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
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													7	182					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104424	26104424	+	Silent	SNP	A	A	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:26104424A>T	uc003ngi.3	+	0	249	c.249A>T	c.(247-249)acA>acT	p.T83T		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	83					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAACTGTCACAGCCATGGATG	0.483000													17	63					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:7578272G>A	uc002gim.2	-	5	771	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_uc002gig.1_Missense_Mutation_p.H193Y|TP53_uc002gih.3_Missense_Mutation_p.H193Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61Y|TP53_uc010cnf.1_Missense_Mutation_p.H61Y|TP53_uc002gii.1_Missense_Mutation_p.H61Y|TP53_uc010cni.1_Missense_Mutation_p.H193Y|TP53_uc010cnh.1_Missense_Mutation_p.H193Y|TP53_uc002gij.2_Missense_Mutation_p.H193Y|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100Y|TP53_uc002gio.2_Missense_Mutation_p.H61Y|TP53_uc010vug.2_Missense_Mutation_p.H154Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(72)|p.Q192*(71)|p.H193Y(56)|p.H193L(35)|p.H193D(22)|p.H193P(14)|p.H193N(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61D(2)|p.H193_I195>AP(2)|p.H100D(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.H100Y(1)|p.Q192fs*56(1)|p.H61Y(1)|p.Q192del(1)|p.Q192fs*16(1)|p.Q192fs*30(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)		CGGATAAGATGCTGAGGAGGG	0.557000		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)			16	22					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10227588	10227588	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:10227588T>G	uc003jeo.2	-	4	696	c.667A>C	c.(667-669)Aca>Cca	p.T223P	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.T206P	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	223						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGCATCGATGTACAGGGCCTC	0.478000													8	53					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834840	27834840	+	Silent	SNP	C	C	A	rs139479440	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:27834840C>A	uc003njx.3	-	0	520	c.468G>T	c.(466-468)ccG>ccT	p.P156P		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	156					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TCGCCTTCTTCGGAGTCTTCT	0.602000													31	189					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97488687	97488687	+	Missense_Mutation	SNP	C	C	T	rs149193118		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:97488687C>T	uc003uot.4	-	4	1017	c.511G>A	c.(511-513)Gcg>Acg	p.A171T	ASNS_uc011kin.2_Missense_Mutation_p.A88T|ASNS_uc011kio.2_Missense_Mutation_p.A150T|ASNS_uc003uou.4_Missense_Mutation_p.A171T|ASNS_uc003uov.4_Missense_Mutation_p.A171T|ASNS_uc003uox.4_Missense_Mutation_p.A88T	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGGGAGTCGCGGAGTGCTTC	0.368000													13	36					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524043	55524043	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:55524043G>A	uc010spe.2	+	0	491	c.491G>A	c.(490-492)cGt>cAt	p.R164H		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R164G(1)|p.R164C(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGTCCACACGTCTGTGTACT	0.468000													34	108					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129453154	129453154	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:129453154C>T	uc011maa.2	+	2	373	c.366C>T	c.(364-366)atC>atT	p.I122I	LMX1B_uc004bqi.3_Silent_p.I122I|LMX1B_uc004bqj.3_Silent_p.I122I	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	99	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGGAGAAGATCGCCCCCACCG	0.647000									Nail-Patella Syndrome				15	24					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	9					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17320326	17320326	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:17320326C>A	uc001baa.2	-	15	1737	c.1547G>T	c.(1546-1548)gGc>gTc	p.G516V	ATP13A2_uc001bac.2_Missense_Mutation_p.G511V|ATP13A2_uc001bab.2_Missense_Mutation_p.G511V	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	516					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGTGAGGGTGCCCGTCTGTGG	0.692000													3	9					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2331468	2331468	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2331468C>T	uc002cpy.1	-	26	4790	c.4078G>A	c.(4078-4080)Gat>Aat	p.D1360N	ABCA3_uc010bsk.1_Missense_Mutation_p.D1302N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1360					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCGCTACATCTTGGTCCTCA	0.582000													10	98					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45003662	45003662	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:45003662C>T	uc003tmh.2	-	19	2875	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	MYO1G_uc003tmg.2_Missense_Mutation_p.V673M|MYO1G_uc010kym.2_Missense_Mutation_p.V796M	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	911						myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity	p.V911L(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCAAGGGGCACGGCCCGCATC	0.642000													3	11					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137717785	137717785	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:137717785T>A	uc004fam.3	-	3	1096	c.434A>T	c.