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
SFRP2	6423	broad.mit.edu	37	4	154709579	154709579	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:154709579G>A	ENST00000274063.4	-	1	693	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCATGTCGGGCCAGGGGAAG	0.647000													13	19					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30054372	30054372	+	Silent	SNP	T	T	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:30054372T>C	ENST00000222803.5	-	4	790	c.615A>G	c.(613-615)acA>acG	p.T205T	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	205	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CGTGTTTATATGTAAATTCTC	0.338000													11	19					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166465	151166465	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:151166465G>T	ENST00000282466.3	-	4	1303	c.1304C>A	c.(1303-1305)tCc>tAc	p.S435Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	435					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCTGCAAGGAAATTTGGTC	0.438000													9	38					0.0477658	0.0477658	1	1	0
EP400	57634	broad.mit.edu	37	12	132530428	132530428	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:132530428C>A	ENST00000333577.4	+	40	7400	c.7291C>A	c.(7291-7293)Cca>Aca	p.P2431T	EP400_ENST00000330386.6_Missense_Mutation_p.P2314T|EP400_ENST00000332482.4_Missense_Mutation_p.P2358T|EP400_ENST00000389561.2_Missense_Mutation_p.P2395T|EP400_ENST00000389562.2_Missense_Mutation_p.P2394T			Q96L91	EP400_HUMAN	E1A binding protein p400	2431					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGTCATCATTCCACGAGAGGA	0.542000													4	15					2.56e-06	2.89574e-06	1	1	0
DUOX1	53905	broad.mit.edu	37	15	45457064	45457064	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr15:45457064C>T	ENST00000321429.4	+	35	5028	c.4621C>T	c.(4621-4623)Cgg>Tgg	p.R1541W	DUOX1_ENST00000561166.1_Missense_Mutation_p.R1187W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1541W|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1541					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCAGGACCGGACTCACTT	0.587000													36	60					0	0	1	0	0
SLC9A7P1	0	broad.mit.edu	37	12	98848707	98848707	+	RNA	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:98848707C>T	ENST00000554295.1	-	0	2216					NR_033801.1																						TCGAAACCTTCTGGTTTCCCA	0.562000													3	5					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25254068	25254068	+	Silent	SNP	G	G	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:25254068G>T	ENST00000399916.1	-	3	916	c.478C>A	c.(478-480)Cga>Aga	p.R160R	RUNX3_ENST00000308873.6_Silent_p.R146R|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.R53R|RUNX3_ENST00000338888.3_Silent_p.R160R	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	146	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CACTTACCTCGCCCACTGCGG	0.587000													24	41					1.66031e-10	1.94171e-10	1	1	0
CPN1	1369	broad.mit.edu	37	10	101835691	101835691	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr10:101835691C>T	ENST00000370418.3	-	2	648	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	133	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACCTCGTAGCCGTCGGGGTTC	0.577000													6	21					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11240197	11240197	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:11240197G>A	ENST00000558518.1	+	17	2585	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	LDLR_ENST00000545707.1_Missense_Mutation_p.V622I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.V800I|LDLR_ENST00000557933.1_Silent_p.S820S|LDLR_ENST00000535915.1_Missense_Mutation_p.V759I|LDLR_ENST00000455727.2_Missense_Mutation_p.V632I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	800			Missing (in FH; Danish patient).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AGTGCTCCTCGTCTTCCTTTG	0.547000													4	51					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136594988	136594988	+	Splice_Site	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136594988C>T	ENST00000371872.4	-	6	1072		c.e6-1		SARDH_ENST00000298628.5_Splice_Site|SARDH_ENST00000371867.1_Splice_Site|SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000439388.1_Splice_Site	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCCACACTCCTGCGGGCAGA	0.637000													4	20					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577000			T	ETV4	prostate								5	258					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1086413	1086413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr11:1086413C>T	ENST00000441003.2	+	23	3149	c.3122C>T	c.(3121-3123)cCg>cTg	p.P1041L	MUC2_ENST00000359061.5_Missense_Mutation_p.P1041L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1041	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCCTGAACCCGCACCGCCGC	0.657000													4	7					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295693	212295693	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:212295693C>T	ENST00000342788.4	-	21	2930	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	ERBB4_ENST00000436443.1_Missense_Mutation_p.E874K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E864K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	874	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCATTGTACTCTTTTTCATCT	0.373000										TSP Lung(8;0.080)			35	59					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056396	7056396	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:7056396G>A	ENST00000310074.7	+	2	1067	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	TADA2B_ENST00000512388.1_Missense_Mutation_p.R218Q|TADA2B_ENST00000515646.1_Missense_Mutation_p.R201Q	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAACTGCAGCGGTACCGGCGA	0.522000													6	14					0	0	1	0	0
