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
GPD1	2819	broad.mit.edu	37	12	50501349	50501349	+	Splice_Site	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:50501349G>A	ENST00000301149.3	+	6	844		c.e6-1		GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Splice_Site	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	ACTCCTTCAAGAATGTAGTGG	0.572000													20	154					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480629	57480629	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:57480629G>A	ENST00000371236.2	-	12	1634	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	DAB1_ENST00000420954.2_Silent_p.D455D|DAB1_ENST00000371231.1_Silent_p.D490D|DAB1_ENST00000439789.2_Silent_p.D371D|DAB1_ENST00000414851.2_Silent_p.D439D|DAB1_ENST00000371234.4_Silent_p.D457D|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	490					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CATCACAGTCGTCTGTATCCT	0.542000													5	42					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142397048	142397048	+	Missense_Mutation	SNP	T	T	A	rs150579060	byFrequency	TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:142397048T>A	ENST00000258042.1	-	3	1050	c.910A>T	c.(910-912)Att>Ttt	p.I304F	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	304					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGGTGACAATCATGTGGCCT	0.428000													4	49					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071538	134071538	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:134071538C>T	ENST00000264360.5	+	1	1069	c.243C>T	c.(241-243)cgC>cgT	p.R81R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAATAGACCGCGAACAAATCT	0.562000													4	51					0	0	1	0	0
SPRY3	10251	broad.mit.edu	37	X	155003687	155003687	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:155003687G>C	ENST00000302805.2	+	2	585	c.154G>C	c.(154-156)Gat>Cat	p.D52H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	52					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACAAGTCTGATTGGTCTCT	0.562000													22	102					0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5269630	5269630	+	Missense_Mutation	SNP	C	C	G	rs35849660		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:5269630C>G	ENST00000330597.3	-	3	490	c.403G>C	c.(403-405)Gtg>Ctg	p.V135L		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	135			V -> M (in Jiangsu).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCAGTCACCATCTTCTGC	0.502000													4	31					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001607	177001607	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:177001607T>C	ENST00000367654.3	-	3	1061	c.850A>G	c.(850-852)Atg>Gtg	p.M284V	ASTN1_ENST00000367657.3_Missense_Mutation_p.M284V|ASTN1_ENST00000361833.2_Missense_Mutation_p.M284V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M284V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTGAGGTCCATCCCCGACTTT	0.597000													7	101					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73573052	73573052	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:73573052G>C	ENST00000326291.6	+	17	2480	c.2142G>C	c.(2140-2142)gtG>gtC	p.V714V	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	714						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAAAACATGTGACAGAAAATC	0.328000													9	34					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900001	130900001	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:130900001G>A	ENST00000392984.3	-	2	1298	c.555C>T	c.(553-555)tcC>tcT	p.S185S	CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000310463.6_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	0										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					AGGTCCCGAGGGAGAGCATGG	0.637000													3	32					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377945	28377945	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:28377945G>C	ENST00000261609.7	-	80	12370	c.12262C>G	c.(12262-12264)Ctg>Gtg	p.L4088V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4088					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTCCTCTCAGAGACTCGATG	0.488000													5	106					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135940497	135940497	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:135940497C>G	ENST00000372080.4	+	4	436	c.420C>G	c.(418-420)gcC>gcG	p.A140A	CEL_ENST00000351304.7_Silent_p.A137A	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	137					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GCCATGGGGCCAACTTCCTCA	0.617000													38	118					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047935	86047935	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:86047935T>C	ENST00000451137.2	+	3	826	c.602T>C	c.(601-603)gTt>gCt	p.V201A		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	201					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TTGATTGCAGTTGGAAAAGGC	0.502000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	97					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673544	151673544	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:151673544C>G	ENST00000402676.2	+	4	4258	c.4018C>G	c.(4018-4020)Caa>Gaa	p.Q1340E	AKAP12_ENST00000354675.6_Missense_Mutation_p.Q1242E|AKAP12_ENST00000253332.1_Missense_Mutation_p.Q1340E|AKAP12_ENST00000359755.5_Missense_Mutation_p.Q1235E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1340					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GATGGTAGTTCAAGTCGAAAG	0.473000													4	47					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	10101673	10101673	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:10101673A>C	ENST00000432992.2	-	1	195	c.35T>G	c.(34-36)tTc>tGc	p.F12C	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	12	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTCCCCGGAGAAGGGGTACAG	0.746000			T	MLL	AML*								3	18					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207751290	207751290	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:207751290G>C	ENST00000367049.4	+	29	4678	c.4678G>C	c.(4678-4680)Gag>Cag	p.E1560Q	RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.E1110Q|CR1_ENST00000367052.1_Missense_Mutation_p.E1110Q|CR1_ENST00000400960.2_Missense_Mutation_p.E1110Q|CR1_ENST00000367053.1_Missense_Mutation_p.E1110Q	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1110	Sushi 24.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTTGTGGGTGAGCCCTCCAT	0.502000													6	115					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378735	31378735	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:31378735T>A	ENST00000297142.3	-	2	470	c.148A>T	c.(148-150)Agg>Tgg	p.R50W		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	50					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ccAGGGGCCCTTTTGATGCTC	0.443000													30	35					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24698306	24698306	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:24698306C>T	ENST00000314328.9	+	3	392	c.107C>T	c.(106-108)aCg>aTg	p.T36M	SPECC1L_ENST00000437398.1_Missense_Mutation_p.T36M|SPECC1L_ENST00000541492.1_Missense_Mutation_p.T36M|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.T36M	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	36					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TCAGCATCTACGGGAGGCAAA	0.393000													55	76					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944492	50944492	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:50944492A>G	ENST00000374103.4	-	21	2750	c.2665T>C	c.(2665-2667)Ttc>Ctc	p.F889L	OGDHL_ENST00000419399.1_Missense_Mutation_p.F832L|OGDHL_ENST00000432695.1_Missense_Mutation_p.F680L|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	889					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCCGTGCAGAAGATGAGCCGC	0.622000													6	81					0	0	1	0	0
TM9SF2	9375	broad.mit.edu	37	13	100193821	100193821	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:100193821A>C	ENST00000376387.4	+	9	1107	c.917A>C	c.(916-918)aAt>aCt	p.N306T		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	306					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGCATTATGAATTCCCTGGTC	0.338000													4	39					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588196	118588196	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:118588196C>T	ENST00000360388.4	+	4	717	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	172					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGATTTTGCTCTCCTGGTTCT	0.502000													20	170					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957746	1957746	+	Silent	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:1957746T>A	ENST00000382895.3	+	17	3143	c.2712T>A	c.(2710-2712)gtT>gtA	p.V904V	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.V252V|WHSC1_ENST00000508803.1_Silent_p.V904V|WHSC1_ENST00000382892.2_Silent_p.V904V|WHSC1_ENST00000382891.5_Silent_p.V904V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	904	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCAAAAATGTTCCCCCAAATA	0.403000			T	IGH@	MM								13	179					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78408420	78408420	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:78408420T>C	ENST00000330010.8	+	12	2039	c.1742T>C	c.(1741-1743)tTc>tCc	p.F581S	NEXN_ENST00000334785.7_Missense_Mutation_p.F645S|NEXN_ENST00000457030.1_Missense_Mutation_p.F631S|NEXN_ENST00000480732.2_3'UTR	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	645					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CCAGAAACTTTCCCAGAAGAT	0.373000													6	46					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847718	123847718	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:123847718G>A	ENST00000531945.1	-	1	770	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAATAACGATGAGGATGAGGC	0.582000													9	41					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871593	8871593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:8871593C>A	ENST00000256707.3	-	30	4754	c.4573G>T	c.(4573-4575)Gaa>Taa	p.E1525*	KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.E1426*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.E1506*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.E1506*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1525					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGCCAGATTCATCCTCGTCA	0.473000													5	51					3.59834e-05	3.826e-05	1	1	0
OR5H2	79310	broad.mit.edu	37	3	98001888	98001888	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:98001888C>G	ENST00000355273.2	+	1	157	c.157C>G	c.(157-159)Ctt>Gtt	p.L53V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L53F(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTGATTGCTCTTATCTGGAA	0.428000													12	173					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654133	19654133	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:19654133G>C	ENST00000586018.1	+	7	1174	c.1072G>C	c.(1072-1074)Gac>Cac	p.D358H	CILP2_ENST00000291495.5_Missense_Mutation_p.D352H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	352	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACTGCGCCCAGACCAGGCTGG	0.652000													5	79					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135199389	135199389	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:135199389G>A	ENST00000409645.1	+	16	2182	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	MGAT5_ENST00000281923.2_Missense_Mutation_p.E644K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	644					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAAGCTTGCTGAGCCCGGGCA	0.567000													7	51					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158607882	158607882	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:158607882T>A	ENST00000368147.4	-	36	5310	c.5130A>T	c.(5128-5130)aaA>aaT	p.K1710N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATAGGCCTCTTTCAATTTTT	0.423000													6	65					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12680676	12680676	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr18:12680676C>G	ENST00000262127.2	-	9	1499	c.1274G>C	c.(1273-1275)aGt>aCt	p.S425T	CEP76_ENST00000423709.2_Missense_Mutation_p.S350T|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	425					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTGTTAAACTCTCCCAAAA	0.368000													5	89					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219492826	219492826	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:219492826C>A	ENST00000450993.2	+	7	1186	c.847C>A	c.(847-849)Cca>Aca	p.P283T	PLCD4_ENST00000417849.1_Missense_Mutation_p.P283T|PLCD4_ENST00000432688.1_Missense_Mutation_p.P283T	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	283					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCTTCAACCCAGCCTGCCT	0.527000													8	54					5.18039e-06	5.54714e-06	1	1	0
PRDM11	56981	broad.mit.edu	37	11	45246182	45246182	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:45246182C>T	ENST00000263765.4	+	8	1508	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	PRDM11_ENST00000424263.2_Missense_Mutation_p.S386L|PRDM11_ENST00000530656.1_Missense_Mutation_p.S420L|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	420										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAGGAGCCTTCATCATTCAAG	0.567000													17	117					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955898	35955898	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:35955898C>T	ENST00000274278.3	-	6	1501	c.1144G>A	c.(1144-1146)Ggt>Agt	p.G382S	UGT3A1_ENST00000503189.1_Missense_Mutation_p.G382S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G348S|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	382						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGGGCACACCATGACGGATG	0.493000													28	104					0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1491571	1491571	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:1491571A>G	ENST00000329957.6	-	5	827	c.638T>C	c.(637-639)tTc>tCc	p.F213S	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	182						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						AAAGAGGATGAAGTGGACGTA	0.612000													9	111					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197087035	197087035	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:197087035A>C	ENST00000260983.3	-	24	4228	c.4046T>G	c.(4045-4047)cTt>cGt	p.L1349R	HECW2_ENST00000409111.1_Missense_Mutation_p.L993R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCTTCATCAAGGTATTCTAG	0.418000													6	33					0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30100485	30100485	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:30100485C>T	ENST00000553607.1	-	3	1093	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TBX6_ENST00000395224.2_Missense_Mutation_p.E134K|TBX6_ENST00000279386.2_Missense_Mutation_p.E134K			O95947	TBX6_HUMAN	T-box 6	134					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TAGCGGGCCTCGGGGTCCAGG	0.682000													13	50					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366561	79366561	+	Silent	SNP	C	C	A	rs138116094		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:79366561C>A	ENST00000350881.2	+	12	1738	c.1548C>A	c.(1546-1548)atC>atA	p.I516I	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.I425I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	516					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAGATGGGATCCTGAATGAGC	0.502000													5	41					1.23904e-05	1.31975e-05	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198721849	198721849	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:198721849T>G	ENST00000367376.2	+	31	3622	c.3451T>G	c.(3451-3453)Tcc>Gcc	p.S1151A	PTPRC_ENST00000594404.1_Missense_Mutation_p.S990A|PTPRC_ENST00000442510.2_Missense_Mutation_p.S1153A|PTPRC_ENST00000348564.6_Missense_Mutation_p.S992A|PTPRC_ENST00000352140.3_Missense_Mutation_p.S1103A	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1151	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCAGAAGAATTCCTCTGAAGG	0.433000													3	24					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944458	55944458	+	Missense_Mutation	SNP	G	G	T	rs151315491		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:55944458G>T	ENST00000312298.1	+	1	365	c.365G>T	c.(364-366)cGc>cTc	p.R122L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTATGACCGCTATGTGGCC	0.453000													12	59					3.07112e-06	3.30022e-06	1	1	0
WDR25	79446	broad.mit.edu	37	14	100847804	100847804	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:100847804A>G	ENST00000335290.6	+	2	769	c.543A>G	c.(541-543)ctA>ctG	p.L181L	WDR25_ENST00000402312.3_Silent_p.L181L|WDR25_ENST00000554175.1_Silent_p.L181L|WDR25_ENST00000554998.1_Silent_p.L181L	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	181										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CCAGAAGACTAAGACAGCGGC	0.547000													12	96					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097272	167097272	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:167097272C>G	ENST00000361200.2	+	6	3070	c.2904C>G	c.(2902-2904)ctC>ctG	p.L968L	DUSP27_ENST00000271385.5_Silent_p.L968L|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.L968L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	968	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGTCCCTGCTCAGGGAGACAG	0.498000													4	62					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33012171	33012171	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:33012171T>C	ENST00000317907.4	+	16	2184	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	651							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CCATTAAAGCTTATCACCGGC	0.398000													11	48					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34044340	34044340	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:34044340G>T	ENST00000262325.7	+	20	3264	c.2711G>T	c.(2710-2712)cGt>cTt	p.R904L	AP2B1_ENST00000312678.8_Missense_Mutation_p.R918L|AP2B1_ENST00000592545.1_Missense_Mutation_p.R880L|AP2B1_ENST00000538556.1_Missense_Mutation_p.R847L|AP2B1_ENST00000589344.1_Missense_Mutation_p.R918L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.R918L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	904	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	p.R918P(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCCGAACTACGTATCCAGCCA	0.463000													6	56					2.7689e-08	3.02926e-08	1	1	0
SLC6A2	6530	broad.mit.edu	37	16	55735826	55735826	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:55735826A>T	ENST00000379906.2	+	13	2065	c.1810A>T	c.(1810-1812)Agg>Tgg	p.R604W	SLC6A2_ENST00000566163.1_Missense_Mutation_p.R559W|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000567238.1_Missense_Mutation_p.R499W|SLC6A2_ENST00000568943.1_Missense_Mutation_p.R604W|SLC6A2_ENST00000414754.3_Missense_Mutation_p.R548W|SLC6A2_ENST00000219833.8_Missense_Mutation_p.R604W	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	604					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTGGCTCAGAGGGACATCAG	0.617000											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	54					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228475878	228475878	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:228475878G>A	ENST00000570156.2	+	42	11289	c.11215G>A	c.(11215-11217)Gag>Aag	p.E3739K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E429K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3310K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2157K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E429K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3310K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2775	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAAGGGGTCCGAGACCCTCAG	0.627000													11	110					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232581473	232581473	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:232581473G>A	ENST00000366630.1	-	10	3513	c.3155C>T	c.(3154-3156)aCc>aTc	p.T1052I	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.T126I|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.T1052I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1052					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCGCAGGGGGTGCCCTCGCT	0.597000													28	68					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583964	10583964	+	Missense_Mutation	SNP	C	C	T	rs144520548		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:10583964C>T	ENST00000304501.1	-	2	529	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	SOX7_ENST00000553390.1_Missense_Mutation_p.G203S|SOX7_ENST00000554914.1_Missense_Mutation_p.G203S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	151					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.G151R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCCCGGCTGCCGCTTCTCTTC	0.711000													3	18					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976746	119976746	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:119976746A>G	ENST00000313400.4	-	3	1006	c.906T>C	c.(904-906)ccT>ccC	p.P302P	ASTN2_ENST00000373996.3_Silent_p.P302P|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.P302P			O75129	ASTN2_HUMAN	astrotactin 2	302						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGCCCGCCTAGGTGGCTCCT	0.592000													4	46					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21390405	21390405	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr18:21390405G>C	ENST00000313654.9	+	13	1920	c.1679G>C	c.(1678-1680)gGa>gCa	p.G560A	LAMA3_ENST00000399516.3_Missense_Mutation_p.G560A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	560	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCGGCCAGGAGTTACAGGA	0.532000													12	75					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999133	20999133	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:20999133T>G	ENST00000261383.3	-	46	6763	c.6764A>C	c.(6763-6765)tAt>tCt	p.Y2255S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2255	AAA 3 (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)		TGCATCTCTATAAATTGTCTT	0.517000													5	35					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148800990	148800990	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:148800990C>T	ENST00000378061.2	-	4	2105	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	658					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTGTGGACTCGAATGTGTTC	0.532000													15	108					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58455312	58455312	+	Silent	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:58455312T>G	ENST00000282308.3	-	2	346	c.150A>C	c.(148-150)acA>acC	p.T50T	ZNF256_ENST00000598928.1_Intron	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	50	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CCAGGGAGGTTGTAAGTGTCA	0.517000													8	79					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072907	134072907	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:134072907G>C	ENST00000264360.5	+	1	2438	c.1612G>C	c.(1612-1614)Gac>Cac	p.D538H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAGCTGAAGGACTTCAGTTT	0.557000													5	61					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743014	51743014	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:51743014T>C	ENST00000395052.3	+	2	249	c.15T>C	c.(13-15)ctT>ctC	p.L5L	GRM2_ENST00000442933.2_Silent_p.L5L|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	5					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GATCGCTGCTTGCGCTCCTGG	0.627000													3	14					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10904517	10904517	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:10904517T>C	ENST00000314646.5	+	8	1278	c.1114T>C	c.(1114-1116)Ttt>Ctt	p.F372L	DNM2_ENST00000359692.6_Missense_Mutation_p.F372L|DNM2_ENST00000585892.1_Missense_Mutation_p.F372L|DNM2_ENST00000389253.4_Missense_Mutation_p.F372L|DNM2_ENST00000408974.4_Missense_Mutation_p.F372L|DNM2_ENST00000355667.6_Missense_Mutation_p.F372L			P50570	DYN2_HUMAN	dynamin 2	372					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCGGTTCCCATTTGAGCTGGT	0.627000			"""F, N, Splice, Mis, O"""		ETP ALL								9	85					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997514	28997514	+	RNA	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:28997514G>C	ENST00000322982.3	-	0	420				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										AGCTGGTCTTGGGCACTACGC	0.682000													4	59					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525734	176525734	+	Silent	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:176525734A>T	ENST00000367662.3	+	2	1440	c.276A>T	c.(274-276)acA>acT	p.T92T	PAPPA2_ENST00000367661.3_Silent_p.T92T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	92					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCATCATACAGGACGCAGCA	0.562000													16	154					0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48360480	48360480	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:48360480G>A	ENST00000429772.2	+	6	680	c.567G>A	c.(565-567)ggG>ggA	p.G189G	TMEM106C_ENST00000552546.1_Silent_p.G118G|TMEM106C_ENST00000256686.6_Silent_p.G170G|TMEM106C_ENST00000550552.1_Silent_p.G170G|TMEM106C_ENST00000552561.1_Silent_p.G189G|TMEM106C_ENST00000449758.2_Silent_p.G170G|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	189						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		ATTTTACCGGGAAGGCCGAGA	0.453000													6	75					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58592418	58592418	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:58592418G>C	ENST00000317147.5	-	18	2623	c.2291C>G	c.(2290-2292)aCt>aGt	p.T764S	CNOT1_ENST00000441024.2_Missense_Mutation_p.T764S|CNOT1_ENST00000569240.1_Missense_Mutation_p.T764S|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	764					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTGAATGCAGTGGTCTGATT	0.463000													5	15					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88441526	88441526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:88441526C>T	ENST00000429277.2	+	5	800	c.655C>T	c.(655-657)Cga>Tga	p.R219*	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000310944.6_Nonsense_Mutation_p.R219*|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000361373.4_Nonsense_Mutation_p.R219*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.R219*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_Nonsense_Mutation_p.R219*|LDB3_ENST00000263066.6_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	219						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATGAGCCTCCGAGGGAAGGC	0.632000													8	63					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22886051	22886051	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:22886051T>A	ENST00000276431.4	-	5	825	c.541A>T	c.(541-543)Aaa>Taa	p.K181*	TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.K30*|TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.K181*	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	181					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CCTGATTCTTTGTGGACACAT	0.572000													6	86					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389358	56389358	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:56389358G>C	ENST00000355701.3	-	17	3694	c.2824C>G	c.(2824-2826)Cag>Gag	p.Q942E	BZRAP1_ENST00000343736.4_Missense_Mutation_p.Q942E|BZRAP1_ENST00000268893.6_Missense_Mutation_p.Q882E	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	942	Fibronectin type-III 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTTGGGCCTGATAGGGTGTG	0.652000													5	69					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100439	8100439	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:8100439C>T	ENST00000379328.3	+	3	981	c.413C>T	c.(412-414)tCc>tTc	p.S138F	GATA3_ENST00000346208.3_Missense_Mutation_p.S138F|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	138	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCGGCCTCGTCCTCCTCCTTG	0.716000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						23	78					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210483	30210483	+	RNA	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:30210483G>A	ENST00000518096.1	+	0	1095																											TCCGTGGTCGGATGTCCATGA	0.547000													6	48					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3339568	3339568	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:3339568G>A	ENST00000574253.1	+	2	872	c.563G>A	c.(562-564)aGc>aAc	p.S188N	ZNF263_ENST00000538765.1_Silent_p.E2E|ZNF263_ENST00000219069.5_Silent_p.E354E			O14978	ZN263_HUMAN	zinc finger protein 263	327					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GTGGAATGGAGCAGGCCTTGG	0.597000													5	33					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504960	70504960	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:70504960G>A	ENST00000310961.5	+	22	3772	c.3354G>A	c.(3352-3354)ctG>ctA	p.L1118L	LRRC7_ENST00000035383.5_Silent_p.L1113L|LRRC7_ENST00000415775.2_Silent_p.L397L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1113						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGGGCTTCCTGAGAAGGGCCG	0.562000													48	94					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682231	100682231	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:100682231G>A	ENST00000306151.4	+	3	7598	c.7534G>A	c.(7534-7536)Gaa>Aaa	p.E2512K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2512	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTAGTGAAGGAAGTAC	0.488000													29	290					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75675485	75675485	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:75675485C>G	ENST00000319410.5	-	3	404	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.E67Q	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	67					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CTCTCTTCCTCAGGACCCACA	0.542000													3	9					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49578810	49578810	+	Missense_Mutation	SNP	C	C	T	rs1065730		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:49578810C>T	ENST00000301071.7	-	4	1683	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	TUBA1A_ENST00000550767.1_Missense_Mutation_p.E412K|TUBA1A_ENST00000295766.5_Missense_Mutation_p.E447K	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	447			E -> K (in dbSNP:rs1065730).		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TCCTCTCCTTCTTCCTCACCC	0.443000													12	103					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118461276	118461276	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:118461276C>G	ENST00000369443.5	-	3	508	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q	GDAP2_ENST00000369442.3_Missense_Mutation_p.E87Q	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAGATACTTTCTGACACAGGA	0.368000													5	27					0	0	1	0	0
CD8A	925	broad.mit.edu	37	2	87016549	87016549	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:87016549C>T	ENST00000409511.2	-	7	1552	c.522G>A	c.(520-522)acG>acA	p.T174T	CD8A_ENST00000538832.1_Silent_p.T215T|CD8A_ENST00000283635.3_Silent_p.T174T|CD8A_ENST00000409781.1_Silent_p.T137T|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000352580.3_Intron	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	174					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CCAGCCCCCTCGTGTGCACTG	0.617000													9	72					0	0	1	0	0
CCDC174	51244	broad.mit.edu	37	3	14709681	14709681	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:14709681A>G	ENST00000383794.3	+	9	1018	c.945A>G	c.(943-945)gaA>gaG	p.E315E	CCDC174_ENST00000476763.1_3'UTR|CCDC174_ENST00000303688.7_Intron	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		CAGAAGAAGAAAATAGAGGTA	0.348000													8	76					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48458084	48458084	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:48458084G>C	ENST00000218056.5	+	4	1007	c.502G>C	c.(502-504)Gac>Cac	p.D168H	WDR13_ENST00000376729.5_Missense_Mutation_p.D168H|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	168						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCATGTTTTTGACCAGCACGT	0.567000													4	31					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134072369	134072369	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:134072369C>T	ENST00000338087.5	-	3	856	c.37G>A	c.(37-39)Gag>Aag	p.E13K	TG_ENST00000542445.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.E53K|SLA_ENST00000395352.3_Missense_Mutation_p.E30K|TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000517648.1_Missense_Mutation_p.E30K|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	13						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AGGGGCCTCTCGGCAGGCGCA	0.582000													9	162					0	0	1	0	0
