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
KDR	3791	broad.mit.edu	37	4	55972894	55972894	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:55972894A>T	ENST00000263923.4	-	11	1791	c.1496T>A	c.(1495-1497)gTt>gAt	p.V499D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	499	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATTTTTATTAACTTCAATTTT	0.338000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			32	38					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988685	33988685	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:33988685G>T	ENST00000389232.4	+	39	6197	c.6127G>T	c.(6127-6129)Ggg>Tgg	p.G2043W	RYR3_ENST00000415757.3_Missense_Mutation_p.G2043W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2043	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)		CATGATCAATGGGCTGGGGTA	0.498000													13	12					5.50884e-06	6.24581e-06	1	1	0
NAT2	10	broad.mit.edu	37	8	18257507	18257507	+	Splice_Site	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:18257507G>T	ENST00000286479.3	+	2	101		c.e2-1		NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)						xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTCTTGCTTAGGGGATCATGG	0.313000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				41	53					4.32679e-17	6.43326e-17	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159657323	159657323	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:159657323C>G	ENST00000297267.9	+	12	4244	c.4044C>G	c.(4042-4044)atC>atG	p.I1348M	FNDC1_ENST00000340366.6_Missense_Mutation_p.I1285M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1348						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAGAATTATCAATGGCCCTC	0.393000													3	15					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710654	103710654	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:103710654C>A	ENST00000245312.3	-	2	1052	c.456G>T	c.(454-456)tgG>tgT	p.W152C		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	152					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGAGTCGACCCACATTTTGG	0.493000													25	21					4.4004e-07	5.16172e-07	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238289823	238289823	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:238289823C>A	ENST00000295550.4	-	5	2084	c.1632G>T	c.(1630-1632)cgG>cgT	p.R544R	COL6A3_ENST00000347401.3_Silent_p.R343R|COL6A3_ENST00000392004.3_Silent_p.R338R|COL6A3_ENST00000346358.4_Silent_p.R544R|COL6A3_ENST00000409809.1_Silent_p.R338R|COL6A3_ENST00000472056.1_Silent_p.R137R|COL6A3_ENST00000392003.2_Silent_p.R137R|COL6A3_ENST00000353578.4_Silent_p.R338R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	544	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTCGGCAGCCCGGTAGCCGG	0.552000													57	27					2.31418e-15	3.29625e-15	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141806558	141806558	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:141806558C>T	ENST00000389484.3	-	11	2757	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	596					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTTACCATCTTTCAGGATG	0.423000										TSP Lung(27;0.18)			19	90					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437434	5437434	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:5437434C>A	ENST00000380419.3	-	3	289	c.252G>T	c.(250-252)ggG>ggT	p.G84G	TUBAL3_ENST00000479328.1_Silent_p.G44G	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	84					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCGTCCGGATCCCATCTGCAG	0.597000													47	55					4.00472e-15	5.62153e-15	1	1	0
MYH4	4622	broad.mit.edu	37	17	10355750	10355750	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:10355750T>A	ENST00000255381.2	-	26	3441	c.3331A>T	c.(3331-3333)Aag>Tag	p.K1111*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1111					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTTTGATCTTCTTTTGTAGC	0.358000													20	29					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761318	150761318	+	Silent	SNP	G	G	T	rs142515597	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:150761318G>T	ENST00000485713.1	+	3	1121	c.81G>T	c.(79-81)acG>acT	p.T27T	SLC4A2_ENST00000413384.2_Silent_p.T27T|SLC4A2_ENST00000392826.2_Silent_p.T18T|SLC4A2_ENST00000461735.1_Silent_p.T13T|SLC4A2_ENST00000310317.5_Intron	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	27	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCTGGGACGCCTGGGTTCC	0.622000													4	37					2.56e-06	2.93685e-06	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67321063	67321063	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:67321063A>T	ENST00000360461.5	+	17	5621	c.3086A>T	c.(3085-3087)cAg>cTg	p.Q1029L	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.Q1029L|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.Q948L|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.Q1029L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1029					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CTTTGGAGGCAGGCCGTCCAC	0.622000													33	46					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021899	120021899	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:120021899C>A	ENST00000379551.2	+	3	698	c.341C>A	c.(340-342)cCc>cAc	p.P114H	PRR16_ENST00000446965.1_Missense_Mutation_p.P67H|PRR16_ENST00000505123.1_Missense_Mutation_p.P67H|PRR16_ENST00000407149.2_Missense_Mutation_p.P137H	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	137	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TGTGAAGACCCCAAAAGGGTG	0.502000													43	29					1.76056e-25	3.01429e-25	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70080209	70080209	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:70080209G>T	ENST00000446444.1	-	1	240	c.232C>A	c.(232-234)Cct>Act	p.P78T	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	78					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAAGATGTAGGATAAACTTCA	0.358000													72	35					1.4051e-37	2.57476e-37	1	1	0
SMC4	10051	broad.mit.edu	37	3	160130174	160130174	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:160130174G>A	ENST00000357388.3	+	7	1364	c.913G>A	c.(913-915)Gct>Act	p.A305T	SMC4_ENST00000344722.5_Missense_Mutation_p.A305T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000470240.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.A305T|SMC4_ENST00000469762.1_Missense_Mutation_p.A280T|SMC4_ENST00000462787.1_Missense_Mutation_p.A305T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	305					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAAAACATAGCTATCGAATT	0.289000													22	30					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58130938	58130938	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:58130938G>A	ENST00000547588.1	-	1	1091	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	364	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTCCGGGAAGGGGCCCGGAGC	0.662000													8	2					0	0	1	0	0
LCE2B	26239	broad.mit.edu	37	1	152659518	152659518	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:152659518G>T	ENST00000368780.3	+	2	253	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	LCE2B_ENST00000417924.2_Missense_Mutation_p.G67W	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	67	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAACTCTGGGGCTGGTGG	0.672000													75	187					5.88917e-42	1.09694e-41	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935314	30935314	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:30935314A>T	ENST00000355537.3	+	2	992	c.845A>T	c.(844-846)aAg>aTg	p.K282M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCAAGGGCAAGTTCAAGAAG	0.677000													23	23					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200945991	200945991	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:200945991G>T	ENST00000332129.2	-	31	4633	c.4317C>A	c.(4315-4317)caC>caA	p.H1439Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.H1439Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.H1452Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.H1452Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1452					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGGGCCGATGTGGCCAGTCA	0.617000													23	21					9.57634e-11	1.23436e-10	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10114729	10114729	+	Silent	SNP	C	C	T	rs140294240	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:10114729C>T	ENST00000264828.3	-	5	772	c.687G>A	c.(685-687)ccG>ccA	p.P229P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	229	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTGTGGCTGCCGGTGCCAGGT	0.577000													26	25					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43779471	43779471	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:43779471C>A	ENST00000372476.3	+	14	2320	c.2241C>A	c.(2239-2241)gtC>gtA	p.V747V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.V392V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	747					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCCCAGTCCAAGAGAGCC	0.647000													9	17					1.12685e-05	1.26701e-05	1	1	0
OR11A1	26531	broad.mit.edu	37	6	29395062	29395062	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:29395062C>A	ENST00000377149.1	-	5	829	c.357G>T	c.(355-357)atG>atT	p.M119I	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.M119I|OR11A1_ENST00000377147.2_Missense_Mutation_p.M119I			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GGTCATATGCCATGACAGCCA	0.547000													16	61					6.31663e-08	7.64763e-08	1	1	0
MEGF6	1953	broad.mit.edu	37	1	3410419	3410419	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:3410419C>G	ENST00000356575.4	-	34	4529	c.4303G>C	c.(4303-4305)Gac>Cac	p.D1435H	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1435						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCGTCACAGTCACAGCGCTGG	0.667000													3	8					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146804	52146804	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:52146804C>G	ENST00000360844.6	-	6	1175	c.1134G>C	c.(1132-1134)tgG>tgC	p.W378C	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	378					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TATAGTAGATCCAGGTGAGGC	0.627000													7	29					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359938	49359938	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:49359938C>A	ENST00000301061.4	-	5	1458	c.1110G>T	c.(1108-1110)tgG>tgT	p.W370C	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	370					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CATAGCAGCACCAGTGGAAGC	0.597000													24	11					3.28513e-13	4.40181e-13	1	1	0
STRIP1	85369	broad.mit.edu	37	1	110589344	110589344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:110589344G>T	ENST00000369795.3	+	13	1481	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	STRIP1_ENST00000369796.1_Nonsense_Mutation_p.E392*	NM_033088.2	NP_149079.2			striatin interacting protein 1																		ACAGATGGAGGAGGAATACCT	0.587000													36	121					2.09667e-21	3.36061e-21	1	1	0
FBN2	2201	broad.mit.edu	37	5	127627286	127627286	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:127627286G>T	ENST00000508053.1	-	55	7201	c.6227C>A	c.(6226-6228)cCa>cAa	p.P2076Q	FBN2_ENST00000262464.4_Missense_Mutation_p.P2076Q			P35556	FBN2_HUMAN	fibrillin 2	2076	EGF-like 35; 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)		GAAGCCCCCTGGAGTATTAGT	0.438000													79	41					6.43283e-47	1.2217e-46	1	1	0
MAP3K11	4296	broad.mit.edu	37	11	65365945	65365945	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:65365945C>A	ENST00000309100.3	-	10	2846	c.2361G>T	c.(2359-2361)cgG>cgT	p.R787R	MAP3K11_ENST00000530153.1_Silent_p.R530R|MAP3K11_ENST00000532507.1_Silent_p.R203R	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	787	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGGAGAAGGCCGTGGCCCAG	0.677000													20	28					2.37509e-13	3.20142e-13	1	1	0
PDILT	204474	broad.mit.edu	37	16	20384416	20384416	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:20384416A>G	ENST00000302451.4	-	6	958	c.710T>C	c.(709-711)aTt>aCt	p.I237T		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	237					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTGTCATTAATAAGCTTTTG	0.363000													66	95					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95311020	95311020	+	Splice_Site	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:95311020G>T	ENST00000271227.6	+	9	1174	c.1072_splice	c.e9+1	p.G358_splice	SLC44A3_ENST00000467909.1_Splice_Site_p.G310_splice|SLC44A3_ENST00000532427.1_Splice_Site_p.G278_splice|SLC44A3_ENST00000527077.1_Splice_Site_p.G290_splice|SLC44A3_ENST00000446120.2_Splice_Site_p.G322_splice|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000529450.1_Splice_Site_p.G326_splice|SLC44A3_ENST00000530397.1_3'UTR	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	358						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GGGAACTGCAGGTAAGGGACA	0.542000													23	48					3.62473e-10	4.59359e-10	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37866373	37866373	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:37866373C>T	ENST00000406381.2	+	8	1098	c.588C>T	c.(586-588)cgC>cgT	p.R196R	ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000269571.5_Silent_p.R226R|ERBB2_ENST00000541774.1_Silent_p.R211R|ERBB2_ENST00000540147.1_Silent_p.R196R|ERBB2_ENST00000578199.1_Silent_p.R196R|ERBB2_ENST00000584601.1_Silent_p.R196R|ERBB2_ENST00000540042.1_Silent_p.R196R|ERBB2_ENST00000584450.1_Silent_p.R226R	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	226					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTGTGCCCGCTGCAAGGGGC	0.647000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			54	25					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63574715	63574715	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:63574715C>A	ENST00000374852.3	-	4	477	c.410G>T	c.(409-411)gGg>gTg	p.G137V	MTMR8_ENST00000453546.1_Missense_Mutation_p.G137V	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	137	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCCCATACGCCCAAAGTCTGA	0.383000													18	23					1.33834e-09	1.68347e-09	1	1	0
OR8B4	283162	broad.mit.edu	37	11	124294457	124294457	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:124294457C>A	ENST00000356130.3	-	1	332	c.311G>T	c.(310-312)tGt>tTt	p.C104F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GACAAAGAAACAGAAGAAAAA	0.428000													31	73					2.81731e-10	3.59049e-10	1	1	0
CXCL12	6387	broad.mit.edu	37	10	44874090	44874090	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:44874090T>A	ENST00000374429.2	-	3	347	c.261A>T	c.(259-261)ttA>ttT	p.L87F	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000343575.6_Missense_Mutation_p.L87F|CXCL12_ENST00000395794.2_Missense_Mutation_p.L87F|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395795.4_Missense_Mutation_p.L87F|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.L87F	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	87					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTACTTGTTTAAAGCTTTCT	0.478000													56	46					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74059507	74059507	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:74059507T>A	ENST00000296805.3	-	2	518	c.61A>T	c.(61-63)Aat>Tat	p.N21Y	GFM2_ENST00000509430.1_Missense_Mutation_p.N21Y|GFM2_ENST00000345239.2_Missense_Mutation_p.N21Y|GFM2_ENST00000427854.2_Missense_Mutation_p.N21Y	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	21					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ATGCTTACATTAATATACACA	0.338000													17	37					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942513	24942513	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:24942513T>C	ENST00000289968.6	-	19	2176	c.2107A>G	c.(2107-2109)Agc>Ggc	p.S703G	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S625G	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	703	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GACAAGCTGCTGGAGTACCTC	0.687000													64	96					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002777	52002777	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:52002777C>A	ENST00000291707.3	-	3	1057	c.1002G>T	c.(1000-1002)caG>caT	p.Q334H	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Q216H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	334	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCATGGTCCTGGGGCTGTG	0.647000													24	31					1.10513e-12	1.46918e-12	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119029568	119029568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:119029568G>T	ENST00000307417.3	+	12	1730	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	ABCG4_ENST00000531739.1_Nonsense_Mutation_p.E456*|ABCG4_ENST00000449422.2_Nonsense_Mutation_p.E456*	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	456	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTTCATGAGGGAGCACCTCAA	0.622000													62	163					3.77215e-22	6.14789e-22	1	1	0
IL21R	50615	broad.mit.edu	37	16	27448847	27448847	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:27448847C>T	ENST00000337929.3	+	4	664	c.191C>T	c.(190-192)tCc>tTc	p.S64F	IL21R_ENST00000395755.1_Missense_Mutation_p.S64F|IL21R_ENST00000564089.1_Missense_Mutation_p.S64F|IL21R_ENST00000395754.4_Missense_Mutation_p.S64F	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	64					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAGGCCACCTCCTGCAGCCTC	0.587000			T	BCL6	NHL								20	58					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52921779	52921779	+	Silent	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:52921779C>G	ENST00000354452.3	-	15	1910	c.1299G>C	c.(1297-1299)ctG>ctC	p.L433L	TCF4_ENST00000356073.4_Silent_p.L433L|TCF4_ENST00000565018.2_Silent_p.L433L|TCF4_ENST00000564999.1_Silent_p.L433L|TCF4_ENST00000564228.1_Silent_p.L362L|TCF4_ENST00000537578.1_Silent_p.L409L|TCF4_ENST00000566279.1_Silent_p.L373L|TCF4_ENST00000543082.1_Silent_p.L391L|TCF4_ENST00000568740.1_Silent_p.L408L|TCF4_ENST00000561831.3_Silent_p.L273L|TCF4_ENST00000570177.2_Silent_p.L303L|TCF4_ENST00000544241.2_Silent_p.L362L|TCF4_ENST00000566286.1_Silent_p.L430L|TCF4_ENST00000540999.1_Silent_p.L409L|TCF4_ENST00000398339.1_Silent_p.L535L|TCF4_ENST00000570287.2_Silent_p.L273L|TCF4_ENST00000568673.1_Silent_p.L409L|TCF4_ENST00000457482.3_Silent_p.L273L|TCF4_ENST00000564403.2_Silent_p.L439L|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561992.1_Silent_p.L303L|TCF4_ENST00000567880.1_Silent_p.L373L|TCF4_ENST00000537856.3_Silent_p.L303L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	433					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA 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 RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACCCTGAGCCCAGACCACCCA	0.473000													14	11					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256842	240256842	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:240256842G>A	ENST00000319653.9	+	1	1663	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	478					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTGCGGCCGGCCTGAGCCGC	0.761000													8	20					0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17836585	17836585	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:17836585C>A	ENST00000406397.1	+	4	1025	c.500C>A	c.(499-501)aCa>aAa	p.T167K	VSNL1_ENST00000295156.4_Missense_Mutation_p.T167K|VSNL1_ENST00000404666.2_Missense_Mutation_p.T167K			P62760	VISL1_HUMAN	visinin-like 1	167	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GACCAGATTACACTGGATGAA	0.438000													50	38					1.51926e-22	2.49408e-22	1	1	0