PCDHA4	0	broad.mit.edu	37	5	140188233	140188233	+	Silent	SNP	C	C	T	rs139246893		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr5:140188233C>T	ENST00000530339.1	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N487N|PCDHA4_ENST00000356878.4_Silent_p.N487N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1												p.N487N(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657000													8	55					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165488	51165488	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:51165488G>A	ENST00000293441.1	-	23	6238	c.6220C>T	c.(6220-6222)Cgc>Tgc	p.R2074C	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2074					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGAGGGAGCGCGAGGCCCCT	0.682000													7	16					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811518	156811518	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:156811518C>T	ENST00000368195.3	-	20	3862	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1156	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATCCAGCGCACGGGCAGCAGC	0.617000													16	32					0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130494342	130494342	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:130494342C>T	ENST00000373284.5	-	5	983	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000336067.6_3'UTR	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	313					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						CGGGAGGCCACGGTCTTGCAG	0.627000													43	40					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567459	136567459	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:136567459C>T	ENST00000264162.2	-	8	2468	c.2458G>A	c.(2458-2460)Gtc>Atc	p.V820I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	820	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGAAGTTGACGTGGTGCAGG	0.507000													5	72					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85674179	85674179	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:85674179G>A	ENST00000316824.3	+	1	295	c.140G>A	c.(139-141)gGc>gAc	p.G47D		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	47					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCGTCTGCAGGCAAATGCGTG	0.597000													3	46					0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603787	5603787	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:5603787G>A	ENST00000423158.3	+	2	658	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	NTF3_ENST00000331010.6_Missense_Mutation_p.R136Q|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	136					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						ACATCACGGCGGAAACGGTAC	0.607000													12	43					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55971085	55971085	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:55971085C>T	ENST00000263923.4	-	13	2007	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	571	Ig-like C2-type 6.				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)	GTCTGCAGTGCACCACAAAGA	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			13	38					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								5	50					0	0	1	0	0
PCDHA4	0	broad.mit.edu	37	5	140188443	140188443	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr5:140188443C>T	ENST00000530339.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAAAACGACA	0.667000													27	35					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559588	129559588	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:129559588C>A	ENST00000422113.2	-	9	2458	c.2132G>T	c.(2131-2133)tGc>tTc	p.C711F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.C249F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	711						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGACCCAGCAACTGATGGC	0.463000													9	25					9.70103e-10	1.11562e-09	1	1	0
SARDH	1757	broad.mit.edu	37	9	136596528	136596528	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136596528C>G	ENST00000371872.4	-	4	846	c.589G>C	c.(589-591)Gac>Cac	p.D197H	SARDH_ENST00000298628.5_Missense_Mutation_p.D197H|SARDH_ENST00000371867.1_Missense_Mutation_p.D108H|SARDH_ENST00000422262.2_Missense_Mutation_p.D29H|SARDH_ENST00000439388.1_Missense_Mutation_p.D197H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	197					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TAGAGGTCGTCCACATTCATC	0.632000													5	31					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361552	51361552	+	Silent	SNP	C	C	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:51361552C>G	ENST00000360617.3	+	3	474	c.474C>G	c.(472-474)ggC>ggG	p.G158G	KLK3_ENST00000593997.1_Silent_p.G158G|KLK3_ENST00000595952.1_Silent_p.G115G|KLK3_ENST00000597483.1_Silent_p.G115G|KLK3_ENST00000326003.2_Silent_p.G158G			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	158	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGGCTGGGGCAGCATTGAAC	0.652000													12	18					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67963908	67963908	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr16:67963908G>A	ENST00000574481.1	-	7	1285	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	242	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCAGGTGCGCGCACATTGCAG	0.552000													23	60					0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85029048	85029048	+	Silent	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:85029048G>A	ENST00000370630.4	-	6	897	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	283						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GTCCTGCAGCGTCACTACAAG	0.403000													27	30					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769401	