ABHD14B	84836	broad.mit.edu	37	3	52003975	52003975	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:52003975T>C	ENST00000315877.10	-	5	1124	c.431A>G	c.(430-432)aAc>aGc	p.N144S	RP11-155D18.14_ENST00000489595.2_Intron|ABHD14B_ENST00000461108.1_Missense_Mutation_p.N146S|ABHD14B_ENST00000361143.5_Missense_Mutation_p.N146S|ABHD14B_ENST00000483233.1_Missense_Mutation_p.N146S|ABHD14B_ENST00000395008.2_Missense_Mutation_p.N146S|ABHD14B_ENST00000525795.1_Missense_Mutation_p.N146S|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	146						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		ACTGGCATAGTTGGCAGCATT	0.607000													5	71					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436299	85436299	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:85436299T>G	ENST00000359152.5	-	1	2772	c.2773A>C	c.(2773-2775)Aat>Cat	p.N925H	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.N401H|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.N401H	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTACATCATTCAATACAGGT	0.468000													4	42					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43942749	43942749	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:43942749G>A	ENST00000343694.3	+	8	904	c.832G>A	c.(832-834)Gtc>Atc	p.V278I	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.V278I|RBPJL_ENST00000372741.3_Missense_Mutation_p.V278I	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	278					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GGTGCAGCTCGTCTGCACGGT	0.597000													11	131					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47819339	47819339	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:47819339T>A	ENST00000378460.2	-	27	3327	c.3281A>T	c.(3280-3282)tAc>tTc	p.Y1094F	NUP160_ENST00000528071.1_Missense_Mutation_p.Y980F|NUP160_ENST00000530326.1_Missense_Mutation_p.Y980F	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1094					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACCCTTGCGGTAATTGTGGCG	0.388000													3	34					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488433	121488433	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:121488433G>A	ENST00000296600.4	+	2	1131	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	250						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GTGGAAAATGGAAAATGACCG	0.532000													9	43					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40519756	40519756	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:40519756T>C	ENST00000347077.4	+	7	795	c.579T>C	c.(577-579)gtT>gtC	p.V193V	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.V167V	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGGATGCGTTAGTCAAATGC	0.348000													4	17					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59455471	59455471	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:59455471C>T	ENST00000288235.4	-	23	2911	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	838					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TACTCTTGCTCATGGAGAATA	0.388000													5	44					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932317	79932317	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:79932317C>G	ENST00000373275.4	-	41	5416	c.5200G>C	c.(5200-5202)Gat>Cat	p.D1734H		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1734										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AACATGGTATCAAATTCATCA	0.453000													4	33					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26920233	26920233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:26920233C>A	ENST00000397292.3	-	8	1606	c.1189G>T	c.(1189-1191)Gaa>Taa	p.E397*	PLAA_ENST00000520884.1_Nonsense_Mutation_p.E397*	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	397	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACTTTCCCTTCATATAAAACT	0.358000													13	15					2.32078e-09	2.55286e-09	1	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131797741	131797741	+	Silent	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:131797741C>A	ENST00000392953.3	+	7	1419	c.900C>A	c.(898-900)atC>atA	p.I300I	ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Silent_p.I300I|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.I300I|ARHGEF4_ENST00000355771.3_Silent_p.I229I|ARHGEF4_ENST00000525839.1_Silent_p.I300I	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	300	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGGACTACATCAAGCACCTGC	0.692000													4	41					0.0293803	0.0298741	1	1	0
CELA3A	10136	broad.mit.edu	37	1	22333488	22333488	+	Silent	SNP	C	C	T	rs147682536		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:22333488C>T	ENST00000290122.3	+	5	499	c.480C>T	c.(478-480)acC>acT	p.T160T		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACATCACCGGCTGGGGCC	0.607000													19	86					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121312980	121312980	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:121312980G>A	ENST00000297848.3	+	36	4594	c.4324G>A	c.(4324-4326)Gag>Aag	p.E1442K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1442K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1347K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1442	Nonhelical region (NC4).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAGAGATGATGAGTCTTGCCC	0.443000													14	178					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71445300	71445300	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:71445300C>T	ENST00000304743.2	+	6	2692	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	PCNX_ENST00000238570.5_Missense_Mutation_p.S749F|PCNX_ENST00000439984.3_Missense_Mutation_p.S749F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	749						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCACTCGATCTAGGAATAGC	0.443000													5	53					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39875829	39875829	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:39875829G>A	ENST00000260356.5	+	4	804	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	213	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGGTGCTGCAGAATGTGAGGT	0.517000											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	89					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93841145	93841145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:93841145G>A	ENST00000412050.4	-	9	1847	c.1759C>T	c.(1759-1761)Cag>Tag	p.Q587*	CPEB3_ENST00000265997.4_Nonsense_Mutation_p.Q601*	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	601	RRM 2.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TAACTCTGCTGATTGGAGAAT	0.512000													21	46					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32205614	32205614	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:32205614G>A	ENST00000373658.3	-	14	2421	c.2080C>T	c.(2080-2082)Ctg>Ttg	p.L694L	BAI2_ENST00000257070.4_Silent_p.L694L|BAI2_ENST00000440175.2_Silent_p.L336L|BAI2_ENST00000527361.1_Silent_p.L694L|BAI2_ENST00000398547.1_Silent_p.L627L|BAI2_ENST00000398538.1_Silent_p.L682L|BAI2_ENST00000398542.1_Silent_p.L627L|BAI2_ENST00000398556.3_Silent_p.L642L|BAI2_ENST00000373655.2_Silent_p.L694L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	694					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACACGGAGCAGGTGCACAGAG	0.587000													10	39					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758030	141758030	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:141758030T>C	ENST00000475668.2	+	31	3775	c.3721T>C	c.(3721-3723)Tac>Cac	p.Y1241H	MGAM_ENST00000549489.2_Missense_Mutation_p.Y1241H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1241	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)	GATGGTACCTTACTGGTCTTT	0.448000													15	210					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621361	7621361	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:7621361C>T	ENST00000221249.6	+	28	3433	c.3002C>T	c.(3001-3003)cCt>cTt	p.P1001L	PNPLA6_ENST00000414982.3_Missense_Mutation_p.P1049L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P1039L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P974L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P1001L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1040	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GTGCTGGAACCTGTGTTGGAC	0.532000													8	134					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58197940	58197940	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:58197940G>C	ENST00000282296.5	+	3	482	c.297G>C	c.(295-297)caG>caC	p.Q99H	ZNF551_ENST00000356715.4_Missense_Mutation_p.Q83H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	99	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACCCACCCAGAAAACTCACC	0.468000													7	81					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:56478817G>A	ENST00000267101.3	+	3	713	c.273G>A	c.(271-273)atG>atA	p.M91I	ERBB3_ENST00000415288.2_Missense_Mutation_p.M32I|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.M91I	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	91					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.M91I(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473000													10	56					0	0	1	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671041	22671041	+	RNA	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:22671041C>A	ENST00000390460.1	+	0	106																											AGAGCCTGTTCACTTGCCTTG	0.453000													5	24					0.000602214	0.000627091	1	1	0
GAPDHS	26330	broad.mit.edu	37	19	36027889	36027889	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:36027889A>G	ENST00000222286.4	+	2	358	c.242A>G	c.(241-243)aAt>aGt	p.N81S		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	81					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTGGGCATCAATGGGTGAGTC	0.597000													55	70					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356312	48356312	+	Missense_Mutation	SNP	G	G	C	rs144262351		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:48356312G>C	ENST00000300433.3	+	5	431	c.321G>C	c.(319-321)gaG>gaC	p.E107D	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Missense_Mutation_p.E107D	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	107	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TCCCCCCAGAGAGGGTCAGAG	0.647000													6	28					0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24305854	24305854	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:24305854C>T	ENST00000238721.4	-	2	1161	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TP53I3_ENST00000407482.1_Missense_Mutation_p.E103K|TP53I3_ENST00000335934.4_Missense_Mutation_p.E103K|TP53I3_ENST00000313482.4_Missense_Mutation_p.E103K|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000417886.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	103					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGCCCTTCGGGGACAGTG	0.652000													10	24					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271004	140271004	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:140271004A>C	ENST00000370526.2	-	1	306	c.203T>G	c.(202-204)aTc>aGc	p.I68S	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	68					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CGTCTGCACGATAAACTCGGG	0.622000													3	32					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82337373	82337373	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:82337373C>T	ENST00000376520.4	+	19	2918	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F	TLE4_ENST00000376537.4_Missense_Mutation_p.S697F|TLE4_ENST00000376552.2_Missense_Mutation_p.S665F|TLE4_ENST00000376534.4_Missense_Mutation_p.S302F|TLE4_ENST00000265284.6_Missense_Mutation_p.S640F|TLE4_ENST00000376544.3_Missense_Mutation_p.S596F	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAGATCTTTTCTCTGGGCTAC	0.448000													154	12					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2979530	2979530	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:2979530C>T	ENST00000396946.4	-	6	1120	c.717G>A	c.(715-717)atG>atA	p.M239I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	239					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATTCCTCCTCCATCTTATTCA	0.488000			Mis		DLBCL								8	114					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148341960	148341960	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:148341960C>T	ENST00000369202.1	-	6	810	c.613G>A	c.(613-615)Gag>Aag	p.E205K	NBPF20_ENST00000414710.2_Missense_Mutation_p.E205K					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GCACATTCCTCCAGTGAGTCC	0.488000													10	145					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17328855	17328855	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:17328855C>T	ENST00000452699.1	-	7	745	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G186S|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G191S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	191					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAAGAGCGGCCATGGTCCAGG	0.672000													7	23					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112140109	112140109	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:112140109G>C	ENST00000455480.2	+	3	508	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.E111Q|ACAD10_ENST00000549590.1_Missense_Mutation_p.E111Q	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	111							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ACTTTGCTCTGAAATGGTGAG	0.378000													10	58					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88583170	88583170	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:88583170C>T	ENST00000418177.2	-	3	1182	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	GRM5_ENST00000305447.4_Missense_Mutation_p.R272Q|GRM5_ENST00000305432.5_Missense_Mutation_p.R272Q|GRM5_ENST00000393297.1_Missense_Mutation_p.R272Q|GRM5_ENST00000455756.2_Missense_Mutation_p.R272Q			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	272					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGCCACCACCCGGGCCTTGGG	0.557000													4	22					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21961254	21961254	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:21961254C>G	ENST00000405508.1	+	8	1755	c.1479C>G	c.(1477-1479)atC>atG	p.I493M	TOX4_ENST00000262709.3_Missense_Mutation_p.I493M|TOX4_ENST00000448790.2_Missense_Mutation_p.I470M			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	493	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTCTGCAGATCAAGAGTGTGC	0.522000													5	74					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47047473	47047473	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:47047473T>C	ENST00000450053.3	+	43	7018	c.6839T>C	c.(6838-6840)aTc>aCc	p.I2280T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.I2096T|NBEAL2_ENST00000383740.2_Missense_Mutation_p.I559T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2280	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CACGAGTGGATCGACCTCATC	0.587000													4	55					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454622	114454622	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:114454622A>G	ENST00000369563.3	+	4	1854	c.1408A>G	c.(1408-1410)Aca>Gca	p.T470A	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	470					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGAAGCCACAGGGAATCA	0.522000								Other identified genes with known or suspected DNA repair function					8	117					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34827003	34827003	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:34827003C>T	ENST00000192788.5	+	14	3041	c.2870C>T	c.(2869-2871)tCa>tTa	p.S957L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S957L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	957										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCAGGACTCAGGTCCACTT	0.562000													4	40					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866085	7866085	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:7866085G>A	ENST00000264669.5	-	3	1586	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	484					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGTCCAAATGAGATTCTTTA	0.398000													23	51					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35029498	35029498	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:35029498C>G	ENST00000310974.4	-	7	745	c.601G>C	c.(601-603)Gag>Cag	p.E201Q		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	201						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TTACCTACCTCTCCATGATTG	0.328000													3	13					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144812524	144812524	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:144812524C>T	ENST00000388913.3	-	2	354	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	77					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCAGGTGGCTCTCGGGTAACA	0.607000													6	49					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58196672	58196672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:58196672G>T	ENST00000282296.5	+	2	309	c.124G>T	c.(124-126)Gag>Tag	p.E42*	ZNF551_ENST00000356715.4_Nonsense_Mutation_p.E26*|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_Intron|ZNF551_ENST00000596085.1_Nonsense_Mutation_p.E26*			Q7Z340	ZN551_HUMAN	zinc finger protein 551	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTCCCAAGAAGAGTGGGAGCT	0.493000													6	91					0.00116845	0.00120839	1	1	0
IKZF2	22807	broad.mit.edu	37	2	213872252	213872252	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:213872252G>A	ENST00000457361.1	-	8	1581	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	IKZF2_ENST00000374319.4_Silent_p.F445F|IKZF2_ENST00000342002.2_Silent_p.F477F|IKZF2_ENST00000451136.2_Silent_p.F399F|IKZF2_ENST00000374327.4_Silent_p.F326F|IKZF2_ENST00000434687.1_Silent_p.F471F|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Silent_p.F397F	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCTCACACTTGAAGGCCCTAA	0.498000													12	98					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44589969	44589969	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:44589969G>C	ENST00000421176.3	+	5	554	c.338G>C	c.(337-339)aGa>aCa	p.R113T	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GAGTTAACTAGACCTCAAGAC	0.473000													8	34					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32994113	32994113	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:32994113C>T	ENST00000340811.4	-	6	1513	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N	PKP2_ENST00000070846.6_Missense_Mutation_p.D513N	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	513					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTGAGTTTGTCATTAGATGAC	0.443000													4	48					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153940813	153940813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:153940813G>A	ENST00000369575.3	-	4	788	c.757C>T	c.(757-759)Cag>Tag	p.Q253*	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Nonsense_Mutation_p.Q254*	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	253										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGGCAGCCTGAGGCCTCGAG	0.547000													10	43					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74528644	74528644	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:74528644C>T	ENST00000299563.4	+	4	740	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	243							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTGCCAGTGTCCTGCACGTCT	0.478000													4	61					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441791	37441791	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:37441791T>C	ENST00000307750.4	-	2	946	c.758A>G	c.(757-759)cAg>cGg	p.Q253R		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACTATCTTCCTGGTTATCAGT	0.468000													7	45					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111630635	111630635	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:111630635G>A	ENST00000369680.4	-	18	1669	c.1421C>T	c.(1420-1422)tCa>tTa	p.S474L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S403L|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.S493L|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.S517L	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	474					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CCATAAAGCTGAACGGGCAAA	0.433000													5	42					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131234650	131234650	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:131234650G>C	ENST00000298542.4	-	2	327	c.152C>G	c.(151-153)tCt>tGt	p.S51C	FRMD7_ENST00000464296.1_Missense_Mutation_p.S51C	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	51	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATTATTTCCAGAATGGCTGCA	0.383000													4	34					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157527786	157527786	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:157527786G>C	ENST00000346085.5	+	20	5512	c.5511G>C	c.(5509-5511)aaG>aaC	p.K1837N	ARID1B_ENST00000367148.1_Missense_Mutation_p.K1877N|ARID1B_ENST00000350026.5_Missense_Mutation_p.K1824N|ARID1B_ENST00000275248.4_Missense_Mutation_p.K1819N	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1824					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTGAGAGCAAGATGGAAATTC	0.562000													19	41					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31942896	31942896	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:31942896G>C	ENST00000432498.1	+	5	781	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	SFI1_ENST00000443326.1_Missense_Mutation_p.E48Q|SFI1_ENST00000400288.2_Missense_Mutation_p.E130Q|SFI1_ENST00000443011.1_Missense_Mutation_p.E48Q|SFI1_ENST00000540643.1_Missense_Mutation_p.E106Q|SFI1_ENST00000414585.1_Missense_Mutation_p.E48Q|SFI1_ENST00000400289.1_Missense_Mutation_p.E48Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	130	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGAATGGAAAGAGGAGTGGTG	0.408000													5	83					0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99623773	99623773	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:99623773C>T	ENST00000370602.1	+	3	290	c.225C>T	c.(223-225)ctC>ctT	p.L75L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	75						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						GCTCCTACCTCGAGGGCTGCC	0.602000													8	48					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499213	62499213	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:62499213C>T	ENST00000225792.5	-	8	1215	c.814G>A	c.(814-816)Gat>Aat	p.D272N	DDX5_ENST00000450599.2_Missense_Mutation_p.D193N|DDX5_ENST00000578804.1_Missense_Mutation_p.D272N	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	272	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GTTTGCCTATCAGGCTAATGG	0.363000			T	ETV4	prostate								8	105					0	0	1	0	0
C2orf70	339778	broad.mit.edu	37	2	26802258	26802258	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:26802258T>C	ENST00000409392.1	+	5	622	c.520T>C	c.(520-522)Tcc>Ccc	p.S174P	C2orf70_ENST00000329615.3_Silent_p.S186S			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	0										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGAGGGTCTCTCCACAGGAGC	0.527000													4	69					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51497428	51497428	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:51497428G>C	ENST00000371117.3	-	65	11875	c.11600C>G	c.(11599-11601)tCt>tGt	p.S3867C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3867					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAGGCCACAGAGGACAGGGA	0.458000													5	51					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077194	179077194	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:179077194T>C	ENST00000502732.1	-	12	3411	c.3208A>G	c.(3208-3210)Aga>Gga	p.R1070G	ABL2_ENST00000512653.1_Missense_Mutation_p.R1055G|ABL2_ENST00000511413.1_Missense_Mutation_p.R967G|ABL2_ENST00000507173.1_Missense_Mutation_p.R946G|ABL2_ENST00000408940.3_Missense_Mutation_p.R1034G|ABL2_ENST00000367623.4_Missense_Mutation_p.R1049G|ABL2_ENST00000344730.3_Missense_Mutation_p.R952G|ABL2_ENST00000504405.1_Missense_Mutation_p.R931G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	1070	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGGTTTTTCTCAGAGCCACT	0.537000			T	ETV6	AML								8	34					0	0	1	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090289	23090289	+	RNA	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:23090289C>T	ENST00000390311.2	+	0	266																											CCTCAGGGATCCCTGAGCGAT	0.502000													5	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500764	179500764	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:179500764G>C	ENST00000589042.1	-	226	41758	c.41534C>G	c.(41533-41535)aCa>aGa	p.T13845R	TTN_ENST00000342175.6_Missense_Mutation_p.T4972R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T12204R|TTN_ENST00000460472.2_Missense_Mutation_p.T4780R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T11277R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T4905R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12204							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)			TCCAGCATCTGTGTCATCTGC	0.488000													4	66					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124229255	124229255	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:124229255G>T	ENST00000330342.3	+	12	1686	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	480					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CAACCTGTTCGGCTCTGGGTG	0.522000													12	49					0.00136819	0.00141256	1	1	0
RWDD2B	10069	broad.mit.edu	37	21	30378805	30378805	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr21:30378805T>C	ENST00000493196.1	-	5	993	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	298										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TAAGAACTGATAGAGCTGACC	0.393000													14	23					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87762245	87762245	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:87762245G>A	ENST00000398204.4	+	12	1379	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	ADAM22_ENST00000398201.4_Silent_p.L352L|ADAM22_ENST00000398209.3_Silent_p.L352L|ADAM22_ENST00000265727.7_Silent_p.L352L|ADAM22_ENST00000315984.7_Silent_p.L352L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	352	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GCTCGTTGCTGAAAGGAGGAG	0.408000													6	35					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166544	140166544	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:140166544A>G	ENST00000504120.2	+	1	669	c.669A>G	c.(667-669)caA>caG	p.Q223Q	PCDHA1_ENST00000394633.3_Silent_p.Q223Q|PCDHA1_ENST00000378133.3_Silent_p.Q223Q	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGCTGCAAGGTACAGTTG	0.458000													4	41					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890299	156890299	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:156890299A>T	ENST00000311946.7	+	2	537	c.421A>T	c.(421-423)Aaa>Taa	p.K141*	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000521390.1_3'UTR|NIPAL4_ENST00000435489.2_Nonsense_Mutation_p.K141*	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	141						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCTCAAGAAGAAAGGCCTCTT	0.597000													4	33					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81374356	81374356	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:81374356C>T	ENST00000222390.5	-	6	932	c.706G>A	c.(706-708)Gat>Aat	p.D236N	HGF_ENST00000453411.1_Missense_Mutation_p.D231N|HGF_ENST00000444829.2_Missense_Mutation_p.D236N|HGF_ENST00000457544.2_Missense_Mutation_p.D231N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	236	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTCTGATGATCCCAGCGCTGA	0.383000													4	41					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	372262	372262	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:372262C>T	ENST00000432829.2	+	18	2197	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P	DOCK8_ENST00000469391.1_Silent_p.P627P|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Silent_p.P162P|DOCK8_ENST00000453981.1_Silent_p.P695P	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	695					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATTGCCACCCAACTACTCCA	0.453000													7	34					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42041033	42041033	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:42041033A>G	ENST00000264451.7	+	8	880	c.700A>G	c.(700-702)Aag>Gag	p.K234E		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTGTTTTTTAAGGGACCAGG	0.328000													4	40					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135570661	135570661	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:135570661T>C	ENST00000370648.3	+	1	616	c.388T>C	c.(388-390)Tct>Cct	p.S130P		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	130					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCGGCTCACTTCTGTTGGTGT	0.443000													5	37					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114253135	114253135	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:114253135C>T	ENST00000357077.4	+	28	3186	c.3133C>T	c.(3133-3135)Cac>Tac	p.H1045Y	ANK2_ENST00000394537.3_Missense_Mutation_p.H1045Y|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Missense_Mutation_p.H1036Y|ANK2_ENST00000264366.6_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1021	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGTAAACTTCACCTGCCAAC	0.512000													6	115					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63537671	63537671	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:63537671C>T	ENST00000307078.5	-	4	1274	c.961G>A	c.(961-963)Gga>Aga	p.G321R	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.G321R	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	321					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGAGGAATTCCATCTCTAAGG	0.488000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	55					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58785309	58785309	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:58785309G>C	ENST00000355431.3	+	6	697	c.324G>C	c.(322-324)ctG>ctC	p.L108L	ARID4A_ENST00000431317.2_Silent_p.L108L|ARID4A_ENST00000348476.3_Silent_p.L108L|ARID4A_ENST00000395168.3_Silent_p.L108L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	108					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACTTTGTCTGAAAGGAGAGA	0.373000													5	35					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113702252	113702252	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:113702252G>A	ENST00000297405.5	-	14	2244	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P667L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P563L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P627L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	667	Sushi 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTGTACCAGGATCACCACA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	68					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283349	113283349	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:113283349T>C	ENST00000362072.3	-	7	1411	c.1067A>G	c.(1066-1068)aAg>aGg	p.K356R	DRD2_ENST00000542968.1_Missense_Mutation_p.K356R|DRD2_ENST00000355319.2_Missense_Mutation_p.K358R|DRD2_ENST00000538967.1_Missense_Mutation_p.K358R|DRD2_ENST00000544518.1_Missense_Mutation_p.K355R|DRD2_ENST00000346454.3_Missense_Mutation_p.K327R	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	356	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GCTCATGGTCTTGAGGGAGGT	0.562000													6	52					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51948860	51948860	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:51948860A>C	ENST00000311234.4	-	14	2274	c.1802T>G	c.(1801-1803)cTa>cGa	p.L601R	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.L285R|INTS6_ENST00000497989.1_Missense_Mutation_p.L423R|INTS6_ENST00000425000.1_Missense_Mutation_p.L169R|INTS6_ENST00000398119.2_Missense_Mutation_p.L588R	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	601					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)		AAGTTCTCTTAGTGGAGAAGG	0.378000													3	22					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36214104	36214104	+	Missense_Mutation	SNP	G	G	T	rs145726597		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:36214104G>T	ENST00000251195.5	-	13	2470	c.2374C>A	c.(2374-2376)Caa>Aaa	p.Q792K	CLSPN_ENST00000318121.3_Missense_Mutation_p.Q792K|CLSPN_ENST00000373220.3_Missense_Mutation_p.Q728K|CLSPN_ENST00000520551.1_Missense_Mutation_p.Q739K			Q9HAW4	CLSPN_HUMAN	claspin	792					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGGCCTGTTTGTCTGTTGCAA	0.493000													8	54					0.0381472	0.0387233	1	1	0
