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
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			11	5					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102988461	102988461	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:102988461C>G	ENST00000409599.1	+	5	707	c.351C>G	c.(349-351)caC>caG	p.H117Q	IL18R1_ENST00000334376.3_Missense_Mutation_p.H117Q|IL18R1_ENST00000233957.1_Missense_Mutation_p.H117Q			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	117	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAATAAACACAGCTGTTTCA	0.284000													6	68					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211343	78211343	+	RNA	SNP	G	G	A	rs71211222		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:78211343G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGCTCCTGTAGCATCTTCTGC	0.582000													35	65					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76889115	76889115	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889115A>G	ENST00000373344.5	-	18	5109	c.4895T>C	c.(4894-4896)tTg>tCg	p.L1632S	ATRX_ENST00000395603.3_Missense_Mutation_p.L1594S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1632	Helicase ATP-binding.			L -> F (in Ref. 7; AAC50069).	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)	CATCCAATTCAAAGCAGTATT	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	30					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237660042	237660042	+	Silent	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:237660042T>C	ENST00000366574.2	+	20	2510	c.2193T>C	c.(2191-2193)caT>caC	p.H731H	RYR2_ENST00000360064.6_Silent_p.H729H|RYR2_ENST00000542537.1_Silent_p.H715H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	731	B30.2/SPRY 1.				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)			ATGGCCTTCATCTCTGGTCAG	0.473000													4	141					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259857	215259857	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:215259857A>G	ENST00000444842.2	+	2	343	c.193A>G	c.(193-195)Ata>Gta	p.I65V	KCNK2_ENST00000391895.2_Missense_Mutation_p.I61V|KCNK2_ENST00000391894.2_Missense_Mutation_p.I50V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	65							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GGTCTCCACGATATTCCTGGT	0.502000													3	38					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563045	32563045	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:32563045A>C	ENST00000345122.3	+	2	3485	c.3170A>C	c.(3169-3171)aAc>aCc	p.N1057T	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1057					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTCGATCCAAACCTTTTAAAA	0.408000													11	66					0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024544	5024544	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:5024544G>A	ENST00000256495.3	+	5	1009	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	136						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAGAAATGTCGAAACAGGTCA	0.507000													21	160					0	0	1	0	0
FAM127C	441518	broad.mit.edu	37	X	134156373	134156373	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:134156373C>T	ENST00000391440.1	-	1	186	c.117G>A	c.(115-117)cgG>cgA	p.R39R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	39										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTCCGGGAGCCGGTCGGTAT	0.632000													27	30					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52891127	52891127	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:52891127A>G	ENST00000371544.3	-	29	5023	c.4761T>C	c.(4759-4761)cgT>cgC	p.R1587R	ZCCHC11_ENST00000257177.4_Silent_p.R1588R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1587	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAAATGGGGACGCGGTGCAT	0.463000													6	39					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74087264	74087264	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:74087264C>T	ENST00000394070.2	+	9	1707	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Missense_Mutation_p.P402S|STAMBP_ENST00000339566.3_Missense_Mutation_p.P402S|STAMBP_ENST00000409707.1_Missense_Mutation_p.P402S	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	402					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CAGCAAGGATCCACCTCTGTT	0.413000													4	55					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20638625	20638625	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:20638625T>C	ENST00000219151.4	-	11	1476	c.266A>G	c.(265-267)aAg>aGg	p.K89R	ACSM1_ENST00000307493.4_Missense_Mutation_p.K438R|ACSM1_ENST00000520010.1_Missense_Mutation_p.K438R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	438					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTTAGCTGTCTTCTCTGGGTC	0.473000													41	306					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32087599	32087599	+	Splice_Site	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:32087599A>G	ENST00000375201.4	-	9	1003		c.e9+1		ATF6B_ENST00000375203.3_Splice_Site			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CCCAACACTTACATCCACTTC	0.582000													8	36					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913927	32913927	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:32913927A>G	ENST00000544455.1	+	11	5662	c.5435A>G	c.(5434-5436)gAa>gGa	p.E1812G	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1812G	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1812					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCGTTGAGGAACTTGTGACT	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			13	86					0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37314666	37314666	+	Silent	SNP	T	T	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:37314666T>G	ENST00000356725.4	-	3	156	c.36A>C	c.