13769401	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:13769401C>T	ENST00000279593.3	-	5	1525	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	439					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R439H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGTGACTATGCGTTTTTGGCA	0.532000													14	33					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136594963	136594963	+	Missense_Mutation	SNP	C	C	T	rs140509709	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136594963C>T	ENST00000371872.4	-	6	1096	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SARDH_ENST00000298628.5_Missense_Mutation_p.R280Q|SARDH_ENST00000371867.1_Missense_Mutation_p.R191Q|SARDH_ENST00000422262.2_Missense_Mutation_p.R112Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R280Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	280					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCAGCCATCCGGCCCACAGC	0.642000													4	29					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41911452	41911452	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr22:41911452C>T	ENST00000396512.3	+	5	614	c.597C>T	c.(595-597)ggC>ggT	p.G199G	ACO2_ENST00000216254.4_Silent_p.G199G			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	199				G -> D (in Ref. 4; CAG38805).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCAATGGTGGCGGCCTTGGGG	0.527000													29	58					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718996	2718996	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:2718996C>T	ENST00000382082.3	+	1	1495	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCTTCATCGCCATGGGCATCT	0.637000													10	21					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13275576	13275576	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr10:13275576C>T	ENST00000378681.3	-	3	254	c.182G>A	c.(181-183)cGc>cAc	p.R61H	UCMA_ENST00000463405.2_Missense_Mutation_p.R39H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	61						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCGCTTGCCGCGCCTCTTGAG	0.582000													42	63					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48216860	48216860	+	Silent	SNP	C	C	T	rs146365088	by1000genomes	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:48216860C>T	ENST00000316878.6	-	8	1949	c.1947G>A	c.(1945-1947)gcG>gcA	p.A649A	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	649	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCTCGTTCTCCGCTAGCTCAA	0.617000													33	69					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136595289	136595289	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136595289C>T	ENST00000371872.4	-	5	968	c.711G>A	c.(709-711)gtG>gtA	p.V237V	SARDH_ENST00000298628.5_Silent_p.V237V|SARDH_ENST00000371867.1_Silent_p.V148V|SARDH_ENST00000422262.2_Silent_p.V69V|SARDH_ENST00000439388.1_Silent_p.V237V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	237					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATGCCGGTCACTGGGCAGT	0.597000													3	37					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578525	7578525	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:7578525G>C	ENST00000420246.2	-	5	537	c.405C>G	c.(403-405)tgC>tgG	p.C135W	TP53_ENST00000413465.2_Missense_Mutation_p.C135W|TP53_ENST00000359597.4_Missense_Mutation_p.C135W|TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000269305.4_Missense_Mutation_p.C135W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TGGCCAGTTGGCAAAACATCT	0.567000		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)			7	9					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45475738	45475738	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:45475738G>C	ENST00000291574.4	+	5	817	c.642G>C	c.(640-642)gaG>gaC	p.E214D	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.E214D	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	214					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGAGGACTGAGCCAGGCTGGA	0.453000													33	56					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798378	38798378	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:38798378T>G	ENST00000308979.2	-	4	2348	c.2075A>C	c.(2074-2076)aAg>aCg	p.K692T	TLR1_ENST00000502213.2_Missense_Mutation_p.K692T	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	692	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAGATGGACTTGTAACTCTT	0.403000													14	136					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121882032	121882032	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:121882032C>T	ENST00000377069.4	-	16	2547	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G745D|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGCAGGGAGCCGGGCAGGTT	0.577000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	39					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27542200	27542200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:27542200C>A	ENST00000544915.1	+	7	863	c.644C>A	c.(643-645)tCa>tAa	p.S215*	ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.S164*|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.S201*|ARNTL2_ENST00000266503.5_Nonsense_Mutation_p.S249*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.S235*	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	249	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTTGATATTTCACCAAGAGAA	0.333000													10	27					0.000442599	0.000462718	1	1	0