CDH15	1013	broad.mit.edu	37	16	89261552	89261552	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:89261552C>T	ENST00000289746.2	+	14	2499	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	812					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		ACACAGAGGCCGGACAGCCTG	0.687000													3	11					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832741	113832741	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:113832741G>A	ENST00000393197.2	+	4	680	c.259G>A	c.(259-261)Gag>Aag	p.E87K	IL1F10_ENST00000341010.2_Missense_Mutation_p.E87K|IL1F10_ENST00000337569.3_Missense_Mutation_p.E87K	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	87						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TGTGAACATTGAGGAACTGTA	0.582000													87	212					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910178	139910178	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:139910178C>A	ENST00000265662.5	-	23	3610	c.3463G>T	c.(3463-3465)Gac>Tac	p.D1155Y	ABCA2_ENST00000341511.6_Missense_Mutation_p.D1155Y|ABCA2_ENST00000371605.3_Missense_Mutation_p.D1154Y			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1154	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGTAGGGGTCCACGCCCGCC	0.701000													14	8					9.31168e-06	9.9533e-06	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135983459	135983459	+	Silent	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:135983459T>A	ENST00000393160.3	-	6	1301	c.948A>T	c.(946-948)gcA>gcT	p.A316A	RALGDS_ENST00000542690.1_Silent_p.A442A|RALGDS_ENST00000393157.3_Silent_p.A370A|RALGDS_ENST00000372050.3_Silent_p.A371A|RALGDS_ENST00000372062.3_Silent_p.A342A|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.A359A	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	371					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCCCGTTCTCTGCAACCACAG	0.557000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								15	37					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358008	66358008	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:66358008G>A	ENST00000333861.3	-	1	2546	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	827										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACCAGGTGGCGAACCCGCCGC	0.572000													8	151					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158535942	158535942	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:158535942G>C	ENST00000367104.3	-	15	1694	c.1563C>G	c.(1561-1563)atC>atG	p.I521M	SERAC1_ENST00000367102.2_3'UTR|SERAC1_ENST00000367101.1_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	521					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGGTATTGTTGATAACAGTAC	0.398000													25	75					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131768630	131768630	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:131768630G>C	ENST00000372577.2	+	43	5077	c.5056G>C	c.(5056-5058)Gag>Cag	p.E1686Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1686					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GATGAAGCAGGAGCTCAGCTC	0.597000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	151					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777932	201777932	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:201777932A>C	ENST00000367296.4	+	20	4560	c.4140A>C	c.(4138-4140)ttA>ttC	p.L1380F	NAV1_ENST00000367297.4_Missense_Mutation_p.L1372F|NAV1_ENST00000367300.3_Missense_Mutation_p.L1320F|NAV1_ENST00000367302.1_Missense_Mutation_p.L1333F|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.L1377F|NAV1_ENST00000367295.1_Missense_Mutation_p.L986F	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1380					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CATCTGCATTATCTTCCCCAC	0.582000													11	93					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149880779	149880779	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:149880779C>G	ENST00000369146.3	-	8	1834	c.1344G>C	c.(1342-1344)ctG>ctC	p.L448L	SV2A_ENST00000369145.1_Silent_p.L448L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	448					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCATCATCATCAGAGTGATGC	0.517000													7	138					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563243	1563243	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:1563243G>T	ENST00000572621.1	-	30	5103	c.4838C>A	c.(4837-4839)aCa>aAa	p.T1613K	PRPF8_ENST00000304992.6_Missense_Mutation_p.T1613K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1613						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGGATGGATTGTCTCCTTTTG	0.443000													3	33					0.00024832	0.00026037	1	1	0
SCRT1	83482	broad.mit.edu	37	8	145556961	145556961	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:145556961C>G	ENST00000332135.4	-	2	1044	c.933G>C	c.(931-933)aaG>aaC	p.K311N		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCGCGAAGCTCTTCTTGCAGC	0.667000													9	15					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230668934	230668934	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:230668934G>C	ENST00000283943.5	-	18	2613	c.2435C>G	c.(2434-2436)tCa>tGa	p.S812*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S860*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.S542*|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	812	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTTGACTCTGAATATCCACC	0.338000													4	48					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75562822	75562822	+	Silent	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:75562822C>A	ENST00000603027.1	-	13	2954	c.2331G>T	c.(2329-2331)ggG>ggT	p.G777G	NDST2_ENST00000299641.4_Silent_p.G654G|NDST2_ENST00000309979.6_Silent_p.G777G						777																	GCAGCTCTTGCCCATCCACAA	0.537000													13	72					0.00010058	0.000106197	1	1	0
RAD17	5884	broad.mit.edu	37	5	68687744	68687744	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:68687744G>T	ENST00000509734.1	+	12	1804	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	RAD17_ENST00000521422.1_Missense_Mutation_p.D200Y|RAD17_ENST00000354312.3_Missense_Mutation_p.D365Y|RAD17_ENST00000361732.2_Missense_Mutation_p.D365Y|RAD17_ENST00000354868.5_Missense_Mutation_p.D365Y|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.D376Y|RAD17_ENST00000345306.6_Missense_Mutation_p.D365Y|RAD17_ENST00000282891.6_Missense_Mutation_p.D279Y|RAD17_ENST00000358030.2_Missense_Mutation_p.D200Y|RAD17_ENST00000305138.4_Missense_Mutation_p.D365Y			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	376					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AAAAAAACCTGATAGGGTTTT	0.343000								Other conserved DNA damage response genes					5	47					0.000602214	0.000627091	1	1	0
SIN3B	23309	broad.mit.edu	37	19	16976281	16976281	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:16976281A>T	ENST00000379803.1	+	12	1554	c.1540A>T	c.(1540-1542)Aag>Tag	p.K514*	SIN3B_ENST00000248054.5_Nonsense_Mutation_p.K482*|SIN3B_ENST00000595541.1_Nonsense_Mutation_p.K72*	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	514	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						TGTGCAGAAGAAGCTATCTCG	0.582000													5	31					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307235	120307235	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:120307235G>A	ENST00000369406.3	-	2	168	c.119C>T	c.(118-120)tCt>tTt	p.S40F	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.S40F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	40					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGGACAGCAGAGGCTGTAGA	0.468000													4	18					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56588845	56588845	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:56588845C>G	ENST00000323456.5	-	5	362	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.E80Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	80						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACGGCTCTCCACACTGTCA	0.567000													5	105					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394962	10394962	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:10394962G>C	ENST00000264832.3	+	4	1216	c.891G>C	c.(889-891)caG>caC	p.Q297H	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.Q75H	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	297	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGGGGAACCAGAGCCAGGAGA	0.627000													8	55					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29755927	29755927	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:29755927G>C	ENST00000357586.2	-	4	351	c.165C>G	c.(163-165)gtC>gtG	p.V55V	AP1B1_ENST00000356015.2_Silent_p.V55V|AP1B1_ENST00000432560.2_Silent_p.V55V|AP1B1_ENST00000415447.1_Silent_p.V55V|AP1B1_ENST00000405198.1_Silent_p.V55V|AP1B1_ENST00000402502.1_Silent_p.V55V|AP1B1_ENST00000317368.7_Silent_p.V55V	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	55					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCATGCAGTTGACCACATCGG	0.498000											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	51					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37357083	37357083	+	Silent	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:37357083A>T	ENST00000361924.2	+	11	1781	c.1407A>T	c.(1405-1407)gtA>gtT	p.V469V	GOLGA4_ENST00000356847.4_Silent_p.V491V|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	469	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGTTGATGTAATGAAAGTAA	0.323000													7	28					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													8	64					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813692	2813692	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:2813692C>G	ENST00000301740.8	+	11	3712	c.3163C>G	c.(3163-3165)Ctg>Gtg	p.L1055V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1055	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGTCTCATCTCTGCAACTGAA	0.458000													8	78					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178748673	178748673	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:178748673G>A	ENST00000311417.2	-	3	1126	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.P129S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	129					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CTCACCTGCGGAGGGACTGGA	0.468000													7	131					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263956	55263956	+	Silent	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:55263956A>C	ENST00000342376.3	+	8	1042	c.1011A>C	c.(1009-1011)ccA>ccC	p.P337P	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CGGAACTTCCAAATGCTGAGC	0.512000													10	216					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10673680	10673680	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:10673680C>G	ENST00000423302.2	-	2	266	c.117G>C	c.(115-117)gaG>gaC	p.E39D	MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.E30D|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.E30D|MRVI1_ENST00000531107.1_Missense_Mutation_p.E30D|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.E39D|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	30					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGCCCGGAACCTCCGCTGCGT	0.647000													4	19					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100343382	100343382	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:100343382G>A	ENST00000294724.4	+	12	2087	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	AGL_ENST00000370163.3_Missense_Mutation_p.E537K|AGL_ENST00000370165.3_Missense_Mutation_p.E537K|AGL_ENST00000370161.2_Missense_Mutation_p.E521K|AGL_ENST00000361915.3_Missense_Mutation_p.E537K|AGL_ENST00000361302.3_Missense_Mutation_p.E521K|AGL_ENST00000361522.4_Missense_Mutation_p.E520K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	537					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCACGTAGCTGAGGTACAGAA	0.363000													8	36					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480339	73480339	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:73480339G>C	ENST00000523207.1	+	2	958	c.370G>C	c.(370-372)Gat>Cat	p.D124H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	124					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAAGAACTTGATTACTGGGG	0.453000													9	60					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:8375060G>C	ENST00000538603.1	-	7	1311	c.753C>G	c.(751-753)ctC>ctG	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662000													6	78					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51457415	51457415	+	Silent	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:51457415C>A	ENST00000335891.5	-	7	1671	c.1662G>T	c.(1660-1662)acG>acT	p.T554T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1003					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TACTGTCCAGCGTAGGTGGGG	0.498000													7	120					2.0095e-06	2.17486e-06	1	1	0
SALL2	6297	broad.mit.edu	37	14	21992532	21992532	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:21992532C>G	ENST00000327430.3	-	2	1624	c.1330G>C	c.(1330-1332)Gtc>Ctc	p.V444L	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.V307L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	444							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGTAATGACATAGTCTAGG	0.567000													5	43					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423872	47423872	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:47423872C>T	ENST00000404338.3	+	1	1940	c.1940C>T	c.(1939-1941)cCt>cTt	p.P647L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	647					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GTCAGGCTTCCTGTGAACTCT	0.433000													5	37					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099988	27099988	+	Splice_Site	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:27099988G>A	ENST00000324856.7	+	15	4237		c.e15+1		ARID1A_ENST00000374152.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000457599.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAGAGTGAGGTAAGCATGAC	0.567000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	28					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58196669	58196669	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:58196669G>A	ENST00000282296.5	+	2	306	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	ZNF551_ENST00000356715.4_Missense_Mutation_p.E25K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_Intron|ZNF551_ENST00000596085.1_Missense_Mutation_p.E25K			Q7Z340	ZN551_HUMAN	zinc finger protein 551	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCTCCCAAGAAGAGTGGGA	0.498000													6	94					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46262211	46262211	+	Splice_Site	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:46262211T>A	ENST00000336915.6	-	7	512		c.e7-2		SKAP1_ENST00000584924.1_Splice_Site	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1						positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GCTGCTTGCCTGCAAGACAGG	0.498000													3	30					0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228289058	228289058	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:228289058G>A	ENST00000272139.4	-	7	884	c.650C>T	c.(649-651)tCt>tTt	p.S217F	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	217										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				AGATGTGGGAGAGGAGGTGGC	0.522000													3	32					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7647391	7647391	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:7647391C>T	ENST00000340209.4	+	6	892	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	RBFOX1_ENST00000553186.1_Missense_Mutation_p.R194C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R214C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R237C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R194C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R194C|RBFOX1_ENST00000535565.2_Missense_Mutation_p.R151C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R211C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R237C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R214C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R214C			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	194					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCCACAGCACGTGTAATGAC	0.363000													3	12					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10402264	10402264	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:10402264C>T	ENST00000221980.4	+	3	515	c.452C>T	c.(451-453)gCg>gTg	p.A151V	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	151	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGGCCCCGTGCGAGCCTCACG	0.731000													13	100					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27457362	27457362	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:27457362G>C	ENST00000337929.3	+	8	1293	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	IL21R_ENST00000564089.1_Missense_Mutation_p.E274Q|IL21R_ENST00000395754.4_Missense_Mutation_p.E274Q|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.E274Q	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	274					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCCAGCCCTGAGCGGTTCTT	0.627000			T	BCL6	NHL								3	34					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380271	114380271	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:114380271A>G	ENST00000359785.5	-	13	1886	c.1751T>C	c.(1750-1752)tTa>tCa	p.L584S	PTPN22_ENST00000528414.1_Missense_Mutation_p.L529S|PTPN22_ENST00000420377.2_Missense_Mutation_p.L584S|PTPN22_ENST00000525799.1_Missense_Mutation_p.L457S|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.L340S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	584					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCAGTGATAAAGAATCATG	0.348000													4	49					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140056478	140056478	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:140056478A>C	ENST00000504366.1	-	9	2567	c.748T>G	c.(748-750)Tcc>Gcc	p.S250A	HARS_ENST00000438307.2_Missense_Mutation_p.S279A|HARS_ENST00000415192.2_Missense_Mutation_p.S245A|HARS_ENST00000431330.2_Missense_Mutation_p.S205A|HARS_ENST00000448240.1_Missense_Mutation_p.S124A|HARS_ENST00000504156.1_Missense_Mutation_p.S319A|HARS_ENST00000457527.2_Missense_Mutation_p.S299A|HARS_ENST00000307633.3_Missense_Mutation_p.S259A			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	319					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGGTCAAAGGAGATCTGTGGA	0.547000													9	102					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186038817	186038817	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:186038817C>G	ENST00000271588.4	+	51	8131	c.7902C>G	c.(7900-7902)ctC>ctG	p.L2634L	HMCN1_ENST00000367492.2_Silent_p.L2634L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2634	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCAGATCCTCAATGCACAGG	0.448000													3	30					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36680509	36680509	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:36680509C>G	ENST00000216181.5	-	39	5762	c.5532G>C	c.(5530-5532)ctG>ctC	p.L1844L	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1844					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACATCCTTCAGCTTCTTCT	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				23	98					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61379857	61379857	+	RNA	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr18:61379857A>C	ENST00000544088.1	+	0	349				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAAATCAACCAGCCAGACTCT	0.428000													7	46					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665412	117665412	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:117665412T>C	ENST00000317775.6	-	23	4125	c.3440A>G	c.(3439-3441)aAg>aGg	p.K1147R	NOS1_ENST00000338101.4_Missense_Mutation_p.K1181R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1147	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTGGGGTTCTTGCCCCATTT	0.582000													13	47					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32907442	32907442	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:32907442A>C	ENST00000544455.1	+	10	2054	c.1827A>C	c.(1825-1827)caA>caC	p.Q609H	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q609H	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	609					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)		CGAAAGACCAAAAATCAGAAC	0.308000			"""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)			4	19					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112496642	112496642	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:112496642T>A	ENST00000230538.7	-	11	1627	c.1230A>T	c.(1228-1230)gaA>gaT	p.E410D	LAMA4_ENST00000389463.4_Missense_Mutation_p.E403D|LAMA4_ENST00000424408.2_Missense_Mutation_p.E403D|LAMA4_ENST00000522006.1_Missense_Mutation_p.E403D	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	410	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGGGCTAAGTTCATGCTCTT	0.478000													8	49					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924411	105924411	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:105924411G>C	ENST00000393359.2	-	2	774	c.348C>G	c.(346-348)atC>atG	p.I116M	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.I116M			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	116	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCCCCCTTGATGCGGGCCC	0.577000													6	93					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105546199	105546199	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:105546199G>T	ENST00000332180.5	+	26	2815	c.2728G>T	c.(2728-2730)Gat>Tat	p.D910Y		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	910					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGCTACCTTGATCAATTCAG	0.373000													7	25					1.12685e-05	1.20237e-05	1	1	0
DARC	2532	broad.mit.edu	37	1	159175832	159175832	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:159175832G>A	ENST00000537147.1	+	3	1446	c.603G>A	c.(601-603)acG>acA	p.T201T	DARC_ENST00000368121.2_Silent_p.T203T|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368122.2_Silent_p.T201T			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	201					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TATACAGCACGGAGCTGAAGG	0.557000													8	31					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73739335	73739335	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:73739335C>T	ENST00000427855.1	+	27	3902	c.3800C>T	c.(3799-3801)tCa>tTa	p.S1267L	RP4-647C14.3_ENST00000556578.1_RNA|PAPLN_ENST00000381166.3_3'UTR|PAPLN_ENST00000554301.1_Missense_Mutation_p.S1267L|PAPLN_ENST00000340738.5_Missense_Mutation_p.S1240L|PAPLN_ENST00000555445.1_Missense_Mutation_p.S1251L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1267	PLAC.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGTTCACGTTTCCAG	0.542000													16	76					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62180833	62180833	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:62180833T>A	ENST00000474889.1	+	10	1693	c.1316T>A	c.(1315-1317)aTg>aAg	p.M439K	PTPRG_ENST00000295874.10_Missense_Mutation_p.M439K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	439	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGCCAGACGATGCTGTTTCAA	0.582000													7	50					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38134328	38134328	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:38134328C>T	ENST00000308059.6	+	11	1734	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	DLEC1_ENST00000346219.3_Silent_p.I571I|DLEC1_ENST00000452631.2_Silent_p.I571I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	571					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGACCTTCATCATCATGTGCG	0.567000													12	64					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119549200	119549200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:119549200C>A	ENST00000264025.3	-	2	885	c.355G>T	c.(355-357)Gag>Tag	p.E119*	PVRL1_ENST00000340882.2_Nonsense_Mutation_p.E119*|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Nonsense_Mutation_p.E119*	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	119	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TAGACACCCTCATCCTCCAGC	0.627000													9	59					3.09899e-07	3.36001e-07	1	1	0
MMP17	4326	broad.mit.edu	37	12	132334459	132334459	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:132334459C>A	ENST00000360564.1	+	9	1419	c.1317C>A	c.(1315-1317)caC>caA	p.H439Q	MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.H355Q	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	439	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCTGGGCCCACAATGACAGGA	0.612000													13	141					0.00244969	0.00252052	1	1	0
OTX2	5015	broad.mit.edu	37	14	57271040	57271040	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:57271040G>A	ENST00000339475.5	-	4	415	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	OTX2_ENST00000554788.1_Intron|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000555006.1_Missense_Mutation_p.R39C|OTX2_ENST00000408990.3_Missense_Mutation_p.R39C	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	39					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTCTCCCGGCGCTGTTTCCGG	0.632000													4	28					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18210154	18210154	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:18210154G>A	ENST00000317582.5	+	7	1659	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	BCL2L13_ENST00000337612.5_Missense_Mutation_p.E276K|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.E276K|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.E314K|BCL2L13_ENST00000485631.1_3'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	438					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GCCGCCGTCTGAGGGCAAGTC	0.587000													6	59					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941019	22941019	+	Silent	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:22941019T>G	ENST00000397104.3	-	5	1418	c.1419A>C	c.(1417-1419)ccA>ccC	p.P473P	ZNF99_ENST00000596209.1_Silent_p.P564P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGTATGGTTTCTTCC	0.348000													3	25					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208678	13208678	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:13208678C>G	ENST00000197268.8	+	2	351	c.231C>G	c.(229-231)gtC>gtG	p.V77V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	77						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTTCAGAAGTCACCACGGAGG	0.572000													7	73					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174855	150174855	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:150174855G>T	ENST00000307271.3	+	5	2559	c.1985G>T	c.(1984-1986)gGt>gTt	p.G662V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	662						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AATTTAATAGGTATTTTACAA	0.488000													4	47					1	1	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13727660	13727660	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:13727660G>C	ENST00000265104.4	-	70	12093	c.11989C>G	c.(11989-11991)Ctt>Gtt	p.L3997V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3997					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATAAGGAGAAGACGTCTGAAG	0.373000									Kartagener syndrome				5	73					0	0	1	0	0
GPALPP1	55425	broad.mit.edu	37	13	45580386	45580386	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:45580386T>C	ENST00000361121.2	+	3	306	c.271T>C	c.(271-273)Ttt>Ctt	p.F91L	GPALPP1_ENST00000379151.4_Missense_Mutation_p.F91L|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_5'UTR					GPALPP motifs containing 1	91																	tgatgGGTTTTTTGGACCAGC	0.333000													6	138					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10655699	10655699	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:10655699C>T	ENST00000309469.4	+	3	559	c.386C>T	c.(385-387)cCg>cTg	p.P129L	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	129					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGGGACTTCCCGCCCCTTCCT	0.632000													11	167					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76462763	76462763	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:76462763A>C	ENST00000389840.5	-	56	8996	c.8872T>G	c.(8872-8874)Ttc>Gtc	p.F2958V	DNAH17_ENST00000585328.1_Missense_Mutation_p.F2967V|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCTCCAGGAAGCGGGCGCTG	0.637000													6	49					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120628590	120628590	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:120628590T>A	ENST00000427067.2	-	8	860	c.680A>T	c.(679-681)aAt>aTt	p.N227I	ENPP2_ENST00000259486.6_Missense_Mutation_p.N231I|ENPP2_ENST00000522826.1_Missense_Mutation_p.N231I|ENPP2_ENST00000075322.6_Missense_Mutation_p.N231I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	231					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATACATTGAATTGCCAACAAT	0.348000													4	21					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48122530	48122530	+	Missense_Mutation	SNP	G	G	A	rs138255381		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:48122530G>A	ENST00000311303.3	-	24	3746	c.3401C>T	c.(3400-3402)cCc>cTc	p.P1134L	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1134	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GAGAACAAGGGGGGTGTTGTC	0.527000													3	28					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40027398	40027398	+	Missense_Mutation	SNP	C	C	A	rs149028769		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:40027398C>A	ENST00000181839.4	+	2	2017	c.1412C>A	c.(1411-1413)gCg>gAg	p.A471E	CDK13_ENST00000340829.5_Missense_Mutation_p.A471E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	471					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						gcagaagcagcgaaagctgca	0.502000													3	32					0.004672	0.00478267	1	1	0
POLN	353497	broad.mit.edu	37	4	2209974	2209974	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:2209974T>C	ENST00000511885.2	-	5	807	c.454A>G	c.(454-456)Att>Gtt	p.I152V	POLN_ENST00000382865.1_Missense_Mutation_p.I152V|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	152					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTAAGATTAATGCTTCCTTTA	0.313000								DNA polymerases (catalytic subunits)					3	18					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42752824	42752824	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:42752824G>C	ENST00000222329.4	-	4	1597	c.1440C>G	c.(1438-1440)ctC>ctG	p.L480L	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.L405L	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	480					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AGCGTAGCTTGAGGGGCATGC	0.662000													5	87					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57489832	57489832	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:57489832C>G	ENST00000351747.2	-	9	1177	c.997G>C	c.(997-999)Gat>Cat	p.D333H	DNAH12_ENST00000311202.6_Missense_Mutation_p.D333H|DNAH12_ENST00000389536.4_Missense_Mutation_p.D333H	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	333	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTGTCGTCATCAAATGTCAAT	0.358000													3	12					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680251	6680251	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:6680251C>G	ENST00000377648.4	+	3	912	c.530C>G	c.(529-531)tCg>tGg	p.S177W	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	177					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GATACTCCCTCGAGTGGATCT	0.592000													11	33					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032764	82032764	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:82032764A>G	ENST00000328945.5	-	3	1261	c.1134T>C	c.(1132-1134)atT>atC	p.I378I		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	378					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GAACTGCTATAATCAGGAGGA	0.473000													3	32					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123785804	123785804	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:123785804T>C	ENST00000422452.2	-	8	1602	c.1539A>G	c.(1537-1539)ggA>ggG	p.G513G	TENM1_ENST00000371130.3_Silent_p.G513G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCATCTTTTTTCCATCATTGT	0.413000													6	38					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56108799	56108799	+	Silent	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:56108799G>T	ENST00000394555.2	-	5	1023	c.588C>A	c.(586-588)tcC>tcA	p.S196S	EFEMP1_ENST00000355426.3_Silent_p.S196S|EFEMP1_ENST00000424836.2_Silent_p.S138S|EFEMP1_ENST00000394554.1_Silent_p.S196S	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	196	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACATGCAAAGGATCCCCGTA	0.507000													4	48					0.00909568	0.00927974	1	1	0