(34-36)gtA>gtC	p.V12V	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAGAAATCTACAGCCACAT	0.393000													5	65					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7614301	7614301	+	Missense_Mutation	SNP	C	C	T	rs141124086	by1000genomes	TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:7614301C>T	ENST00000397145.2	-	12	2198	c.2093G>A	c.(2092-2094)aGc>aAc	p.S698N	ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	0					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCCAGGATGCTGGCAAAAGG	0.388000													6	60					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24169196	24169196	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:24169196A>C	ENST00000396671.2	-	10	1286	c.938T>G	c.(937-939)aTg>aGg	p.M313R	THRB_ENST00000416420.1_Missense_Mutation_p.M313R|THRB_ENST00000356447.4_Missense_Mutation_p.M313R|THRB_ENST00000280696.5_Missense_Mutation_p.M328R	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	313	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCGAAGGGACATGATCTCCAT	0.493000													25	59					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144457813	144457813	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr8:144457813C>T	ENST00000289013.6	+	2	252	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	51					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGCAGATGCGGACGGGCGC	0.672000													9	36					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24664502	24664502	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:24664502C>T	ENST00000361548.4	+	7	1091	c.861C>T	c.(859-861)ttC>ttT	p.F287F	GRHL3_ENST00000356046.2_Silent_p.F241F|GRHL3_ENST00000350501.5_Silent_p.F287F|GRHL3_ENST00000342072.4_Silent_p.F194F|GRHL3_ENST00000236255.4_Silent_p.F292F	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	287					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGGTTGTCTTCGACAATGAGA	0.572000													7	71					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109827629	109827629	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:109827629C>G	ENST00000424296.2	-	35	4826	c.4750G>C	c.(4750-4752)Gat>Cat	p.D1584H	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TGAAATCCATCAATCACATAC	0.348000													5	70					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38990562	38990562	+	Missense_Mutation	SNP	C	C	T	rs145787667		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:38990562C>T	ENST00000355481.4	+	45	7360	c.7229C>T	c.(7228-7230)cCg>cTg	p.P2410L	RYR1_ENST00000359596.3_Missense_Mutation_p.P2410L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2410L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2410	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGAGGAACCGCCTGAAGAA	0.632000													5	22					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36125042	36125042	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:36125042C>G	ENST00000258840.6	-	29	4480	c.4090G>C	c.(4090-4092)Gct>Cct	p.A1364P	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1317P|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1330P|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1317P			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1317	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACATTCAGAGCTTCCTTAATT	0.318000													10	124					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48443720	48443720	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:48443720C>A	ENST00000324324.7	-	13	1535	c.1256G>T	c.(1255-1257)cGt>cTt	p.R419L	MYEF2_ENST00000267836.6_Missense_Mutation_p.R419L	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	419	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AATATCACCACGTCCAAAATC	0.383000													17	134					7.45023e-12	7.94691e-12	1	1	0
LRP2	4036	broad.mit.edu	37	2	170068530	170068530	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:170068530A>G	ENST00000263816.3	-	37	6513	c.6228T>C	c.(6226-6228)ttT>ttC	p.F2076F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2076					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTCCAAGCTAAAGCCTCTGA	0.453000													39	75					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466139	179466139	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:179466139C>G	ENST00000589042.1	-	287	55809	c.55585G>C	c.(55585-55587)Gtc>Ctc	p.V18529L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9589L|TTN_ENST00000342992.6_Missense_Mutation_p.V15961L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9464L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16888L|TTN_ENST00000342175.6_Missense_Mutation_p.V9656L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16888							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGATTGACTTTGGTCCAG	0.458000													10	45					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70526300	70526300	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr18:70526300C>A	ENST00000327305.6	-	4	887	c.230G>T	c.(229-231)aGa>aTa	p.R77I	NETO1_ENST00000583169.1_Missense_Mutation_p.R77I|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.R76I|NETO1_ENST00000299430.2_Missense_Mutation_p.R76I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	77	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATGCACTGTCTTGGAGCGGC	0.368000													14	86					0.000566183	0.00057335	1	1	0
ZNF304	57343	broad.mit.edu	37	19	57868714	57868714	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:57868714C>A	ENST00000391705.3	+	4	1761	c.1477C>A	c.(1477-1479)Cac>Aac	p.H493N	ZNF304_ENST00000282286.5_Missense_Mutation_p.H493N|ZNF304_ENST00000443917.2_Missense_Mutation_p.H540N|ZNF304_ENST00000598744.1_Missense_Mutation_p.H451N	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACTTGTGCAACACCAAAAAAT	0.453000													5	53					3.59834e-05	3.6906e-05	1	1	0
