Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
THBS4	7060	broad.mit.edu	37	5	79354580	79354580	+	Silent	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:79354580C>T	uc021yaw.1	+	4	890	c.699C>T	c.(697-699)ctC>ctT	p.L233L		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	233					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAAACCAACTCCTGGGAGAGG	0.483000														66			5		0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44539816	44539816	+	Missense_Mutation	SNP	C	A	A	rs139898818	byFrequency	TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:44539816C>A	uc002xqm.2	-	1	770	c.235G>T	c.(235-237)Ggc>Tgc	p.G79C	PLTP_uc002xql.2_5'Flank|PLTP_uc010zxj.2_Missense_Mutation_p.G59C|PLTP_uc002xqq.2_Missense_Mutation_p.G28C|PLTP_uc002xqn.2_Missense_Mutation_p.G59C|PLTP_uc002xqo.2_Missense_Mutation_p.G59C	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	59					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TAGAAGTGGCCTTCTTTGCCC	0.617000														158			15		7.07596e-05	7.07596e-05	1	1	0
NSMAF	8439	broad.mit.edu	37	8	59511805	59511805	+	Missense_Mutation	SNP	A	C	C			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr8:59511805A>C	uc011lee.2	-	18	1725	c.1664T>G	c.(1663-1665)gTt>gGt	p.V555G	NSMAF_uc003xtt.3_Missense_Mutation_p.V524G	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	524	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGGGCCCCAACTGCATCACT	0.338000														192			24		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120797843	120797843	+	Missense_Mutation	SNP	T	A	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:120797843T>A	uc001ldu.3	-	19	3781	c.3635A>T	c.(3634-3636)gAt>gTt	p.D1212V	EIF3A_uc010qsu.2_Missense_Mutation_p.D1178V|EIF3A_uc009xzg.1_Missense_Mutation_p.D251V	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1212	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		atcttgattatctctgtccct	0.488000														179			8		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219491	67219491	+	Silent	SNP	G	A	A	rs78290792		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr11:67219491G>A	uc001olm.3	-	0	710	c.705C>T	c.(703-705)ttC>ttT	p.F235F	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	235						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACACGGGCGAAGCCCCGGC	0.662000														48			5		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798656	160798656	+	Missense_Mutation	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr2:160798656C>T	uc002ube.2	-	28	4371	c.4159G>A	c.(4159-4161)Gag>Aag	p.E1387K	PLA2R1_uc010zcp.2_Missense_Mutation_p.E1385K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1387					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGCAGCGCCTCTGCAGTGTGA	0.299000														65			7		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11217709	11217709	+	Silent	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr16:11217709C>T	uc021tcy.1	+	20	2609	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	CLEC16A_uc002dan.4_Silent_p.F775F|CLEC16A_uc002dao.3_Silent_p.F791F|CLEC16A_uc002dap.3_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	793								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGCCACCTTCATCTTCTCAG	0.602000														88			9		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022676	18022676	+	Missense_Mutation	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:18022676C>T	uc021trm.1	+	0	781	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	MYO15A_uc021trl.1_Missense_Mutation_p.R188W	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	188	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCGGCTCCGGAGGTTCCC	0.711000														44			25		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11872643	11872643	+	Silent	SNP	G	A	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:11872643G>A	uc002gne.3	+	68	13328	c.13260G>A	c.(13258-13260)ctG>ctA	p.L4420L	DNAH9_uc010coo.3_Silent_p.L3638L|DNAH9_uc002gnf.3_Silent_p.L732L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4420					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGCAAAGCTGAAGGATCTGA	0.512000														152			12		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66434551	66434551	+	Silent	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:66434551C>T	uc003dmx.3	-	13	1949	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Silent_p.E265E|LRIG1_uc003dmw.3_Silent_p.E311E|LRIG1_uc010hnz.3_Silent_p.E361E|LRIG1_uc010hoa.3_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	645	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCATGCGTCGCTCACGGGCAG	0.567000														176			11		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74084631	74084631	+	Missense_Mutation	SNP	T	C	C			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr17:74084631T>C	uc002jqs.3	-	10	1461	c.1366A>G	c.(1366-1368)Agc>Ggc	p.S456G	EXOC7_uc010dgv.2_Missense_Mutation_p.S352G|EXOC7_uc010wsv.2_Missense_Mutation_p.S364G|EXOC7_uc010wsw.2_Missense_Mutation_p.S428G|EXOC7_uc002jqq.3_Missense_Mutation_p.S405G|EXOC7_uc010wsx.2_Missense_Mutation_p.S397G|EXOC7_uc002jqr.3_Missense_Mutation_p.S374G	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	456					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCTTTGTGCTGGCAGCCGTG	0.597000														35			5		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048157	180048157	+	Missense_Mutation	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:180048157C>T	uc003mlz.4	-	13	2195	c.2116G>A	c.