PRDM16	63976	broad.mit.edu	37	1	3328710	3328710	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:3328710G>C	ENST00000378398.3	+	10	2034	c.1952G>C	c.(1951-1953)gGg>gCg	p.G651A	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.G651A|PRDM16_ENST00000441472.2_Missense_Mutation_p.G650A|PRDM16_ENST00000270722.5_Missense_Mutation_p.G650A|PRDM16_ENST00000378391.2_Missense_Mutation_p.G650A|PRDM16_ENST00000442529.2_Missense_Mutation_p.G650A|PRDM16_ENST00000511072.1_Missense_Mutation_p.G651A			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	650					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCAAGTTTGGGGGCGGCTTG	0.687000			T	EVI1	"""MDS, AML"""								7	89					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28382029	28382029	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:28382029G>C	ENST00000479665.1	-	2	611	c.80C>G	c.(79-81)tCa>tGa	p.S27*	AZI2_ENST00000457172.1_Nonsense_Mutation_p.S27*|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Nonsense_Mutation_p.S27*|AZI2_ENST00000334100.6_Nonsense_Mutation_p.S27*	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	27						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TGAATATATTGAAACTGGAGT	0.358000													4	24					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904524	55904524	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:55904524G>C	ENST00000301529.1	-	1	670	c.671C>G	c.(670-672)tCc>tGc	p.S224C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CCTTAGAATGGACAAAACAAT	0.358000													6	28					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36204801	36204801	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:36204801A>G	ENST00000251195.5	-	20	3462	c.3366T>C	c.(3364-3366)ctT>ctC	p.L1122L	CLSPN_ENST00000318121.3_Silent_p.L1122L|CLSPN_ENST00000373220.3_Silent_p.L1058L|CLSPN_ENST00000520551.1_Silent_p.L1069L			Q9HAW4	CLSPN_HUMAN	claspin	1122					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCATCAGCAAGGTACCTCT	0.428000													11	87					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66519059	66519059	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:66519059G>C	ENST00000589228.1	+	3	468	c.340G>C	c.(340-342)Gtt>Ctt	p.V114L	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.V114L|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.V114L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.V114L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.V114L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.V114L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	114	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GGCATCCTATGTTAGAAAGGT	0.463000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				4	66					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959034	75959034	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:75959034C>T	ENST00000307630.3	-	2	826	c.604G>A	c.(604-606)Gac>Aac	p.D202N		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	202				AFD -> EFE (in Ref. 1; AAD48408).	G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						ATGGCGTCGTCGAACGCGGTC	0.592000													14	129					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447670	10447670	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:10447670G>A	ENST00000326756.3	-	3	721	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAATTGGGAGGAGCTGCACCG	0.413000													13	54					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234628118	234628118	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:234628118C>G	ENST00000373409.3	+	1	695	c.652C>G	c.(652-654)Ctg>Gtg	p.L218V	UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		GCTCTACCCTCTGGCCCTGTC	0.463000													5	87					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8196772	8196772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:8196772G>A	ENST00000402384.3	-	8	1044	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	ICA1_ENST00000407906.1_Nonsense_Mutation_p.Q260*|ICA1_ENST00000422063.2_Nonsense_Mutation_p.Q260*|ICA1_ENST00000401396.1_Nonsense_Mutation_p.Q248*|ICA1_ENST00000406470.2_Nonsense_Mutation_p.Q260*|ICA1_ENST00000265577.7_Nonsense_Mutation_p.Q259*|ICA1_ENST00000396675.3_Nonsense_Mutation_p.Q260*			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	260					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCATATGGTTGATAACCTTTG	0.363000													7	30					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81625498	81625498	+	Silent	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:81625498A>T	ENST00000558726.1	-	22	2703	c.2568T>A	c.(2566-2568)ctT>ctA	p.L856L	TMC3_ENST00000359440.5_Silent_p.L855L|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	855						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTTTTCGGAAAAGAGGTTCTG	0.537000													8	68					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490457	30490457	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:30490457C>G	ENST00000356798.6	+	5	553	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	ITGAL_ENST00000454514.2_Missense_Mutation_p.L125V|ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	125					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAACACCTATCTGAGTGGCCT	0.527000													4	40					0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158747418	158747418	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:158747418G>A	ENST00000231228.2	-	5	1048	c.593C>T	c.(592-594)gCc>gTc	p.A198V		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	198					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGGGCAGGCACTGTCCTC	0.557000													19	54					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785756	28785756	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:28785756A>G	ENST00000373839.3	+	3	438	c.177A>G	c.(175-177)aaA>aaG	p.K59K	PHACTR4_ENST00000373836.3_Silent_p.K69K|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	59							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATAAATTTAAAGAGACTTCAG	0.353000													4	28					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52498548	52498548	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:52498548C>T	ENST00000371614.1	-	1	940	c.886G>A	c.(886-888)Gac>Aac	p.D296N	TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	296							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GTGAGCAAGTCCCCGGGGACA	0.597000													23	124					0	0	1	0	0
PSMA2	5683	broad.mit.edu	37	7	42964279	42964279	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:42964279C>T	ENST00000538645.1	-	3	307	c.135G>A	c.(133-135)caG>caA	p.Q45Q	PSMA2_ENST00000442788.1_Silent_p.Q123Q|PSMA2_ENST00000445517.1_Silent_p.Q53Q|PSMA2_ENST00000223321.4_Silent_p.Q123Q			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	123					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CTTACCCTGACTGAGTATATT	0.383000													7	62					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974510	64974510	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:64974510G>T	ENST00000399262.2	-	8	1635	c.1417C>A	c.(1417-1419)Cat>Aat	p.H473N	JMJD1C_ENST00000542921.1_Missense_Mutation_p.H291N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.H254N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.H254N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	473					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTAGAATTATGATCAGAAACT	0.383000													5	56					8.12818e-05	8.59712e-05	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30349792	30349792	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:30349792C>T	ENST00000327564.7	+	1	1769	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.R555C|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R543C|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R543C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R461C			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	543						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCAGAGGCTCCGCCAAGTGCC	0.532000													10	92					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74300990	74300990	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:74300990C>T	ENST00000262765.5	-	2	248	c.69G>A	c.(67-69)aaG>aaA	p.K23K		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	23							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTTTGAATAGCTTCTCTAGTT	0.527000													26	168					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92940485	92940485	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:92940485C>T	ENST00000544910.1	+	21	1886	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	CCDC132_ENST00000541136.1_Missense_Mutation_p.R397W|CCDC132_ENST00000305866.5_Missense_Mutation_p.R586W|CCDC132_ENST00000317751.6_Missense_Mutation_p.R317W|CCDC132_ENST00000535481.1_Missense_Mutation_p.R306W	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	586										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGTGTTTCTCGGGAAACTCT	0.333000													7	56					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	57913477	57913477	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:57913477C>G	ENST00000282878.4	+	2	201	c.32C>G	c.(31-33)tCt>tGt	p.S11C		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	11					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CAGATGGCCTCTGCCCAAGAT	0.408000													3	30					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081531	152081531	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:152081531G>A	ENST00000368804.1	-	2	4161	c.4162C>T	c.(4162-4164)Cgg>Tgg	p.R1388W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1388	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTCTCCCGTTCCTGGCGG	0.582000													8	117					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198359446	198359446	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:198359446C>G	ENST00000388968.3	-	5	808	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q	HSPD1_ENST00000345042.2_Missense_Mutation_p.E181Q	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	181					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTGCCAATTTCTTTGTCTCCG	0.363000													3	31					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117526819	117526819	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:117526819A>T	ENST00000254029.3	+	4	806	c.411A>T	c.(409-411)ttA>ttT	p.L137F	WDR44_ENST00000371825.3_Missense_Mutation_p.L137F|WDR44_ENST00000371822.5_Missense_Mutation_p.L112F|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	137	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AATTAGAATTAAAAAAATGCT	0.383000													6	40					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28248176	28248176	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:28248176A>C	ENST00000344773.2	+	5	522	c.384A>C	c.(382-384)caA>caC	p.Q128H	BRE_ENST00000379624.1_Missense_Mutation_p.Q128H|BRE_ENST00000361704.2_Missense_Mutation_p.Q128H|BRE_ENST00000379632.2_Missense_Mutation_p.Q128H|BRE_ENST00000342045.2_Missense_Mutation_p.Q128H|BRE_ENST00000603461.1_3'UTR	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	128	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACCAATTCCAATGTAGCCGCC	0.453000													4	55					0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156170116	156170116	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:156170116G>C	ENST00000359511.4	+	2	650	c.478G>C	c.(478-480)Gta>Cta	p.V160L	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.V137L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	160					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGGACAAGGGGTAGTTGCCTT	0.552000													6	54					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357495	40357495	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:40357495G>A	ENST00000221347.6	-	34	15825	c.15818C>T	c.(15817-15819)cCc>cTc	p.P5273L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5273	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGTACCAGGGGATGGTATT	0.582000													6	52					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6682374	6682374	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:6682374G>C	ENST00000309577.6	-	37	5670	c.5507C>G	c.(5506-5508)tCa>tGa	p.S1836*	CHD4_ENST00000357008.2_Nonsense_Mutation_p.S1808*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.S1833*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.S1801*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1808	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AGGGTCTTCTGACATGTTCAA	0.527000													7	68					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20077278	20077278	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:20077278G>C	ENST00000351989.3	+	4	1396	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	DGCR8_ENST00000383024.2_Missense_Mutation_p.E323Q|DGCR8_ENST00000407755.1_Missense_Mutation_p.E323Q	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	323	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.|WW.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCTACACAGAGAGTCTCGGGT	0.577000													11	134					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92428471	92428471	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:92428471C>T	ENST00000362005.3	+	3	578	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	BRDT_ENST00000399546.2_Missense_Mutation_p.R54C|BRDT_ENST00000394530.3_Missense_Mutation_p.R54C|BRDT_ENST00000402388.1_Missense_Mutation_p.R54C|BRDT_ENST00000370389.2_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	54	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCCCTTTCAACGTCCTGTGGA	0.343000													6	66					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16552651	16552651	+	Silent	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:16552651C>A	ENST00000380672.4	-	5	603	c.546G>T	c.(544-546)gtG>gtT	p.V182V	BNC2_ENST00000380667.2_Silent_p.V115V|BNC2_ENST00000545497.1_Silent_p.V87V|BNC2_ENST00000380666.2_Silent_p.V182V	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCCGCACAGGCACTGCTTGTG	0.572000													7	46					0.248553	0.249791	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158504548	158504548	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:158504548A>G	ENST00000355585.4	+	21	3028	c.2953A>G	c.(2953-2955)Atg>Gtg	p.M985V	SYNJ2_ENST00000367122.2_Missense_Mutation_p.M985V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.M70V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.M985V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	985							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACGAGACAGCATGGCCCCCGT	0.522000													4	41					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38882999	38882999	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:38882999G>A	ENST00000359357.3	+	66	9589	c.9335G>A	c.(9334-9336)aGc>aAc	p.S3112N	DNAH8_ENST00000441566.1_Missense_Mutation_p.S3076N|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3329N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCACAGTAAGCGCTCAGGCT	0.353000													4	36					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30132835	30132835	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:30132835G>T	ENST00000335574.5	+	4	575	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	HM13_ENST00000492709.1_3'UTR|HM13_ENST00000376127.3_Nonsense_Mutation_p.E151*|HM13_ENST00000398174.3_Nonsense_Mutation_p.E151*|HM13_ENST00000340852.5_Nonsense_Mutation_p.E151*	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	151					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGAAAACAAGGAAGGTCAGTG	0.483000													7	57					0.00198382	0.00204465	1	1	0
SCNN1A	6337	broad.mit.edu	37	12	6457957	6457957	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:6457957G>A	ENST00000358945.3	-	12	2071	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	SCNN1A_ENST00000540037.1_Missense_Mutation_p.A222V|SCNN1A_ENST00000228916.2_Missense_Mutation_p.A522V|SCNN1A_ENST00000543768.1_Missense_Mutation_p.A545V|SCNN1A_ENST00000396966.2_Missense_Mutation_p.P503S|SCNN1A_ENST00000360168.3_Missense_Mutation_p.A581V			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	522					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GTTGACTTTGGCCACTCCATT	0.488000													9	71					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124458867	124458867	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:124458867C>G	ENST00000329446.4	-	2	269	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	80										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ATCTCTTTTTCCAAGGGGGAG	0.493000													4	48					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464712	10464712	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:10464712G>A	ENST00000382483.3	-	4	7119	c.6896C>T	c.(6895-6897)tCc>tTc	p.S2299F		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2299					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGAGGAGGAAGGGCCTGT	0.597000													22	163					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201008970	201008970	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:201008970G>C	ENST00000362061.3	-	44	5837	c.5611C>G	c.(5611-5613)Cca>Gca	p.P1871A	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1852A|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1871					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CACAGCCTTGGAGGAATAAGG	0.642000													6	68					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294960	29294960	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:29294960C>G	ENST00000331664.5	-	1	2167	c.2168G>C	c.(2167-2169)aGa>aCa	p.R723T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	723					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGACAGCCTCTGACATTCCA	0.552000													10	60					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679553	6679553	+	RNA	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:6679553G>T	ENST00000518724.1	-	0	795							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TCACCAGCCAGTGGGCACCTG	0.617000													3	4					0.00024832	0.00026037	1	1	0
SMCHD1	23347	broad.mit.edu	37	18	2697888	2697888	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr18:2697888C>T	ENST00000320876.6	+	10	1529	c.1191C>T	c.(1189-1191)gaC>gaT	p.D397D	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.D397D	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	397					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAATACAAGACGACATGCAGA	0.343000													17	38					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3761476	3761476	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:3761476G>A	ENST00000378230.3	-	6	885	c.561C>T	c.(559-561)taC>taT	p.Y187Y	CEP104_ENST00000378223.3_Silent_p.Y187Y	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	187						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTTACCTGGCGTACGTTCCTT	0.493000													8	53					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158826993	158826993	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:158826993G>A	ENST00000262178.2	-	10	1067	c.882C>T	c.(880-882)gtC>gtT	p.V294V	VIPR2_ENST00000402066.1_Silent_p.V435V|VIPR2_ENST00000377633.3_Silent_p.V278V	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	294					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGACAAAATTGACCTGCACAA	0.468000													4	29					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17682562	17682562	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:17682562C>G	ENST00000375448.4	+	12	1421	c.1395C>G	c.(1393-1395)gaC>gaG	p.D465E	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	465					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCTATTCTGACTGGCTGTCCG	0.612000													7	45					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35245311	35245311	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:35245311G>A	ENST00000360310.1	-	18	3214	c.2647C>T	c.(2647-2649)Cca>Tca	p.P883S	BAZ1A_ENST00000358716.4_Missense_Mutation_p.P851S|BAZ1A_ENST00000382422.2_Missense_Mutation_p.P883S	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	883	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACTGGTTTTGGCAGCTGCACA	0.448000													4	60					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52627115	52627115	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:52627115C>T	ENST00000331817.5	+	1	218	c.35C>T	c.(34-36)tCg>tTg	p.S12L		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	12	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GTATTCACCTCGCGCTCAGCC	0.731000													4	19					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552747	41552747	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:41552747C>A	ENST00000396942.1	-	27	3146	c.3063G>T	c.(3061-3063)agG>agT	p.R1021S	ANK1_ENST00000265709.8_Missense_Mutation_p.R1062S|ANK1_ENST00000289734.7_Missense_Mutation_p.R1021S|ANK1_ENST00000379758.2_Missense_Mutation_p.R1021S|ANK1_ENST00000396945.1_Missense_Mutation_p.R1021S|ANK1_ENST00000352337.4_Missense_Mutation_p.R1021S|ANK1_ENST00000347528.4_Missense_Mutation_p.R1021S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1021					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CATAGCGGCTCCTGTGCTCCT	0.627000													17	110					9.16793e-09	1.00664e-08	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99540715	99540715	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:99540715G>A	ENST00000376460.1	-	17	1956	c.1876C>T	c.(1876-1878)Ccc>Tcc	p.P626S	DOCK9_ENST00000442173.1_Missense_Mutation_p.P626S|DOCK9_ENST00000448493.2_Missense_Mutation_p.P638S|DOCK9_ENST00000339416.2_Missense_Mutation_p.P627S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	627					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTATGCAGGGCACAAATTCC	0.383000													5	47					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66899001	66899001	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:66899001C>T	ENST00000269080.2	-	19	2634	c.2497G>A	c.(2497-2499)Gga>Aga	p.G833R	ABCA8_ENST00000430352.2_Missense_Mutation_p.G873R|ABCA8_ENST00000586539.1_Missense_Mutation_p.G873R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	833						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGGCAAAATCCAGCCATTAGA	0.368000													3	29					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73466165	73466165	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:73466165C>G	ENST00000252034.7	+	16	1284	c.885C>G	c.(883-885)atC>atG	p.I295M	ELN_ENST00000458204.1_Missense_Mutation_p.I285M|ELN_ENST00000358929.4_Missense_Mutation_p.I295M|ELN_ENST00000320492.7_Missense_Mutation_p.I259M|ELN_ENST00000414324.1_Missense_Mutation_p.I290M|ELN_ENST00000429192.1_Missense_Mutation_p.I300M|ELN_ENST00000445912.1_Missense_Mutation_p.I295M|ELN_ENST00000357036.5_Missense_Mutation_p.I300M|ELN_ENST00000380553.4_Missense_Mutation_p.I178M|ELN_ENST00000380584.4_Missense_Mutation_p.I281M|ELN_ENST00000380575.4_Missense_Mutation_p.I285M|ELN_ENST00000380576.5_Missense_Mutation_p.I295M|ELN_ENST00000320399.6_Missense_Mutation_p.I295M|ELN_ENST00000380562.4_Missense_Mutation_p.I295M	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	295	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTGGAGGCATCGCAGGTAACA	0.617000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	49					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228437875	228437875	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:228437875G>C	ENST00000570156.2	+	15	4593	c.4519G>C	c.(4519-4521)Gcg>Ccg	p.A1507P	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1415P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1415P|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	485	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCATGCCAGGCGGACACCGG	0.647000													13	120					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304096	53304096	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:53304096T>G	ENST00000438150.2	-	2	1736	c.843A>C	c.(841-843)aaA>aaC	p.K281N	ZNF28_ENST00000360272.4_Missense_Mutation_p.K281N|ZNF28_ENST00000414252.2_Missense_Mutation_p.K281N|ZNF28_ENST00000457749.2_Missense_Mutation_p.K334N			P17035	ZNF28_HUMAN	zinc finger protein 28	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATGTGAAAGCTTTGTCACAAA	0.348000													5	55					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918982	52918982	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:52918982G>A	ENST00000360465.3	+	7	1303	c.877G>A	c.(877-879)Gga>Aga	p.G293R	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATTCATACTGGAGAGAAGCC	0.378000													5	61					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104384878	104384878	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:104384878C>T	ENST00000520337.1	+	1	218	c.99C>T	c.(97-99)atC>atT	p.I33I	CTHRC1_ENST00000415886.2_Intron|CTHRC1_ENST00000330295.5_Intron	NM_001256099.1	NP_001243028.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	145						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			AGGGGCTCATCTGTGGGAAGG	0.512000													5	57					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810699	65810699	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:65810699C>T	ENST00000312006.4	-	3	856	c.575G>A	c.(574-576)cGc>cAc	p.R192H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R192H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	192					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CTCGCCAGCGCGGTAGTATGC	0.682000													5	37					0	0	1	0	0
TMEM81	388730	broad.mit.edu	37	1	205053403	205053403	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:205053403C>G	ENST00000367167.3	-	1	242	c.46G>C	c.(46-48)Gcc>Ccc	p.A16P		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	16						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AGGTAGAAGGCCAACCCCAGG	0.522000													6	40					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								6	30					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221427	42221427	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:42221427G>A	ENST00000221992.6	+	5	1126	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	CEACAM5_ENST00000405816.1_Missense_Mutation_p.E338K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.E337K|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	338	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CGTGGAGGATGAGGATGCTGT	0.527000													11	92					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66033601	66033601	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:66033601G>A	ENST00000537025.2	+	3	823	c.203G>A	c.(202-204)cGc>cAc	p.R68H	KPNA2_ENST00000330459.3_Missense_Mutation_p.R68H			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	68					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGGAAAACCGCAACAACCAG	0.378000													8	50					0	0	1	0	0