OR10A4	283297	broad.mit.edu	37	11	6898668	6898668	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:6898668C>A	ENST00000379829.2	+	1	813	c.790C>A	c.(790-792)Caa>Aaa	p.Q264K		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTCCGACCCCAATCCAGTGC	0.512000													67	36					2.19297e-23	3.67119e-23	1	1	0
TBC1D5	9779	broad.mit.edu	37	3	17255708	17255708	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:17255708T>C	ENST00000253692.7	-	18	3407	c.1743A>G	c.(1741-1743)agA>agG	p.R581R	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Silent_p.R581R|TBC1D5_ENST00000429924.2_Silent_p.R555R|TBC1D5_ENST00000446818.2_Silent_p.R603R	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	581						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CAGATTCTTTTCTGCCCATAG	0.383000													27	22					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433394	55433394	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:55433394C>A	ENST00000314259.3	+	1	781	c.752C>A	c.(751-753)cCc>cAc	p.P251H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTCTTTGTCCCCTGTATTTTC	0.498000													65	94					1.08241e-25	1.86736e-25	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196876582	196876582	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:196876582T>C	ENST00000367416.2	+	5	887	c.750T>C	c.(748-750)taT>taC	p.Y250Y	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTTCTAAATATGTAACATGTA	0.403000													42	79					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40036998	40036998	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:40036998G>T	ENST00000336649.4	+	8	867	c.867G>T	c.(865-867)caG>caT	p.Q289H	CACNA1I_ENST00000407673.1_Missense_Mutation_p.Q289H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Q289H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.Q289H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.Q289H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Q289H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	289					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAAGGAGCAGGGCCGTGAGT	0.612000													12	23					2.27111e-07	2.70143e-07	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142571863	142571863	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:142571863C>A	ENST00000359396.3	-	12	1730	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	495					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGCCATCAGCCAGCAGAATC	0.547000													5	9					4.096e-09	5.06768e-09	1	1	0
ZNF239	8187	broad.mit.edu	37	10	44053474	44053474	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:44053474T>A	ENST00000306006.6	-	2	706	c.54A>T	c.(52-54)gaA>gaT	p.E18D	ZNF239_ENST00000426961.1_Missense_Mutation_p.E18D|ZNF239_ENST00000535642.1_Missense_Mutation_p.E18D|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.E18D	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCCCATCCACTTCCCCTCGAT	0.458000													48	34					0	0	1	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060900	90060900	+	RNA	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:90060900G>T	ENST00000436451.2	+	0	314																											GAGGTTCAGTGGCAGTGGATC	0.498000													14	116					1.49906e-05	1.66344e-05	1	1	0
ROS1	6098	broad.mit.edu	37	6	117704539	117704539	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:117704539T>C	ENST00000368508.3	-	16	2635	c.2437A>G	c.(2437-2439)Aga>Gga	p.R813G	ROS1_ENST00000368507.3_Missense_Mutation_p.R808G|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	813					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCATTTAGTCTGGTGCTTTCC	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	120					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620560	14620560	+	Silent	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:14620560G>C	ENST00000403951.2	-	19	1958	c.1539C>G	c.(1537-1539)ggC>ggG	p.G513G	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Silent_p.G512G|DGKB_ENST00000407950.1_Silent_p.G505G|DGKB_ENST00000399322.3_Silent_p.G513G|DGKB_ENST00000258767.5_Silent_p.G513G|DGKB_ENST00000406247.3_Silent_p.G513G|DGKB_ENST00000444700.2_Silent_p.G494G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	513	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GAGGATGCTTGCCTACATTGG	0.403000													19	34					0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96086095	96086095	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:96086095G>T	ENST00000376873.3	+	1	238	c.8G>T	c.(7-9)aGg>aTg	p.R3M		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	0					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GACATGTCCAGGGCGCAGATC	0.587000													19	15					1.40151e-16	2.0657e-16	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50459428	50459428	+	Splice_Site	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:50459428C>A	ENST00000331340.3	+	7	872	c.715_splice	c.e7-1	p.V239_splice	IKZF1_ENST00000439701.1_Splice_Site_p.V197_splice|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Splice_Site_p.V197_splice|IKZF1_ENST00000438033.1_Splice_Site_p.V152_splice|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Splice_Site_p.V197_splice|IKZF1_ENST00000343574.5_Splice_Site_p.V152_splice	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	239					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGACTTTAGTCATTAAAGAAG	0.418000			"""D,T"""	BCL6	"""ALL, DLBCL"""								24	45					7.87624e-14	1.08099e-13	1	1	0
CALCA	796	broad.mit.edu	37	11	14992673	14992673	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:14992673G>T	ENST00000361010.3	-	2	140	c.66C>A	c.(64-66)agC>agA	p.S22R	CALCA_ENST00000486207.1_Missense_Mutation_p.S22R|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.S22R|CALCA_ENST00000396372.2_Missense_Mutation_p.S22R|CALCA_ENST00000331587.4_Missense_Mutation_p.S22R	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	22					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CTGCATGGAGGCTGCCTGCCT	0.498000													19	43					8.04996e-18	1.21017e-17	1	1	0
PLEC	5339	broad.mit.edu	37	8	144991347	144991347	+	Silent	SNP	G	G	A	rs111227648		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:144991347G>A	ENST00000322810.4	-	32	13222	c.13053C>T	c.(13051-13053)atC>atT	p.I4351I	PLEC_ENST00000356346.3_Silent_p.I4200I|PLEC_ENST00000354589.3_Silent_p.I4214I|PLEC_ENST00000357649.2_Silent_p.I4218I|PLEC_ENST00000354958.2_Silent_p.I4192I|PLEC_ENST00000398774.2_Silent_p.I4182I|PLEC_ENST00000345136.3_Silent_p.I4214I|PLEC_ENST00000527096.1_Silent_p.I4237I|PLEC_ENST00000436759.2_Silent_p.I4241I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4351	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGAGCGGTCGATGAGGTTCT	0.642000													4	58					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63282684	63282684	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:63282684G>A	ENST00000282549.2	+	5	574	c.298G>A	c.(298-300)Ggg>Agg	p.G100R	OTX1_ENST00000366671.3_Missense_Mutation_p.G100R	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	100						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCAGCAGAGCGGGAGCGGAAC	0.647000													17	9					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083833	176083833	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:176083833C>T	ENST00000298564.10	+	4	588	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000515708.1_Intron|TSPAN17_ENST00000508164.1_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGTGGCCCCACGTGCCCCT	0.627000													25	14					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67696007	67696007	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:67696007C>G	ENST00000255674.6	-	43	6062	c.5776G>C	c.(5776-5778)Gcc>Ccc	p.A1926P	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1926							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGCTGCATGGCAATGCTTAAC	0.318000													15	6					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138670575	138670575	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:138670575A>T	ENST00000298480.5	+	23	2710	c.2636A>T	c.(2635-2637)aAc>aTc	p.N879I	KCNT1_ENST00000490355.2_Missense_Mutation_p.N858I|KCNT1_ENST00000371757.2_Missense_Mutation_p.N879I|KCNT1_ENST00000491806.2_Missense_Mutation_p.N846I|KCNT1_ENST00000263604.3_Missense_Mutation_p.N860I|KCNT1_ENST00000486577.2_Missense_Mutation_p.N838I|KCNT1_ENST00000488444.2_Missense_Mutation_p.N860I|KCNT1_ENST00000487664.1_Missense_Mutation_p.N834I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	879						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TATGCGGACAACCTGGTGGTG	0.647000													3	30					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127967524	127967524	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:127967524G>T	ENST00000368679.4	-	3	529	c.220C>A	c.(220-222)Cgg>Agg	p.R74R	ADAM12_ENST00000368676.4_Silent_p.R74R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	74					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGCTTTCCCGTTGTAGTCGA	0.343000													4	15					1.23904e-05	1.38625e-05	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137522	40137522	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:40137522C>A	ENST00000278198.2	-	2	2284	c.321G>T	c.(319-321)ttG>ttT	p.L107F	LRRC4C_ENST00000530763.1_Missense_Mutation_p.L107F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L107F|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L107F			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	107					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTTCCTACTCAACTGTAGGA	0.458000													42	26					1.96642e-18	3.00277e-18	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93741962	93741962	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:93741962G>T	ENST00000265990.6	+	17	2336	c.2028G>T	c.(2026-2028)cgG>cgT	p.R676R	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	676					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAGTTATGCGGGCCAGAATGA	0.448000													13	49					4.36969e-10	5.51704e-10	1	1	0
MADD	8567	broad.mit.edu	37	11	47312317	47312317	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:47312317A>T	ENST00000342922.4	+	19	3608	c.3251A>T	c.(3250-3252)aAg>aTg	p.K1084M	MADD_ENST00000311027.5_Missense_Mutation_p.K1104M|MADD_ENST00000407859.3_Missense_Mutation_p.K1061M|MADD_ENST00000349238.3_Missense_Mutation_p.K1104M|MADD_ENST00000406482.1_Missense_Mutation_p.K1041M|MADD_ENST00000395344.3_Missense_Mutation_p.K1041M|MADD_ENST00000395336.3_Missense_Mutation_p.K1104M|MADD_ENST00000402192.2_Missense_Mutation_p.K1084M|MADD_ENST00000402799.1_Missense_Mutation_p.K1041M	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1104					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AAGGGTCCTAAGGAACTGGAC	0.507000													25	37					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49993925	49993925	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:49993925A>T	ENST00000544141.1	-	4	1827	c.1228T>A	c.(1228-1230)Tgg>Agg	p.W410R	FAM186B_ENST00000257894.2_Missense_Mutation_p.W500R|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	500						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGCTGCTGCCACATCTCCTCC	0.642000													43	21					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188243760	188243760	+	Splice_Site	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:188243760T>A	ENST00000409998.1	-	9	1190		c.e9-2		AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Splice_Site|CALCRL_ENST00000410068.1_Splice_Site|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like							integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TAGTGCAGTCTGTAATTTGTA	0.303000													13	96					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32196626	32196626	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:32196626A>T	ENST00000373658.3	-	29	4496	c.4155T>A	c.(4153-4155)gcT>gcA	p.A1385A	BAI2_ENST00000440175.2_Silent_p.A994A|BAI2_ENST00000398538.1_Silent_p.A1373A|BAI2_ENST00000398542.1_Silent_p.A1285A|BAI2_ENST00000527361.1_Silent_p.A1352A|BAI2_ENST00000398547.1_Silent_p.A1318A|BAI2_ENST00000373655.2_Silent_p.A1385A|BAI2_ENST00000257070.4_Silent_p.A1352A|BAI2_ENST00000398556.3_Silent_p.A1300A|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1385					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)		CTGTCTTGGCAGCTCGCCGGG	0.701000													5	14					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563823	1563823	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:1563823T>C	ENST00000572621.1	-	29	4953	c.4688A>G	c.(4687-4689)cAc>cGc	p.H1563R	PRPF8_ENST00000304992.6_Missense_Mutation_p.H1563R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1563						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)		GATCTTGCCGTGCATGAAGAT	0.498000													81	58					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101200161	101200161	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:101200161G>T	ENST00000294728.2	+	8	1997	c.1896G>T	c.(1894-1896)tgG>tgT	p.W632C	VCAM1_ENST00000370119.4_Missense_Mutation_p.W570C|VCAM1_ENST00000370115.1_Missense_Mutation_p.W433C|VCAM1_ENST00000347652.2_Missense_Mutation_p.W540C	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	632	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CAGAAACATGGATAATCCTGA	0.423000													58	50					1.78197e-24	3.028e-24	1	1	0
RFTN2	130132	broad.mit.edu	37	2	198508892	198508892	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:198508892A>T	ENST00000295049.3	-	3	964	c.428T>A	c.(427-429)cTg>cAg	p.L143Q		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	143						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CTTTTCTATCAGTTCTTTTGC	0.388000													30	23					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903347	176903347	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:176903347C>G	ENST00000367654.2	-	16	2649	c.2636G>C	c.(2635-2637)tGg>tCg	p.W879S	ASTN1_ENST00000361833.2_Missense_Mutation_p.W871S|ASTN1_ENST00000424564.2_Missense_Mutation_p.W871S|ASTN1_ENST00000367657.3_Missense_Mutation_p.W871S			O14525	ASTN1_HUMAN	astrotactin 1	879					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						GTTTGGGTACCAGATAGAACA	0.512000													23	65					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11214514	11214514	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:11214514G>T	ENST00000409790.1	+	20	2389	c.2159G>T	c.(2158-2160)gGc>gTc	p.G720V	CLEC16A_ENST00000409552.3_Missense_Mutation_p.G702V|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	720								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCAAGGATGGCGGCATGGTC	0.542000													6	12					0.0215528	0.0221071	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56468496	56468496	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:56468496G>A	ENST00000312153.1	+	1	633	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCCCCGCAGTGCTCATCCTGG	0.542000													47	308					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011660	32011660	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:32011660T>A	ENST00000375244.3	-	35	11597	c.11396A>T	c.(11395-11397)cAg>cTg	p.Q3799L	TNXB_ENST00000451343.1_Missense_Mutation_p.Q228L|TNXB_ENST00000375247.2_Missense_Mutation_p.Q3797L			P22105	TENX_HUMAN	tenascin XB	3844					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCACACTCTGAGGCTCCCC	0.642000													27	41					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119388	3119388	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:3119388C>A	ENST00000304094.1	+	1	474	c.474C>A	c.(472-474)ccC>ccA	p.P158P		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ATGCCCTCCCCCACACTCTGC	0.507000													62	27					2.22609e-26	3.85022e-26	1	1	0
ZFP36	7538	broad.mit.edu	37	19	39899030	39899030	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:39899030C>G	ENST00000597629.1	+	2	764	c.690C>G	c.(688-690)gaC>gaG	p.D230E	ZFP36_ENST00000248673.3_Missense_Mutation_p.D224E			P26651	TTP_HUMAN	ZFP36 ring finger protein	224					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCTGGGGACCTTCCACTGT	0.697000													38	20					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802039	222802039	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:222802039A>G	ENST00000344922.5	+	4	1502	c.1477A>G	c.(1477-1479)Atg>Gtg	p.M493V	MIA3_ENST00000344441.6_Missense_Mutation_p.M493V|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	493					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCAAGAAGGCATGACTGTGCA	0.418000													163	113					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967545	142967545	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:142967545G>T	ENST00000370494.1	+	1	373	c.343G>T	c.(343-345)Gct>Tct	p.A115S		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	115							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTTAAATGCTCCCAATCC	0.448000													63	29					1.22119e-34	2.20791e-34	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98382580	98382580	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:98382580T>A	ENST00000186436.5	-	35	4948	c.4720A>T	c.(4720-4722)Agc>Tgc	p.S1574C		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1574						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TACTTACAGCTGCCAGGTTTG	0.493000													23	17					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173703194	173703194	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:173703194G>T	ENST00000209884.4	+	3	502	c.366G>T	c.(364-366)ctG>ctT	p.L122L	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	122	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGGAATTACTGATTGACTTTG	0.488000													48	45					2.77807e-22	4.53863e-22	1	1	0
MAP10	54627	broad.mit.edu	37	1	232942262	232942262	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:232942262G>T	ENST00000418460.1	+	1	1620	c.1493G>T	c.(1492-1494)aGt>aTt	p.S498I		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAGCATCCAAGTTCTGCAGCA	0.408000													43	52					3.61848e-18	5.47429e-18	1	1	0
MRO	83876	broad.mit.edu	37	18	48331523	48331523	+	Splice_Site	SNP	C	C	A	rs17852712		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:48331523C>A	ENST00000428869.2	-	6	688		c.e6+1		MRO_ENST00000398439.3_Splice_Site|MRO_ENST00000587291.1_Splice_Site|MRO_ENST00000436348.2_Splice_Site|MRO_ENST00000256425.2_Splice_Site|MRO_ENST00000431965.2_Splice_Site|MRO_ENST00000588444.1_Splice_Site			Q9BYG7	MSTRO_HUMAN	maestro							nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GATTTACTTACGTCATCTAAT	0.448000													37	19					9.8876e-21	1.56997e-20	1	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140865865	140865865	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:140865865G>T	ENST00000306593.1	+	1	1125	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_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)			TCAGTGTGCAGGATCCAGACT	0.542000													17	33					1.99824e-07	2.38943e-07	1	1	0