(2116-2118)Gcg>Acg	p.A706T	FLT4_uc003mma.4_Missense_Mutation_p.A706T|FLT4_uc003mmb.1_Missense_Mutation_p.A239T|FLT4_uc011dgy.2_Missense_Mutation_p.A706T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	706	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A706E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGCTGGGCGCGTGCGCTCCG	0.667000														80			7		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					71			34		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331451	42331451	+	Missense_Mutation	SNP	G	A	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr20:42331451G>A	uc002xlb.1	+	7	1488	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_uc010zwj.1_Missense_Mutation_p.E401K	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	425						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612000														98			13		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996442	140996442	+	Silent	SNP	A	G	G			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chrX:140996442A>G	uc004fbt.3	+	3	3576	c.3252A>G	c.(3250-3252)gtA>gtG	p.V1084V	MAGEC1_uc010nsl.2_Silent_p.V151V|MAGEC1_uc022cfi.1_Silent_p.V743V	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1084	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGAAAGTAGTAGAGTTTT	0.458000										HNSCC(15;0.026)				233			100		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21970200	21970200	+	Silent	SNP	G	A	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:21970200G>A	uc001rfh.3	-	30	3833	c.3813C>T	c.(3811-3813)gaC>gaT	p.D1271D	ABCC9_uc001rfi.1_Silent_p.D1271D	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1271	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGACCTCCAGGTCAGCCAAGT	0.368000														179			16		0	0	1	0	0
TTC9B	148014	broad.mit.edu	37	19	40722102	40722102	+	Missense_Mutation	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr19:40722102C>T	uc002onc.3	-	2	706	c.688G>A	c.(688-690)Gct>Act	p.A230T		NM_152479	NP_689692	Q8N6N2	TTC9B_HUMAN	Homo sapiens tetratricopeptide repeat domain 9B (TTC9B), mRNA.	230							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGGACCCAGCCCCACTGTCT	0.602000														148			10		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188364	7188364	+	Missense_Mutation	SNP	C	A	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr12:7188364C>A	uc010sfy.2	-	8	1415	c.1356G>T	c.(1354-1356)atG>atT	p.M452I		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	530					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCTAGCTTCATGAGCTCTT	0.567000														184			16		3.41278e-10	3.68581e-10	1	1	0
RYR2	6262	broad.mit.edu	37	1	237993860	237993860	+	Missense_Mutation	SNP	G	A	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr1:237993860G>A	uc001hyl.1	+	102	14806	c.14686G>A	c.(14686-14688)Gat>Aat	p.D4896N	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4896					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATAGGCAATGATTACTTCGA	0.423000														176			18		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587219	55587219	+	Missense_Mutation	SNP	G	A	A			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr10:55587219G>A	uc010qhy.1	-	32	4711	c.4316C>T	c.(4315-4317)gCg>gTg	p.A1439V	PCDH15_uc010qhq.2_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.2_Missense_Mutation_p.A1434V|PCDH15_uc021pqv.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqw.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.2_Missense_Mutation_p.A1441V|PCDH15_uc021pqx.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.A1434V|PCDH15_uc021pqz.1_Missense_Mutation_p.A1409V|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc001jju.1_Missense_Mutation_p.A1434V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1434	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.577000										HNSCC(58;0.16)				130			20		0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148889914	148889914	+	Silent	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr3:148889914C>T	uc003ewu.1	+	16	3060	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Silent_p.L809L|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	974						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGAACTAGAACTGAAGGATTT	0.343000									Hermansky-Pudlak syndrome					51			20		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501533	21501533	+	Missense_Mutation	SNP	A	G	G			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr18:21501533A>G	uc002kuq.3	+	61	8247	c.8161A>G	c.(8161-8163)Att>Gtt	p.I2721V	LAMA3_uc002kur.3_Missense_Mutation_p.I2665V|LAMA3_uc002kus.4_Missense_Mutation_p.I1112V|LAMA3_uc002kut.4_Missense_Mutation_p.I1056V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2721	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAATTCCAATTGCAATCAG	0.333000														121			9		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147863844	147863844	+	Missense_Mutation	SNP	G	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr5:147863844G>T	uc021yfj.1	-	5	1222	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	cttccttgcagtcaaacatcT	0.413000														38			11		3.86212e-05	4.01066e-05	1	1	0
F10	2159	broad.mit.edu	37	13	113803380	113803380	+	Missense_Mutation	SNP	C	T	T			TCGA-H2-A421-01A-11D-A23M-08	TCGA-H2-A421-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f73669e7-349b-4f1a-8818-c10f6d8bde28	145a6295-3c83-484f-861b-575fff8d3789	g.chr13:113803380C>T	uc001vsx.3	+	7	1073	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	339	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAACGTGGCGCCTGCCTGC	0.637000														118			47		0	0	1	0	0