NAA25	80018	broad.mit.edu	37	12	112518881	112518881	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:112518881T>A	ENST00000261745.4	-	5	708	c.460A>T	c.(460-462)Atg>Ttg	p.M154L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	154						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATTAAGCTCATCACAGACCAA	0.348000													49	147					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55141137	55141137	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:55141137C>T	ENST00000257290.5	+	12	2114	c.1783C>T	c.(1783-1785)Ctt>Ttt	p.L595F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L355F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	595	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGGACTAGTGCTTGGTAAGTT	0.448000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	44					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111124	23111124	+	Silent	SNP	G	G	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:23111124G>T	ENST00000400191.3	+	3	384	c.366G>T	c.(364-366)tcG>tcT	p.S122S	EPHB2_ENST00000544305.1_Silent_p.S122S|EPHB2_ENST00000374632.3_Silent_p.S122S|EPHB2_ENST00000374627.1_Silent_p.S116S|EPHB2_ENST00000374630.3_Silent_p.S122S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	122					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTTTGACTCGGCCACCAAGA	0.572000													10	16					2.17888e-05	2.3491e-05	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047205	46047205	+	Silent	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:46047205G>A	ENST00000397911.3	+	1	166	c.117G>A	c.(115-117)ccG>ccA	p.P39P	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	39	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGCGCCCCGGCCCCCTGCC	0.687000													13	45					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597691	136597691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136597691C>A	ENST00000371872.4	-	3	621	c.364G>T	c.(364-366)Gag>Tag	p.E122*	SARDH_ENST00000298628.5_Nonsense_Mutation_p.E122*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.E33*|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Nonsense_Mutation_p.E122*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	122					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGCTCCACCTCCACGTCACTG	0.662000													6	66					0.000673444	0.000693547	1	1	0
TTN	7273	broad.mit.edu	37	2	179640923	179640923	+	Missense_Mutation	SNP	G	G	A	rs146496197	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:179640923G>A	ENST00000589042.1	-	28	5892	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C	TTN_ENST00000360870.5_Missense_Mutation_p.R1890C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000591111.1_Missense_Mutation_p.R1890C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1605	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1844C(3)|p.R1890C(2)		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)			CCATCATAGCGAACTCTGAAC	0.498000													61	134					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16358450	16358450	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:16358450G>A	ENST00000334133.4	-	10	1894	c.1622C>T	c.(1621-1623)gCc>gTc	p.A541V	RFTN1_ENST00000432519.1_Missense_Mutation_p.A505V|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	541						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GCTGTGGCTGGCAGGACCATT	0.622000													4	86					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60601629	60601629	+	Silent	SNP	T	T	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:60601629T>G	ENST00000326270.9	+	6	568	c.300T>G	c.(298-300)ccT>ccG	p.P100P	TLK2_ENST00000346027.5_Silent_p.P100P|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Intron			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	100					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GAACCAGCCCTGGCAGAAGTG	0.473000													3	6					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644361	169644361	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:169644361C>T	ENST00000428432.2	+	6	700	c.311C>T	c.(310-312)gCt>gTt	p.A104V	SAMD7_ENST00000335556.3_Missense_Mutation_p.A104V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	104										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAATGTATGCTATTTACCAG	0.408000													4	44					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140943691	140943691	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:140943691G>A	ENST00000277549.5	+	24	3779	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1212R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1212R|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1212R			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1212					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCTTCACCCTGGAGCCTATTT	0.532000													3	44					0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124094713	124094713	+	Splice_Site	SNP	T	T	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:124094713T>A	ENST00000373823.3	+	25	2933	c.2026_splice	c.e25-1	p.A676_splice	GSN_ENST00000436847.1_Splice_Site_p.A687_splice|GSN_ENST00000449733.1_Splice_Site_p.A676_splice|GSN_ENST00000394353.2_Splice_Site_p.A687_splice|GSN_ENST00000341272.2_Splice_Site_p.A676_splice|GSN_ENST00000545652.1_Splice_Site_p.A684_splice|GSN_ENST00000412819.1_Splice_Site_p.A676_splice|GSN_ENST00000373818.4_Splice_Site_p.A727_splice|GSN_ENST00000373808.2_Splice_Site_p.A676_splice|GSN_ENST00000373806.1_Splice_Site_p.A152_splice			P06396	GELS_HUMAN	gelsolin	727	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGCAGCTAAGCGGTACA	0.577000											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	31					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	29					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587000													11	30					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475154	120475154	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:120475154C>T	ENST00000355622.6	+	3	849	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L210L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	