(433-435)gAa>gTa	p.E145V	FGF13_uc004fan.3_Missense_Mutation_p.E92V|FGF13_uc011mwi.2_Missense_Mutation_p.E126V|FGF13_uc004faq.3_Missense_Mutation_p.E155V|FGF13_uc004far.3_Missense_Mutation_p.E126V|FGF13_uc011mwj.2_Missense_Mutation_p.E155V|FGF13_uc011mwk.2_Missense_Mutation_p.E99V	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	145					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAACACTGATTCTTTGAATTT	0.373000													14	35					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976102	44976102	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:44976102C>T	uc001wvn.3	-	0	398	c.89G>A	c.(88-90)cGt>cAt	p.R30H		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	30						cilium		p.R30H(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTACCAATACGATGGGTAGC	0.428000													22	115					0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124037229	124037229	+	Silent	SNP	G	G	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr8:124037229G>T	uc003ypl.2	-	2	613	c.327C>A	c.(325-327)atC>atA	p.I109I	DERL1_uc003ypm.2_Silent_p.I109I|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.I109I	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	109					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGATACCACGATGCAAATCC	0.383000													5	31					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128023	152128023	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:152128023C>A	uc001ezs.1	-	2	1617	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	518	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAACTCTGGCCTTGTCTGTCT	0.498000													379	665					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414201	19414201	+	RNA	SNP	G	G	C			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr13:19414201G>C	uc010tcj.1	-	0		c.31909C>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CAACTTCTTTGTTATATTGTT	0.318000													3	28					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643369	37643369	+	Silent	SNP	G	G	T	rs143272721	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:37643369G>T	uc002ofo.1	-	4	1663	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	ZNF585A_uc002ofm.1_Silent_p.R423R|ZNF585A_uc002ofn.1_Silent_p.R423R	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTTGACCGGTTGGTGAAT	0.403000													15	104					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:1420693G>A	uc003jck.3	-	5	1044	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	306					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAGACGCCTCGCAGAGCCGGT	0.592000													58	109					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51101951	51101951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:51101951G>A	uc001wyh.1	-	4	1440	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	368	SARAH.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTCTGCTTTCGGTTTTCCAAC	0.343000													23	34					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382933	68382933	+	Missense_Mutation	SNP	G	G	A	rs147196192		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:68382933G>A	uc022byl.1	-	0	149	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PJA1_uc004dxg.3_Missense_Mutation_p.T50M|PJA1_uc004dxh.3_Missense_Mutation_p.T50M|PJA1_uc004dxi.3_5'UTR|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	50							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCGGAGTTCGTCTTTCTCTG	0.537000													41	116					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91455346	91455346	+	Missense_Mutation	SNP	G	G	A	rs146996561		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr15:91455346G>A	uc010bnz.2	+	14	2298	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAN2A2_uc002bqc.3_Missense_Mutation_p.R728H|MAN2A2_uc010uql.2_Missense_Mutation_p.R390H|MAN2A2_uc010uqm.2_Missense_Mutation_p.R307H|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	728					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGGCACCGCACGCTGCCC	0.667000													56	58					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413662	68413662	+	RNA	SNP	C	C	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:68413662C>G	uc004aex.3	+	0		c.217C>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ACGAGAGCCCCGGCTCCTGGA	0.637000													3	20					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117067469	117067469	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:117067469C>T	uc003vjb.2	-	0	109	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ASZ1_uc011kno.1_Missense_Mutation_p.E16K|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	16					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.E16K(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCGCTACTCTCGCCTCCGCCA	0.667000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	79					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474960	50474960	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:50474960C>G	uc010ybk.1	+	1	120	c.14C>G	c.