CNOT8	9337	broad.mit.edu	37	5	154250350	154250350	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:154250350C>T	ENST00000517876.1	+	5	917	c.441C>T	c.(439-441)ctC>ctT	p.L147L	CNOT8_ENST00000285896.6_Silent_p.L147L|CNOT8_ENST00000521450.1_Silent_p.L41L|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Silent_p.L41L|CNOT8_ENST00000523698.1_Silent_p.L41L|CNOT8_ENST00000403027.2_Silent_p.L147L|CNOT8_ENST00000520671.1_Silent_p.L41L			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	147					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGTGGTTCTCTGTGACAATG	0.433000													10	61					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101955	81101955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:81101955C>T	ENST00000228641.3	+	1	679	c.457C>T	c.(457-459)Cag>Tag	p.Q153*		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	153					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCGGCTGGATCAGCAGGAGAA	0.587000													12	56					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468294	160468294	+	Silent	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:160468294A>C	ENST00000356956.1	+	16	2303	c.2155A>C	c.(2155-2157)Aga>Cga	p.R719R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	719					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAACAATGAAAGACACACACC	0.483000													7	43					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250194	35250194	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:35250194C>G	ENST00000329285.8	-	4	1885	c.1512G>C	c.(1510-1512)gaG>gaC	p.E504D		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CATAGGGCTTCTCTCCAGTGT	0.433000													7	79					0	0	1	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65338472	65338472	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:65338472G>A	ENST00000360768.3	+	1	219	c.114G>A	c.(112-114)cgG>cgA	p.R38R	VKORC1L1_ENST00000434382.2_Silent_p.R38R	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	38						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	ACGTGGAGCGGGAGAAGGAGC	0.697000													3	26					0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345211	41345211	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:41345211G>A	ENST00000323563.6	-	1	98	c.62C>T	c.(61-63)tCt>tTt	p.S21F		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	21						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CGGGCTTCCAGAGGACAAAGG	0.562000													13	66					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94575253	94575253	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:94575253G>A	ENST00000258526.4	+	3	1484	c.1235G>A	c.(1234-1236)tGt>tAt	p.C412Y	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	412	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTTCAAATTGTCCAGAGGTT	0.294000													6	105					0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53122529	53122529	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:53122529G>C	ENST00000517870.1	+	3	540	c.390G>C	c.(388-390)gtG>gtC	p.V130V	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	130						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGCCAAAAGTGAGCCCTCTCC	0.562000													7	79					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50280020	50280020	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:50280020G>A	ENST00000216268.5	+	2	3187	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGGCTCATTGAGCAGAAAAG	0.597000													5	49					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397028	3397028	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:3397028G>A	ENST00000378378.4	+	15	2412	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E	ARHGEF16_ENST00000378371.2_Silent_p.E381E|ARHGEF16_ENST00000378373.1_Silent_p.E381E|ARHGEF16_ENST00000413250.2_Silent_p.E373E	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	669	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCTATGGCGAGAGGCTCCGGG	0.672000													5	56					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65480988	65480988	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:65480988A>C	ENST00000260641.5	+	5	732	c.575A>C	c.(574-576)tAt>tCt	p.Y192S	ACTR2_ENST00000542850.1_Missense_Mutation_p.Y137S|ACTR2_ENST00000377982.4_Missense_Mutation_p.Y197S	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	192					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ATAACTAGATATCTTATCAAG	0.368000													10	28					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720887	135720887	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:135720887G>C	ENST00000264977.3	+	2	1164	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	183					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCCTCAGTTGAGGAAAAACC	0.413000													12	31					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183707130	183707130	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:183707130C>T	ENST00000334444.6	-	3	411	c.171G>A	c.(169-171)gaG>gaA	p.E57E	ABCC5_ENST00000427120.2_Silent_p.E57E|ABCC5_ENST00000392579.2_Silent_p.E57E|ABCC5_ENST00000382494.2_Silent_p.E57E|ABCC5_ENST00000265586.6_Silent_p.E57E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	57						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGAGAGGCCCTCGGCTCGGG	0.527000													5	91					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1976670	1976670	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:1976670C>T	ENST00000382895.3	+	21	3884	c.3453C>T	c.(3451-3453)ctC>ctT	p.L1151L	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.L499L|WHSC1_ENST00000508803.1_Silent_p.L1151L|WHSC1_ENST00000382892.2_Silent_p.L1151L|WHSC1_ENST00000382891.5_Silent_p.L1151L	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1151	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTGAGACCCTCAAGTGGACAG	0.527000			T	IGH@	MM								7	136					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34649142	34649142	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:34649142C>T	ENST00000374789.3	-	13	2078	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	PARD3_ENST00000374788.3_Missense_Mutation_p.E585K|PARD3_ENST00000374790.3_Missense_Mutation_p.E528K|PARD3_ENST00000374776.1_Missense_Mutation_p.E572K|PARD3_ENST00000350537.4_Missense_Mutation_p.E572K|PARD3_ENST00000346874.4_Missense_Mutation_p.E585K|PARD3_ENST00000374794.3_Missense_Mutation_p.E528K|PARD3_ENST00000374773.1_Missense_Mutation_p.E585K|PARD3_ENST00000374768.1_Missense_Mutation_p.E23K|PARD3_ENST00000545693.1_Missense_Mutation_p.E572K|PARD3_ENST00000545260.1_Missense_Mutation_p.E528K|PARD3_ENST00000544292.1_Missense_Mutation_p.E302K|PARD3_ENST00000340077.5_Missense_Mutation_p.E585K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	585					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTCAGAAATTCCCTGGTGCCA	0.423000													5	32					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76529067	76529067	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:76529067G>C	ENST00000429927.2	-	6	1432	c.729C>G	c.(727-729)atC>atG	p.I243M	CDKL2_ENST00000307465.4_Missense_Mutation_p.I243M	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	243	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTCTTTCCTTGATTTCAGGCA	0.378000													6	81					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120373243	120373243	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:120373243C>G	ENST00000602047.1	+	15	1622	c.510C>G	c.(508-510)agC>agG	p.S170R	PCDP1_ENST00000413369.3_Missense_Mutation_p.S456R|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		456						cilium	calmodulin binding					Colorectal(110;0.196)					CTTGGCTCAGCAGGTCCAGGG	0.368000													3	21					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21247881	21247881	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:21247881G>T	ENST00000233242.1	-	16	2487	c.2360C>A	c.(2359-2361)gCc>gAc	p.A787D	APOB_ENST00000399256.4_Missense_Mutation_p.A787D	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	787					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A787V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGAGACTGGCAAAACCAAG	0.547000													5	78					1	1	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14107535	14107535	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:14107535C>T	ENST00000235372.7	+	8	4101	c.3245C>T	c.(3244-3246)tCa>tTa	p.S1082L	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S881L|PRDM2_ENST00000343137.4_Missense_Mutation_p.S881L|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1082L|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1082						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCGCAATATCATCTGTTGTT	0.458000													7	22					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68835030	68835030	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:68835030G>A	ENST00000294309.3	+	8	887	c.786G>A	c.(784-786)ctG>ctA	p.L262L	TPCN2_ENST00000542467.1_Silent_p.L262L|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	262					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGAGTCTCTGACTTCCCTCC	0.662000													6	105					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24004045	24004045	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:24004045G>C	ENST00000312521.4	+	5	1414	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	365					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GATTTTCTCAGAATGAGAACA	0.368000													4	32					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14862400	14862400	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:14862400G>A	ENST00000315576.3	-	16	2323	c.1872C>T	c.(1870-1872)ctC>ctT	p.L624L	EMR2_ENST00000392965.3_Silent_p.L566L|EMR2_ENST00000595839.1_Silent_p.L482L|EMR2_ENST00000594076.1_Silent_p.L531L|EMR2_ENST00000596991.2_Silent_p.L613L|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000353005.1_Silent_p.L482L|EMR2_ENST00000353876.1_Silent_p.L531L|EMR2_ENST00000594294.1_Silent_p.L575L|EMR2_ENST00000601345.1_Silent_p.L613L|EMR2_ENST00000392967.2_Silent_p.L613L|EMR2_ENST00000346057.1_Silent_p.L575L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	624					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CAGTGAGGAAGAGGTACAGGG	0.547000													10	59					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140297559	140297559	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:140297559C>T	ENST00000296543.5	+	16	2311	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NAA15_ENST00000398947.1_Missense_Mutation_p.P663L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	663					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTTTAACACCGTTGAAGAAC	0.338000													3	28					0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68293237	68293237	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:68293237G>C	ENST00000219345.5	+	6	999	c.916G>C	c.(916-918)Gat>Cat	p.D306H	PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000413021.2_Missense_Mutation_p.D212H|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.D106H	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	306					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGCTTTGAAGATGGCTGGCT	0.577000													4	57					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31232303	31232303	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:31232303G>A	ENST00000255304.4	+	9	2431	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	697					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGTAGAAATTGAGAAGGACGC	0.353000													7	28					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507087	219507087	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:219507087G>A	ENST00000411696.2	-	7	4931	c.4152C>T	c.(4150-4152)ctC>ctT	p.L1384L	ZNF142_ENST00000449707.1_Silent_p.L1384L			P52746	ZN142_HUMAN	zinc finger protein 142	1384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAAAGTCACAGAGCTGACAGC	0.637000													5	44					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47462099	47462099	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:47462099C>T	ENST00000265565.5	-	12	1920	c.1508G>A	c.(1507-1509)aGg>aAg	p.R503K	SCAP_ENST00000441517.2_Missense_Mutation_p.R248K|SCAP_ENST00000545718.1_Missense_Mutation_p.R111K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	503					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AACACGCAGCCTCTTGGGGAG	0.672000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	14					0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26486264	26486264	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:26486264G>A	ENST00000317799.5	+	4	230	c.126G>A	c.(124-126)acG>acA	p.T42T	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Silent_p.T20T|HADHB_ENST00000405867.3_Silent_p.T42T|HADHB_ENST00000537713.1_Silent_p.T42T	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	42					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	p.T42T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCAAAACGAAGAAGACGT	0.328000													16	44					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510157	16510157	+	Splice_Site	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:16510157C>G	ENST00000502640.1	-	7	1040		c.e7+1		LDB2_ENST00000304523.5_Splice_Site|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Splice_Site|LDB2_ENST00000515064.1_Intron|LDB2_ENST00000503178.2_Splice_Site			O43679	LDB2_HUMAN	LIM domain binding 2								LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCGAGACTTACAGGTACCTGA	0.458000													5	65					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018282	62018282	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:62018282C>T	ENST00000435607.1	-	24	5436	c.5360G>A	c.(5359-5361)aGc>aAc	p.S1787N	SCN4A_ENST00000578147.1_Missense_Mutation_p.S1787N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1787					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGCGAGCTGCTGTTCCCATT	0.662000													25	27					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97676935	97676935	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:97676935G>A	ENST00000275053.4	-	14	2139	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F	MMS22L_ENST00000369251.2_Missense_Mutation_p.S585F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	625					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATGTATATGGAAAGAAGGGT	0.403000													4	43					0	0	1	0	0
MCTS1	28985	broad.mit.edu	37	X	119742150	119742150	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:119742150C>G	ENST00000371315.3	+	4	869	c.336C>G	c.(334-336)atC>atG	p.I112M	MCTS1_ENST00000371317.5_Missense_Mutation_p.I111M|MCTS1_ENST00000487133.1_3'UTR	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	111	PUA.				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						GAGCAAATATCATGTGTCCAG	0.388000													3	29					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56511123	56511123	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:56511123C>G	ENST00000390649.3	+	1	32	c.32C>G	c.(31-33)gCt>gGt	p.A11G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	11						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		gaacttggagctgcTGCTCTG	0.522000													11	138					0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36170507	36170507	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:36170507G>A	ENST00000274255.6	+	6	929	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	SKP2_ENST00000546211.1_Missense_Mutation_p.E31K|SKP2_ENST00000274254.5_Missense_Mutation_p.E245K|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	245				SEFA -> PKFP (in Ref. 1; AAC50242).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGATTCTCTGAATTTGCCCT	0.388000													9	84					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722332	196722332	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:196722332G>A	ENST00000312428.6	-	44	8283	c.8183C>T	c.(8182-8184)tCa>tTa	p.S2728L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2728	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTTCCCTGAACCTGTTGG	0.428000													4	22					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57919411	57919411	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:57919411C>T	ENST00000355673.3	+	6	1016	c.660C>T	c.(658-660)atC>atT	p.I220I	MBD6_ENST00000431731.2_Silent_p.I220I	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	220	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding	p.I220I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCTGCTATCAGCCTCAATG	0.647000													14	149					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577000													13	196					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35739844	35739844	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:35739844C>T	ENST00000602122.1	+	1	550	c.63C>T	c.(61-63)caC>caT	p.H21H	LSR_ENST00000347609.4_Silent_p.H21H|LSR_ENST00000354900.3_Silent_p.H21H|LSR_ENST00000361790.3_Silent_p.H21H|LSR_ENST00000597933.1_Intron|LSR_ENST00000360798.3_Silent_p.H21H			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	21					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGAGCGTGCACCCCTCCTGGC	0.637000													5	62					0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147362	1147362	+	Silent	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:1147362G>T	ENST00000379236.3	-	5	598	c.594C>A	c.(592-594)acC>acA	p.T198T		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	198					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCCCTGTGAGGTTCTGGGCC	0.731000													4	25					0.150653	0.152672	1	1	0
ANKRD49	54851	broad.mit.edu	37	11	94231251	94231251	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:94231251G>C	ENST00000544612.1	+	3	770	c.273G>C	c.(271-273)cgG>cgC	p.R91R	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000540349.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.R91R	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	91					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCACAGTGCGGAGACTCCTTT	0.388000													13	21					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408983	105408983	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:105408983C>T	ENST00000333244.5	-	7	12924	c.12805G>A	c.(12805-12807)Gag>Aag	p.E4269K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4269						nucleus		p.E4269K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCGGGGCCTCGACGTCCACC	0.617000													35	171					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143927925	143927925	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:143927925T>A	ENST00000220940.1	+	4	386	c.296T>A	c.(295-297)tTc>tAc	p.F99Y		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	99	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACTAATAGCTTCTACTGGGTT	0.408000													5	37					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120990433	120990433	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:120990433T>C	ENST00000325954.4	+	3	947	c.486T>C	c.(484-486)caT>caC	p.H162H	RNF10_ENST00000413266.2_Silent_p.H162H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	162	Interaction with MEOX2.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGTGGACATGGTAGCTGGG	0.483000													4	43					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599777	116599777	+	Silent	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:116599777A>T	ENST00000395715.3	-	5	2728	c.2151T>A	c.(2149-2151)acT>acA	p.T717T	TRPS1_ENST00000519076.1_Silent_p.T458T|TRPS1_ENST00000520276.1_Silent_p.T708T|TRPS1_ENST00000519674.1_Silent_p.T704T|TRPS1_ENST00000220888.5_Silent_p.T704T	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	704	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTAGTGACTGAGTATCGGCAG	0.502000									Langer-Giedion syndrome				5	92					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11543686	11543686	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:11543686G>A	ENST00000262442.4	+	10	1954	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G629E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAACTTTGGACGCATCACA	0.572000													6	68					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123005614	123005614	+	Missense_Mutation	SNP	C	C	T	rs148824947		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:123005614C>T	ENST00000462833.1	-	20	4787	c.3575G>A	c.(3574-3576)cGa>cAa	p.R1192Q	ADCY5_ENST00000491190.1_Missense_Mutation_p.R850Q|ADCY5_ENST00000309879.5_Missense_Mutation_p.R842Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1192	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTGAGGCTTTCGTGCCCCTAT	0.617000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	41					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53686072	53686072	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:53686072C>T	ENST00000257934.4	+	28	5898	c.5807C>T	c.(5806-5808)tCg>tTg	p.S1936L	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1936L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1936					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.S1936L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TATGGGGCCTCGCCAGTGCTG	0.517000													9	46					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620976	56620976	+	Missense_Mutation	SNP	C	C	T	rs140186503		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:56620976C>T	ENST00000321691.3	-	1	753	c.572G>A	c.(571-573)cGt>cAt	p.R191H	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	191										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAAATCCTACGGGGAACTCT	0.448000													5	87					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237054614	237054614	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:237054614T>C	ENST00000366577.5	+	29	3583	c.3189T>C	c.(3187-3189)taT>taC	p.Y1063Y	MTR_ENST00000535889.1_Silent_p.Y1012Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1063	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CCACCTTCTATGGGTTAAGGC	0.522000													10	58					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511217	195511217	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:195511217C>T	ENST00000463781.3	-	2	7693	c.7234G>A	c.(7234-7236)Ggt>Agt	p.G2412S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2412S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	165					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.592000													2	1					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84784938	84784938	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:84784938A>G	ENST00000389394.3	+	11	1819	c.1682A>G	c.(1681-1683)gAt>gGt	p.D561G	DNAH6_ENST00000237449.6_Missense_Mutation_p.D561G|DNAH6_ENST00000398278.2_Missense_Mutation_p.D561G	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	561	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCGTATTTTGATGCTTTCACC	0.378000													5	73					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43413575	43413575	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:43413575G>A	ENST00000244533.3	+	13	3544	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.R1090Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1090	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1062L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCCTCCTCACGGGAGCTGCGG	0.667000													6	53					0	0	1	0	0
NUDT17	200035	broad.mit.edu	37	1	145586822	145586822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:145586822C>T	ENST00000334513.5	-	7	877	c.866G>A	c.(865-867)tGg>tAg	p.W289*		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	289							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGTTGCAGCCAGAGCTTGAG	0.537000													8	132					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186314737	186314737	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:186314737T>G	ENST00000367478.4	-	24	3484	c.3188A>C	c.(3187-3189)cAa>cCa	p.Q1063P		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACGTCTGGCTTGCTGCTCATT	0.363000			T	NTRK1	papillary thyroid								7	82					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102250292	102250292	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:102250292G>C	ENST00000369138.1	+	8	1672	c.1182G>C	c.(1180-1182)ctG>ctC	p.L394L	GRIK2_ENST00000413795.1_Silent_p.L394L|GRIK2_ENST00000318991.6_Silent_p.L394L|GRIK2_ENST00000369134.4_Silent_p.L345L|GRIK2_ENST00000421544.1_Silent_p.L394L|GRIK2_ENST00000369137.3_Silent_p.L394L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	394					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGATCAGTCTGAAGGAAGAAG	0.363000													4	17					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73829444	73829444	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:73829444G>T	ENST00000264448.6	+	20	12355	c.12244G>T	c.(12244-12246)Gac>Tac	p.D4082Y	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.D4040Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4082					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTCAACATTGACAGGGAACG	0.567000													6	65					1.06961e-07	1.16179e-07	1	1	0
ASPM	259266	broad.mit.edu	37	1	197070086	197070086	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:197070086C>T	ENST00000367409.4	-	18	8551	c.8295G>A	c.(8293-8295)aaG>aaA	p.K2765K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2765	IQ 31.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGGCTGCCATCTTTTCCTCTG	0.358000													6	37					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791155	110791155	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:110791155C>T	ENST00000327908.3	+	4	1465	c.701C>T	c.(700-702)tCc>tTc	p.S234F	LRIT3_ENST00000409621.2_Missense_Mutation_p.S234F|LRIT3_ENST00000594814.1_Missense_Mutation_p.S417F|LRIT3_ENST00000379920.3_Missense_Mutation_p.S372F			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	372	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		cctttctcctcctccactgtt	0.473000													5	40					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125780889	125780889	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:125780889T>A	ENST00000346248.5	-	6	1872	c.1230A>T	c.(1228-1230)aaA>aaT	p.K410N	CHST15_ENST00000421115.1_Missense_Mutation_p.K410N|CHST15_ENST00000435907.1_Missense_Mutation_p.K410N	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	410					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGTCCGCGGATTTATTCGAAC	0.428000													4	29					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486396	94486396	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:94486396G>C	ENST00000375708.3	-	9	2578	c.2380C>G	c.(2380-2382)Ccg>Gcg	p.P794A	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	794	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGAAGGGCGGGGCCTTCTGC	0.672000													7	67					0	0	1	0	0
PITX3	5309	broad.mit.edu	37	10	103990735	103990735	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:103990735G>A	ENST00000370002.3	-	4	598	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	PITX3_ENST00000539804.1_Missense_Mutation_p.P149S	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	149					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGTAGCCGGGGTACACCTCC	0.682000													3	10					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27892170	27892170	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:27892170G>C	ENST00000326019.6	+	5	1543	c.1261G>C	c.(1261-1263)Gga>Cga	p.G421R		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	421						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CATTCACTCAGGAAAGAAAAA	0.443000													7	128					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195475816	195475816	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:195475816G>A	ENST00000463781.3	-	24	16450	c.15991C>T	c.(15991-15993)Cat>Tat	p.H5331Y	MUC4_ENST00000346145.4_Missense_Mutation_p.H1095Y|MUC4_ENST00000475231.1_Missense_Mutation_p.H5279Y|MUC4_ENST00000349607.4_Missense_Mutation_p.H1044Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2088					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCCTCCATGGTCACAGTAG	0.647000													16	65					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169862	113169862	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:113169862G>C	ENST00000401783.2	-	38	8354	c.8018C>G	c.(8017-8019)tCa>tGa	p.S2673*	SVEP1_ENST00000374469.1_Nonsense_Mutation_p.S2650*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.S599*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2673	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAAAGTTTGATGAATGTGT	0.443000													21	99					0	0	1	0	0
PPIL1	51645	broad.mit.edu	37	6	36839530	36839530	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:36839530C>G	ENST00000373699.5	-	2	426	c.175G>C	c.(175-177)Gac>Cac	p.D59H		NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	59	Cyclosporin A binding.|PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ATCATGAAGTCTTTGATAATT	0.403000													5	92					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33117905	33117905	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:33117905C>A	ENST00000323959.4	-	15	1461	c.1322G>T	c.(1321-1323)gGa>gTa	p.G441V	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	441					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGGAATGTCTCCATATTTTTT	0.328000													4	33					0.184627	0.186166	1	1	0
OR2AG2	338755	broad.mit.edu	37	11	6789858	6789858	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:6789858C>G	ENST00000338569.2	-	1	428	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGAGGTCCTCAGCGCTACCC	0.522000													7	31					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564616	8564616	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:8564616G>C	ENST00000423345.4	-	2	596	c.76C>G	c.(76-78)Cag>Gag	p.Q26E	PRAM1_ENST00000255612.3_Missense_Mutation_p.Q26E			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	26							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCTCCGGCTGAGAGGCCTGG	0.567000													4	24					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29088013	29088013	+	RNA	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:29088013C>A	ENST00000564580.1	+	0	183																											ATGATTTTTTCAATTCTCCCC	0.348000													4	32					2.56e-06	2.75587e-06	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101797433	101797433	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:101797433C>T	ENST00000375001.3	+	18	2640	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	739	Nonhelical region 3 (NC3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.F739L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACTTGGATTCGAGGTACTTT	0.562000													4	69					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99515644	99515644	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:99515644C>T	ENST00000376460.1	-	31	3525	c.3445G>A	c.(3445-3447)Gat>Aat	p.D1149N	DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000442173.1_Missense_Mutation_p.D1149N|DOCK9_ENST00000448493.2_Missense_Mutation_p.D1161N|DOCK9_ENST00000339416.2_Missense_Mutation_p.D1150N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1150					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATCTGTCATCAAAAGAATGC	0.458000													13	91					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31386304	31386304	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:31386304C>G	ENST00000328111.2	+	15	1850	c.1529C>G	c.(1528-1530)aCa>aGa	p.T510R	DNMT3B_ENST00000443239.3_Missense_Mutation_p.T448R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.T490R|DNMT3B_ENST00000456297.2_Missense_Mutation_p.T414R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T490R|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T502R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T490R|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	510	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGTGGGCACAGGCACAGCG	0.642000													5	64					0	0	1	0	0
RFNG	5986	broad.mit.edu	37	17	80007647	80007647	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:80007647T>A	ENST00000310496.4	-	6	741	c.734A>T	c.(733-735)gAg>gTg	p.E245V	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Missense_Mutation_p.E119V	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	245					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGGAGCCCCTCCACGATGTA	0.667000													4	25					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152255	58152255	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:58152255G>C	ENST00000544273.1	+	5	764	c.437G>C	c.(436-438)gGg>gCg	p.G146A	ZNF211_ENST00000254182.7_Missense_Mutation_p.G125A|ZNF211_ENST00000420680.1_Missense_Mutation_p.G138A|ZNF211_ENST00000299871.5_Missense_Mutation_p.G199A|ZNF211_ENST00000391703.3_Missense_Mutation_p.G73A|ZNF211_ENST00000347302.3_Missense_Mutation_p.G134A|ZNF211_ENST00000240731.4_Missense_Mutation_p.G147A|ZNF211_ENST00000541801.1_Missense_Mutation_p.G125A			Q13398	ZN211_HUMAN	zinc finger protein 211	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAAACTGCGGGCAGAAACTA	0.443000													4	43					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059082	146059082	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:146059082C>T	ENST00000454497.2	-	21	2787	c.2650G>A	c.(2650-2652)Gca>Aca	p.A884T	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.A949T	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	948							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAAGCCAATGCCGTATCTGCC	0.512000													7	68					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213290744	213290744	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:213290744G>A	ENST00000366960.3	+	5	614	c.464G>A	c.(463-465)aGt>aAt	p.S155N	RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S143N|RPS6KC1_ENST00000490299.1_Intron	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	155					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CCTGAGTGTAGTACGGAAGGT	0.343000													3	21					0	0	1	0	0