SETD2	29072	broad.mit.edu	37	3	47125722	47125722	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:47125722G>A	ENST00000409792.3	-	12	5590	c.5548C>T	c.(5548-5550)Cgt>Tgt	p.R1850C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATGAGCACGCGATGTATTC	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								4	42					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480240	96480240	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:96480240A>G	ENST00000285979.6	+	6	1106	c.907A>G	c.(907-909)Agc>Ggc	p.S303G	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.S244G	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGAGACAACGAGCACCACTCT	0.423000													7	55					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45132715	45132715	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:45132715C>A	ENST00000296129.1	-	7	2077	c.1943G>T	c.(1942-1944)gGc>gTc	p.G648V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	648						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TAGCTGCTTGCCGCTCGTGGG	0.547000													11	67					1.58986e-06	1.65181e-06	1	1	0
RBM47	54502	broad.mit.edu	37	4	40434728	40434728	+	Silent	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:40434728G>A	ENST00000319592.4	-	5	1984	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	RBM47_ENST00000514014.1_Silent_p.A456A|RBM47_ENST00000381795.6_Silent_p.A425A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381793.2_Silent_p.A494A|RBM47_ENST00000295971.7_Silent_p.A494A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	494						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ctgcggccgcggctgcggcgg	0.577000													3	46					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76889175	76889175	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889175A>G	ENST00000373344.5	-	18	5049	c.4835T>C	c.(4834-4836)cTt>cCt	p.L1612P	ATRX_ENST00000395603.3_Missense_Mutation_p.L1574P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1612	Helicase ATP-binding.				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)	GTCACACAAAAGAACTGTATG	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						10	19					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2473382	2473382	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr20:2473382T>G	ENST00000278772.4	-	5	754	c.267A>C	c.(265-267)gaA>gaC	p.E89D	ZNF343_ENST00000358413.2_Missense_Mutation_p.E89D|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E89D|ZNF343_ENST00000381253.1_Missense_Mutation_p.E89D	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CCAGCATCACTTCTTTGTATA	0.403000													13	96					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2559863	2559863	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:2559863A>G	ENST00000222725.5	+	1	388	c.368A>G	c.(367-369)aAa>aGa	p.K123R	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000338732.3_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.K123R|LFNG_ENST00000402506.1_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	123					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AAGACCACCAAAAAGTTCCAC	0.751000													4	35					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			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								8	53					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65236307	65236307	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:65236307C>T	ENST00000389722.3	-	27	5991		c.e27+1		SPTB_ENST00000542895.1_Splice_Site|SPTB_ENST00000389721.5_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000556626.1_Splice_Site	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGTCCCCTCACCTCCTCTGAG	0.627000													4	34					0	0	1	0	0
CTSL3P	0	broad.mit.edu	37	9	90388505	90388505	+	RNA	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:90388505T>C	ENST00000354530.2	+	0	371					NR_027917.1																						GCTTCCAGTATGTTGCCGACA	0.453000													4	75					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16973733	16973733	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:16973733C>T	ENST00000379803.1	+	10	1319	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	SIN3B_ENST00000248054.5_Intron	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	435	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGGACAGACGATTACTGCA	0.537000													45	230					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38060667	38060667	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:38060667C>G	ENST00000250448.2	-	2	1383	c.1322G>C	c.(1321-1323)aGc>aCc	p.S441T	FOXA1_ENST00000540786.1_Missense_Mutation_p.S408T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	441					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CACCGAGGCGCTGCCTAGAGG	0.602000													5	45					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55962466	55962466	+	Silent	SNP	G	G	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:55962466G>C	ENST00000263923.4	-	19	2953	c.2658C>G	c.(2656-2658)ctC>ctG	p.L886L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	886	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGGATCTTGAGTTCAGACA	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			15	110					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21147795	21147795	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:21147795T>A	ENST00000261383.3	-	6	735	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.M246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	246	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGCAATCATGTCTTTGCGA	0.473000													10	83					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27664086	27664086	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:27664086T>C	ENST00000282344.6	-	6	924	c.668A>G	c.(667-669)gAa>gGa	p.E223G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	223					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GCACAGAGTTTCTGTGTTGCT	0.323000													7	71					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77075619	77075619	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:77075619G>T	ENST00000579016.1	+	4	465	c.465G>T	c.(463-465)tgG>tgT	p.W155C	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	155						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTACCACTGGCAGTGCATCG	0.582000													34	89					5.71845e-15	6.2668e-15	1	1	0