STARD3	10948	broad.mit.edu	37	17	37819108	37819108	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:37819108G>A	ENST00000336308.5	+	15	1503	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	STARD3_ENST00000544210.2_Missense_Mutation_p.E429K|STARD3_ENST00000394250.4_Missense_Mutation_p.E411K|STARD3_ENST00000580611.1_Silent_p.L410L	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	429	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	p.E429Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACCATGTTTGAATTTGCCTT	0.672000													73	25					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98416666	98416666	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:98416666G>A	ENST00000339364.5	-	3	575	c.456C>T	c.(454-456)gaC>gaT	p.D152D	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	152						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGCTCAGTGTCAGTGACTG	0.557000													31	32					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70257801	70257801	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:70257801G>C	ENST00000310961.5	+	5	698	c.280G>C	c.(280-282)Gct>Cct	p.A94P	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.A127P|LRRC7_ENST00000035383.5_Missense_Mutation_p.A89P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	89						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						AACCACTATTGCTAGTTTAGT	0.294000													31	51					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271251	9271251	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:9271251G>A	ENST00000247956.6	+	7	1235	c.930G>A	c.(928-930)caG>caA	p.Q310Q	ZNF317_ENST00000360385.3_Silent_p.Q278Q	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGTGTGATCAGTGCGGGAAGG	0.572000													49	20					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110765497	110765497	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:110765497G>A	ENST00000395494.2	+	7	1252	c.689G>A	c.(688-690)gGg>gAg	p.G230E	ATP2A2_ENST00000308664.6_Missense_Mutation_p.G257E|ATP2A2_ENST00000539276.2_Missense_Mutation_p.G257E			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	257					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATGAATTTGGGGAACAGCTT	0.458000													113	49					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436362	85436362	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:85436362G>T	ENST00000359152.5	-	1	2709	c.2710C>A	c.(2710-2712)Cct>Act	p.P904T	SYTL2_ENST00000525423.1_Missense_Mutation_p.P380T|SYTL2_ENST00000354566.3_Missense_Mutation_p.P380T|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron	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)		GTTTGAGAAGGGTGTACCCTA	0.488000													32	80					3.62531e-18	5.47429e-18	1	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070548	32070548	+	RNA	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:32070548G>T	ENST00000566806.1	-	0	499																											CCCACTTCCTGGTGCAGCTGG	0.582000													11	46					1.49906e-05	1.66344e-05	1	1	0
MYT1	4661	broad.mit.edu	37	20	62871769	62871769	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:62871769A>T	ENST00000536311.1	+	23	3779	c.3415A>T	c.(3415-3417)Atc>Ttc	p.I1139F	MYT1_ENST00000328439.1_Missense_Mutation_p.I1112F			Q01538	MYT1_HUMAN	myelin transcription factor 1	1112					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTGGAGAGCATCAAGCAGGC	0.592000													28	23					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813762	42813762	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:42813762A>T	ENST00000499536.2	+	1	837	c.26A>T	c.(25-27)cAg>cTg	p.Q9L	PRR19_ENST00000341747.3_Missense_Mutation_p.Q9L|PRR19_ENST00000598490.1_Missense_Mutation_p.Q9L			A6NJB7	PRR19_HUMAN	proline rich 19	9										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CCAGTCTCCCAGCCTTTTCAG	0.562000													51	21					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186335129	186335129	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:186335129C>T	ENST00000411641.2	+	4	782	c.563C>T	c.(562-564)gCt>gTt	p.A188V	AHSG_ENST00000273784.5_Missense_Mutation_p.A189V			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	188	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		ATTTCCCGGGCTCAGCTTGTG	0.567000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	15					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101644780	101644780	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:101644780G>T	ENST00000409318.1	-	13	2467	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	TBC1D8_ENST00000376840.4_Silent_p.I764I	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	764					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AGGAATCCCGGATCAGGTCCG	0.597000													5	24					0.014758	0.0151835	1	1	0
LETM2	137994	broad.mit.edu	37	8	38257831	38257831	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:38257831A>T	ENST00000379957.4	+	5	814	c.687A>T	c.(685-687)ctA>ctT	p.L229L	LETM2_ENST00000527710.1_Silent_p.L15L|LETM2_ENST00000297720.5_Silent_p.L134L|LETM2_ENST00000523983.2_Silent_p.L182L|LETM2_ENST00000524874.1_Silent_p.L181L	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	229	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGTTGGAACTAGCAAAATTTC	0.388000													17	87					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487152	248487152	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248487152G>C	ENST00000317965.2	-	1	747	c.719C>G	c.(718-720)aCt>aGt	p.T240S		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGGAACAAGTAGTAAAAGC	0.463000													199	168					0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63948230	63948230	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:63948230C>A	ENST00000260118.6	-	2	611	c.209G>T	c.(208-210)aGa>aTa	p.R70I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	70	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TGGTACAACTCTCGCACCTGC	0.373000													45	113					5.34276e-22	8.68678e-22	1	1	0
BAALC	79870	broad.mit.edu	37	8	104225207	104225207	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:104225207T>C	ENST00000309982.5	+	2	409	c.221T>C	c.(220-222)aTa>aCa	p.I74T	BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000297574.6_Missense_Mutation_p.I109T	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	109						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CCAGGTGGAATACCCAACCCA	0.577000													62	93					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216285400	216285400	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:216285400G>A	ENST00000354785.4	-	11	2040	c.1671C>T	c.(1669-1671)ccC>ccT	p.P557P	FN1_ENST00000357009.2_Silent_p.P557P|FN1_ENST00000421182.1_Silent_p.P557P|FN1_ENST00000446046.1_Silent_p.P557P|FN1_ENST00000432072.2_Silent_p.P557P|FN1_ENST00000345488.5_Silent_p.P557P|FN1_ENST00000443816.1_Silent_p.P557P|FN1_ENST00000359671.1_Silent_p.P557P|FN1_ENST00000357867.4_Silent_p.P557P|FN1_ENST00000356005.4_Silent_p.P557P|FN1_ENST00000346544.3_Silent_p.P557P|FN1_ENST00000336916.4_Silent_p.P557P|FN1_ENST00000323926.6_Silent_p.P557P|FN1_ENST00000426059.1_Silent_p.P557P			P02751	FINC_HUMAN	fibronectin 1	557	Collagen-binding.|Fibronectin type-I 8.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTCACCGACGGGATCACACT	0.483000													28	34					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810648	246810648	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:246810648G>T	ENST00000366513.4	+	9	1414	c.1145G>T	c.(1144-1146)gGg>gTg	p.G382V	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.G382V	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	382					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GAGACAGCAGGGAGCCCGTCT	0.592000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	179					2.14255e-21	3.42606e-21	1	1	0
RIT2	6014	broad.mit.edu	37	18	40503571	40503571	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:40503571A>G	ENST00000589109.1	-	4	563	c.392T>C	c.(391-393)gTg>gCg	p.V131A	RIT2_ENST00000282028.4_Missense_Mutation_p.V131A|RIT2_ENST00000326695.5_Missense_Mutation_p.V131A|RIT2_ENST00000590910.1_Missense_Mutation_p.W152R	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	131					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTGTTACCCACCAGCACCAG	0.468000													87	73					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64749457	64749457	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:64749457G>T	ENST00000557772.1	-	1	246	c.247C>A	c.(247-249)Cct>Act	p.P83T	ESR2_ENST00000554572.1_Missense_Mutation_p.P83T|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.P83T|ESR2_ENST00000267525.6_Missense_Mutation_p.P83T|ESR2_ENST00000553796.1_Missense_Mutation_p.P83T|ESR2_ENST00000555278.1_Missense_Mutation_p.P83T|ESR2_ENST00000358599.5_Missense_Mutation_p.P83T|ESR2_ENST00000542956.1_Missense_Mutation_p.P83T|ESR2_ENST00000357782.2_Missense_Mutation_p.P83T|ESR2_ENST00000341099.4_Missense_Mutation_p.P83T	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	83	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	AGGTGCCCAGGTGTTGGCCAC	0.512000													28	24					3.65163e-15	5.1472e-15	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104390596	104390596	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:104390596G>T	ENST00000361820.3	-	4	3040	c.2440C>A	c.(2440-2442)Cat>Aat	p.H814N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	814					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATATATTCATGCATCTCTGGG	0.438000													16	36					1.15088e-07	1.38105e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179457718	179457718	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:179457718T>A	ENST00000589042.1	-	300	59352	c.59128A>T	c.(59128-59130)Agc>Tgc	p.S19710C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S18069C|TTN_ENST00000460472.2_Missense_Mutation_p.S10645C|TTN_ENST00000342992.6_Missense_Mutation_p.S17142C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10837C|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10770C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18069	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S10645G(1)|p.S17140G(1)|p.S10770G(1)|p.S10837G(1)		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)			AGAATCTTGCTCCCACCATCA	0.418000													25	157					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112545811	112545811	+	Splice_Site	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:112545811C>A	ENST00000341068.3	-	39	5571	c.4799_splice	c.e39+1	p.R1600_splice		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1600					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.R1600Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAGACTCACCGGTTGTCAGT	0.408000													4	35					0.150653	0.152909	1	1	0
MFRP	83552	broad.mit.edu	37	11	119213315	119213315	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:119213315G>C	ENST00000555262.1	-	11	1537	c.1378C>G	c.(1378-1380)Cca>Gca	p.P460A	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.P460A|MFRP_ENST00000360167.4_Silent_p.S384S|MFRP_ENST00000530681.1_Missense_Mutation_p.P460A	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCTGGGGGTGGGAACAAGGGG	0.627000													8	15					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26217798	26217798	+	Splice_Site	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:26217798G>A	ENST00000380737.3	+	5	788		c.e5+1		PPP2R2A_ENST00000315985.7_Splice_Site	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACACTACGAGTAAGTACATA	0.358000													5	27					0	0	1	0	0
LOC643201	643201	broad.mit.edu	37	5	175581906	175581906	+	RNA	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:175581906G>T	ENST00000515403.1	-	0	2169				RP11-826N14.4_ENST00000510029.1_lincRNA	NR_036494.1																						ATCCAGAGCCGGTATTTGGTC	0.547000													5	16					0.000602214	0.000633025	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30926185	30926185	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:30926185A>T	ENST00000383096.3	-	9	830	c.648T>A	c.(646-648)gcT>gcA	p.A216A	CCDC178_ENST00000402325.1_Silent_p.A216A|CCDC178_ENST00000403303.1_Silent_p.A216A|CCDC178_ENST00000406524.2_Silent_p.A216A|CCDC178_ENST00000579947.1_Silent_p.A216A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Silent_p.A216A|CCDC178_ENST00000300227.8_Silent_p.A216A					coiled-coil domain containing 178																		CTTTCTGCACAGCCAATGGGA	0.323000													33	26					0	0	1	0	0
SPARC	6678	broad.mit.edu	37	5	151055697	151055697	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:151055697G>T	ENST00000231061.4	-	2	366	c.53C>A	c.(52-54)gCc>gAc	p.A18D		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	18					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	ACTTACAGGGGCTGCCAAGGC	0.552000													5	6					0.014758	0.0151835	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48593466	48593466	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:48593466C>T	ENST00000342988.3	+	10	1755	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	SMAD4_ENST00000398417.2_Missense_Mutation_p.A406V|SMAD4_ENST00000588745.1_Missense_Mutation_p.A310V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	406	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGTGACCACGCGGTCTTTGTA	0.438000													25	21					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556136	29556136	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:29556136T>C	ENST00000383640.2	+	1	454	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	139					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CCCCCGCCTGTGCTGGCAGCT	0.612000													103	39					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20825623	20825623	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:20825623A>C	ENST00000527915.1	+	15	1541	c.1536A>C	c.(1534-1536)aaA>aaC	p.K512N	PARP2_ENST00000429687.3_Missense_Mutation_p.K499N|PARP2_ENST00000250416.5_Missense_Mutation_p.K512N			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	512	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TTCAAGGTAAACATAGCACCA	0.483000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					23	48					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168274	19168274	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:19168274A>T	ENST00000375371.3	-	5	1561	c.1540T>A	c.(1540-1542)Tgc>Agc	p.C514S		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	514					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CACTCGAAGCAGCAGACGTGG	0.592000													36	44					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443752	74443752	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:74443752C>A	ENST00000339953.5	-	11	1357	c.1236G>T	c.(1234-1236)atG>atT	p.M412I		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	412	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCCTACCCCATGGCAGCAC	0.637000													8	28					1.76689e-08	2.15073e-08	1	1	0
FAM115A	9747	broad.mit.edu	37	7	143573263	143573263	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:143573263C>A	ENST00000479870.1	-	2	647	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	FAM115A_ENST00000355951.2_Missense_Mutation_p.G147C|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	147										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					ATGAGCAAGCCGCCACCACAT	0.527000													19	73					2.35188e-11	3.06649e-11	1	1	0
IGLON5	402665	broad.mit.edu	37	19	51827009	51827009	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:51827009G>T	ENST00000270642.8	+	3	252	c.252G>T	c.(250-252)cgG>cgT	p.R84R		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	84	Ig-like C2-type 1.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						GCGACCCGCGGGTGCGGCTGC	0.662000													14	14					1.49906e-05	1.66344e-05	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23236973	23236973	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:23236973C>A	ENST00000400191.3	+	14	2619	c.2601C>A	c.(2599-2601)cgC>cgA	p.R867R	EPHB2_ENST00000374632.3_Silent_p.R868R|EPHB2_ENST00000374627.1_Silent_p.R862R|EPHB2_ENST00000374630.3_Silent_p.R867R	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	867	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAAGGACCGCAACCACCGGC	0.582000													15	61					1.15088e-07	1.38105e-07	1	1	0
SLC18A3	6572	broad.mit.edu	37	10	50819648	50819648	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:50819648G>T	ENST00000374115.3	+	1	1302	c.862G>T	c.(862-864)Gac>Tac	p.D288Y	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	288					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCTCATGCTAGACCCCTACAT	0.642000													23	34					2.27525e-19	3.53812e-19	1	1	0
MKL2	57496	broad.mit.edu	37	16	14340802	14340802	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:14340802A>T	ENST00000571589.1	+	12	1857	c.1685A>T	c.(1684-1686)aAc>aTc	p.N562I	MKL2_ENST00000574045.1_Missense_Mutation_p.N562I|MKL2_ENST00000318282.5_Missense_Mutation_p.N562I|MKL2_ENST00000341243.5_Missense_Mutation_p.N551I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	551					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTCTGTCAAACCTGGAACTG	0.463000													7	64					0	0	1	0	0
MIR518C	574477	broad.mit.edu	37	19	54212014	54212014	+	RNA	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:54212014T>A	ENST00000384822.1	+	0	26					NR_030199.1																						GCTGTGACTCTCTGGAGGGAA	0.403000													25	18					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144460993	144460993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:144460993C>T	ENST00000295095.6	+	13	1311	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	RP11-434H14.1_ENST00000552220.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	382	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCCAGAAAAGCAAGACAACAA	0.348000													6	47					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578050	14578050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:14578050G>T	ENST00000544627.1	+	2	1545	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.E401*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E401*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E401*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E401*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	401	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAATGAAGATGAAACTTCTGC	0.338000													19	46					3.32936e-07	3.92575e-07	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167322376	167322376	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:167322376G>T	ENST00000409855.1	-	7	912	c.786C>A	c.(784-786)aaC>aaA	p.N262K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	262					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TATGTTTCAAGTTGCCCATGA	0.403000													36	34					1.36161e-19	2.13698e-19	1	1	0