(13-15)gCa>gGa	p.A5G	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.									p.A337G(1)|p.A299G(1)		endometrium(2)|kidney(2)|lung(6)	10						GTTTCCCAAGCAAACAGGACA	0.597000													8	137					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100403882	100403882	+	Silent	SNP	T	T	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:100403882T>A	uc004axq.3	+	2	621	c.162T>A	c.(160-162)gcT>gcA	p.A54A		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	54	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAGGCTTGGCTGGTGTTTTGG	0.373000													33	69					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29687566	29687566	+	Missense_Mutation	SNP	C	C	G	rs144178015		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:29687566C>G	uc002hgg.3	+	56	8605	c.8222C>G	c.(8221-8223)aCg>aGg	p.T2741R	NF1_uc002hgh.3_Missense_Mutation_p.T2720R|NF1_uc010cso.3_Missense_Mutation_p.T929R|NF1_uc010wbt.1_Missense_Mutation_p.T219R|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2741					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGATTGACACGTACCTGCCT	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	143					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184019846	184019846	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:184019846C>G	uc003fnn.1	+	4	724	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	PSMD2_uc011brj.1_Missense_Mutation_p.L72V|PSMD2_uc011brk.1_Missense_Mutation_p.L101V	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AAAGGTCTGCCTTTATCTCAC	0.507000													33	54					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76571563	76571563	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr4:76571563A>G	uc003hir.3	-	10	1300	c.1135T>C	c.(1135-1137)Ttt>Ctt	p.F379L	G3BP2_uc003his.3_Missense_Mutation_p.F379L|G3BP2_uc003hit.3_Missense_Mutation_p.F346L	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	379	RRM.				Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGTCATCAAAAACCACAAAA	0.328000													19	137					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29856427	29856427	+	Missense_Mutation	SNP	G	G	T	rs112476351	by1000genomes	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:29856427G>T	uc010jro.3	+	2	679	c.533G>T	c.(532-534)cGg>cTg	p.R178L	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Missense_Mutation_p.R176L|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	176	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCGGCCCGTCGGGCGGAGCAG	0.667000													4	42					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23292319	23292319	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr10:23292319C>T	uc001irm.4	+	12	1790	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_uc010qcv.2_Silent_p.N569N|ARMC3_uc010qcw.2_Silent_p.N306N	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	569							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323000													19	95					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21757423	21757423	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:21757423G>A	uc003svc.3	+	43	7066	c.7035G>A	c.(7033-7035)cgG>cgA	p.R2345R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2345	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGAAGGCGGCATCAATCAG	0.378000									Kartagener syndrome				9	45					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:195511815G>A	uc021xjp.1	-	1	6792	c.6636C>T	c.(6634-6636)acC>acT	p.T2212T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1001					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2212T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602000													3	11					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511911	195511911	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:195511911G>A	uc021xjp.1	-	1	6696	c.6540C>T	c.(6538-6540)acC>acT	p.T2180T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	959					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2180T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.587000													3	6					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197274	81197274	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:81197274G>A	uc002fgh.1	-	20	3408	c.3408C>T	c.(3406-3408)gtC>gtT	p.V1136V	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1136					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGAGGCCACCGACAGTCCCGC	0.532000													5	12					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56492632	56492632	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56492632G>A	uc001sjh.3	+	22	3058	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Missense_Mutation_p.E285K|ERBB3_uc010sqc.2_Missense_Mutation_p.E869K|ERBB3_uc009zok.3_Missense_Mutation_p.E193K|ERBB3_uc001sjk.3_Missense_Mutation_p.E169K|ERBB3_uc001sjl.3_Missense_Mutation_p.E48K	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	928	Protein kinase.				Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAGAAGGGGGAGCGGTTGGC	0.512000													50	138					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56478854G>A	uc001sjh.3	+	2	586	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.V45M|ERBB3_uc001sjg.3_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(8)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													75	161					0	0	1	0	0