IRF1	3659	broad.mit.edu	37	5	131822746	131822746	+	Silent	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:131822746C>A	ENST00000245414.4	-	4	522	c.264G>T	c.(262-264)ctG>ctT	p.L88L	IRF1_ENST00000405885.2_Silent_p.L88L|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	88					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CGATATCTGGCAGGGAGTTCA	0.542000													5	312					0.014758	0.014758	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34148669	34148669	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:34148669C>T	ENST00000346193.3	-	1	1778	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	576								p.R576Q(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512000													3	14					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9000752	9000752	+	Missense_Mutation	SNP	G	G	A	rs139368884		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:9000752G>A	ENST00000305997.3	-	12	1526	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	443					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTGTAAAACGTGAGTGATGG	0.313000													5	52					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101257376	101257376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:101257376C>A	ENST00000342624.5	-	19	2413	c.2155G>T	c.(2155-2157)Gga>Tga	p.G719*	TMTC4_ENST00000376234.3_Nonsense_Mutation_p.G700*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.G589*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	700						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTAGATGTCCCCAACGATGA	0.448000													14	100					4.3838e-07	4.61453e-07	1	1	0
GUF1	60558	broad.mit.edu	37	4	44684369	44684369	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:44684369G>C	ENST00000281543.5	+	5	720	c.526G>C	c.(526-528)Gta>Cta	p.V176L	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	176					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCCCAAACTGTAGCAAACTT	0.328000													32	123					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs143747399	by1000genomes	TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433000													4	33					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112638298	112638298	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:112638298C>G	ENST00000341068.3	-	2	877	c.105G>C	c.(103-105)ttG>ttC	p.L35F	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGAAGGTTCAAAGCATTAG	0.488000													6	37					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325478	152325478	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:152325478C>T	ENST00000388718.5	-	3	4856	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512000													77	136					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235249	73235249	+	Silent	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:73235249T>C	ENST00000377110.2	-	15	2079	c.1836A>G	c.(1834-1836)acA>acG	p.T612T	TRPM3_ENST00000377105.1_Silent_p.T471T|TRPM3_ENST00000377106.1_Silent_p.T484T|TRPM3_ENST00000408909.2_Silent_p.T471T|TRPM3_ENST00000396292.4_Silent_p.T484T|TRPM3_ENST00000377111.2_Silent_p.T612T|TRPM3_ENST00000396285.1_Silent_p.T459T|TRPM3_ENST00000396280.5_Silent_p.T461T|TRPM3_ENST00000358082.3_Silent_p.T474T|TRPM3_ENST00000360823.2_Silent_p.T474T|TRPM3_ENST00000357533.2_Silent_p.T616T|TRPM3_ENST00000423814.3_Silent_p.T639T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	637						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTTCTTGGTTGTCTTTCTTC	0.448000													21	207					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													4	2					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719820	160719820	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:160719820G>A	ENST00000368043.3	+	3	623	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLAMF7_ENST00000359331.4_Missense_Mutation_p.V196I|SLAMF7_ENST00000458104.2_Missense_Mutation_p.V89I|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.V89I|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.V89I	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	196	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTCATCTGCGTTGCCAGGAA	0.567000													10	72					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506570	48506570	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:48506570T>C	ENST00000435803.1	+	44	12857	c.12833T>C	c.(12832-12834)tTg>tCg	p.L4278S	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4278					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGCGACAACTTGGACCTCACC	0.498000													4	84					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111674063	111674063	+	Silent	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:111674063C>T	ENST00000286692.4	-	3	731	c.114G>A	c.(112-114)ccG>ccA	p.P38P	DRAM2_ENST00000539140.1_Silent_p.P38P|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	38					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						AAGGTAAAGCCGGGTCTATAT	0.368000													27	84					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120204	21120204	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:21120204A>C	ENST00000377122.4	-	16	1988	c.1592T>G	c.(1591-1593)aTt>aGt	p.I531S	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	531					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTCCCTTTAATTTCATTTTC	0.353000													7	68					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712478	247712478	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:247712478G>A	ENST00000366490.3	+	4	505	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000527084.1_Intron					germinal center-associated, signaling and motility-like																		CTGAGAAACCGAGTCACTGTG	0.488000													5	50					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147217	145147217	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:145147217C>G	ENST00000558170.2	-	10	4630	c.3446G>C	c.