SECISBP2L	9728	broad.mit.edu	37	15	49309088	49309088	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:49309088G>C	ENST00000559471.1	-	10	1639	c.1376C>G	c.(1375-1377)gCt>gGt	p.A459G	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.A414G	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	459								p.A414D(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATACTCTTGAGCTGTGGCAAG	0.363000													27	41					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190313	58190313	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:58190313C>G	ENST00000302581.2	-	1	473	c.422G>C	c.(421-423)tGt>tCt	p.C141S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGGGCCAGACAGGCACCTAC	0.498000													41	73					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493863	128493863	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:128493863C>A	ENST00000325888.8	+	39	6717	c.6456C>A	c.(6454-6456)agC>agA	p.S2152R	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2119R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2152					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCATCGGCAGCACCTGTGACC	0.662000													5	31					0.000602214	0.000633025	1	1	0
ANK2	287	broad.mit.edu	37	4	114251454	114251454	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:114251454A>T	ENST00000357077.4	+	27	3006	c.2953A>T	c.(2953-2955)Aga>Tga	p.R985*	ANK2_ENST00000394537.3_Nonsense_Mutation_p.R985*|ANK2_ENST00000264366.6_Nonsense_Mutation_p.R985*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.R976*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R194*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	985	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)		GCGAGGATGCAGACACAATGG	0.468000													22	20					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344272	248344272	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248344272C>G	ENST00000359682.2	+	1	985	c.985C>G	c.(985-987)Cta>Gta	p.L329V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	329					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTCTTCTTTCTAATATCCAT	0.338000													67	182					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554881	106554881	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:106554881C>A	ENST00000369096.4	+	7	2232	c.1998C>A	c.(1996-1998)gcC>gcA	p.A666A	PRDM1_ENST00000369091.2_Silent_p.A630A|PRDM1_ENST00000369089.3_Silent_p.A532A	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	666					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGTGCCCTGCCAAGTTCACCC	0.542000			"""D, N, Mis, F, S"""		DLBCL								60	74					8.28887e-21	1.32232e-20	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185731139	185731139	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:185731139A>T	ENST00000302277.6	+	2	749	c.155A>T	c.(154-156)gAt>gTt	p.D52V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	52						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTCTGGAAGATCTGAAGGCA	0.378000													10	66					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39338555	39338555	+	Missense_Mutation	SNP	G	G	T	rs144476070		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:39338555G>T	ENST00000280481.7	+	3	5594	c.5378G>T	c.(5377-5379)cGt>cTt	p.R1793L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1793	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTCTTAAACGTAGAGGTTAC	0.308000													22	18					1.22574e-08	1.49469e-08	1	1	0
RYR2	6262	broad.mit.edu	37	1	237895414	237895414	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:237895414C>A	ENST00000366574.2	+	78	11321	c.11004C>A	c.(11002-11004)atC>atA	p.I3668I	RYR2_ENST00000542537.1_Silent_p.I3652I|RYR2_ENST00000360064.6_Silent_p.I3666I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3668					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAGCTGATCCTTCTGTTTA	0.423000													25	59					1.5548e-18	2.37958e-18	1	1	0
LCE2B	26239	broad.mit.edu	37	1	152659519	152659519	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:152659519G>T	ENST00000368780.3	+	2	254	c.200G>T	c.(199-201)gGg>gTg	p.G67V	LCE2B_ENST00000417924.2_Missense_Mutation_p.G67V	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	67	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAACTCTGGGGCTGGTGGC	0.667000													74	181					8.70598e-44	1.63057e-43	1	1	0
EGFL8	80864	broad.mit.edu	37	6	32134378	32134378	+	Missense_Mutation	SNP	C	C	T	rs141849753		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:32134378C>T	ENST00000395512.1	+	3	310	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	EGFL8_ENST00000333845.6_Missense_Mutation_p.R69C|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	69	EMI.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGCTGGGAGGCGCATCTGCAG	0.612000													57	34					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151917800	151917800	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:151917800G>C	ENST00000355193.2	-	23	3738	c.3520C>G	c.(3520-3522)Cag>Gag	p.Q1174E	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q1174E					lysine (K)-specific methyltransferase 2C																		ACACCATCCTGGGTATAAGTC	0.363000													5	45					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457425	110457425	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:110457425T>G	ENST00000378402.5	+	38	5431	c.5327T>G	c.(5326-5328)tTg>tGg	p.L1776W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1776	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGACTGTTTTGGAGGACATT	0.403000										HNSCC(38;0.096)			41	70					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612197	20612197	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:20612197C>A	ENST00000333629.1	+	1	303	c.303C>A	c.(301-303)ctC>ctA	p.L101L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCACTCAGCTCTTTTTCTTGC	0.483000													127	56					1.34498e-63	2.6204e-63	1	1	0
KIFC1	3833	broad.mit.edu	37	6	33372692	33372692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:33372692C>T	ENST00000428849.2	+	7	1270	c.820C>T	c.(820-822)Cag>Tag	p.Q274*		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	274					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ATCTCTGCGGCAGGAGACTGT	0.577000													6	78					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459819	142459819	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:142459819C>A	ENST00000486171.1	+	4	454	c.437C>A	c.(436-438)cCt>cAt	p.P146H	PRSS1_ENST00000311737.7_Missense_Mutation_p.P132H			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	132	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCCACCGCCCCTCCAGCCACT	0.567000													22	70					3.62473e-10	4.59359e-10	1	1	0
NF1	4763	broad.mit.edu	37	17	29550532	29550532	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:29550532A>T	ENST00000358273.4	+	16	2175	c.1792A>T	c.(1792-1794)Aag>Tag	p.K598*	NF1_ENST00000356175.3_Nonsense_Mutation_p.K598*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	598					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAATTCTCAAGTGGTTGCG	0.308000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			49	18					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657690	143657690	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:143657690A>T	ENST00000392899.1	+	1	664	c.627A>T	c.(625-627)acA>acT	p.T209T		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTGATGACACCCTTCTGCC	0.488000													17	77					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91713957	91713957	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:91713957T>G	ENST00000356239.3	+	34	8883	c.8650T>G	c.(8650-8652)Tcc>Gcc	p.S2884A	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000359028.2_Intron	NM_005751.4|NM_147185.2	NP_005742.4|NP_671714.1	Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2896					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATTAGGGATCCTCAATTCC	0.303000			T	BRAF	papillary thyroid								10	47					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43295893	43295893	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:43295893C>A	ENST00000325110.6	-	6	1072	c.866G>T	c.(865-867)aGa>aTa	p.R289I	HMGCS1_ENST00000433297.2_Missense_Mutation_p.R289I	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	289					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATTTTTATCTCTATTCTGGTC	0.348000													54	110					2.13883e-14	2.97767e-14	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181793	81181793	+	RNA	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:81181793G>T	ENST00000533478.1	-	0	2978				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGGCTGTGGGGAGGGAGTCA	0.607000													5	27					0.184627	0.186553	1	1	0
TTBK1	84630	broad.mit.edu	37	6	43227001	43227001	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:43227001C>G	ENST00000259750.4	+	11	1325	c.1242C>G	c.(1240-1242)atC>atG	p.I414M	TTBK1_ENST00000304139.5_Missense_Mutation_p.I363M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	414						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGATCAACATCGGCAAAGTAA	0.637000													41	28					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967648	161967648	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:161967648G>C	ENST00000294794.3	-	6	1864	c.1441C>G	c.(1441-1443)Ccc>Gcc	p.P481A	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P482A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	481										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCTTCTTCGGGGCTCAGCGTG	0.557000													118	120					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110589343	110589343	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:110589343G>T	ENST00000369795.3	+	13	1480	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	STRIP1_ENST00000369796.1_Missense_Mutation_p.E391D	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CACAGATGGAGGAGGAATACC	0.592000													36	123					6.05902e-23	1.0044e-22	1	1	0
AKAP11	11215	broad.mit.edu	37	13	42877890	42877890	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:42877890A>T	ENST00000025301.2	+	8	5183	c.5008A>T	c.(5008-5010)Agc>Tgc	p.S1670C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1670					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAGCAGTACCAGCCTGGCAGC	0.512000													10	33					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55021021	55021021	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:55021021C>A	ENST00000371336.3	+	3	726	c.525C>A	c.(523-525)gaC>gaA	p.D175E	CASS4_ENST00000360314.3_Missense_Mutation_p.D175E|CASS4_ENST00000434344.1_Missense_Mutation_p.D175E	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	175					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGTGTATGACGTGCCTACCC	0.617000													7	33					8.12818e-05	8.80337e-05	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	71175857	71175857	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:71175857C>A	ENST00000333538.5	+	10	2246	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	538	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTGCCCCAGCTCCTGGACTG	0.607000													13	34					2.68362e-12	3.53987e-12	1	1	0
SCML4	256380	broad.mit.edu	37	6	108042040	108042040	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:108042040C>A	ENST00000369022.2	-	5	875	c.666G>T	c.(664-666)ggG>ggT	p.G222G	SCML4_ENST00000369021.3_Silent_p.G251G|SCML4_ENST00000369020.3_Silent_p.G280G|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369025.2_Silent_p.G38G			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CAGGACCACCCCCAAGGTGGC	0.662000													9	53					0.000274275	0.000292388	1	1	0
TAF4	6874	broad.mit.edu	37	20	60578914	60578914	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:60578914C>A	ENST00000252996.3	-	8	2243	c.2244G>T	c.(2242-2244)aaG>aaT	p.K748N	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	748					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGGCTCCTGGCTTCGGAGGCT	0.657000													5	34					0.000602214	0.000633025	1	1	0
GPR180	160897	broad.mit.edu	37	13	95279405	95279405	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:95279405A>T	ENST00000376958.4	+	9	1328	c.1303A>T	c.(1303-1305)Aaa>Taa	p.K435*		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	435						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATCTGGACACAAAAGTCGCCC	0.368000													35	22					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029567	119029567	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:119029567G>T	ENST00000307417.3	+	12	1729	c.1365G>T	c.(1363-1365)agG>agT	p.R455S	ABCG4_ENST00000531739.1_Missense_Mutation_p.R455S|ABCG4_ENST00000449422.2_Missense_Mutation_p.R455S	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	455	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCTTCATGAGGGAGCACCTCA	0.622000													63	164					3.61411e-23	6.03539e-23	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36608551	36608551	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:36608551C>A	ENST00000265113.4	+	2	502	c.26C>A	c.(25-27)cCc>cAc	p.P9H	SLC1A3_ENST00000381918.3_Missense_Mutation_p.P9H|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	9					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GGAGAAGAGCCCAAGATGGGG	0.463000													13	159					9.31168e-06	1.05222e-05	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043592	20043592	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:20043592C>A	ENST00000570682.1	-	2	827	c.527G>T	c.(526-528)aGc>aTc	p.S176I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	176						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CACAGAGGTGCTGATGTAGTC	0.507000													23	61					2.39556e-15	3.40502e-15	1	1	0
C6orf118	168090	broad.mit.edu	37	6	165713955	165713955	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:165713955C>A	ENST00000543069.1	-	3	1043	c.462G>T	c.(460-462)acG>acT	p.T154T	C6orf118_ENST00000230301.8_Silent_p.T258T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	258										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GGGGGCTGCACGTGCAAATTT	0.433000													14	115					1.5548e-18	2.37958e-18	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51656068	51656068	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:51656068T>C	ENST00000371117.3	-	53	8681	c.8406A>G	c.(8404-8406)gcA>gcG	p.A2802A	PKHD1_ENST00000340994.4_Silent_p.A2802A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2802	G8 2.				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)					TGACCATGCATGCCACACTCA	0.483000													8	140					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355769	10355769	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:10355769A>T	ENST00000255381.2	-	26	3422	c.3312T>A	c.(3310-3312)ctT>ctA	p.L1104L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1104					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTATTGCAAGGGCTTGTT	0.353000													21	25					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27765222	27765222	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:27765222G>T	ENST00000333743.6	+	7	1071	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	273					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TTTATCCTGGGTGTCATTTTG	0.353000													9	4					2.74318e-10	3.52249e-10	1	1	0
MACF1	23499	broad.mit.edu	37	1	39800593	39800593	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:39800593G>T	ENST00000564288.1	+	37	9110	c.8333G>T	c.(8332-8334)gGg>gTg	p.G2778V	MACF1_ENST00000289893.4_Missense_Mutation_p.G1218V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.G2783V|MACF1_ENST00000567887.1_Missense_Mutation_p.G2815V|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2783					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGCAAGAAGGGATTGAAGTG	0.373000													6	105					8.12818e-05	8.80337e-05	1	1	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988819	31988819	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr21:31988819C>A	ENST00000334664.2	+	1	70	c.46C>A	c.(46-48)Ctt>Att	p.L16I		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	16						intermediate filament				breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						GTATGGTGGGCTTGGCTGTGG	0.458000													35	74					1.42033e-22	2.33734e-22	1	1	0
TNN	63923	broad.mit.edu	37	1	175063278	175063278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:175063278G>T	ENST00000239462.4	+	7	1590	c.1477G>T	c.(1477-1479)Gag>Tag	p.E493*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	493	Fibronectin type-III 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACAAGGATGAGAGCAGCAC	0.552000													36	30					3.03874e-20	4.79131e-20	1	1	0
PTGDR	5729	broad.mit.edu	37	14	52735209	52735209	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:52735209A>G	ENST00000306051.2	+	1	779	c.677A>G	c.(676-678)tAt>tGt	p.Y226C	PTGDR_ENST00000553372.1_Missense_Mutation_p.Y226C	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	226						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.Y226C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCAACCTCTATGCGATGCAC	0.701000													40	30					0	0	1	0	0
IFNGR1	3459	broad.mit.edu	37	6	137525554	137525554	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:137525554C>A	ENST00000367739.4	-	4	582	c.461G>T	c.(460-462)gGa>gTa	p.G154V	IFNGR1_ENST00000367735.2_Missense_Mutation_p.G144V|IFNGR1_ENST00000543628.1_Missense_Mutation_p.G126V	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	154					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTGCTCGTCTCCATTTACAAA	0.413000													14	79					6.72482e-11	8.7012e-11	1	1	0
RCOR2	283248	broad.mit.edu	37	11	63681469	63681469	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:63681469G>T	ENST00000301459.4	-	8	1235	c.848C>A	c.(847-849)aCg>aAg	p.T283K		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						ACCTCGGAGCGTGAGGTTGGC	0.627000													7	188					0.000157383	0.000169106	1	1	0
FGF21	26291	broad.mit.edu	37	19	49261321	49261321	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:49261321C>T	ENST00000593756.1	+	4	1046	c.474C>T	c.(472-474)ccC>ccT	p.P158P	FGF21_ENST00000222157.3_Silent_p.P158P			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	158					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ACCCTGCACCCCGAGGACCAG	0.682000													48	19					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35242226	35242226	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:35242226A>G	ENST00000408931.3	-	8	1686	c.1160T>C	c.(1159-1161)cTg>cCg	p.L387P		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	387						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						ATATGGTGGCAGAGAACCCTG	0.572000													12	27					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158672580	158672580	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:158672580G>T	ENST00000407559.3	+	5	937	c.779G>T	c.(778-780)cGa>cTa	p.R260L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	260										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAGAAAAGCGACACAAAGAA	0.398000													13	32					4.3838e-07	5.15116e-07	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713206	70713206	+	RNA	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:70713206C>A	ENST00000530196.1	-	0	1312					NR_003951.1																						CAGACATGATCCCTGGTTTAA	0.443000													33	48					7.11191e-15	9.92155e-15	1	1	0