LOC100286793	100286793	broad.mit.edu	37	1	143744418	143744418	+	RNA	SNP	C	C	T	rs71661951		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:143744418C>T	uc001ejp.3	-	0		c.170G>A			LOC100286793_uc001ejr.4_Non-coding_Transcript|LOC100286793_uc009whx.2_Non-coding_Transcript|LOC100286793_uc009why.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100286793 (LOC100286793), non-coding RNA.																		CAAGTGGTTTCGGAAGTGATC	0.567000													3	22					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29343055	29343055	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:29343055C>T	uc003nme.3	-	0	14	c.10G>A	c.(10-12)Gtc>Atc	p.V4I		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ATTGTAGTGACATTCTCCATT	0.328000													16	34					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738843	176738843	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:176738843C>A	uc001gkz.3	+	15	5588	c.4424C>A	c.(4423-4425)gCa>gAa	p.A1475E	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1475	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGAACTATGCAAACTTCTCC	0.517000													38	73					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809452	18809452	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:18809452C>T	uc001bax.3	+	0	2029	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A	KLHDC7A_uc009vpg.3_Silent_p.A441A	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	659						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGTGGGCCGGCCCCACCG	0.682000													18	21					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499131	103499131	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:103499131G>A	uc004ely.3	-	1	279	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	70					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D70D(2)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTCTTGGTCGTCCGAGGGGA	0.652000													6	246					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216299	111216299	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:111216299G>A	uc001dzv.1	-	0	1357	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	378						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGTGGCGCGACAGCTTGAA	0.592000													68	144					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413654	68413654	+	RNA	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:68413654G>A	uc004aex.3	+	0		c.209G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GAGTGCAGACGAGAGCCCCGG	0.642000													3	18					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197184313	197184313	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr2:197184313G>A	uc002utm.1	-	8	1484	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	HECW2_uc002utl.1_Missense_Mutation_p.A78V	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	434					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGCAGGTCGCTGTCCCCGG	0.502000													26	65					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812318	2812318	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2812318A>G	uc002crk.3	+	10	2338	c.1789A>G	c.(1789-1791)Aga>Gga	p.R597G	SRRM2_uc002crj.1_Missense_Mutation_p.R501G|SRRM2_uc002crl.1_Missense_Mutation_p.R597G|SRRM2_uc010bsu.1_Missense_Mutation_p.R501G	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	597	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCACGATCCAGAACTCCCAC	0.617000													23	57					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30293184	30293184	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:30293184G>A	uc002hgs.2	+	4	696	c.474G>A	c.(472-474)caG>caA	p.Q158Q	SUZ12_uc002hgt.2_Silent_p.Q135Q	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	158					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTCATTTGCAGCTTACGTTTA	0.269000			T	JAZF1	endometrial stromal tumours								3	11					0	0	1	0	0
TTC34	100287898	broad.mit.edu	37	1	2576888	2576888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:2576888delG	uc021oey.1	-	4	876	c.802delC	c.(802-804)cacfs	p.H268fs		NM_001242672	NP_001229601	A8MYJ7	TTC34_HUMAN	Homo sapiens tetratricopeptide repeat domain 34 (TTC34), mRNA.	268							binding										GCCCGGCAGTGGGAGTAGAGG	0.652													2	4	---	---	---	---					
OR1C1	26188	broad.mit.edu	37	1	247921040	247921042	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:247921040_247921042delGGA	uc010pza.2	-	0	667_669	c.667_669delTCC	c.(667-669)tccdel	p.S223del		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCAGAACAGTGGAGAAGATAAGT	0.493													53	52	---	---	---	---					
