.556delA	c.(556-558)aacfs	p.N186fs	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	186	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAAAGATGGAACCTGAAGGG	0.657													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102295874	102295876	+	RNA	DEL	CTC	CTC	-	rs2943079		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:102295874_102295876delCTC	ENST00000561463.1	+	0	3920_3922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													3	6	---	---	---	---					
CACNA1H	8912	broad.mit.edu	37	16	1268228	1268228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:1268228delT	ENST00000348261.5	+	33	5712	c.5464delT	c.(5464-5466)tccfs	p.S1822fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1822					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGCGAGTGCTCCCGTGAGGA	0.697													2	4	---	---	---	---					
U3	0	broad.mit.edu	37	17	42102427	42102427	+	RNA	DEL	A	A	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:42102427delA	ENST00000408117.1	-	0	164																											ttcccgaaggaagaggagcag	0.557													2	4	---	---	---	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)atafs	p.I255fs	SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000598202.1_5'UTR			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													7	195	---	---	---	---					
ZC3H4	23211	broad.mit.edu	37	19	47569810	47569810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:47569810delC	ENST00000253048.5	-	15	3752	c.3715delG	c.(3715-3717)gagfs	p.E1239fs	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1239							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGCACCCTCGGGGGGTGGG	0.701													2	4	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													9	187	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938331	76938331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938331delT	ENST00000373344.5	-	9	2631	c.2417delA	c.(2416-2418)aagfs	p.K807fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	807					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.?(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)	TTGTCGTTTCTTTTTAGAAAT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						179	185	---	---	---	---					