TDRD3	81550	broad.mit.edu	37	13	61060026	61060026	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:61060026G>T	ENST00000196169.3	+	7	1170	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	TDRD3_ENST00000377894.2_Missense_Mutation_p.D128Y|TDRD3_ENST00000377881.2_Missense_Mutation_p.D128Y|TDRD3_ENST00000535286.1_Missense_Mutation_p.D221Y	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	128					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAATGATAATGATGAATTTGA	0.348000													14	13					0.000422831	0.000449341	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	64					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	49					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177906631	177906631	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:177906631C>A	ENST00000308284.6	-	19	2310	c.2221G>T	c.(2221-2223)Gac>Tac	p.D741Y	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	741					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCAGAAAAGTCCTGGTAGAAA	0.512000													8	15					0.0381472	0.0390103	1	1	0
MARS2	92935	broad.mit.edu	37	2	198571610	198571610	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:198571610A>T	ENST00000282276.6	+	1	1524	c.1481A>T	c.(1480-1482)aAg>aTg	p.K494M	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	494					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCACCATGGAAGCTGAACTGG	0.527000													24	133					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261320	49261320	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:49261320C>A	ENST00000593756.1	+	4	1045	c.473C>A	c.(472-474)cCc>cAc	p.P158H	FGF21_ENST00000222157.3_Missense_Mutation_p.P158H			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	158					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GACCCTGCACCCCGAGGACCA	0.682000													50	19					4.64027e-19	7.16651e-19	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107930735	107930735	+	Missense_Mutation	SNP	C	C	T	rs104886412		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:107930735C>T	ENST00000328300.6	+	49	4583	c.4339C>T	c.(4339-4341)Cct>Tct	p.P1447S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1441S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1441	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGATGGTCCCCCTGGTCCAGA	0.473000									Alport syndrome with Diffuse Leiomyomatosis				72	23					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167839517	167839517	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:167839517G>A	ENST00000367848.1	-	14	1815	c.1318C>T	c.(1318-1320)Ctg>Ttg	p.L440L	ADCY10_ENST00000367851.4_Silent_p.L532L|ADCY10_ENST00000545172.1_Silent_p.L379L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	532					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTTGGGCCAGGTACTCAATT	0.378000													21	63					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179525598	179525598	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:179525598G>T	ENST00000467460.1	-	14	1870	c.1540C>A	c.(1540-1542)Ctc>Atc	p.L514I	PEX5L_ENST00000472994.1_Missense_Mutation_p.L455I|PEX5L_ENST00000465751.1_Missense_Mutation_p.L490I|PEX5L_ENST00000485199.1_Missense_Mutation_p.L479I|PEX5L_ENST00000476138.1_Missense_Mutation_p.L471I|PEX5L_ENST00000468741.1_Missense_Mutation_p.L322I|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Missense_Mutation_p.L406I|PEX5L_ENST00000392649.3_Missense_Mutation_p.L406I|PEX5L_ENST00000263962.8_Missense_Mutation_p.L512I	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	514					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GTCGCCCCGAGGCGGTTCCAT	0.517000													97	37					1.59228e-47	3.04104e-47	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32740674	32740674	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:32740674A>G	ENST00000421745.2	+	55	11320	c.11186A>G	c.(11185-11187)cAt>cGt	p.H3729R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3729					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTGGAAGCCATAATTTAGGT	0.443000													51	41					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152716775	152716775	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:152716775A>G	ENST00000367255.5	-	51	8189	c.7588T>C	c.(7588-7590)Tgg>Cgg	p.W2530R	SYNE1_ENST00000265368.4_Missense_Mutation_p.W2530R|SYNE1_ENST00000423061.1_Missense_Mutation_p.W2537R|SYNE1_ENST00000448038.1_Missense_Mutation_p.W2537R|SYNE1_ENST00000341594.5_Missense_Mutation_p.W2569R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2530					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATGGATCCATAAGTTCAGT	0.333000										HNSCC(10;0.0054)			7	64					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97400163	97400163	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:97400163T>A	ENST00000264963.4	-	3	429	c.407A>T	c.(406-408)aAg>aTg	p.K136M	LMAN2L_ENST00000537039.1_De_novo_Start_InFrame|LMAN2L_ENST00000426463.2_Missense_Mutation_p.R19W|LMAN2L_ENST00000534882.1_Missense_Mutation_p.R19W|LMAN2L_ENST00000377079.4_Missense_Mutation_p.K136M	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	136	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CATCCGATCCTTTGTGTACCA	0.488000													16	84					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39619141	39619141	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:39619141C>A	ENST00000225899.3	-	6	1261	c.1158G>T	c.(1156-1158)cgG>cgT	p.R386R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	386	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCAGCCGGGCCCGGACGTCCA	0.637000													35	18					2.47907e-22	4.05992e-22	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201021749	201021749	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:201021749C>A	ENST00000362061.3	-	32	4115	c.3889G>T	c.(3889-3891)Ggg>Tgg	p.G1297W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1278W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1297					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)	ATTTGGGTCCCATCCACCAAG	0.562000													32	82					2.85442e-18	4.33922e-18	1	1	0
ZCRB1	85437	broad.mit.edu	37	12	42707554	42707554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:42707554C>A	ENST00000266529.3	-	7	643	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Nonsense_Mutation_p.E113*	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	154					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TCTTCACTTTCTTCTACTTCC	0.358000													69	28					1.15062e-32	2.06381e-32	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25423714	25423714	+	RNA	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:25423714A>T	ENST00000441592.2	+	0	285																											CTGTGGAAGAAGACTTGCTTT	0.622000													19	14					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030431	170030431	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:170030431C>A	ENST00000263816.3	-	56	11297	c.11012G>T	c.(11011-11013)tGc>tTc	p.C3671F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3671	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAACTTACTGCATTCTTCAAT	0.537000													10	90					3.86212e-05	4.24395e-05	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247655150	247655150	+	RNA	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:247655150C>T	ENST00000522351.1	+	0	781							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTTCCACACCTGCTCTTCTC	0.562000													49	126					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120633667	120633667	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:120633667C>A	ENST00000427067.2	-	4	553	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	ENPP2_ENST00000522826.1_Missense_Mutation_p.D129Y|ENPP2_ENST00000259486.6_Missense_Mutation_p.D129Y|ENPP2_ENST00000075322.6_Missense_Mutation_p.D129Y			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	129	SMB 2.				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)			GTACAGCAGTCTCCCCTGGCC	0.473000													12	68					0.00010058	0.000108588	1	1	0
CSF1R	1436	broad.mit.edu	37	5	149460370	149460370	+	Missense_Mutation	SNP	G	G	C	rs143080503	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:149460370G>C	ENST00000286301.3	-	3	558	c.267C>G	c.(265-267)gaC>gaG	p.D89E	CSF1R_ENST00000543093.1_Missense_Mutation_p.D89E	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	89	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTCCCAGGGGGTCTCCAGGCT	0.617000													10	19					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12408926	12408926	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:12408926A>G	ENST00000358136.3	+	45	9246	c.9116A>G	c.(9115-9117)gAa>gGa	p.E3039G	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3014G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3038					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGACTATGGAAGGCAGTGCA	0.453000													13	62					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115298329	115298329	+	Silent	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:115298329C>G	ENST00000357872.4	+	1	139	c.15C>G	c.(13-15)tcC>tcG	p.S5S	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		5					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GGCCCCCTTCCAGCTCAGGCT	0.687000													4	26					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771750	100771750	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:100771750C>A	ENST00000223095.4	+	2	233	c.76C>A	c.(76-78)Cat>Aat	p.H26N	SERPINE1_ENST00000445463.2_Missense_Mutation_p.H26N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	26					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TGCTGTGCACCATCCCCCATC	0.612000													11	39					0.00829132	0.00858246	1	1	0
RGS19	10287	broad.mit.edu	37	20	62705381	62705381	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:62705381C>T	ENST00000395042.1	-	6	745	c.479G>A	c.(478-480)cGt>cAt	p.R160H	RGS19_ENST00000332298.5_Missense_Mutation_p.R160H	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	160	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTCCCGCACACGGGAGTCCAG	0.652000													15	45					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007947	32007947	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:32007947T>C	ENST00000418967.2	+	7	1062	c.904T>C	c.(904-906)Tcc>Ccc	p.S302P	CYP21A2_ENST00000435122.2_Missense_Mutation_p.S272P	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	301					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AAACACCCTCTCCTGGGCCGT	0.617000													23	206					0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64757246	64757246	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:64757246C>A	ENST00000301887.4	-	3	310	c.180G>T	c.(178-180)cgG>cgT	p.R60R	BATF2_ENST00000435842.2_5'UTR|BATF2_ENST00000527716.1_Silent_p.R36R	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	60	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GGATCTCCTTCCGCAGGGCGA	0.652000													16	38					9.16793e-09	1.11997e-08	1	1	0
ZCCHC4	29063	broad.mit.edu	37	4	25351147	25351147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:25351147G>T	ENST00000302874.4	+	7	817	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	265							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ATTTTTACAGGAAGATAAAGG	0.403000													66	139					3.13296e-38	5.78787e-38	1	1	0
TTN	7273	broad.mit.edu	37	2	179604906	179604906	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:179604906G>C	ENST00000589042.1	-	48	13278	c.13054C>G	c.(13054-13056)Ccc>Gcc	p.P4352A	TTN_ENST00000591111.1_Missense_Mutation_p.P4035A|TTN_ENST00000460472.2_Missense_Mutation_p.P3989A|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P4181A|TTN_ENST00000359218.5_Missense_Mutation_p.P4114A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4035	Ig-like 23.						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)			TGGTCTGGGGGCATCACCACG	0.463000													15	63					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	4					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26156320	26156320	+	Splice_Site	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:26156320C>G	ENST00000374301.3	+	6	1080	c.773_splice	c.e6+1	p.L258_splice	MTFR1L_ENST00000374307.5_Splice_Site_p.L246_splice|MTFR1L_ENST00000524618.1_Splice_Site_p.L161_splice|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374300.3_Splice_Site_p.L258_splice|MTFR1L_ENST00000466284.1_3'UTR|MTFR1L_ENST00000526894.1_3'UTR|MTFR1L_ENST00000474295.1_3'UTR|MTFR1L_ENST00000374303.2_Splice_Site_p.L258_splice	NM_019557.5	NP_062457.3			mitochondrial fission regulator 1-like																		GAGTCAAGATCTGTAAGTATC	0.428000													4	30					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903577	38903577	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:38903577C>G	ENST00000454404.2	-	12	1640	c.1427G>C	c.(1426-1428)cGc>cCc	p.R476P	RASGRP4_ENST00000433821.2_Missense_Mutation_p.R418P|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R441P|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R321P|RASGRP4_ENST00000587738.1_Missense_Mutation_p.R510P|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R413P|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R496P	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	510	EF-hand.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTACCCCTGGCGTGGGGGTGG	0.582000													39	12					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30514484	30514484	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:30514484C>A	ENST00000376621.3	-	11	2541	c.1571G>T	c.(1570-1572)aGt>aTt	p.S524I		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	524					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTTCTGTTCACTGTAGCCTGG	0.577000													100	46					2.34548e-53	4.50492e-53	1	1	0
TCERG1	10915	broad.mit.edu	37	5	145849133	145849133	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:145849133A>G	ENST00000296702.5	+	7	1263	c.1225A>G	c.(1225-1227)Atc>Gtc	p.I409V	TCERG1_ENST00000394421.2_Missense_Mutation_p.I388V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	409					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCCCTCCTATCGTACCCAT	0.388000													48	135					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108475927	108475927	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:108475927C>A	ENST00000408999.3	+	11	1628	c.1551C>A	c.(1549-1551)ccC>ccA	p.P517P	RGPD4_ENST00000354986.4_Silent_p.P517P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	517					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TATGCCTGCCCCTTCCTGTAT	0.393000													35	253					1.66425e-11	2.17411e-11	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72863552	72863552	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:72863552C>A	ENST00000261180.4	+	4	1291	c.1195C>A	c.(1195-1197)Cct>Act	p.P399T		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	399					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTAGCTGTGCCTAAGCATCC	0.358000													35	31					1.60099e-16	2.35459e-16	1	1	0
RALYL	138046	broad.mit.edu	37	8	85800003	85800003	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:85800003C>A	ENST00000521268.1	+	8	1955	c.850C>A	c.(850-852)Cat>Aat	p.H284N	RALYL_ENST00000522455.1_Missense_Mutation_p.H284N|RALYL_ENST00000517638.1_Missense_Mutation_p.H297N|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.H284N|RALYL_ENST00000523850.1_Missense_Mutation_p.H211N|RALYL_ENST00000518566.1_Missense_Mutation_p.H273N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	284							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGATGGGGGTCATGAGCTGGT	0.443000													47	76					2.215e-12	2.92743e-12	1	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49964104	49964104	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:49964104C>T	ENST00000293350.4	+	5	688	c.525C>T	c.(523-525)ccC>ccT	p.P175P	ALDH16A1_ENST00000455361.2_Silent_p.P175P|ALDH16A1_ENST00000540132.1_Silent_p.P12P|ALDH16A1_ENST00000433981.2_Silent_p.P10P	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	175							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCCTGCCACCCACATTCTCCT	0.537000													25	19					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004437	248004437	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248004437G>T	ENST00000355784.2	-	1	817	c.762C>A	c.(760-762)acC>acA	p.T254T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAGATCATGGTCCCGTAGT	0.507000													60	53					1.4709e-25	2.53114e-25	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152501431	152501431	+	Splice_Site	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:152501431T>A	ENST00000367255.5	-	129	23903		c.e129-2		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGGAGAGCTGAAAAGTTTA	0.383000										HNSCC(10;0.0054)			9	43					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215824105	215824105	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:215824105G>T	ENST00000366943.2	-	65	14558	c.14172C>A	c.(14170-14172)agC>agA	p.S4724R	USH2A_ENST00000307340.3_Missense_Mutation_p.S4724R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4724	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCATGTCCAGCTACTGGGGG	0.517000										HNSCC(13;0.011)			16	178					0.000308642	0.000328507	1	1	0
PHF3	23469	broad.mit.edu	37	6	64416653	64416653	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:64416653A>G	ENST00000262043.3	+	13	3938	c.3598A>G	c.(3598-3600)Acc>Gcc	p.T1200A	PHF3_ENST00000393387.1_Missense_Mutation_p.T1200A			Q92576	PHF3_HUMAN	PHD finger protein 3	1200					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTTGAGTCTACCTTTCTGGC	0.408000													55	49					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29448358	29448358	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:29448358G>T	ENST00000389048.3	-	19	4047	c.3141C>A	c.(3139-3141)gcC>gcA	p.A1047A	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1047					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCAGGACCAGGGCGGCCACGA	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				6	6					0.00448238	0.00466113	1	1	0
CUBN	8029	broad.mit.edu	37	10	17152971	17152971	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:17152971G>T	ENST00000377833.4	-	9	1027	c.962C>A	c.(961-963)cCc>cAc	p.P321H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	321	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACTCAACGGGTGGAGCCAC	0.507000													9	61					0.0581538	0.0592906	1	1	0
BRINP2	57795	broad.mit.edu	37	1	177199114	177199114	+	Silent	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:177199114C>G	ENST00000361539.4	+	2	414	c.102C>G	c.(100-102)gtC>gtG	p.V34V		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		34						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGTTGGCTGTCTCAGCCACGG	0.697000													18	53					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6832113	6832113	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:6832113G>T	ENST00000304076.2	+	15	1504	c.1410G>T	c.(1408-1410)atG>atT	p.M470I	VAV1_ENST00000596764.1_Missense_Mutation_p.M438I|VAV1_ENST00000539284.1_Missense_Mutation_p.M373I|VAV1_ENST00000599806.1_Missense_Mutation_p.M415I|VAV1_ENST00000602142.1_Missense_Mutation_p.M470I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	470	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAGCCACATGTTCCTCCTGA	0.567000													9	23					1.12685e-05	1.26701e-05	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416396	105416396	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:105416396C>A	ENST00000333244.5	-	7	5511	c.5392G>T	c.(5392-5394)Gcc>Tcc	p.A1798S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1798						nucleus				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)			TCCAGCTTGGCTCCTGGAGCC	0.627000													63	128					1.1362e-29	2.0166e-29	1	1	0