OR2A1	346528	broad.mit.edu	37	7	144015489	144015489	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:144015489T>C	ENST00000408951.1	+	1	272	c.272T>C	c.(271-273)aTc>aCc	p.I91T	OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GCCAAGCCCATCTCCTTTGCT	0.562000													9	180					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228042	112228042	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:112228042G>A	ENST00000391338.1	+	1	730	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						CAGCGAGGAAGAAACCTACCA	0.473000													5	53					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071385	197071385	+	Silent	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:197071385T>A	ENST00000367409.4	-	18	7252	c.6996A>T	c.(6994-6996)cgA>cgT	p.R2332R	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2332	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTGCATCTCTCGCATCCTTT	0.403000													6	47					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23244787	23244787	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:23244787C>G	ENST00000298032.5	+	4	302	c.218C>G	c.(217-219)aCt>aGt	p.T73S	ARMC3_ENST00000409049.3_Missense_Mutation_p.T73S|ARMC3_ENST00000409983.3_Missense_Mutation_p.T73S|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_5'UTR	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	73							binding	p.T73N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAACCTTTAACTAAGCTACTC	0.348000													5	15					0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29965261	29965261	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:29965261G>A	ENST00000216121.7	-	4	542	c.288C>T	c.(286-288)ccC>ccT	p.P96P		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	96								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GGTGAAGCTTGGGCAGCACAG	0.592000													5	29					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393234	233393234	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:233393234C>T	ENST00000258385.3	+	5	409	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CHRND_ENST00000543200.1_Missense_Mutation_p.S111F|CHRND_ENST00000457943.2_Missense_Mutation_p.P36S|CHRND_ENST00000536614.1_Missense_Mutation_p.S126F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	126					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TTCCAGATCTCCTACTCCTGC	0.587000													38	111					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749802	2749802	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:2749802A>T	ENST00000382611.6	-	2	597	c.349T>A	c.(349-351)Tac>Aac	p.Y117N	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.Y117N	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TTCTTGCGGTACGCGGGGTCG	0.677000													24	117					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038028	16038028	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:16038028G>A	ENST00000402119.4	-	4	945	c.519C>T	c.(517-519)atC>atT	p.I173I	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Silent_p.I173I|CYP4F11_ENST00000326742.8_Silent_p.I173I	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCACGTGCATGATGTTCACAC	0.512000													5	48					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994622	144994622	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:144994622T>C	ENST00000369359.4	-	4	559	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	PDE4DIP_ENST00000369347.4_Missense_Mutation_p.Y37C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Y37C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Y103C|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.Y174C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Y37C|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Y37C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Y37C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Y174C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	37					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGGCCTCATACTTCTGTTG	0.607000			T	PDGFRB	MPD								7	147					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19378188	19378188	+	Splice_Site	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr18:19378188T>A	ENST00000261537.6	+	8	1500	c.1236T>A	c.(1234-1236)ggT>ggA	p.G412G	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	412					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGCATCTGGTGGTATGTTTT	0.383000													4	36					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42905670	42905670	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:42905670C>T	ENST00000372565.3	-	4	720	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	ZMYND12_ENST00000433602.2_Missense_Mutation_p.E41K	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	151						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATAGATATTCTTCAGCCTGA	0.438000													8	50					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420094	74420094	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:74420094C>T	ENST00000377669.2	-	3	566	c.540G>A	c.(538-540)ctG>ctA	p.L180L	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.L180L	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	180					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GAACATGACTCAGTTTGTTAG	0.512000													5	41					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676285	100676285	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:100676285A>G	ENST00000306151.4	+	3	1652	c.1588A>G	c.(1588-1590)Acc>Gcc	p.T530A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	530	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCAAC	0.493000													39	484					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496540	34496540	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:34496540G>C	ENST00000538621.1	+	4	587	c.342G>C	c.(340-342)aaG>aaC	p.K114N	PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K72N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.K114N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	114					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGAAGGTGAAGAACTGGCAGA	0.567000													8	196					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525040	61525040	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:61525040C>T	ENST00000266070.4	-	12	3404	c.3079G>A	c.(3079-3081)Gtt>Att	p.V1027I	DIDO1_ENST00000395343.1_Missense_Mutation_p.V1027I|DIDO1_ENST00000395335.2_Missense_Mutation_p.V1027I|DIDO1_ENST00000395340.1_Missense_Mutation_p.V1027I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1027					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GACGGAGGAACTGACAGGTAT	0.453000													5	72					0	0	1	0	0
CDCA3	83461	broad.mit.edu	37	12	6958960	6958960	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:6958960T>C	ENST00000422785.3	-	4	417	c.313A>G	c.(313-315)Aat>Gat	p.N105D	CDCA3_ENST00000540683.1_Missense_Mutation_p.N105D|CDCA3_ENST00000535406.1_Missense_Mutation_p.N105D|CDCA3_ENST00000229265.6_Intron|CDCA3_ENST00000538862.2_Missense_Mutation_p.N105D			Q99618	CDCA3_HUMAN	cell division cycle associated 3	105	F-box-like.				cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GGGGGAAGATTTGATTTAGAG	0.483000													10	59					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27233253	27233253	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:27233253A>C	ENST00000332830.4	-	15	3773	c.2963T>G	c.(2962-2964)cTc>cGc	p.L988R	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	988					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTTGAGAGAGAGCTTCTCGGC	0.612000													6	34					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53687250	53687250	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:53687250C>T	ENST00000257934.4	+	31	6446	c.6355C>T	c.(6355-6357)Ctg>Ttg	p.L2119L	ESPL1_ENST00000552462.1_Silent_p.L2119L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2119					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCTGTCTCTCTGCGGTAACC	0.483000													4	35					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753185	41753185	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:41753185G>A	ENST00000359201.5	+	5	1078	c.489G>A	c.(487-489)ctG>ctA	p.L163L	PRICKLE4_ENST00000458694.1_Silent_p.L163L|PRICKLE4_ENST00000394260.1_Silent_p.L123L|PRICKLE4_ENST00000394259.1_Silent_p.L123L|PRICKLE4_ENST00000394263.1_Silent_p.L163L			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	123	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCAGGCCCTGATAAACCTCA	0.617000													12	46					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967549	58967549	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:58967549T>G	ENST00000391696.1	+	3	2140	c.1208T>G	c.(1207-1209)tTt>tGt	p.F403C	ZNF324B_ENST00000336614.4_Missense_Mutation_p.F413C|ZNF324B_ENST00000545523.1_Missense_Mutation_p.F413C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCTCGCTCTTTTTGCACCAG	0.657000													4	70					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77549660	77549660	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:77549660G>C	ENST00000416283.2	+	8	865	c.739G>C	c.(739-741)Gat>Cat	p.D247H	PHTF2_ENST00000275575.7_Missense_Mutation_p.D243H|PHTF2_ENST00000422959.2_Missense_Mutation_p.D247H|PHTF2_ENST00000424760.1_Missense_Mutation_p.D243H|PHTF2_ENST00000248550.7_Missense_Mutation_p.D281H|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000415251.2_Missense_Mutation_p.D243H|PHTF2_ENST00000307305.8_Missense_Mutation_p.D243H|PHTF2_ENST00000450574.1_Missense_Mutation_p.D247H	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGTATCCCTTGATGGGAAGAA	0.368000													4	14					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975068	118975068	+	Translation_Start_Site	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:118975068G>T	ENST00000296499.5	+	2	406	c.3G>T	c.(1-3)atG>atT	p.M1I	NDST3_ENST00000433996.2_Start_Codon_SNP_p.M1I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	1						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCTACAACATGAGTTTTATCA	0.383000													4	34					0.00909568	0.00927974	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	44					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132441147	132441147	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:132441147T>A	ENST00000326682.8	-	1	129	c.53A>T	c.(52-54)gAc>gTc	p.D18V	NPHP3_ENST00000343113.4_Missense_Mutation_p.D18V|NPHP3_ENST00000337331.5_Missense_Mutation_p.D18V|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000383282.2_Missense_Mutation_p.D18V			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	18					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCGTACGTGTCCTCGATCAC	0.721000													5	26					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760714	133760714	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:133760714C>T	ENST00000318560.5	+	11	3418	c.3037C>T	c.(3037-3039)Cgg>Tgg	p.R1013W		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1013	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGTGTCTCTTCGGAAAACCCG	0.647000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								9	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453644	179453644	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:179453644G>A	ENST00000589042.1	-	304	63032	c.62808C>T	c.(62806-62808)ttC>ttT	p.F20936F	TTN_ENST00000342175.6_Silent_p.F12063F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.F19295F|TTN_ENST00000460472.2_Silent_p.F11871F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.F18368F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.F11996F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19295	Ig-like 112.						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)			CACGGACTCTGAAAATATATT	0.428000													3	15					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41450572	41450572	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:41450572C>T	ENST00000372621.4	+	3	754	c.246C>T	c.(244-246)ctC>ctT	p.L82L	CTPS1_ENST00000543104.1_Silent_p.L89L|CTPS1_ENST00000372616.1_Silent_p.L82L|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	82					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	p.L82L(2)		endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	ACATCCGCCTCACCAAGGACA	0.458000													4	67					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71953019	71953019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:71953019G>T	ENST00000355327.3	+	8	1437	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Nonsense_Mutation_p.E75*|THSD4_ENST00000261862.6_Nonsense_Mutation_p.E435*			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	435						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAGATTCCCGAGGGAGCCAC	0.542000													6	66					0.00116845	0.00120839	1	1	0
ELK4	2005	broad.mit.edu	37	1	205592849	205592849	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:205592849C>T	ENST00000357992.4	-	2	501	c.162G>A	c.(160-162)atG>atA	p.M54I	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.M54I	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGTCATAATTCATGTTAGGCT	0.443000			T	SLC45A3	prostate								10	129					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84230961	84230961	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:84230961C>G	ENST00000376499.3	-	11	1918	c.854G>C	c.(853-855)aGc>aCc	p.S285T	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	285	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AGCTGGACTGCTAGAAGCATC	0.507000													4	61					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169596	207169596	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:207169596A>C	ENST00000374423.3	+	5	730	c.344A>C	c.(343-345)gAa>gCa	p.E115A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	115							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAACCTATTGAAGAGTTACAT	0.463000													3	21					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1565853	1565853	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:1565853C>G	ENST00000357210.4	+	20	3201	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000520777.1_Silent_p.L1048L|MIB2_ENST00000378708.1_Silent_p.L901L|MIB2_ENST00000360522.4_Silent_p.L960L|MIB2_ENST00000504599.1_Silent_p.L951L|MIB2_ENST00000518681.1_Silent_p.L987L|MIB2_ENST00000378710.3_Silent_p.L959L|MIB2_ENST00000355826.5_Silent_p.L1038L|MIB2_ENST00000505820.2_Silent_p.L1052L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	995					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.L995L(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTCCGCGCTCAGCGCCTGCC	0.716000													4	15					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610073	47610073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:47610073G>T	ENST00000371891.3	+	7	866	c.835G>T	c.(835-837)Gag>Tag	p.E279*	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.E279*|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G227V	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	279						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAGGAGGGGGAGCTGGAGAA	0.532000													7	83					1.33987e-11	1.47924e-11	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157528054	157528054	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:157528054G>C	ENST00000346085.5	+	20	5780	c.5779G>C	c.(5779-5781)Gac>Cac	p.D1927H	ARID1B_ENST00000367148.1_Missense_Mutation_p.D1967H|ARID1B_ENST00000350026.5_Missense_Mutation_p.D1914H|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1909H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1914					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGGAGCCGAGACGAGACTCC	0.567000													16	52					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866360	7866360	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:7866360G>T	ENST00000378789.3	-	6	1016	c.965C>A	c.(964-966)gCt>gAt	p.A322D		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	322	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TACCTGGAAAGCTAAGCCCCA	0.433000													11	97					3.27435e-08	3.57578e-08	1	1	0
CPT1C	126129	broad.mit.edu	37	19	50195610	50195610	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:50195610C>G	ENST00000392518.4	+	3	473	c.101C>G	c.(100-102)tCt>tGt	p.S34C	CPT1C_ENST00000598714.1_3'UTR|CPT1C_ENST00000323446.5_Missense_Mutation_p.S34C|CPT1C_ENST00000598293.1_Missense_Mutation_p.S34C|CPT1C_ENST00000405931.2_Missense_Mutation_p.S34C|CPT1C_ENST00000354199.5_Missense_Mutation_p.S34C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	34					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCTACCTCTCTGGCCTGCGC	0.622000													9	43					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868164	39868164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:39868164G>T	ENST00000314471.6	+	10	2179	c.1144G>T	c.(1144-1146)Gag>Tag	p.E382*	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Nonsense_Mutation_p.E382*	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	382							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGCTCTGCAGGAGCTGCAGCA	0.607000													6	80					1.06961e-07	1.16179e-07	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	97009195	97009195	+	Silent	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:97009195C>A	ENST00000216277.8	+	14	1474	c.1254C>A	c.(1252-1254)ccC>ccA	p.P418P	PAPOLA_ENST00000392990.2_Silent_p.P418P	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	418					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.P418P(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATGTGAATCCCCAGTCATTTC	0.388000													5	76					0.014758	0.0150313	1	1	0
KDM4A	9682	broad.mit.edu	37	1	44128690	44128690	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:44128690T>C	ENST00000372396.3	+	5	689	c.555T>C	c.(553-555)ttT>ttC	p.F185F	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	185	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGACATCCTTTGCTTGGCACA	0.522000													8	115					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789575	48789575	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:48789575G>A	ENST00000595607.1	+	6	1188	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	ZNF114_ENST00000315849.1_Missense_Mutation_p.E232K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E198K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E232K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AGCTTTCCGTGAAGACGGATC	0.468000													8	68					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63085579	63085579	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:63085579G>A	ENST00000263991.5	+	8	1155	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	EHBP1_ENST00000354487.3_Intron|EHBP1_ENST00000405015.3_Intron|EHBP1_ENST00000405289.1_Intron|EHBP1_ENST00000431489.1_Intron	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	225						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAGCTTAGATGAAGATCAAGA	0.388000													6	70					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985577	34985577	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:34985577T>A	ENST00000360359.3	+	11	1889	c.1751T>A	c.(1750-1752)tTg>tAg	p.L584*	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	584						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGAAACTTTGACTCACACA	0.637000													8	135					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631423	116631423	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:116631423G>C	ENST00000395715.3	-	3	1479	c.902C>G	c.(901-903)tCt>tGt	p.S301C	TRPS1_ENST00000519076.1_Missense_Mutation_p.S242C|TRPS1_ENST00000520276.1_Missense_Mutation_p.S292C|TRPS1_ENST00000519674.1_Missense_Mutation_p.S288C|TRPS1_ENST00000220888.5_Missense_Mutation_p.S288C	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	288					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGCACACCAGAAAACACAGA	0.438000									Langer-Giedion syndrome				6	43					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619468	64619468	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:64619468G>C	ENST00000498707.1	-	13	2286	c.1944C>G	c.(1942-1944)gaC>gaG	p.D648E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D620E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	648	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATCTCGGAAGTCTCGCTTCT	0.438000													5	77					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86126190	86126190	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:86126190T>C	ENST00000278487.3	+	12	1810	c.731T>C	c.(730-732)aTc>aCc	p.I244T	CCDC81_ENST00000445632.2_Missense_Mutation_p.I509T|CCDC81_ENST00000528728.1_Missense_Mutation_p.I244T|CCDC81_ENST00000354755.1_Missense_Mutation_p.I419T			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	509										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCTGAGCCCATCTTTGGTAAG	0.458000													4	29					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40757392	40757392	+	Splice_Site	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:40757392A>G	ENST00000373198.4	-	20	3140		c.e20+1		PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAAGACACTCACGTCAATGTA	0.557000													6	81					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652306	108652306	+	Missense_Mutation	SNP	C	C	T	rs7883913	byFrequency	TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:108652306C>T	ENST00000218006.2	-	9	2174	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	628	Protein kinase.		R -> Q (in dbSNP:rs7883913).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TAGGCTCCCTCGGGAACAGAA	0.403000													10	35					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524847	10524847	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:10524847G>A	ENST00000396560.2	+	3	597	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.E124K|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.E124K|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.E124K|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TAGAACAACAGAATCCCCCAG	0.373000													4	40					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135279335	135279335	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:135279335G>T	ENST00000285968.6	+	13	1897	c.1871G>T	c.(1870-1872)tGg>tTg	p.W624L	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	624					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CACCCTCAGTGGACCCCTGTT	0.433000													5	51					8.12818e-05	8.59712e-05	1	1	0
GEN1	348654	broad.mit.edu	37	2	17954014	17954014	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:17954014G>A	ENST00000381254.2	+	8	1130	c.916G>A	c.(916-918)Gat>Aat	p.D306N	GEN1_ENST00000317402.7_Missense_Mutation_p.D306N|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	306					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACAGAACATGATAGGCAACT	0.358000								Homologous recombination					4	15					0	0	1	0	0
CGB	1082	broad.mit.edu	37	19	49526183	49526183	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:49526183C>A	ENST00000357383.4	-	3	819	c.458G>T	c.(457-459)cGa>cTa	p.R153L		NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	153					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	CCCCGGGAGTCGGGATGGGCT	0.632000													48	32					4.1673e-28	4.60917e-28	1	1	0
ADTRP	84830	broad.mit.edu	37	6	11778902	11778902	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:11778902C>T	ENST00000414691.3	-	1	501	c.91G>A	c.(91-93)Gag>Aag	p.E31K	ADTRP_ENST00000379413.2_Missense_Mutation_p.E31K|ADTRP_ENST00000229583.5_Missense_Mutation_p.E31K	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	31						integral to membrane		p.E31*(1)									GGTTTCACCTCGTCTTTTCCT	0.433000													7	79					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121258347	121258347	+	Silent	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:121258347G>C	ENST00000264233.5	-	4	692	c.564C>G	c.(562-564)gtC>gtG	p.V188V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	188	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAATTGTGCAGACTGCAATAT	0.383000								DNA polymerases (catalytic subunits)					5	43					0	0	1	0	0
MBLAC2	153364	broad.mit.edu	37	5	89757191	89757191	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:89757191A>G	ENST00000316610.6	-	2	1108	c.633T>C	c.(631-633)acT>acC	p.T211T		NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	211							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GACGTTCACAAGTTCCAACAT	0.448000													6	45					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37592179	37592179	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:37592179G>C	ENST00000284437.6	+	3	680	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.E168Q	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	168										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCTCCTTCTGAGGCAGAAAG	0.537000													12	62					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39062779	39062779	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:39062779G>A	ENST00000355481.4	+	94	13983	c.13852G>A	c.(13852-13854)Gat>Aat	p.D4618N	RYR1_ENST00000360985.3_Missense_Mutation_p.D4618N|RYR1_ENST00000359596.3_Missense_Mutation_p.D4623N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4623					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)	GGCAGAGGGCGATGAGGATGA	0.617000													7	131					0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128116867	128116867	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:128116867G>A	ENST00000262432.8	+	1	85	c.48G>A	c.(46-48)aaG>aaA	p.K16K	METTL2B_ENST00000480046.1_5'UTR|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	16							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCGCCGATAAGAGGCAGCAGT	0.637000											OREG0018295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	53					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20183019	20183019	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:20183019C>T	ENST00000379565.3	-	18	1969	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E559K|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E558K|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E560K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	588	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACAATTACCTCTGGTGCAACA	0.328000													3	13					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957396	73957396	+	Silent	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:73957396T>A	ENST00000358602.4	-	29	6065	c.5949A>T	c.(5947-5949)acA>acT	p.T1983T	ANKRD17_ENST00000330838.6_Silent_p.T1732T|ANKRD17_ENST00000509867.2_Silent_p.T1870T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1983	Ser-rich.|Thr-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTTGTAGATGTACCAGGCA	0.468000													17	226					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295255	19295255	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:19295255G>A	ENST00000328405.2	+	2	452	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	62	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAGTCATGCAGAAGAGTTGTA	0.463000													10	101					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52056620	52056620	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:52056620G>C	ENST00000354534.6	+	2	197	c.19G>C	c.(19-21)Gca>Cca	p.A7P	SCN8A_ENST00000550891.1_Missense_Mutation_p.A7P|SCN8A_ENST00000545061.1_Missense_Mutation_p.A7P	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGGCTGCTTGCACCACCAGG	0.537000													11	167					0	0	1	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373586	110373586	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:110373586G>A	ENST00000356454.3	+	1	1676	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	507																	GGGGAGGAACGACCTGTTAAA	0.493000													13	35					0	0	1	0	0
TOLLIP	54472	broad.mit.edu	37	11	1298402	1298402	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:1298402T>C	ENST00000527886.1	-	6	865	c.485A>G	c.(484-486)gAg>gGg	p.E162G	TOLLIP_ENST00000542915.1_Missense_Mutation_p.E181G|TOLLIP_ENST00000527938.1_3'UTR|TOLLIP_ENST00000317204.6_Missense_Mutation_p.E231G|TOLLIP_ENST00000525159.1_Missense_Mutation_p.E170G|TOLLIP_ENST00000263646.7_Missense_Mutation_p.E203G			Q9H0E2	TOLIP_HUMAN	toll interacting protein	231					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CAGGTCCTCCTCGCTACAGCG	0.652000													6	66					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138403466	138403466	+	Splice_Site	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:138403466C>T	ENST00000477593.1	-	16	2389		c.e16+1		PIK3CB_ENST00000544716.1_Splice_Site|PIK3CB_ENST00000289153.2_Splice_Site			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta						activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAGTCACTTACTAGAGTTCTG	0.502000													5	37					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154523767	154523767	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:154523767C>T	ENST00000409663.3	+	23	2576	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C	KIAA0922_ENST00000440693.1_Missense_Mutation_p.R759C|KIAA0922_ENST00000409959.3_Missense_Mutation_p.R843C	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	842						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCTAGAATTTCGCTTCACTCT	0.498000													8	63					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086402	110086402	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:110086402G>A	ENST00000527748.1	+	2	1441	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	253						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGACACCCCGGCAACGCTCC	0.667000													6	91					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479840	4479840	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:4479840T>C	ENST00000237837.1	-	3	570	c.425A>G	c.(424-426)aAg>aGg	p.K142R		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	142					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GAAGGCTCTCTTCGCCCGGCC	0.592000													9	96					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142232402	142232402	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:142232402G>A	ENST00000350721.4	-	26	4703	c.4582C>T	c.(4582-4584)Ctt>Ttt	p.L1528F	ATR_ENST00000383101.3_Missense_Mutation_p.L1464F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1528					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTGGAAGAAGATAGATGGTC	0.368000								Other conserved DNA damage response genes					6	42					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25296636	25296636	+	RNA	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:25296636A>G	ENST00000549804.2	+	0	98				SNHG14_ENST00000547292.1_RNA|SNORD116-1_ENST00000384335.1_RNA|RP11-701H24.10_ENST00000552781.1_RNA																							ATCGATGATGAGTCCCCTATA	0.473000													5	79					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006761	9006761	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:9006761C>T	ENST00000397910.4	-	44	39690	c.39487G>A	c.(39487-39489)Ggc>Agc	p.G13163S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13165					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGAGGGCCGGTGGCTATA	0.423000													5	59					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24679577	24679577	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:24679577G>C	ENST00000530611.1	-	5	620	c.587C>G	c.(586-588)tCt>tGt	p.S196C	CHMP4A_ENST00000347519.6_Missense_Mutation_p.S239C|CHMP4A_ENST00000542700.2_5'UTR|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_Missense_Mutation_p.S91C|TM9SF1_ENST00000556387.1_Missense_Mutation_p.S196C|CHMP4A_ENST00000609024.1_Missense_Mutation_p.S196C			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CAGATGAGTAGAAGGTACACT	0.507000													6	118					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585841	49585841	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:49585841C>T	ENST00000371175.4	-	3	458	c.432G>A	c.(430-432)atG>atA	p.M144I	RHAG_ENST00000229810.7_Missense_Mutation_p.M144I	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	144					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTAAAATTGTCATGATCAGCA	0.388000													4	22					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19049980	19049980	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:19049980C>T	ENST00000380527.1	+	1	609	c.323C>T	c.(322-324)tCg>tTg	p.S108L		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	108					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TATTACCAGTCGTGTCTGGAG	0.488000													4	20					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133804185	133804185	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:133804185G>T	ENST00000367895.5	+	13	1587	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	EYA4_ENST00000355286.6_Missense_Mutation_p.D352Y|EYA4_ENST00000355167.3_Missense_Mutation_p.D375Y|EYA4_ENST00000531901.1_Missense_Mutation_p.D381Y|EYA4_ENST00000431403.2_Missense_Mutation_p.D375Y|EYA4_ENST00000452339.2_Missense_Mutation_p.D321Y|EYA4_ENST00000430974.2_Missense_Mutation_p.D327Y|EYA4_ENST00000525849.1_Missense_Mutation_p.D352Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	375					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTTTGTCTGGGATTTGGATGA	0.363000													3	28					1	1	1	1	0