(3445-3447)gGg>gCg	p.G1149A	ZEB2_ENST00000539609.3_Missense_Mutation_p.G1125A|ZEB2_ENST00000409487.3_Missense_Mutation_p.G1149A|ZEB2_ENST00000303660.4_Missense_Mutation_p.G1149A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1149	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCCCAGCTTCCCGTAGCCATC	0.537000													12	109					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33687643	33687643	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:33687643C>G	ENST00000253193.7	+	2	283	c.81C>G	c.(79-81)atC>atG	p.I27M	LRP3_ENST00000592484.1_3'UTR	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	27					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGTGAACATCTTTCTCACCG	0.552000													9	47					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392715	89392715	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:89392715A>G	ENST00000439576.2	+	10	2153	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	ACAN_ENST00000558207.1_Silent_p.E593E|ACAN_ENST00000561243.1_Silent_p.E593E|ACAN_ENST00000559004.1_Silent_p.E593E|ACAN_ENST00000352105.7_Silent_p.E593E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	593					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTCCAGGAAGCACTGGAGT	0.632000													4	10					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540057	28540057	+	Silent	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:28540057A>G	ENST00000452236.2	-	4	4226	c.3609T>C	c.(3607-3609)aaT>aaC	p.N1203N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1203					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ggatccacaaatttcctatgc	0.323000													3	14					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274971	29274971	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:29274971A>G	ENST00000377160.2	+	1	569	c.505A>G	c.(505-507)Aag>Gag	p.K169E		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCTCTGTGGGAAGAGAGTCAT	0.483000													12	75					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73738764	73738764	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:73738764G>T	ENST00000200181.3	+	25	3071	c.2884G>T	c.(2884-2886)Gtg>Ttg	p.V962L	ITGB4_ENST00000579662.1_Missense_Mutation_p.V962L|ITGB4_ENST00000450894.3_Missense_Mutation_p.V962L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V962L|ITGB4_ENST00000339591.3_Missense_Mutation_p.V962L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	962					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCTGCTGGTGGAGGCCAT	0.657000													7	52					6.5536e-12	7.08497e-12	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25770634	25770634	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:25770634A>C	ENST00000377905.4	+	5	673	c.554A>C	c.(553-555)tAt>tCt	p.Y185S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	185					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACTGGTCAGTATTCAATTTGG	0.438000													9	104					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141767161	141767161	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:141767161C>T	ENST00000475668.2	+	42	4994	c.4940C>T	c.(4939-4941)aCa>aTa	p.T1647I	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1647	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAGGTGACATGGGACATA	0.582000													9	26					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41727878	41727878	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:41727878C>T	ENST00000301178.4	+	4	693	c.503C>T	c.(502-504)cCc>cTc	p.P168L	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.P168L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	168	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCCCCAGAGCCCGTGGACCTA	0.662000													3	6					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31901509	31901509	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:31901509C>T	ENST00000456570.1	+	3	434	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	C2_ENST00000418949.2_Missense_Mutation_p.R189W|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R189W|C2_ENST00000442278.2_Missense_Mutation_p.R57W|CFB_ENST00000556679.1_Missense_Mutation_p.R127W|C2_ENST00000452323.2_Missense_Mutation_p.R66W|C2_ENST00000469372.1_Silent_p.S20S			P00751	CFAB_HUMAN	complement factor B	203	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTCTTCGGAGCGGGAGTGCCA	0.642000													6	45					0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777528	56777528	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:56777528C>T	ENST00000423391.1	-	1	1108	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	336						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AGAATACTTCCGCTCTGGGGG	0.517000													5	57					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
SLC15A3	51296	broad.mit.edu	37	11	60714213	60714214	+	Frame_Shift_Ins	INS	-	-	GACA	rs149019885		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr11:60714213_60714214insGACA	ENST00000227880.3	-	2	871_872	c.638_639insTGTC	c.(637-639)tctfs	p.-212fs		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3						oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCACCAGCAGCGACAGCACAGC	0.569													9	165	---	---	---	---					
INTS6	26512	broad.mit.edu	37	13	51953635	51953638	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:51953635_51953638delTAAC	ENST00000311234.4	-	11	1818_1821	c.1346_1349delGTTA	c.(1345-1350)acfs	p.SY449fs	INTS6_ENST00000398119.2_Frame_Shift_Del_p.SY436fs|INTS6_ENST00000490542.1_Frame_Shift_Del_p.SY133fs|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000425000.1_Frame_Shift_Del_p.SY17fs|INTS6_ENST00000497989.1_Frame_Shift_Del_p.SY271fs	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	449					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AATGACACTGTAACTAAGTCCATA	0.353													8	114	---	---	---	---