DACH1	1602	broad.mit.edu	37	13	72134085	72134085	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:72134085C>G	ENST00000305425.4	-	5	1730	c.1308G>C	c.(1306-1308)gaG>gaC	p.E436D	DACH1_ENST00000359684.2_Missense_Mutation_p.E488D|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	486					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGGAACACGCTCCTGCACCA	0.498000													9	9					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140082271	140082271	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:140082271T>C	ENST00000326232.9	-	2	259	c.56A>G	c.(55-57)cAt>cGt	p.H19R	SLC37A3_ENST00000340308.3_Missense_Mutation_p.H19R|SLC37A3_ENST00000447932.2_Missense_Mutation_p.H19R|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000429996.2_Missense_Mutation_p.H19R	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	19					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TACAACATGATGATGGCTGAA	0.443000													15	33					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145613128	145613128	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:145613128G>T	ENST00000265271.5	+	7	1132	c.966G>T	c.(964-966)ggG>ggT	p.G322G	RBM27_ENST00000506502.1_Silent_p.G322G	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	322	Pro-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.G322G(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTCCTGGGCTTCCTCCTC	0.582000													74	30					1.24833e-42	2.3316e-42	1	1	0
GPR124	25960	broad.mit.edu	37	8	37691558	37691558	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:37691558G>A	ENST00000315215.7	+	11	1883	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	GPR124_ENST00000412232.2_Missense_Mutation_p.R507H			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	507					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGGCCCAGCGCGAGGACAAG	0.667000													70	55					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887296	25887296	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:25887296T>C	ENST00000376351.3	+	11	3100	c.2741T>C	c.(2740-2742)cTt>cCt	p.L914P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	914						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGAAGACTCTTGGATTAGCT	0.458000													28	108					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282103	168282103	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:168282103G>T	ENST00000367821.3	+	8	1261	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	404					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CACTTCGGCTGGTGTGGAGGT	0.652000													21	49					2.89027e-11	3.74685e-11	1	1	0
DENND4C	55667	broad.mit.edu	37	9	19332140	19332140	+	Silent	SNP	A	A	C	rs142191750	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:19332140A>C	ENST00000380432.2	+	13	1743	c.1710A>C	c.(1708-1710)gtA>gtC	p.V570V	DENND4C_ENST00000434457.2_Silent_p.V806V|DENND4C_ENST00000602925.1_Silent_p.V806V|DENND4C_ENST00000540671.1_Intron|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	570						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATATGATGTACTTATTAAGA	0.338000													4	64					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512421	71512421	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:71512421C>A	ENST00000370924.4	-	1	1070	c.840G>T	c.(838-840)acG>acT	p.T280T	PTGER3_ENST00000370932.2_Silent_p.T280T|PTGER3_ENST00000306666.5_Silent_p.T280T|PTGER3_ENST00000351052.5_Silent_p.T280T|PTGER3_ENST00000414819.1_Silent_p.T280T|PTGER3_ENST00000370931.3_Silent_p.T280T|PTGER3_ENST00000460330.1_Silent_p.T280T|PTGER3_ENST00000356595.4_Silent_p.T280T|PTGER3_ENST00000354608.5_Silent_p.T280T	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	280					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCTGAATGGCCGTCTCGGTCG	0.637000													22	39					4.35082e-09	5.37314e-09	1	1	0
DSP	1832	broad.mit.edu	37	6	7585464	7585464	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:7585464A>T	ENST00000379802.3	+	24	8310	c.7969A>T	c.(7969-7971)Aca>Tca	p.T2657S	DSP_ENST00000418664.2_Missense_Mutation_p.T2058S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2657	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGGCCTGCACAGGTGGCAT	0.562000													29	188					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673837	151673837	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:151673837T>A	ENST00000402676.2	+	4	4551	c.4311T>A	c.(4309-4311)atT>atA	p.I1437I	AKAP12_ENST00000354675.6_Silent_p.I1339I|AKAP12_ENST00000253332.1_Silent_p.I1437I|AKAP12_ENST00000359755.5_Silent_p.I1332I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1437					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)		CTGCCAACATTTTAGAAACAG	0.458000													45	51					0	0	1	0	0
CASP3	836	broad.mit.edu	37	4	185553509	185553509	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:185553509G>T	ENST00000308394.4	-	5	482	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	CASP3_ENST00000523916.1_Missense_Mutation_p.L74I|CASP3_ENST00000393585.2_Missense_Mutation_p.L74I|CASP3_ENST00000393588.4_Missense_Mutation_p.L74I|CASP3_ENST00000517513.1_Missense_Mutation_p.L74I	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	74					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GTTTCCCTGAGGTTTGCTGCA	0.348000													6	42					0.217242	0.218856	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11603164	11603164	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:11603164T>C	ENST00000262442.3	+	23	5057	c.4989T>C	c.(4987-4989)taT>taC	p.Y1663Y	DNAH9_ENST00000454412.2_Silent_p.Y1663Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1663	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)		AAGAGGAGTATGTGGCTTTCA	0.498000													26	14					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233347298	233347298	+	Missense_Mutation	SNP	G	G	A	rs137943112	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:233347298G>A	ENST00000304546.1	-	11	1916	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A567V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	569					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCATTGAGCGCCTGTGGGGG	0.617000													34	60					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151932938	151932938	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:151932938C>G	ENST00000355193.2	-	16	2951	c.2733G>C	c.(2731-2733)aaG>aaC	p.K911N	KMT2C_ENST00000262189.6_Missense_Mutation_p.K911N					lysine (K)-specific methyltransferase 2C																		CACTTTTCAGCTTTGACCTGC	0.483000													33	100					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41804969	41804969	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:41804969C>T	ENST00000263800.6	-	3	391	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Missense_Mutation_p.V99M|LTK_ENST00000453182.2_Missense_Mutation_p.V99M	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	99					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCGGCCCCCACGGTCACCACC	0.692000										TSP Lung(18;0.14)			3	17					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156393	155156393	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:155156393C>A	ENST00000357232.3	-	25	8045	c.8046G>T	c.(8044-8046)agG>agT	p.R2682S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTCTGAGTCCCTCGGGATAC	0.532000													37	17					3.33393e-15	4.71901e-15	1	1	0
DYNAP	284254	broad.mit.edu	37	18	52262228	52262228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:52262228C>A	ENST00000321600.1	+	2	240	c.194C>A	c.(193-195)tCa>tAa	p.S65*	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		TGTCTACCTTCAAATGATATA	0.463000													52	32					4.44712e-29	7.85195e-29	1	1	0
IFI44L	10964	broad.mit.edu	37	1	79107195	79107195	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:79107195G>C	ENST00000370751.4	+	8	1404	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q	IFI44L_ENST00000342282.3_Missense_Mutation_p.E151Q|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	409						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCAGATTTGGAACTGGACCC	0.403000													8	72					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543134	133543134	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:133543134G>T	ENST00000409261.1	-	14	1623	c.1250C>A	c.(1249-1251)cCc>cAc	p.P417H	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P417H|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	417							protein binding	p.P417Q(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACTGATGGGGGTTCAAGTAA	0.408000													17	57					8.28177e-16	1.18461e-15	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179638531	179638531	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:179638531C>T	ENST00000444136.1	+	17	3102	c.2852C>T	c.(2851-2853)tCt>tTt	p.S951F	TDRD5_ENST00000294848.8_Missense_Mutation_p.S897F|TDRD5_ENST00000367614.1_Missense_Mutation_p.S897F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	897					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAAAAGCCCTCTGGTTCTGGT	0.443000													14	88					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843039	22843039	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:22843039C>G	ENST00000360412.2	-	4	1460	c.685G>C	c.(685-687)Gtt>Ctt	p.V229L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.V229L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCATTCTGAACATGGCTTAAT	0.368000													22	67					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113754	94113754	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:94113754T>C	ENST00000243673.2	-	4	1004	c.833A>G	c.(832-834)gAg>gGg	p.E278G	GPR83_ENST00000539203.2_Missense_Mutation_p.E236G	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	278						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAAGTACTGCTCTGTGGTCAC	0.527000													14	58					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31692348	31692348	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:31692348A>T	ENST00000319386.3	+	14	3589	c.2596A>T	c.(2596-2598)Agg>Tgg	p.R866W	CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.R1014W|CCDC129_ENST00000409210.1_Missense_Mutation_p.R922W			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1014										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAACAGCACCAGGATGTCTCC	0.537000													29	50					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450295	155450295	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:155450295G>T	ENST00000368346.3	-	3	3005	c.2366C>A	c.(2365-2367)tCt>tAt	p.S789Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.S789Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	789					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAGAGCAAGAGATGGAGCTGT	0.418000													70	229					4.79706e-38	8.83807e-38	1	1	0
COL13A1	1305	broad.mit.edu	37	10	71677069	71677069	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:71677069C>T	ENST00000356340.3	+	17	1512	c.976C>T	c.(976-978)Cca>Tca	p.P326S	COL13A1_ENST00000398966.3_Missense_Mutation_p.P304S|COL13A1_ENST00000398971.3_Missense_Mutation_p.P326S|COL13A1_ENST00000398964.3_Missense_Mutation_p.P297S|COL13A1_ENST00000520267.1_Missense_Mutation_p.P269S|COL13A1_ENST00000398973.3_Missense_Mutation_p.P326S|COL13A1_ENST00000398972.3_Missense_Mutation_p.P326S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P307S|COL13A1_ENST00000398969.3_Missense_Mutation_p.P269S|COL13A1_ENST00000398974.3_Missense_Mutation_p.P314S|COL13A1_ENST00000357811.3_Missense_Mutation_p.P304S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P304S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P304S|COL13A1_ENST00000520133.1_Missense_Mutation_p.P275S|COL13A1_ENST00000398978.3_Missense_Mutation_p.P326S|COL13A1_ENST00000398968.3_Missense_Mutation_p.P307S			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	326	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GCCAGGGATGCCAGGCAAGCA	0.627000													14	15					0	0	1	0	0
EPCAM	4072	broad.mit.edu	37	2	47601172	47601172	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:47601172A>C	ENST00000263735.4	+	3	768	c.410A>C	c.(409-411)gAg>gCg	p.E137A	EPCAM_ENST00000405271.1_Missense_Mutation_p.E165A	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	137					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ACCTGCTCTGAGCGAGTGAGA	0.423000													6	57					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616396	92616396	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:92616396C>T	ENST00000298047.6	+	23	12791	c.12774C>T	c.(12772-12774)ggC>ggT	p.G4258G	FAT3_ENST00000409404.2_Silent_p.G4258G|FAT3_ENST00000525166.1_Silent_p.G4108G|FAT3_ENST00000533797.1_Silent_p.G593G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4258					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCTGGGAGGCGAGCACCAGG	0.682000										TCGA Ovarian(4;0.039)			37	164					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30516573	30516573	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:30516573G>T	ENST00000356798.6	+	19	2424	c.2244G>T	c.(2242-2244)aaG>aaT	p.K748N	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.K664N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	748					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)	AGCAGGGCAAGGACATACCGC	0.612000													21	21					2.54575e-18	3.87869e-18	1	1	0
ACTL9	284382	broad.mit.edu	37	19	8807904	8807904	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:8807904C>A	ENST00000324436.3	-	1	1268	c.1148G>T	c.(1147-1149)gGg>gTg	p.G383V		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	383						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GATGGAGCCCCCGATCCATAC	0.647000													28	21					5.61819e-17	8.31688e-17	1	1	0
TCF4	6925	broad.mit.edu	37	18	52921778	52921778	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:52921778C>A	ENST00000354452.3	-	15	1911	c.1300G>T	c.(1300-1302)Ggc>Tgc	p.G434C	TCF4_ENST00000356073.4_Missense_Mutation_p.G434C|TCF4_ENST00000565018.2_Missense_Mutation_p.G434C|TCF4_ENST00000564999.1_Missense_Mutation_p.G434C|TCF4_ENST00000564228.1_Missense_Mutation_p.G363C|TCF4_ENST00000537578.1_Missense_Mutation_p.G410C|TCF4_ENST00000566279.1_Missense_Mutation_p.G374C|TCF4_ENST00000543082.1_Missense_Mutation_p.G392C|TCF4_ENST00000568740.1_Missense_Mutation_p.G409C|TCF4_ENST00000561831.3_Missense_Mutation_p.G274C|TCF4_ENST00000570177.2_Missense_Mutation_p.G304C|TCF4_ENST00000544241.2_Missense_Mutation_p.G363C|TCF4_ENST00000566286.1_Missense_Mutation_p.G431C|TCF4_ENST00000540999.1_Missense_Mutation_p.G410C|TCF4_ENST00000398339.1_Missense_Mutation_p.G536C|TCF4_ENST00000570287.2_Missense_Mutation_p.G274C|TCF4_ENST00000568673.1_Missense_Mutation_p.G410C|TCF4_ENST00000457482.3_Missense_Mutation_p.G274C|TCF4_ENST00000564403.2_Missense_Mutation_p.G440C|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561992.1_Missense_Mutation_p.G304C|TCF4_ENST00000567880.1_Missense_Mutation_p.G374C|TCF4_ENST00000537856.3_Missense_Mutation_p.G304C	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	434					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA 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 RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TACCCTGAGCCCAGACCACCC	0.473000													14	11					1.49906e-05	1.66344e-05	1	1	0
UBASH3A	53347	broad.mit.edu	37	21	43863428	43863428	+	Silent	SNP	G	G	T	rs147514329	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr21:43863428G>T	ENST00000319294.6	+	13	1669	c.1638G>T	c.(1636-1638)gcG>gcT	p.A546A	UBASH3A_ENST00000291535.6_Silent_p.A508A|UBASH3A_ENST00000398367.1_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	546	Phosphatase-like.					cytosol|nucleus		p.A546A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCAGGCCCGCGTTTCCCCTGT	0.592000													7	11					5.18039e-06	5.89313e-06	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140880889	140880889	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:140880889G>T	ENST00000371372.1	+	14	1939	c.1794G>T	c.(1792-1794)ctG>ctT	p.L598L	CACNA1B_ENST00000371355.4_Silent_p.L599L|CACNA1B_ENST00000371363.1_Silent_p.L598L|CACNA1B_ENST00000371357.1_Silent_p.L599L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L598L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	598					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGCGGAACCTGGTGGTGTCCC	0.582000													5	6					0.0215528	0.0221071	1	1	0
CPLX1	10815	broad.mit.edu	37	4	780377	780377	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:780377C>A	ENST00000304062.6	-	4	548	c.317G>T	c.(316-318)gGg>gTg	p.G106V	CPLX1_ENST00000505203.1_Missense_Mutation_p.G85V	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	106					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		CACCTCGTCCCCGCAGCCCGG	0.682000													10	10					9.70103e-10	1.22255e-09	1	1	0
PRKCE	5581	broad.mit.edu	37	2	46228649	46228649	+	Silent	SNP	A	A	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:46228649A>C	ENST00000306156.3	+	7	1257	c.930A>C	c.(928-930)ccA>ccC	p.P310P	PRKCE_ENST00000394874.1_Silent_p.P33P	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	310					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCGTTACCCCAGACAAAATCA	0.527000													11	41					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522777	23522777	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:23522777C>A	ENST00000296682.3	+	8	847	c.665C>A	c.(664-666)cCt>cAt	p.P222H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	222					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CATGGGCCCCCTACATTTGTA	0.532000										HNSCC(3;0.000094)			45	31					2.00842e-17	2.99277e-17	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167096414	167096414	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:167096414G>A	ENST00000361200.2	+	6	2212	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.Q682Q|DUSP27_ENST00000443333.1_Silent_p.Q682Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	682					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						TGAGCACCCAGAGCCACCGCT	0.637000													28	34					0	0	1	0	0
KLK9	284366	broad.mit.edu	37	19	51512839	51512839	+	RNA	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:51512839G>T	ENST00000594512.1	+	0	429																											ACGTGCACCCGGCGTCCAGTG	0.617000													5	0					1.23904e-05	1.38625e-05	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7662730	7662730	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:7662730G>T	ENST00000299492.4	+	16	1784	c.1396G>T	c.(1396-1398)Gac>Tac	p.D466Y	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.D354Y|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.D323Y|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.D308Y	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	466					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAGTGGCTGGGACGACACTGC	0.532000													37	32					8.20599e-20	1.29087e-19	1	1	0