GRIA3	2892	broad.mit.edu	37	X	122459964	122459964	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chrX:122459964T>C	ENST00000264357.5	+	4	888	c.596T>C	c.(595-597)gTc>gCc	p.V199A	GRIA3_ENST00000371256.5_Missense_Mutation_p.V199A|GRIA3_ENST00000541091.1_Missense_Mutation_p.V183A|GRIA3_ENST00000371251.1_Missense_Mutation_p.V199A|GRIA3_ENST00000542149.1_Missense_Mutation_p.V199A	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	199					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATAAAGGACGTCCAAGAATTC	0.443000													5	28					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47918515	47918515	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr18:47918515G>C	ENST00000285116.3	+	7	877	c.666G>C	c.(664-666)ttG>ttC	p.L222F	SKA1_ENST00000417656.2_Missense_Mutation_p.L176F|SKA1_ENST00000488454.1_Missense_Mutation_p.L71F|SKA1_ENST00000398452.2_Missense_Mutation_p.L222F	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	222					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TCACAACTTTGAAAGCTGACA	0.383000													4	43					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													5	50					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79455659	79455659	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:79455659C>T	ENST00000264895.6	+	71	11422	c.10982C>T	c.(10981-10983)tCa>tTa	p.S3661L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3656					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTGTGTATTCACTTAACACT	0.438000													5	55					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60747337	60747337	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:60747337C>G	ENST00000261520.4	-	8	1042	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	NARG2_ENST00000439632.1_Missense_Mutation_p.E133Q|NARG2_ENST00000561114.1_Missense_Mutation_p.E270Q	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	270						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACAAGCTTCTCTGCATTTGGA	0.318000													4	34					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10863041	10863041	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:10863041G>A	ENST00000381661.3	+	2	175	c.66G>A	c.(64-66)atG>atA	p.M22I	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.M22I	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	22					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TGGAGAGGATGAATACTGTAA	0.438000													4	31					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303257	153303257	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:153303257G>A	ENST00000368739.3	-	9	1454	c.1096C>T	c.(1096-1098)Cat>Tat	p.H366Y	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.H370Y			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	370					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTTTGAAATGAGGCCAGGTG	0.552000													6	55					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18145214	18145214	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:18145214C>T	ENST00000316843.4	+	19	2879	c.2783C>T	c.(2782-2784)tCc>tTc	p.S928F		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	928					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TACCTGATATCCCCATCAGAA	0.577000													4	44					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71834033	71834033	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:71834033C>T	ENST00000266674.5	+	1	484	c.173C>T	c.(172-174)tCg>tTg	p.S58L	LGR5_ENST00000540815.2_Missense_Mutation_p.S58L|TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.S58L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	58	LRRNT.					integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTGGGGCTCTCGGAGCTGCCT	0.607000													31	51					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353689	101353689	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:101353689A>C	ENST00000344327.3	-	5	1925	c.1501T>G	c.(1501-1503)Tgg>Ggg	p.W501G	TRPC6_ENST00000360497.4_Missense_Mutation_p.W446G|TRPC6_ENST00000348423.4_Missense_Mutation_p.W385G|TRPC6_ENST00000532133.1_Missense_Mutation_p.W501G	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	501					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTATTACCCAGGATATAATG	0.383000													4	42					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45943043	45943043	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:45943043G>A	ENST00000348697.2	+	12	1547	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	FBLN1_ENST00000262722.7_Missense_Mutation_p.R467Q|FBLN1_ENST00000340923.5_Missense_Mutation_p.R467Q|FBLN1_ENST00000327858.6_Missense_Mutation_p.R467Q|FBLN1_ENST00000402984.3_Missense_Mutation_p.R505Q|FBLN1_ENST00000442170.2_Missense_Mutation_p.R467Q|FBLN1_ENST00000476366.1_3'UTR			P23142	FBLN1_HUMAN	fibulin 1	467	EGF-like 7; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACTGCCGGCGAGGCTACCAG	0.592000													12	53					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34032094	34032094	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:34032094T>A	ENST00000389232.4	+	51	7788	c.7718T>A	c.(7717-7719)tTg>tAg	p.L2573*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.L2573*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2573	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGGGCCTTGCCACCAGAT	0.463000													7	13					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79173677	79173677	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr4:79173677C>T	ENST00000264895.6	+	5	881	c.441C>T	c.(439-441)agC>agT	p.S147S	FRAS1_ENST00000325942.6_Silent_p.S147S|FRAS1_ENST00000264899.6_Silent_p.S147S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	147	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGAAGGAAGCTGCTGCCCAG	0.572000													7	14					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751463	46751463	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:46751463G>A	ENST00000343304.6	-	4	1351	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	356										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAAGGTGACCGCTTGGTGCCA	0.607000													8	71					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768192	45768192	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:45768192G>A	ENST00000405872.1	-	2	914	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	KCTD4_ENST00000379108.1_Missense_Mutation_p.R171C|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	171						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		AGAACAATGCGAGACTTTATT	0.353000													12	52					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117076972	117076972	+	Missense_Mutation	SNP	C	C	A	rs45574931	byFrequency	TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:117076972C>A	ENST00000320934.3	-	17	2729	c.2099G>T	c.(2098-2100)aGg>aTg	p.R700M	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	700			R -> M (in dbSNP:rs45574931).		peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTCCACTCCTACAAACTTG	0.527000			T	IGH@	MLCLS								13	33					2.23348e-06	2.41296e-06	1	1	0
POU4F3	5459	broad.mit.edu	37	5	145719172	145719172	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:145719172C>T	ENST00000230732.4	+	2	271	c.182C>T	c.(181-183)gCg>gTg	p.A61V	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	61					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCTCTGGCGGCGGTGGAT	0.592000													4	56					0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256579	12256579	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:12256579G>A	ENST00000355738.1	-	4	803	c.454C>T	c.(454-456)Cca>Tca	p.P152S	ZNF625_ENST00000439556.2_Missense_Mutation_p.P218S|ZNF625_ENST00000542938.1_Missense_Mutation_p.P152S|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CATTCATATGGTTTCTCTCCA	0.418000													29	30					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6143264	6143264	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:6143264G>A	ENST00000446108.1	+	3	798	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	RBM17_ENST00000379888.4_Missense_Mutation_p.A52T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	52					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TACAGTCCTCGCCCCAGTCAT	0.468000													5	16					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917012	2917012	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:2917012G>C	ENST00000306908.5	+	4	541	c.393G>C	c.(391-393)aaG>aaC	p.K131N	ZNF57_ENST00000523428.1_Missense_Mutation_p.K99N|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCACAAGAAAGTTTCTG	0.408000													4	40					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044845	56044845	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:56044845T>A	ENST00000244728.5	-	3	568	c.171A>T	c.(169-171)aaA>aaT	p.K57N	COL21A1_ENST00000370819.1_Missense_Mutation_p.K57N|COL21A1_ENST00000535941.1_Missense_Mutation_p.K57N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	57	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CAAGCCACTTTTTCACTATTT	0.393000													4	17					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20920798	20920798	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:20920798G>A	ENST00000263205.7	+	7	804	c.735G>A	c.(733-735)caG>caA	p.Q245Q	MED15_ENST00000542773.1_Silent_p.Q50Q|MED15_ENST00000406969.1_Silent_p.Q219Q|MED15_ENST00000382974.2_Silent_p.Q174Q|MED15_ENST00000425759.2_Silent_p.Q134Q|MED15_ENST00000292733.7_Silent_p.Q245Q|MED15_ENST00000541476.1_Silent_p.Q219Q|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	245	Poly-Gln.			Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			cacagctgcagctccaacaac	0.582000													6	49					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137982996	137982996	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:137982996C>T	ENST00000469044.1	+	14	1512	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	ARMC8_ENST00000538260.1_Missense_Mutation_p.S383F|ARMC8_ENST00000491704.1_Missense_Mutation_p.S372F|NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.S347F|ARMC8_ENST00000485396.1_Missense_Mutation_p.S341F|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.S404F|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.S400F	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	414							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTATCCAGATCTGTGCAGCAG	0.383000													5	44					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96771947	96771947	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:96771947G>A	ENST00000359933.4	-	31	5605	c.4712C>T	c.(4711-4713)aCt>aTt	p.T1571I	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1571										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGCCGGAGAAGTGGGAGGGAC	0.378000													3	21					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183707132	183707132	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:183707132C>T	ENST00000334444.6	-	3	409	c.169G>A	c.(169-171)Gag>Aag	p.E57K	ABCC5_ENST00000427120.2_Missense_Mutation_p.E57K|ABCC5_ENST00000392579.2_Missense_Mutation_p.E57K|ABCC5_ENST00000382494.2_Missense_Mutation_p.E57K|ABCC5_ENST00000265586.6_Missense_Mutation_p.E57K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	57						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGAGGCCCTCGGCTCGGGCT	0.532000													5	94					0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699447	117699447	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:117699447G>C	ENST00000369458.3	-	3	272	c.194C>G	c.(193-195)tCt>tGt	p.S65C	VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Missense_Mutation_p.S68C|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	65	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CACGATATCAGAAAGTTTGAT	0.478000													6	49					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94603380	94603380	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:94603380G>A	ENST00000258526.4	+	5	1703	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	485					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACTTTTCAAGGAGATTGTGTA	0.388000													8	141					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121258343	121258343	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:121258343T>C	ENST00000264233.5	-	4	696	c.568A>G	c.(568-570)Aca>Gca	p.T190A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	190	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCTCAATTGTGCAGACTGCA	0.378000								DNA polymerases (catalytic subunits)					5	41					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691982	116691982	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:116691982C>T	ENST00000357780.3	-	3	906	c.792G>A	c.(790-792)cgG>cgA	p.R264R		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.R264R(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCAGCCTCTGCCGCAGCTCCT	0.652000													8	47					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42474606	42474606	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:42474606G>C	ENST00000545399.1	-	17	2544	c.2391C>G	c.(2389-2391)atC>atG	p.I797M	ATP1A3_ENST00000543770.1_Missense_Mutation_p.I795M|ATP1A3_ENST00000302102.5_Missense_Mutation_p.I784M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.I754M	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	784					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGTTGGCCATGATGAACAGCA	0.602000													4	54					0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74394143	74394143	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:74394143C>T	ENST00000396049.4	-	3	466	c.273G>A	c.(271-273)ccG>ccA	p.P91P	MOB1A_ENST00000409969.2_Silent_p.P91P|MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A						hippo signaling cascade		metal ion binding|protein binding										ATATGTACCTCGGACCTGCAG	0.363000													4	66					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130044470	130044470	+	Silent	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:130044470C>A	ENST00000223208.5	-	6	627	c.357G>T	c.(355-357)tcG>tcT	p.S119S	CEP41_ENST00000541543.1_Silent_p.S103S|CEP41_ENST00000343969.5_Silent_p.S119S	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol											CAGGGCTCGGCGACTGCTCAC	0.473000													4	40					0.00024832	0.00026037	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29990321	29990321	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:29990321G>C	ENST00000308893.4	+	6	1422	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.E127Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.E127Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	127	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TCAGGAGGTAGAGATCGCAGC	0.577000													7	115					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64892868	64892868	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:64892868G>T	ENST00000545908.1	+	11	1482	c.1253G>T	c.(1252-1254)cGc>cTc	p.R418L	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.R362L			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	362	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GCACTAGAACGCCTGAAGCAC	0.463000													5	52					0.000602214	0.000627091	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62018713	62018713	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:62018713G>A	ENST00000435607.1	-	24	5005	c.4929C>T	c.(4927-4929)ttC>ttT	p.F1643F	SCN4A_ENST00000578147.1_Silent_p.F1643F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1643					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGTGTCCACGAAGTCTGAGA	0.567000													6	58					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856301	62856301	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:62856301G>A	ENST00000584306.1	-	11	4493	c.3963C>T	c.(3961-3963)gtC>gtT	p.V1321V	LRRC37A3_ENST00000334962.5_Silent_p.V298V|LRRC37A3_ENST00000400877.3_Silent_p.V359V|LRRC37A3_ENST00000339474.5_Silent_p.V439V|LRRC37A3_ENST00000319651.5_Silent_p.V1321V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1321						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GACTCTTTTTGACCTTGGGTG	0.433000													18	190					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123497265	123497265	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:123497265C>T	ENST00000280562.5	-	4	515	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	PITPNM2_ENST00000542749.1_Missense_Mutation_p.V104M|PITPNM2_ENST00000320201.4_Missense_Mutation_p.V104M|PITPNM2_ENST00000546049.1_Missense_Mutation_p.V104M|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	104					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AATTTCTCCACGAAAGGACAG	0.517000													26	122					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954653	30954653	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:30954653C>A	ENST00000376296.3	+	2	942	c.701C>A	c.(700-702)tCc>tAc	p.S234Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	234	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACGACCTCCAGTGGGGCC	0.642000													34	284					2.38352e-08	2.61237e-08	1	1	0
ATXN7L3	56970	broad.mit.edu	37	17	42272800	42272800	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:42272800C>G	ENST00000389384.4	-	8	916	c.608G>C	c.(607-609)aGc>aCc	p.S203T	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S210T|ATXN7L3_ENST00000593073.1_5'UTR	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	203	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGTTAGCAGGCTGCGAAGCTC	0.577000													5	55					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804566	22804566	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr18:22804566C>G	ENST00000361524.3	-	4	3464	c.3316G>C	c.(3316-3318)Ggc>Cgc	p.G1106R	ZNF521_ENST00000538137.2_Missense_Mutation_p.G1106R|ZNF521_ENST00000584787.1_Missense_Mutation_p.G886R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1106					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACGTTAATGCCTGGGCTGGCG	0.542000			T	PAX5	ALL								4	37					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217106	40217106	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:40217106A>G	ENST00000325157.6	-	5	974	c.724T>C	c.(724-726)Ttt>Ctt	p.F242L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	242										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TCATCCAAAAATGTCATCAGG	0.373000													3	24					0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222903018	222903018	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:222903018C>G	ENST00000340934.5	+	10	1219	c.813C>G	c.(811-813)atC>atG	p.I271M	BROX_ENST00000539697.1_Missense_Mutation_p.I239M|BROX_ENST00000537020.1_Missense_Mutation_p.I271M	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	271	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						GTGAAGCAATCAGGTCTCTCC	0.338000													4	6					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127641305	127641305	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:127641305C>G	ENST00000508053.1	-	50	6546	c.5572G>C	c.(5572-5574)Gat>Cat	p.D1858H	FBN2_ENST00000262464.4_Missense_Mutation_p.D1858H			P35556	FBN2_HUMAN	fibrillin 2	1858	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGAGATTATCACCATTGCTG	0.428000													4	34					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067725	190067725	+	Missense_Mutation	SNP	G	G	T	rs146145589		TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:190067725G>T	ENST00000367462.3	-	8	1955	c.1724C>A	c.(1723-1725)cCc>cAc	p.P575H	BRINP3_ENST00000534846.1_Missense_Mutation_p.P473H	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	575																	GCCTCCGAAGGGATTGACATA	0.463000													10	84					3.86212e-05	4.09927e-05	1	1	0
CDK3	1018	broad.mit.edu	37	17	73998200	73998200	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:73998200G>A	ENST00000425876.2	+	3	380	c.292G>A	c.(292-294)Gag>Aag	p.E98K	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.E98K			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	98	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCCAGGCTCAGAGCTCCCCCT	0.597000													11	74					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13417080	13417080	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:13417080A>C	ENST00000254508.5	-	11	1437	c.1355T>G	c.(1354-1356)aTc>aGc	p.I452S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	452					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGTGATCGGGATGTGAATTTC	0.547000													17	140					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204058599	204058599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:204058599C>T	ENST00000449802.1	+	46	7249	c.6916C>T	c.(6916-6918)Caa>Taa	p.Q2306*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2306							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAACCTGTTTCAACACCTTCC	0.343000													5	40					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26138101	26138101	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr13:26138101C>T	ENST00000381655.2	+	16	1547	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.P429S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	429					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAGTCGGATGCCTCCTCCCTG	0.413000													3	26					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72170547	72170547	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:72170547T>A	ENST00000356056.5	-	31	6237	c.5765A>T	c.(5764-5766)tAt>tTt	p.Y1922F	MYO9A_ENST00000424560.1_Missense_Mutation_p.Y1993F|MYO9A_ENST00000564571.1_Missense_Mutation_p.Y1922F|MYO9A_ENST00000444904.1_Missense_Mutation_p.Y1903F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1922	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGGTCTTTATACCGTATGCT	0.373000													5	19					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892637	166892637	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:166892637A>T	ENST00000423058.2	-	16	3367	c.3350T>A	c.(3349-3351)aTt>aAt	p.I1117N	SCN1A_ENST00000375405.3_Missense_Mutation_p.I1106N|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.I1117N|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1089N	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1117						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCCTACAGCAATTGGTACAGT	0.378000													5	56					0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98118719	98118719	+	Translation_Start_Site	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:98118719T>C	ENST00000419479.1	-	0	373				OPALIN_ENST00000371172.3_De_novo_Start_OutOfFrame|OPALIN_ENST00000393871.1_De_novo_Start_OutOfFrame|OPALIN_ENST00000393870.2_De_novo_Start_OutOfFrame	NM_001040103.1|NM_001284323.1|NM_001284324.1	NP_001035192.1|NP_001271252.1|NP_001271253.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein							Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCACTGGCTTTATTGGCTTGT	0.483000													8	63					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16326809	16326809	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:16326809G>A	ENST00000244769.4	-	8	2669	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	ATXN1_ENST00000436367.1_Missense_Mutation_p.S578F	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	578	AXH.|Interaction with USP7.|RNA-binding.|Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CTGGATGATGGAGCCTTTCAT	0.572000													5	76					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226567695	226567695	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:226567695C>T	ENST00000366794.5	-	10	1614	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	491	Automodification domain.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCCACAACTTCAACAGGCTCT	0.607000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					12	56					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056488	53056488	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:53056488G>A	ENST00000359798.4	+	5	499	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCAGGAAATTGAGAAAGAAAT	0.398000													10	104					0	0	1	0	0
DAZAP2	9802	broad.mit.edu	37	12	51634718	51634718	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:51634718C>T	ENST00000412716.3	+	3	812	c.196C>T	c.(196-198)Cct>Tct	p.P66S	DAZAP2_ENST00000425012.2_Missense_Mutation_p.P66S|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P6S|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000449723.3_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549555.1_Missense_Mutation_p.P66S|DAZAP2_ENST00000604900.1_Missense_Mutation_p.P66S|DAZAP2_ENST00000549732.2_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	66	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						AGCCGCATTTCCTGGAGCCTC	0.532000													20	87					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162875265	162875265	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:162875265G>A	ENST00000360534.3	-	16	1954	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	465					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.A465V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATAATACTTCGCCTCTTTACT	0.473000													4	46					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5923425	5923425	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:5923425G>A	ENST00000378156.4	-	30	4446	c.4181C>T	c.(4180-4182)gCg>gTg	p.A1394V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1394					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACTAGGCGCAAACTGCAA	0.542000													8	131					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31942924	31942924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr22:31942924G>A	ENST00000432498.1	+	5	809	c.416G>A	c.(415-417)tGg>tAg	p.W139*	SFI1_ENST00000443326.1_Nonsense_Mutation_p.W57*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.W139*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.W57*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.W115*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.W57*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.W57*	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	139					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGCACGAGTGGAAACTCTGT	0.413000													6	76					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929577	94929577	+	Silent	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:94929577A>T	ENST00000337425.5	-	5	1235	c.1161T>A	c.(1159-1161)gcT>gcA	p.A387A	SERPINA9_ENST00000298845.7_Silent_p.A287A|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Silent_p.A238A|SERPINA9_ENST00000380365.3_Silent_p.A369A|SERPINA9_ENST00000448305.2_Silent_p.A289A	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	369					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGGTGGTGGTAGCTGCTGTGG	0.507000													12	54					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277970	186277970	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:186277970T>C	ENST00000445192.2	+	7	3164	c.3119T>C	c.(3118-3120)aTg>aCg	p.M1040T	PRG4_ENST00000367484.3_Missense_Mutation_p.M569T|PRG4_ENST00000367483.4_Missense_Mutation_p.M999T|PRG4_ENST00000367486.3_Missense_Mutation_p.M997T|PRG4_ENST00000367485.4_Missense_Mutation_p.M947T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1040					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAAAACAATGCCTAGAGTG	0.438000													5	84					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190603367	190603367	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:190603367A>T	ENST00000520309.1	+	19	3747	c.3659A>T	c.(3658-3660)gAt>gTt	p.D1220V	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.D1220V|ANKAR_ENST00000431575.2_Missense_Mutation_p.D1149V|ANKAR_ENST00000438402.2_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1220						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTTTAGTTGATAGTCTGTAT	0.318000													3	20					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566143	19566143	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:19566143C>G	ENST00000328041.6	+	6	764	c.567C>G	c.(565-567)ttC>ttG	p.F189L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	189						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGCGGTATTCAACATCCTGT	0.547000													14	116					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	305972	305972	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:305972G>C	ENST00000428720.1	-	11	1895	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	SLC6A12_ENST00000397296.2_Missense_Mutation_p.F384L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.F384L|SLC6A12_ENST00000424061.2_Missense_Mutation_p.F384L|SLC6A12_ENST00000536824.1_Missense_Mutation_p.F384L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	384					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCATGATAAAGAACAGGCAGG	0.582000													15	88					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128993768	128993768	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:128993768G>A	ENST00000314797.6	+	22	2448	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	782	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										GGTAGGGGATGAATTTGAGAA	0.443000													14	90					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187572	140187572	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:140187572C>G	ENST00000530339.1	+	1	800	c.800C>G	c.(799-801)tCa>tGa	p.S267*	PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.S267*|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Nonsense_Mutation_p.S267*	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)			CTTAACGCCTCAGATTTAGAC	0.358000													3	34					0	0	1	0	0
ZNF154	7710	broad.mit.edu	37	19	58213777	58213777	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:58213777C>A	ENST00000512439.2	-	3	736	c.540G>T	c.(538-540)tgG>tgT	p.W180C	ZNF154_ENST00000426889.1_Missense_Mutation_p.W180C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	180						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGAAGTCTCCAATGGTCAT	0.453000													10	89					2.74318e-10	3.02299e-10	1	1	0
ACTL8	81569	broad.mit.edu	37	1	18152615	18152615	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:18152615G>C	ENST00000375406.1	+	3	918	c.702G>C	c.(700-702)gaG>gaC	p.E234D		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	234						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTTGGATGAGAGCAACACCT	0.607000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	72					0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186368154	186368154	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:186368154G>A	ENST00000367470.3	+	10	1145	c.909G>A	c.(907-909)ttG>ttA	p.L303L	C1orf27_ENST00000419367.3_Silent_p.L294L|C1orf27_ENST00000432021.3_Silent_p.L303L|C1orf27_ENST00000287859.6_Silent_p.L326L	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	326						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						ATCTGCTTTTGAATGAAATTC	0.313000													3	13					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691191	49691191	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:49691191C>A	ENST00000296452.4	+	5	4316	c.4202C>A	c.(4201-4203)gCc>gAc	p.A1401D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1401					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATGACTCCAGCCTCCCCAGCA	0.592000													10	110					4.68919e-08	5.11164e-08	1	1	0
WDR52	55779	broad.mit.edu	37	3	113118832	113118832	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:113118832T>C	ENST00000393845.2	-	13	1556	c.1490A>G	c.(1489-1491)tAt>tGt	p.Y497C	WDR52_ENST00000295868.2_Missense_Mutation_p.Y497C	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	497										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGCAAAATCATAGATTCGAAC	0.323000													6	83					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107080766	107080766	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:107080766T>G	ENST00000392842.1	+	6	896	c.482T>G	c.(481-483)gTg>gGg	p.V161G	RFX4_ENST00000357881.4_Missense_Mutation_p.V170G|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.V67G	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	161					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AAGAAAGAAGTGAGCAAACAG	0.473000													10	172					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151162887	151162887	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:151162887C>T	ENST00000282466.3	-	4	4881	c.4882G>A	c.(4882-4884)Gaa>Aaa	p.E1628K		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	1628					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)			GTTGTTGCTTCTTGAACTGGT	0.428000													6	68					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66446938	66446938	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:66446938G>A	ENST00000262139.5	-	3	263	c.264C>T	c.(262-264)ttC>ttT	p.F88F	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.F6F	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	88					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGCCTTTCTTGAAGTGATACA	0.498000													9	121					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943649	144943649	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:144943649G>T	ENST00000525985.1	-	2	3844	c.3773C>A	c.(3772-3774)gCc>gAc	p.A1258D				P58107	EPIPL_HUMAN	epiplakin 1	1258						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGGCCTTGGCCCCAGAGGG	0.711000													3	23					0.004672	0.00478267	1	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140865179	140865179	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:140865179C>A	ENST00000306593.1	+	1	439	c.439C>A	c.(439-441)Cct>Act	p.P147T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCAGCTCCTCCAGGACA	0.527000													12	54					0.000978159	0.00101507	1	1	0