250					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TATTCAAGGTCTGGCTGGTTT	0.348000													20	52					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:46011562G>C	ENST00000400368.1	-	1	824	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	268	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.H268Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642000													4	106					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826862	143826862	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:143826862C>T	ENST00000408899.2	+	1	712	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTACTTGCGCATCCTGGCCG	0.612000													6	169					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31576284	31576284	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr14:31576284G>C	ENST00000399332.1	-	38	7282	c.6794C>G	c.(6793-6795)cCt>cGt	p.P2265R	HECTD1_ENST00000553700.1_Missense_Mutation_p.P2265R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2265	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTAGAAATAGGTAAGTCCAC	0.358000													26	74					0	0	1	0	0
PDCD2	5134	broad.mit.edu	37	6	170893398	170893398	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr6:170893398G>A	ENST00000541970.1	-	1	350	c.272C>T	c.(271-273)gCc>gTc	p.A91V	PDCD2_ENST00000453163.2_Missense_Mutation_p.A91V|PDCD2_ENST00000542896.1_Missense_Mutation_p.A91V|PDCD2_ENST00000537445.1_Missense_Mutation_p.A58V|PDCD2_ENST00000392090.2_Missense_Mutation_p.A58V|PDCD2_ENST00000443345.2_Missense_Mutation_p.A58V	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	91					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TCGCAGGCCGGCACAGCACGG	0.711000													3	47					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370979	240370979	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:240370979C>T	ENST00000319653.9	+	5	3097	c.2867C>T	c.(2866-2868)cCg>cTg	p.P956L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1099L(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTT	0.697000													15	26					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	35					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46333948	46333948	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr11:46333948C>A	ENST00000529193.1	+	6	1277	c.826C>A	c.(826-828)Ccc>Acc	p.P276T	CREB3L1_ENST00000288400.3_Missense_Mutation_p.P276T			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	276					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGAGGGCTACCCCATCCCCAC	0.547000			T	FUS	myxofibrosarcoma								4	22					0.00024832	0.000263601	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11097573	11097573	+	RNA	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:11097573C>T	ENST00000470054.1	-	0	296									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aggctccaacctccagctcac	0.542000													4	39					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149522071	149522071	+	RNA	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:149522071C>A	ENST00000378016.2	+	0	13858							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGTGGAGTCTGTGGGGGCC	0.652000													2	1					0.0016	0.00162353	1	1	0
TRPM4	54795	broad.mit.edu	37	19	49692202	49692202	+	Splice_Site	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:49692202G>C	ENST00000252826.5	+	14	1999		c.e14-1		TRPM4_ENST00000355712.5_Splice_Site|TRPM4_ENST00000427978.2_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCTGCCCCAGACCTCTTTGG	0.607000													45	131					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48479505	48479505	+	Silent	SNP	C	C	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr20:48479505C>G	ENST00000417961.1	+	9	1011	c.801C>G	c.(799-801)gtC>gtG	p.V267V	SLC9A8_ENST00000361573.2_Silent_p.V251V|SLC9A8_ENST00000539601.1_Silent_p.V32V|SLC9A8_ENST00000541138.1_Intron	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	251						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTCAGATGTCAGTGGGTGGC	0.358000													20	55					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105160	168105160	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:168105160C>A	ENST00000409195.1	+	9	7347	c.7258C>A	c.(7258-7260)Cca>Aca	p.P2420T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2198T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2420T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2245					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGGTGTGTTGCCACCTCCCAC	0.423000													13	43					9.31168e-06	1.01985e-05	1	1	0
YTHDC1	91746	broad.mit.edu	37	4	69203566	69203566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:69203566delC	ENST00000344157.4	-	3	518	c.183delG	c.(181-183)aafs	p.K61fs	YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.K61fs|YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.K61fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	61										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GGACAGAAGGCTTTTGTCGTT	0.328													18	39	---	---	---	---					
FAM92A1P2	0	broad.mit.edu	37	4	183959378	183959379	+	RNA	INS	-	-	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:183959378_183959379insA	ENST00000502308.1	+	0	561_562					NR_003612.1																						TTTCGACCTTTAAAAAAAACGT	0.475													3	3	---	---	---	---					
RBM19	9904	broad.mit.edu	37	12	114358497	114358498	+	Splice_Site	INS	-	-	GA			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:114358497_114358498insGA	ENST00000545145.2	-	19	2384		c.e19-2		RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGAGCACTCCTGAGAGAGAGAG	0.545													17	196	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													3	3	---	---	---	---					