CENPT	80152	broad.mit.edu	37	16	67865182	67865182	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:67865182G>A	ENST00000562787.1	-	10	1188	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	CENPT_ENST00000440851.2_Missense_Mutation_p.R214C|CENPT_ENST00000564817.1_Missense_Mutation_p.R214C|CENPT_ENST00000445712.2_Missense_Mutation_p.R111C|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.R214C	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	214					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		ACAGCTCGGCGGGCTGGAGGT	0.602000													36	77					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788638	117788638	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:117788638T>C	ENST00000276204.6	+	43	4843	c.4769T>C	c.(4768-4770)aTg>aCg	p.M1590T	DOCK11_ENST00000276202.7_Missense_Mutation_p.M1590T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1590	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACTGCCCAAATGAAGGAGCAT	0.448000													43	17					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924888	55924888	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:55924888C>G	ENST00000244728.5	-	28	2933	c.2536G>C	c.(2536-2538)Ggt>Cgt	p.G846R	COL21A1_ENST00000370819.1_Missense_Mutation_p.G843R|COL21A1_ENST00000370808.2_Missense_Mutation_p.G212R|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Missense_Mutation_p.G846R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	846	Collagen-like 6.				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)			CCTGGCAAACCAGGTAATCCT	0.502000													56	36					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82874805	82874805	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:82874805G>T	ENST00000298281.4	+	3	855	c.403G>T	c.(403-405)Gat>Tat	p.D135Y		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	135	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTATGCCCTGGATGTCAGAGT	0.358000													10	21					7.48243e-07	8.71664e-07	1	1	0
OR8K3	219473	broad.mit.edu	37	11	56085802	56085802	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:56085802C>T	ENST00000312711.1	+	1	20	c.20C>T	c.(19-21)aCa>aTa	p.T7I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CACAATCTAACAACGGTGAAT	0.398000													57	109					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44844696	44844696	+	Splice_Site	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:44844696T>C	ENST00000354340.4	-	2	49		c.e2-2		ZNF112_ENST00000337401.4_Splice_Site|ZNF112_ENST00000536500.1_Splice_Site|CTC-512J12.6_ENST00000588212.1_Intron	NM_013380.3	NP_037512.3			zinc finger protein 112																		CACCATCTCCTACAATGCCAA	0.507000													64	32					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594078	123594078	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:123594078C>A	ENST00000340011.5	+	3	811	c.454C>A	c.(454-456)Ccc>Acc	p.P152T	SPAM1_ENST00000460182.1_Missense_Mutation_p.P152T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P152T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P152T|SPAM1_ENST00000223028.7_Missense_Mutation_p.P152T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	152					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGAATGGAGACCCACTTGGGC	0.393000													20	119					7.41877e-09	9.09571e-09	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64415347	64415347	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:64415347C>A	ENST00000395251.1	+	4	681	c.347C>A	c.(346-348)tCc>tAc	p.S116Y	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	116										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)					TGTGGTCTCTCCGAGCTCATC	0.502000													9	65					3.09899e-07	3.66047e-07	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21929359	21929359	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:21929359C>A	ENST00000542643.2	-	21	1856	c.1554G>T	c.(1552-1554)ccG>ccT	p.P518P	RAP1GAP_ENST00000290101.4_Silent_p.P556P|RAP1GAP_ENST00000374761.2_Silent_p.P523P|RAP1GAP_ENST00000374763.2_Silent_p.P577P|RAP1GAP_ENST00000374765.4_Silent_p.P492P	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	492					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGAGCCGAACGGGCCCGACT	0.642000													16	34					2.32078e-09	2.89778e-09	1	1	0
SIRPB1	10326	broad.mit.edu	37	20	1552431	1552431	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:1552431A>G	ENST00000381605.4	-	3	750	c.686T>C	c.(685-687)aTa>aCa	p.I229T	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	229	Ig-like C1-type 1.		I -> M (in dbSNP:rs2253427).		cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GATGTGGGCTATCTCGCAGAT	0.607000													57	32					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48771464	48771464	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:48771464C>T	ENST00000314191.2	-	48	6344	c.6288G>A	c.(6286-6288)ctG>ctA	p.L2096L	PRKDC_ENST00000338368.3_Silent_p.L2096L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2097					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGGGCCGTCAGGGGCGCCA	0.577000								Non-homologous end-joining					122	78					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25075913	25075913	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:25075913G>T	ENST00000381989.3	-	3	297	c.192C>A	c.(190-192)atC>atA	p.I64I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	64	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTTCTTTTGGATAGAATTCA	0.343000													4	72					1	1	1	1	0
RBM44	375316	broad.mit.edu	37	2	238725767	238725767	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:238725767A>T	ENST00000316997.4	+	3	340	c.208A>T	c.(208-210)Agc>Tgc	p.S70C	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.S70C	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	69							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TAAAGAAATCAGCAATATTGA	0.348000													36	14					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141497148	141497148	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:141497148G>T	ENST00000264952.2	+	1	159	c.22G>T	c.(22-24)Gac>Tac	p.D8Y		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	8					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGGGCCCTGGACAACCTGAT	0.687000													37	21					1.62957e-23	2.73478e-23	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75797413	75797413	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:75797413C>A	ENST00000322507.8	-	65	9370	c.9061G>T	c.(9061-9063)Ggt>Tgt	p.G3021C	COL12A1_ENST00000483888.2_Missense_Mutation_p.G3017C|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2945C|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1857C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3021	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGGGGGACCTCTTGAACCT	0.527000													24	32					5.45727e-16	7.88919e-16	1	1	0
CPED1	79974	broad.mit.edu	37	7	120764465	120764465	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:120764465A>T	ENST00000310396.5	+	8	1466	c.999A>T	c.(997-999)aaA>aaT	p.K333N	CPED1_ENST00000423795.1_Missense_Mutation_p.K113N|CPED1_ENST00000450913.2_Missense_Mutation_p.K333N	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CAATTGGCAAACTACTGCTAG	0.363000													5	72					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609288	609288	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:609288G>A	ENST00000264555.5	+	14	3960	c.3832G>A	c.(3832-3834)Gcc>Acc	p.A1278T	PHRF1_ENST00000413872.2_Missense_Mutation_p.A1276T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A1274T|PHRF1_ENST00000416188.2_Missense_Mutation_p.A1277T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1278							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCAAGCGACGCCGTTTTCAT	0.597000													34	15					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4935982	4935982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:4935982G>T	ENST00000328908.5	+	5	1218	c.1087G>T	c.(1087-1089)Gag>Tag	p.E363*	CDYL_ENST00000343762.5_Nonsense_Mutation_p.E177*|CDYL_ENST00000397588.3_Nonsense_Mutation_p.E309*|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Nonsense_Mutation_p.E177*			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	363					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AAAGTCCTCAGAGAATAACTC	0.527000													14	127					4.3838e-07	5.15116e-07	1	1	0
OR2M5	127059	broad.mit.edu	37	1	248309308	248309308	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248309308C>A	ENST00000366476.1	+	1	859	c.859C>A	c.(859-861)Ccc>Acc	p.P287T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGCTGAATCCCCTCATCTA	0.498000													45	132					1.48734e-19	2.3289e-19	1	1	0
CHD7	55636	broad.mit.edu	37	8	61777824	61777824	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:61777824C>T	ENST00000423902.2	+	38	8805	c.8326C>T	c.(8326-8328)Cct>Tct	p.P2776S	CHD7_ENST00000524602.1_Missense_Mutation_p.P727S	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2776					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATGGGCTTCCCTCCAGGACT	0.622000													11	21					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113139630	113139630	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:113139630T>C	ENST00000401783.2	-	45	10761	c.10425A>G	c.(10423-10425)ccA>ccG	p.P3475P	SVEP1_ENST00000297826.5_Silent_p.P1401P|SVEP1_ENST00000374469.1_Silent_p.P3452P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3475					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						CATTCTGACATGGAAATCGAC	0.483000													7	21					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49359939	49359939	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:49359939C>A	ENST00000301061.4	-	5	1457	c.1109G>T	c.(1108-1110)tGg>tTg	p.W370L	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	370					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						ATAGCAGCACCAGTGGAAGCG	0.592000													24	11					3.28513e-13	4.40181e-13	1	1	0
FN1	2335	broad.mit.edu	37	2	216285401	216285401	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:216285401G>T	ENST00000354785.4	-	11	2039	c.1670C>A	c.(1669-1671)cCc>cAc	p.P557H	FN1_ENST00000357009.2_Missense_Mutation_p.P557H|FN1_ENST00000421182.1_Missense_Mutation_p.P557H|FN1_ENST00000446046.1_Missense_Mutation_p.P557H|FN1_ENST00000432072.2_Missense_Mutation_p.P557H|FN1_ENST00000345488.5_Missense_Mutation_p.P557H|FN1_ENST00000443816.1_Missense_Mutation_p.P557H|FN1_ENST00000359671.1_Missense_Mutation_p.P557H|FN1_ENST00000357867.4_Missense_Mutation_p.P557H|FN1_ENST00000356005.4_Missense_Mutation_p.P557H|FN1_ENST00000346544.3_Missense_Mutation_p.P557H|FN1_ENST00000336916.4_Missense_Mutation_p.P557H|FN1_ENST00000323926.6_Missense_Mutation_p.P557H|FN1_ENST00000426059.1_Missense_Mutation_p.P557H			P02751	FINC_HUMAN	fibronectin 1	557	Collagen-binding.|Fibronectin type-I 8.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCACCGACGGGATCACACTT	0.478000													28	33					1.30897e-18	2.01243e-18	1	1	0
CNTN4	152330	broad.mit.edu	37	3	2942504	2942504	+	Splice_Site	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:2942504G>T	ENST00000397461.1	+	10	1460	c.1077_splice	c.e10+1	p.R359_splice	CNTN4_ENST00000418658.1_Splice_Site_p.R359_splice|CNTN4_ENST00000397459.2_Splice_Site_p.R31_splice|CNTN4_ENST00000358480.3_Splice_Site_p.R140_splice|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Splice_Site_p.R31_splice|CNTN4_ENST00000427331.1_Splice_Site_p.R359_splice	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	359	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.R359Q(1)|p.R31Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTGCTAACTCGGGTAAGCAAG	0.408000													48	22					1.89013e-27	3.28591e-27	1	1	0
FPR2	2358	broad.mit.edu	37	19	52272733	52272733	+	Nonsense_Mutation	SNP	T	T	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:52272733T>G	ENST00000598776.1	+	2	1594	c.822T>G	c.(820-822)taT>taG	p.Y274*	FPR2_ENST00000598953.1_Nonsense_Mutation_p.Y274*|FPR2_ENST00000340023.6_Nonsense_Mutation_p.Y274*	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	274					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGTTGTTCTATGGCAAGTACA	0.507000													20	35					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8713909	8713909	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:8713909G>T	ENST00000378641.3	+	19	2388	c.1913G>T	c.(1912-1914)gGg>gTg	p.G638V	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G638V|PLCB1_ENST00000378637.2_Missense_Mutation_p.G638V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	638	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATAAATATGGGGATGTATGAA	0.388000													63	34					1.88225e-35	3.43056e-35	1	1	0
LARP4B	23185	broad.mit.edu	37	10	909761	909761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:909761C>A	ENST00000316157.3	-	4	392	c.352G>T	c.(352-354)Gag>Tag	p.E118*		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	118							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGGTCCGACTCCTGCGGGTCT	0.517000													39	38					3.33393e-15	4.71901e-15	1	1	0
FNDC7	163479	broad.mit.edu	37	1	109268628	109268628	+	Splice_Site	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:109268628T>A	ENST00000370017.3	+	6	1388		c.e6+2		FNDC7_ENST00000271311.2_Splice_Site	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7							extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		ATACCACAGGTAAGTCCCATT	0.398000													84	71					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107015521	107015521	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:107015521G>T	ENST00000369701.3	+	24	3526	c.3299G>T	c.(3298-3300)gGg>gTg	p.G1100V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1100						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGAAGCCGGGGGTACAAGTC	0.448000													33	31					5.8336e-16	8.37962e-16	1	1	0
BAI2	576	broad.mit.edu	37	1	32206126	32206126	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:32206126G>T	ENST00000373658.3	-	12	2152	c.1811C>A	c.(1810-1812)gCc>gAc	p.A604D	BAI2_ENST00000440175.2_Missense_Mutation_p.A246D|BAI2_ENST00000398538.1_Missense_Mutation_p.A592D|BAI2_ENST00000398542.1_Missense_Mutation_p.A537D|BAI2_ENST00000527361.1_Missense_Mutation_p.A604D|BAI2_ENST00000398547.1_Missense_Mutation_p.A537D|BAI2_ENST00000373655.2_Missense_Mutation_p.A604D|BAI2_ENST00000257070.4_Missense_Mutation_p.A604D|BAI2_ENST00000398556.3_Missense_Mutation_p.A552D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	604					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)		CTGCCCCTTGGCCAGGTGCTC	0.647000													4	15					0.000602214	0.000633025	1	1	0
CLCN7	1186	broad.mit.edu	37	16	1509178	1509178	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:1509178G>A	ENST00000382745.4	-	7	1210	c.605C>T	c.(604-606)gCt>gTt	p.A202V	CLCN7_ENST00000448525.1_Missense_Mutation_p.A178V|CLCN7_ENST00000262318.8_Missense_Mutation_p.A178V	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	202						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCCGCTGCCAGCAGCCACCGG	0.667000													14	17					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104324194	104324194	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:104324194G>A	ENST00000389120.3	+	19	2742	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	884					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGCCACAGGAGGACATCTCTA	0.413000													57	70					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263529	144263529	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:144263529G>T	ENST00000360537.2	-	5	2337	c.424C>A	c.(424-426)Cat>Aat	p.H142N	PLAGL1_ENST00000429150.1_Missense_Mutation_p.H142N|PLAGL1_ENST00000367571.1_Missense_Mutation_p.H142N|PLAGL1_ENST00000392307.1_Missense_Mutation_p.H90N|PLAGL1_ENST00000392309.1_Missense_Mutation_p.H142N|PLAGL1_ENST00000444202.1_Missense_Mutation_p.H142N|PLAGL1_ENST00000354765.2_Missense_Mutation_p.H142N|PLAGL1_ENST00000437412.1_Missense_Mutation_p.H90N|PLAGL1_ENST00000367572.1_Missense_Mutation_p.H90N|PLAGL1_ENST00000416623.1_Missense_Mutation_p.H142N			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	142					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TCTTCCGCATGGGCTTTGAGG	0.617000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					5.18039e-06	5.89313e-06	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111155735	111155735	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:111155735C>A	ENST00000262839.2	-	3	1602	c.684G>T	c.(682-684)aaG>aaT	p.K228N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	228					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGCTGAGCTCCTTGAGCTCCC	0.552000													94	40					6.44939e-38	1.18501e-37	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40036999	40036999	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:40036999G>T	ENST00000336649.4	+	8	868	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	CACNA1I_ENST00000407673.1_Missense_Mutation_p.G290C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G290C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G290C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G290C|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G290C			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	290					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAAGGAGCAGGGCCGTGAGTG	0.612000													12	25					2.27111e-07	2.70143e-07	1	1	0
TMEM19	55266	broad.mit.edu	37	12	72094754	72094754	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:72094754G>T	ENST00000266673.5	+	6	1584	c.990G>T	c.(988-990)tgG>tgT	p.W330C		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	330						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTGCTTGGGGTTTTTGGC	0.423000													105	51					3.24833e-45	6.13473e-45	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11574578	11574578	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:11574578G>T	ENST00000294484.6	+	4	1586	c.1448G>T	c.(1447-1449)tGc>tTc	p.C483F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C483F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	483	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCACCTCCTGCTCAGGTAGG	0.567000													26	46					2.79863e-10	3.58014e-10	1	1	0
EYA4	2070	broad.mit.edu	37	6	133836515	133836515	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:133836515G>T	ENST00000367895.5	+	17	2022	c.1558G>T	c.(1558-1560)Ggt>Tgt	p.G520C	EYA4_ENST00000430974.2_Missense_Mutation_p.G472C|EYA4_ENST00000525849.1_Missense_Mutation_p.G497C|EYA4_ENST00000531901.1_Missense_Mutation_p.G526C|EYA4_ENST00000355286.6_Missense_Mutation_p.G497C|EYA4_ENST00000355167.3_Missense_Mutation_p.G520C|EYA4_ENST00000452339.2_Missense_Mutation_p.G466C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.G520C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	520					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)		AGAGATTGAAGGTCTGACAGA	0.428000													40	65					1.57019e-19	2.45298e-19	1	1	0
ABCD2	225	broad.mit.edu	37	12	40012821	40012821	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:40012821C>A	ENST00000308666.3	-	1	732	c.597G>T	c.(595-597)atG>atT	p.M199I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	199	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.M199I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GCCTCCCATCCATATTGATCA	0.418000													36	66					4.65686e-17	6.90887e-17	1	1	0
RYK	6259	broad.mit.edu	37	3	133894458	133894458	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:133894458C>A	ENST00000427044.2	-	14	1613	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	RYK_ENST00000296084.4_Missense_Mutation_p.D525Y			P34925	RYK_HUMAN	receptor-like tyrosine kinase	521	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CTTACCACATCACTAGCGCTA	0.408000													20	143					7.41877e-09	9.09571e-09	1	1	0