COPS3	8533	broad.mit.edu	37	17	17150824	17150824	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:17150824C>G	ENST00000539941.2	-	11	1336	c.1128G>C	c.(1126-1128)gaG>gaC	p.E376D	COPS3_ENST00000439936.2_Missense_Mutation_p.E318D|COPS3_ENST00000268717.5_Missense_Mutation_p.E396D	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	396					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCACTGTGATCTCCTGGTCCA	0.517000													10	105					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043533	35043533	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:35043533G>A	ENST00000312292.5	+	2	954	c.907G>A	c.(907-909)Gag>Aag	p.E303K	C9orf131_ENST00000421362.2_Missense_Mutation_p.E255K|C9orf131_ENST00000354479.5_Missense_Mutation_p.E230K	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	303										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATCTGGCGCTGAGGCACCCAC	0.532000													29	80					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063025	9063025	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:9063025C>G	ENST00000397910.4	-	3	24624	c.24421G>C	c.(24421-24423)Gtc>Ctc	p.V8141L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8143	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGAAAGGACAGTGCTCATC	0.537000													8	71					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198260829	198260829	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:198260829C>A	ENST00000335508.6	-	23	3581	c.3490G>T	c.(3490-3492)Gac>Tac	p.D1164Y		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAAATGTAGTCTTTTCCCATT	0.323000			Mis		myelodysplastic syndrome								4	32					2.56e-06	2.75587e-06	1	1	0
SPNS2	124976	broad.mit.edu	37	17	4434016	4434016	+	Silent	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:4434016C>G	ENST00000329078.3	+	4	873	c.663C>G	c.(661-663)ctC>ctG	p.L221L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	221					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TTGGCGACCTCTTCACCAAGA	0.622000													4	21					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40049372	40049372	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:40049372C>T	ENST00000352035.2	-	15	1645	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	ACLY_ENST00000590151.1_Silent_p.Q505Q|ACLY_ENST00000353196.1_Silent_p.Q495Q|ACLY_ENST00000537919.1_Silent_p.Q234Q|ACLY_ENST00000393896.2_Silent_p.Q495Q	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	505					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CGGCCCGGGTCTGCATGCCCC	0.592000													15	123					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902319	129902319	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:129902319G>A	ENST00000368654.3	-	13	8160	c.7785C>T	c.(7783-7785)gaC>gaT	p.D2595D	MKI67_ENST00000368653.3_Silent_p.D2235D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2595	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCGTGGCAGTGTCTGTTAGTT	0.478000													4	64					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64535215	64535215	+	Silent	SNP	G	G	A	rs142066092	byFrequency	TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:64535215G>A	ENST00000377390.3	-	10	1507	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P	SF1_ENST00000433274.2_Silent_p.P364P|SF1_ENST00000377394.3_Silent_p.P390P|SF1_ENST00000334944.5_Silent_p.P390P|SF1_ENST00000227503.9_Silent_p.P390P|SF1_ENST00000422298.2_Silent_p.P275P|SF1_ENST00000377387.1_Silent_p.P515P	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	390	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGCCACCTCCGGGCCCACCAG	0.637000											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	27					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142202477	142202477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:142202477C>T	ENST00000519811.1	+	21	3497	c.3427C>T	c.(3427-3429)Caa>Taa	p.Q1143*	DENND3_ENST00000523308.1_Nonsense_Mutation_p.Q113*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.Q1063*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.Q1011*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1063										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCCTCCATCAAGAATTGAA	0.522000													5	29					0	0	1	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419176	65419176	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:65419176C>T	ENST00000434382.2	+	2	313	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	VKORC1L1_ENST00000360768.3_Silent_p.I140I			Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	30						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	AGTTCTGCATCATCTGCATCG	0.512000													11	54					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17530938	17530938	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr11:17530938G>C	ENST00000005226.7	-	18	1977	c.1978C>G	c.(1978-1980)Cct>Gct	p.P660A	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCAGGGACAGGGGAGTTAGTG	0.552000													7	50					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924162	105924162	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:105924162C>T	ENST00000393359.2	-	2	1023	c.597G>A	c.(595-597)caG>caA	p.Q199Q	TGFBRAP1_ENST00000258449.1_Silent_p.Q199Q			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	199	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GAAACAGGTCCTGGGAGACGC	0.627000													46	107					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39341560	39341560	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:39341560G>C	ENST00000454994.2	-	2	487	c.211C>G	c.(211-213)Cct>Gct	p.P71A	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Missense_Mutation_p.P71A|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Missense_Mutation_p.P71A			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	71					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGGGAGATAGGAAAGGCCTGG	0.483000													13	159					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046588	17046588	+	RNA	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:17046588A>T	ENST00000492551.1	-	0	64					NR_026567.1																						GAGCCAGTTCACCACCTTGGG	0.602000													7	157					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136366	64136366	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:64136366G>A	ENST00000395254.3	+	2	694	c.414G>A	c.(412-414)tcG>tcA	p.S138S	ZNF365_ENST00000395255.3_Silent_p.S138S|ZNF365_ENST00000410046.3_Silent_p.S138S|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	197										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATGCAGACTCGCTGGATGGGA	0.537000													4	37					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327862	104327862	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:104327862A>G	ENST00000299767.5	+	5	722	c.540A>G	c.(538-540)gaA>gaG	p.E180E		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	180					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AAATGACTGAAGCACAGGAAG	0.433000													3	27					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528059	157528059	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:157528059G>C	ENST00000346085.5	+	20	5785	c.5784G>C	c.(5782-5784)gaG>gaC	p.E1928D	ARID1B_ENST00000367148.1_Missense_Mutation_p.E1968D|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1915D|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1910D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1915					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCGAGACGAGACTCCTCTGT	0.557000													20	48					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218755	8218755	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:8218755C>T	ENST00000361926.3	+	7	1394	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	ARHGEF15_ENST00000421050.1_Silent_p.S428S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	428	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TGGTGACGTCCGAGGCTTCCT	0.622000													17	96					0	0	1	0	0
BTBD1	53339	broad.mit.edu	37	15	83699063	83699063	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:83699063T>A	ENST00000261721.4	-	5	1082	c.880A>T	c.(880-882)Att>Ttt	p.I294F	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.I294F|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	294						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TCTGACAAAATTCCAGATTGA	0.373000													4	58					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213037120	213037120	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:213037120G>A	ENST00000366971.4	+	2	990	c.792G>A	c.(790-792)caG>caA	p.Q264Q		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	264					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CCAACACACAGAATGACACAA	0.368000													3	16					0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19522209	19522209	+	Silent	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:19522209T>C	ENST00000353258.3	-	3	675	c.495A>G	c.(493-495)ctA>ctG	p.L165L		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	165	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GGTTATGGTTTAGGCACTCTG	0.373000													9	58					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965888	88965888	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:88965888G>T	ENST00000333190.4	+	4	4201	c.3592G>T	c.(3592-3594)Gtt>Ttt	p.V1198F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1198						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CGTACAGACAGTTCCAGTTCA	0.517000										HNSCC(36;0.09)			7	66					0.00307968	0.00316334	1	1	0
CHRD	8646	broad.mit.edu	37	3	184106783	184106783	+	Splice_Site	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr3:184106783C>T	ENST00000204604.1	+	22	3058	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	CHRD_ENST00000450923.1_Splice_Site_p.P938S|CHRD_ENST00000348986.3_Splice_Site_p.P898S|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Splice_Site_p.P480S	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	938					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACCGGCGGCGTAAGTGAGG	0.632000													5	33					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156743191	156743191	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:156743191G>A	ENST00000275820.3	+	1	775	c.760G>A	c.(760-762)Gac>Aac	p.D254N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	254	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTAGAGAGTGACTCCCagga	0.567000													6	60					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65467065	65467065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:65467065C>A	ENST00000260641.5	+	2	285	c.128C>A	c.(127-129)tCa>tAa	p.S43*	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000377982.4_Nonsense_Mutation_p.S43*	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	43					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ATTATCAGATCAACCACCAAA	0.338000													10	29					0.000442599	0.000463274	1	1	0
FCN2	2220	broad.mit.edu	37	9	137772755	137772755	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:137772755G>A	ENST00000350339.2	+	1	102	c.88G>A	c.(88-90)Gac>Aac	p.D30N	FCN2_ENST00000291744.6_Missense_Mutation_p.D30N	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	30					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCAGGCGGCAGACACCTGTCC	0.627000													3	16					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63720068	63720068	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:63720068C>T	ENST00000409562.3	-	2	328	c.82G>A	c.(82-84)Gat>Aat	p.D28N	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.D28N			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	28					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CAGAAGGAATCTCTATCCTGT	0.343000													5	52					0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10625683	10625683	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:10625683T>G	ENST00000439028.3	-	2	130	c.5A>C	c.(4-6)gAg>gCg	p.E2A	S1PR5_ENST00000333430.4_Missense_Mutation_p.E2A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	2						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						CAGCCCCGACTCCATGGGCCG	0.692000													6	61					0	0	1	0	0
WBP1	23559	broad.mit.edu	37	2	74687691	74687691	+	Silent	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:74687691G>T	ENST00000393972.3	+	5	998	c.795G>T	c.(793-795)gtG>gtT	p.V265V	WBP1_ENST00000233615.2_Silent_p.V231V|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Silent_p.V228V			Q96G27	WBP1_HUMAN	WW domain binding protein 1	231							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						TCAAGGAGGTGAGGGTTAGTG	0.612000													11	75					0.000978159	0.00101507	1	1	0
ATAD5	79915	broad.mit.edu	37	17	29161731	29161731	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr17:29161731G>C	ENST00000321990.4	+	2	1010	c.632G>C	c.(631-633)aGa>aCa	p.R211T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	211					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAATGCAGAGATGTAGTA	0.343000													10	84					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481969	228481969	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:228481969G>C	ENST00000570156.2	+	47	12609	c.12535G>C	c.(12535-12537)Gag>Cag	p.E4179Q	OBSCN_ENST00000366707.4_Missense_Mutation_p.E869Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3750Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2597Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.E869Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3750Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3222	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAAGGGGCATGAGACCCTCAG	0.632000													10	148					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44152474	44152474	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:44152474C>T	ENST00000223357.3	+	18	2840	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	AEBP1_ENST00000450684.2_Silent_p.I420I	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	845	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCATGGGCATCGTCAACGGGG	0.682000													8	110					0	0	1	0	0
CLEC9A	283420	broad.mit.edu	37	12	10215805	10215805	+	Splice_Site	SNP	G	G	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:10215805G>T	ENST00000355819.1	+	7	1084	c.471G>T	c.(469-471)atG>atT	p.M157I		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	157	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AAGAAGAAATGGTAAACACTG	0.328000													4	39					0.184627	0.186166	1	1	0
GBP3	2635	broad.mit.edu	37	1	89476766	89476766	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:89476766T>G	ENST00000370481.4	-	8	1403	c.1183A>C	c.(1183-1185)Aaa>Caa	p.K395Q		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	395						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TGATTCTGTTTACAAAAGTCA	0.388000													8	86					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15510178	15510178	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:15510178C>T	ENST00000397410.5	-	9	1222	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.K303K	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGCCTGCAACTTGCGCTTGG	0.597000													5	48					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165802238	165802238	+	Splice_Site	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:165802238C>T	ENST00000303735.4	-	3	392		c.e3-1		SLC38A11_ENST00000409058.1_Splice_Site|SLC38A11_ENST00000409662.1_Splice_Site|SLC38A11_ENST00000409149.3_Splice_Site	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11						amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AGGGAAAAGTCTGTGGCAAGA	0.353000													8	48					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75104444	75104444	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:75104444G>A	ENST00000290573.2	+	8	1627	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	HK2_ENST00000409174.1_Missense_Mutation_p.E315K	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	343	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTCAGACATTGAAGGGTGAGC	0.552000													31	105					0	0	1	0	0
RWDD2A	112611	broad.mit.edu	37	6	83905759	83905759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:83905759G>A	ENST00000369724.4	+	3	852	c.647G>A	c.(646-648)tGg>tAg	p.W216*	RWDD2A_ENST00000539997.1_Nonsense_Mutation_p.W162*	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	216										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		TACCCCAATTGGAAGCACATT	0.468000													5	49					0	0	1	0	0
SCD	6319	broad.mit.edu	37	10	102112130	102112130	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:102112130C>T	ENST00000370355.2	+	3	699	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	106					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		CAGGGGTATTCTACTATTTTG	0.532000													7	48					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057744	186057744	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:186057744C>G	ENST00000271588.4	+	63	9813	c.9584C>G	c.(9583-9585)tCt>tGt	p.S3195C	HMCN1_ENST00000367492.2_Missense_Mutation_p.S3195C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3195	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTAGAAAATTCTGACTCACTG	0.333000													4	12					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50257146	50257146	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:50257146T>C	ENST00000357464.3	+	8	947	c.947T>C	c.(946-948)tTt>tCt	p.F316S	PAPD5_ENST00000561678.1_Missense_Mutation_p.F285S|PAPD5_ENST00000436909.3_Missense_Mutation_p.F395S|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	316	PAP-associated.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTAATAGAATTTTTTGAATTA	0.343000													6	24					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88883077	88883077	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:88883077G>A	ENST00000556553.1	+	5	724	c.165G>A	c.(163-165)gaG>gaA	p.E55E	SPATA7_ENST00000045347.7_Silent_p.E87E|SPATA7_ENST00000356583.5_Silent_p.E55E|SPATA7_ENST00000393545.4_Silent_p.E87E			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	87					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AACGAAGAGAGAAACTCAAAA	0.289000													8	22					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594232	30594232	+	Silent	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:30594232G>A	ENST00000395216.2	-	3	1026	c.867C>T	c.(865-867)tgC>tgT	p.C289C	ZNF785_ENST00000470110.1_Silent_p.C274C|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						AACGGAGGCTGCAATCGGGGC	0.642000													8	31					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266071	3266071	+	RNA	SNP	A	A	G	rs2550401	by1000genomes	TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr16:3266071A>G	ENST00000576468.1	+	0	418																											GCCAACTCGAATGCTCTGCTG	0.562000													3	28					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22256321	22256321	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:22256321G>A	ENST00000594947.1	+	3	325	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF257_ENST00000600162.1_Missense_Mutation_p.E61K	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCAAGGAAAAGAGCCCTGTAA	0.438000													17	86					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545564	234545564	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:234545564A>T	ENST00000344644.5	+	1	465	c.396A>T	c.(394-396)aaA>aaT	p.K132N	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.K132N	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATGACCGAAAATTAGTAGAAT	0.358000													5	51					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207530652	207530652	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:207530652A>T	ENST00000452335.2	-	10	1198	c.1082T>A	c.(1081-1083)cTc>cAc	p.L361H		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	361						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTTGGTTTTGAGTTTGTGAAT	0.413000													3	32					0	0	1	0	0
LGALSL	29094	broad.mit.edu	37	2	64681704	64681704	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:64681704G>A	ENST00000238875.5	+	1	479	c.25G>A	c.(25-27)Gat>Aat	p.D9N	LGALSL_ENST00000409537.2_Missense_Mutation_p.D9N	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	9						intracellular	sugar binding										GGCCGACAGCGATGCCGTGGT	0.776000													3	11					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6274866	6274866	+	Silent	SNP	A	A	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:6274866A>G	ENST00000379775.4	+	15	1854	c.1524A>G	c.(1522-1524)aaA>aaG	p.K508K	PFKFB3_ENST00000360521.2_3'UTR|PFKFB3_ENST00000540253.1_Silent_p.K522K|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000379789.4_Silent_p.K488K	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	508	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AGAACATGAAAGGCTCCCGGA	0.522000													6	105					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128315731	128315731	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:128315731C>T	ENST00000480462.1	+	2	289	c.183C>T	c.(181-183)gtC>gtT	p.V61V	FAM71F2_ENST00000477515.1_Silent_p.V61V|FAM71F2_ENST00000378704.3_Silent_p.V52V|FAM71F2_ENST00000460349.1_3'UTR			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	61										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						ATTTCCAGGTCACTAAGCCCG	0.572000													5	45					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75651263	75651263	+	Silent	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:75651263C>T	ENST00000451157.1	-	4	382	c.213G>A	c.(211-213)gtG>gtA	p.V71V	STYXL1_ENST00000360591.3_Silent_p.V71V|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000359697.3_Silent_p.V71V|STYXL1_ENST00000248600.1_Silent_p.V71V|STYXL1_ENST00000431581.1_Silent_p.V71V			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	71	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CGCAGTACTTCACACACTCCA	0.443000													11	104					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779024	18779024	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr19:18779024G>A	ENST00000300976.4	+	3	907	c.817G>A	c.(817-819)Gag>Aag	p.E273K	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	273										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATCATGGTGGAGGACGTGCT	0.672000													7	103					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56082826	56082826	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:56082826C>T	ENST00000395471.3	-	7	1265	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	PSPH_ENST00000275605.3_Missense_Mutation_p.E154K|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	154					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCACCAGATTCAGCTGTTGGC	0.363000													3	33					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64958443	64958443	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr10:64958443G>C	ENST00000399262.2	-	12	5539	c.5321C>G	c.(5320-5322)tCt>tGt	p.S1774C	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1592C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1555C|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1774					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTCAGGAGAAGAGAAACCATC	0.308000													4	30					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144812632	144812632	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:144812632C>T	ENST00000388913.3	-	2	246	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	41					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGTAGGCCTCCGAGCCACCC	0.647000													4	37					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892654	72892654	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:72892654G>C	ENST00000339594.4	-	7	1475	c.1137C>G	c.(1135-1137)caC>caG	p.H379Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H379Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	379	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAAAGTTAGTGTGCAGCTTAT	0.453000													4	24					0	0	1	0	0
DCTN6	10671	broad.mit.edu	37	8	30038095	30038095	+	Silent	SNP	G	G	A	rs143943390	byFrequency	TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr8:30038095G>A	ENST00000221114.3	+	6	510	c.423G>A	c.(421-423)acG>acA	p.T141T	DCTN6_ENST00000520829.1_Silent_p.T141T|RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	141						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		CTGAGAATACGGTGATCTATG	0.438000													3	24					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79711676	79711676	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr6:79711676G>A	ENST00000275034.4	-	17	1986	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	607					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACGGCCAGGAACTAATCTT	0.428000													4	19					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725042	7725042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:7725042delC	ENST00000303635.7	+	9	2642	c.2435delC	c.(2434-2436)gccfs	p.A812fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.A812fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	812					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGGCGCGGGCCCCCTTCACC	0.687			T	WWTR1	epitheliod hemangioendothelioma								14	158	---	---	---	---					
PEA15	8682	broad.mit.edu	37	1	160183228	160183229	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:160183228_160183229delCT	ENST00000368076.1	+	6	756_757	c.408_409delCT	c.(406-411)ccctctfs	p.S137fs	PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368077.1_Frame_Shift_Del_p.S94fs|PEA15_ENST00000360472.4_Frame_Shift_Del_p.S116fs			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	116					anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCGGCAGCCCTCTGAGGAAGA	0.579													12	87	---	---	---	---					
POU2F1	5451	broad.mit.edu	37	1	167384859	167384860	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:167384859_167384860delCT	ENST00000367862.5	+	16	2315_2316	c.2080_2081delCT	c.(2080-2082)ctcfs	p.L694fs	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Frame_Shift_Del_p.L642fs|POU2F1_ENST00000367866.2_Frame_Shift_Del_p.L705fs|POU2F1_ENST00000541643.3_Frame_Shift_Del_p.L682fs	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	682					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCCTCAGAACCTCTCTCTGCTC	0.569													7	216	---	---	---	---					
PRG4	10216	broad.mit.edu	37	1	186277877	186277878	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr1:186277877_186277878delAC	ENST00000445192.2	+	7	3071_3072	c.3026_3027delAC	c.(3025-3027)gacfs	p.D1009fs	PRG4_ENST00000367486.3_Frame_Shift_Del_p.D966fs|PRG4_ENST00000367485.4_Frame_Shift_Del_p.D916fs|PRG4_ENST00000367483.4_Frame_Shift_Del_p.D968fs|PRG4_ENST00000367484.3_Frame_Shift_Del_p.D538fs	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1009					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAACCAAAAGACAGAGCTACTA	0.376													8	109	---	---	---	---					
KIAA1841	84542	broad.mit.edu	37	2	61336427	61336428	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr2:61336427_61336428delAC	ENST00000402291.1	+	16	1981_1982	c.1740_1741delAC	c.(1738-1743)aaacaafs	p.Q581fs	KIAA1841_ENST00000295031.5_Frame_Shift_Del_p.Q581fs|KIAA1841_ENST00000356719.2_Frame_Shift_Del_p.Q581fs|KIAA1841_ENST00000453873.1_Frame_Shift_Del_p.Q581fs	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	581										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TATCCAAGAAACAAAGTATTGG	0.356													12	91	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141059737	141059738	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:141059737_141059738delCT	ENST00000239440.4	-	2	381_382	c.316_317delAG	c.(316-318)agtfs	p.S106fs	ARAP3_ENST00000508305.1_Frame_Shift_Del_p.S28fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	106	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCAGGGCCACTGAGTCCACCA	0.673													14	83	---	---	---	---					
PCYOX1L	78991	broad.mit.edu	37	5	148747815	148747816	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr5:148747815_148747816delCA	ENST00000514349.1	+	5	1392_1393	c.813_814delCA	c.(811-816)accacafs	p.TT271fs	PCYOX1L_ENST00000274569.4_Frame_Shift_Del_p.TT361fs			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	361					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCCTTACCACAGATTTCCC	0.564											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	132	---	---	---	---					
MICALL2	79778	broad.mit.edu	37	7	1487216	1487217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr7:1487216_1487217insG	ENST00000297508.7	-	4	694_695	c.519_520insC	c.(517-522)cccaagfs	p.K174fs	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	174						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTTACAGTCTTGGGGGGCGGGC	0.673													2	4	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43853584	43853584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr9:43853584delT	ENST00000377564.3	+	12	2237	c.1844delT	c.(1843-1845)ctgfs	p.L615fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	615	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGTGGCCCCCTGGGACCATTT	0.463													5	5	---	---	---	---					
ITGA7	3679	broad.mit.edu	37	12	56087038	56087038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:56087038delG	ENST00000257880.7	-	21	2950	c.2731delC	c.(2731-2733)catfs	p.H911fs	ITGA7_ENST00000553804.1_Frame_Shift_Del_p.H871fs|ITGA7_ENST00000257879.6_Frame_Shift_Del_p.H867fs|ITGA7_ENST00000394230.2_Frame_Shift_Del_p.H871fs|ITGA7_ENST00000347027.6_Frame_Shift_Del_p.H861fs|ITGA7_ENST00000555728.1_Frame_Shift_Del_p.H911fs|ITGA7_ENST00000394229.2_Frame_Shift_Del_p.H867fs|ITGA7_ENST00000452168.2_Frame_Shift_Del_p.H774fs			Q13683	ITA7_HUMAN	integrin, alpha 7	911					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAATCTCATGAGGCCACATG	0.577													9	80	---	---	---	---					
GNPTAB	79158	broad.mit.edu	37	12	102158001	102158002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:102158001_102158002insT	ENST00000299314.7	-	13	2955_2956	c.2693_2694insA	c.(2692-2694)aagfs	p.K898fs		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	898					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGAAATACTTTTTTTTCTC	0.371													10	88	---	---	---	---					
PLA2G1B	5319	broad.mit.edu	37	12	120760103	120760104	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr12:120760103_120760104delCA	ENST00000308366.4	-	4	374_375	c.339_340delTG	c.(337-342)tgtgagfs	p.CE113fs	PLA2G1B_ENST00000549767.1_Frame_Shift_Del_p.CE84fs|PLA2G1B_ENST00000423423.3_Stop_Codon_Del	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	113					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGAAGGCCTCACACTCTTTGT	0.465													17	115	---	---	---	---					
RPGRIP1	57096	broad.mit.edu	37	14	21816346	21816346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr14:21816346delG	ENST00000206660.6	+	23	3633	c.3633delG	c.(3631-3633)gtgfs	p.V1212fs	RPGRIP1_ENST00000307974.4_Frame_Shift_Del_p.V571fs|RPGRIP1_ENST00000382933.4_Frame_Shift_Del_p.V538fs|RPGRIP1_ENST00000556336.1_Frame_Shift_Del_p.V869fs|RPGRIP1_ENST00000557771.1_Frame_Shift_Del_p.V1174fs|RPGRIP1_ENST00000400017.2_Frame_Shift_Del_p.V1212fs			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1212	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGTTTACAGTGGTAAGTGATC	0.323													2	4	---	---	---	---					
ZNF710	374655	broad.mit.edu	37	15	90623014	90623015	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr15:90623014_90623015delCT	ENST00000268154.4	+	5	2199_2200	c.1948_1949delCT	c.(1948-1950)ctcfs	p.L650fs	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCCAGTGTCCTCACTGAACAG	0.624													11	53	---	---	---	---					
GZF1	64412	broad.mit.edu	37	20	23350298	23350299	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:23350298_23350299delCA	ENST00000338121.5	+	5	1782_1783	c.1705_1706delCA	c.(1705-1707)cacfs	p.H569fs	GZF1_ENST00000544236.1_Frame_Shift_Del_p.H93fs|GZF1_ENST00000542987.1_Frame_Shift_Del_p.H78fs|GZF1_ENST00000377051.2_Frame_Shift_Del_p.H569fs			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	569					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CCGCCGCATCCACACAGGGGAG	0.614													26	133	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39981277	39981277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A541-01A-11D-A26M-08	TCGA-E7-A541-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ba25e8c-54cd-4a9c-8a36-79fac5a1cd79	d2578df2-2732-4ac9-8555-47c771a5f9c6	g.chr20:39981277delG	ENST00000373257.3	+	10	1486	c.1395delG	c.(1393-1395)cagfs	p.Q465fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	465					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCTCTTACCAGGACCTCACCA	0.577													14	278	---	---	---	---