PTPN12	5782	broad.mit.edu	37	7	77212894	77212894	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:77212894A>T	ENST00000415482.2	+	0	281				PTPN12_ENST00000248594.6_Missense_Mutation_p.Y103F|PTPN12_ENST00000435495.2_Intron	NM_001131008.1	NP_001124480.1	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12							soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CCAAAAGCATATGTAGCAACT	0.299000													15	62					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27856365	27856365	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:27856365C>T	ENST00000380898.2	-	4	652	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	GSG1L_ENST00000447459.2_Missense_Mutation_p.A190T|GSG1L_ENST00000395724.3_Missense_Mutation_p.A139T|GSG1L_ENST00000569166.1_Missense_Mutation_p.A35T|GSG1L_ENST00000380897.3_Missense_Mutation_p.A35T			Q6UXU4	GSG1L_HUMAN	GSG1-like	190						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						ATCATGTGGGCGACCATTCCC	0.602000													3	13					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476983	75476983	+	RNA	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:75476983T>A	ENST00000459803.1	-	0	455					NR_024241.1																						GAGGGTGGCATCCCATGTGAC	0.607000													22	9					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38483403	38483403	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:38483403A>T	ENST00000373014.4	+	3	250	c.189A>T	c.(187-189)ccA>ccT	p.P63P	UTP11L_ENST00000537711.1_Silent_p.P63P|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	63					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAAAAAATCCAGATGAATTCT	0.403000													18	33					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426906	116426906	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:116426906C>A	ENST00000395715.3	-	7	3807	c.3230G>T	c.(3229-3231)aGa>aTa	p.R1077I	TRPS1_ENST00000519076.1_Missense_Mutation_p.R818I|TRPS1_ENST00000520276.1_Missense_Mutation_p.R1068I|TRPS1_ENST00000220888.5_Missense_Mutation_p.R1064I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1064	Mediates interaction with RNF4 (By similarity).				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)			AGGACTGCCTCTCTCAGAACT	0.433000									Langer-Giedion syndrome				40	145					9.14704e-12	1.19955e-11	1	1	0
PIK3R6	146850	broad.mit.edu	37	17	8722493	8722493	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:8722493G>T	ENST00000311434.9	-	19	2139	c.1900C>A	c.(1900-1902)Ctg>Atg	p.L634M	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	635					platelet activation	cytosol											GCAGCAGGCAGGGGGCAATGG	0.512000													3	4					1	1	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48593467	48593467	+	Silent	SNP	G	G	T	rs145097078		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:48593467G>T	ENST00000342988.3	+	10	1756	c.1218G>T	c.(1216-1218)gcG>gcT	p.A406A	SMAD4_ENST00000398417.2_Silent_p.A406A|SMAD4_ENST00000588745.1_Silent_p.A310A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	406	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTGACCACGCGGTCTTTGTAC	0.433000													25	21					2.79863e-10	3.58014e-10	1	1	0
GABRD	2563	broad.mit.edu	37	1	1961521	1961521	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:1961521C>A	ENST00000378585.4	+	9	1242	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	387						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCCGGGGAACCTGATGGGCTC	0.697000													14	24					0.000151284	0.00016307	1	1	0
TGFB2	7042	broad.mit.edu	37	1	218578521	218578521	+	Silent	SNP	G	G	T	rs138514914		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:218578521G>T	ENST00000366929.4	+	3	908	c.441G>T	c.(439-441)ccG>ccT	p.P147P	TGFB2_ENST00000366930.4_Silent_p.P119P	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	119					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ATGCCATCCCGCCCACTTTCT	0.403000													65	308					5.62145e-24	9.45742e-24	1	1	0
POLD2	5425	broad.mit.edu	37	7	44154405	44154405	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:44154405T>A	ENST00000406581.2	-	12	2038	c.1389A>T	c.(1387-1389)ggA>ggT	p.G463G	POLD2_ENST00000452185.1_Silent_p.G463G|POLD2_ENST00000223361.3_Silent_p.G449G	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	463					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCCCCAGGCCTCCCAGGTCAT	0.602000													13	28					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57085327	57085327	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:57085327G>A	ENST00000532437.1	-	3	1074	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	TNKS1BP1_ENST00000358252.3_Silent_p.L255L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	255	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCTTAGCCAGGTCCCCGTTG	0.502000													3	33					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061947	40061947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:40061947C>A	ENST00000336649.4	+	26	4058	c.4058C>A	c.(4057-4059)tCg>tAg	p.S1353*	CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.S1312*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.S1312*|CACNA1I_ENST00000402142.3_Nonsense_Mutation_p.S1347*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.S1347*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.S1312*			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1347					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCAACCGCTCGGACTGCATG	0.597000													35	24					1.62565e-12	2.15271e-12	1	1	0
SERPINE1	5054	broad.mit.edu	37	7	100771710	100771710	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:100771710G>A	ENST00000223095.4	+	2	193	c.36G>A	c.(34-36)ctG>ctA	p.L12L	SERPINE1_ENST00000445463.2_Silent_p.L12L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	12					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCCTAGTCCTGGGCCTGGCCC	0.607000													20	27					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17349903	17349903	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:17349903C>A	ENST00000262545.2	+	5	839	c.524C>A	c.(523-525)cCg>cAg	p.P175Q	PCSK2_ENST00000536609.1_Missense_Mutation_p.P140Q|PCSK2_ENST00000377899.1_Missense_Mutation_p.P156Q	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	175	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATCTCCACCCGGACCTGGCC	0.478000													22	11					2.98393e-07	3.54309e-07	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20623085	20623085	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:20623085G>C	ENST00000525748.1	+	2	687	c.414G>C	c.(412-414)aaG>aaC	p.K138N		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	138					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGTGGGCAAGGGCACCCTGG	0.667000													12	8					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32718708	32718708	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:32718708G>T	ENST00000421745.2	+	45	8576	c.8442G>T	c.(8440-8442)aaG>aaT	p.K2814N		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2814					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTTGCTCAAGCTAATTCATA	0.313000													9	44					1.12685e-05	1.26701e-05	1	1	0
C16orf91	283951	broad.mit.edu	37	16	1470335	1470335	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:1470335C>A	ENST00000310355.1	-	4	781	c.782G>T	c.(781-783)tGg>tTg	p.W261L	C16orf91_ENST00000442039.2_Missense_Mutation_p.W104L|C16orf91_ENST00000563974.1_Missense_Mutation_p.W37L			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	104						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CTGTCTCAACCACTGGTCCGC	0.637000													39	90					6.19805e-25	1.05851e-24	1	1	0
TEX14	56155	broad.mit.edu	37	17	56699148	56699148	+	Splice_Site	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:56699148C>G	ENST00000389934.3	-	5	535		c.e5-1		TEX14_ENST00000349033.5_Splice_Site|TEX14_ENST00000240361.8_Splice_Site	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14							cytoplasm	ATP binding|protein kinase activity	p.?(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTCCACTATCTGCAAAACAT	0.557000													42	17					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84291979	84291979	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:84291979G>T	ENST00000428679.2	-	23	2704	c.2111C>A	c.(2110-2112)aCg>aAg	p.T704K	SNAP91_ENST00000439399.2_Missense_Mutation_p.T704K|SNAP91_ENST00000437520.1_Missense_Mutation_p.T397K|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674K|SNAP91_ENST00000369694.2_Missense_Mutation_p.T704K|SNAP91_ENST00000521485.1_Missense_Mutation_p.T704K|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704K|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397K|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704K			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	704					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTGAAGGCGTTGTCCCAAA	0.468000													10	47					3.86212e-05	4.24395e-05	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766224	57766224	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:57766224C>A	ENST00000371030.2	+	1	150	c.150C>A	c.(148-150)ccC>ccA	p.P50P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	50	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCTGGCCCCCCCCACTGTGT	0.721000													21	29					1.87028e-06	2.16022e-06	1	1	0
ACSF3	197322	broad.mit.edu	37	16	89211809	89211809	+	Splice_Site	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:89211809G>T	ENST00000317447.4	+	9	1878	c.1501_splice	c.e9+1	p.D501_splice	ACSF3_ENST00000378345.4_Splice_Site_p.D236_splice|ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000406948.3_Splice_Site_p.D501_splice	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	501					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CAGCATCACAGGTGCGTGGCC	0.627000													18	11					3.99206e-14	5.51245e-14	1	1	0
XKR7	343702	broad.mit.edu	37	20	30584902	30584902	+	Missense_Mutation	SNP	C	C	A	rs112193203		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:30584902C>A	ENST00000217299.3	+	3	1556	c.1382C>A	c.(1381-1383)cCc>cAc	p.P461H		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	461						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCTCAGAGCCCTGTGGCCCA	0.642000													24	53					1.37878e-21	2.22046e-21	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248637141	248637141	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248637141C>T	ENST00000359594.2	+	1	515	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTTTGTTGCTCACCCCCAT	0.522000													8	72					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23512138	23512138	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:23512138A>T	ENST00000408907.2	+	1	763	c.704A>T	c.(703-705)cAt>cTt	p.H235L		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	235					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GGATGGGAGCATGTGTCACGC	0.632000													27	10					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75861583	75861583	+	Splice_Site	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:75861583C>G	ENST00000322507.8	-	20	4309	c.4000_splice	c.e20+1	p.G1334_splice	COL12A1_ENST00000483888.2_Splice_Site_p.G1334_splice|COL12A1_ENST00000416123.2_Splice_Site_p.G1334_splice|COL12A1_ENST00000345356.6_Splice_Site_p.G170_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1334	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTGCGTACCAATAGCAAAC	0.408000													19	97					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160237618	160237618	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:160237618C>T	ENST00000275275.5	+	14	1242	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	PNLDC1_ENST00000392167.3_Silent_p.L368L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	357						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATGCCTTCCTCTGTGGGTCAG	0.478000													8	46					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647590	130647590	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:130647590C>A	ENST00000539839.1	+	1	587	c.5C>A	c.(4-6)cCa>cAa	p.P2Q	FZD10_ENST00000229030.4_Missense_Mutation_p.Q35K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGGCAAATGCCAGCCCATCGA	0.657000													13	6					2.27111e-07	2.70143e-07	1	1	0
HDGFRP2	84717	broad.mit.edu	37	19	4499523	4499523	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:4499523G>C	ENST00000301284.4	+	14	1675	c.1611G>C	c.(1609-1611)gaG>gaC	p.E537D	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E537D	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		537					transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E537E(1)									ACGTAATGGAGAAGGCAGCAG	0.592000													10	5					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10149566	10149566	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:10149566C>A	ENST00000428126.2	-	5	487	c.218G>T	c.(217-219)tGg>tTg	p.W73L	CLEC1B_ENST00000298527.6_Missense_Mutation_p.W106L|CLEC1B_ENST00000348658.4_Missense_Mutation_p.W73L			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	106					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ATAATATCTCCAGTTTGTGTC	0.418000													57	31					9.10829e-22	1.47385e-21	1	1	0
FCGRT	2217	broad.mit.edu	37	19	50017363	50017363	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:50017363G>A	ENST00000221466.5	+	3	784	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	FCGRT_ENST00000426395.3_Missense_Mutation_p.E100K|FCGRT_ENST00000596975.1_Missense_Mutation_p.E100K|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	100	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GCTCTTTCTGGAAGCTTTCAA	0.592000													12	23					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12867040	12867040	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:12867040C>A	ENST00000549706.1	+	9	1358	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	BEST2_ENST00000042931.1_Missense_Mutation_p.A345D|BEST2_ENST00000553030.1_Missense_Mutation_p.A345D			Q8NFU1	BEST2_HUMAN	bestrophin 2	345					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGGCTCGCGCCCCATACACA	0.612000													46	93					1.47857e-17	2.21296e-17	1	1	0
CALCA	796	broad.mit.edu	37	11	14989257	14989257	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:14989257C>A	ENST00000361010.3	-	4	445	c.371G>T	c.(370-372)aGg>aTg	p.R124M	CALCA_ENST00000486207.1_Missense_Mutation_p.R124M|CALCB_ENST00000523376.1_Intron	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	124					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	TTGAAGGTCCCTGCGGCGCCT	0.532000													23	18					8.04996e-18	1.21017e-17	1	1	0
REN	5972	broad.mit.edu	37	1	204135377	204135377	+	Silent	SNP	C	C	A	rs142739309		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:204135377C>A	ENST00000367195.2	-	1	88	c.45G>T	c.(43-45)ctG>ctT	p.L15L	REN_ENST00000272190.8_Silent_p.L15L			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGCCCCAGAGCAGCAGCAGCA	0.577000													32	31					1.61788e-16	2.36916e-16	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186147884	186147884	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:186147884A>C	ENST00000271588.4	+	104	16509	c.16280A>C	c.(16279-16281)cAt>cCt	p.H5427P	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5427					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						GAGGCAAGCCATGACACATGT	0.443000													16	126					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195263	59195263	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:59195263G>A	ENST00000262717.4	+	7	1479	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	CDH20_ENST00000536675.2_Missense_Mutation_p.E361K|CDH20_ENST00000538374.1_Missense_Mutation_p.E361K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	361	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCCTCACCTAGAGATGCGTTT	0.478000													43	27					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233351040	233351040	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:233351040G>T	ENST00000304546.1	-	2	534	c.324C>A	c.(322-324)gcC>gcA	p.A108A	ECEL1_ENST00000409941.1_Silent_p.A108A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	108					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAAGCGAGCGGCGCGCGCGA	0.731000													7	3					2.0095e-06	2.31707e-06	1	1	0
SPOPL	339745	broad.mit.edu	37	2	139316870	139316870	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:139316870A>G	ENST00000280098.4	+	7	1056	c.677A>G	c.(676-678)aAc>aGc	p.N226S		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	226	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCAGTTTTTAACGCCATGTTT	0.294000													10	47					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19027164	19027164	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:19027164C>T	ENST00000420770.2	+	6	887	c.804C>T	c.(802-804)cgC>cgT	p.R268R	PAX7_ENST00000375375.3_Silent_p.R268R|PAX7_ENST00000400661.3_Silent_p.R266R	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	268					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TCAGTAACCGCCGCGCCCGTT	0.647000			T	FOXO1A	alveolar rhabdomyosarcoma								17	71					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51484223	51484223	+	Missense_Mutation	SNP	G	G	C	rs144193508	by1000genomes	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:51484223G>C	ENST00000371117.3	-	67	12156	c.11881C>G	c.(11881-11883)Cga>Gga	p.R3961G	RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3961					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)					TCTTCCTCTCGGACAATGTGG	0.557000													31	162					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963197	73963197	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:73963197C>G	ENST00000373468.1	-	3	1846	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D399H			Q5QGS0	K2022_HUMAN	KIAA2022	399					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCTTTCCATCTTTCTTCTCT	0.443000													84	43					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16237423	16237423	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:16237423C>T	ENST00000339732.5	+	2	1199	c.696C>T	c.(694-696)ctC>ctT	p.L232L	GALNT15_ENST00000437509.1_Silent_p.L232L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TGGACGACCTCAGCCAGCAAG	0.572000													25	8					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998408	27998408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:27998408G>T	ENST00000441525.1	-	1	1158	c.1044C>A	c.(1042-1044)taC>taA	p.Y348*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	348										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTGCAAATTGGTAAATATTGG	0.393000													35	19					6.84511e-11	8.83997e-11	1	1	0
TAS1R2	80834	broad.mit.edu	37	1	19175991	19175991	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:19175991G>A	ENST00000375371.3	-	4	1332	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	437					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCGGGTCGAAGAAGATTTGGT	0.577000													20	35					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128747	99128747	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:99128747T>C	ENST00000394170.2	+	7	1646	c.1395T>C	c.(1393-1395)agT>agC	p.S465S	ZKSCAN5_ENST00000451158.1_Silent_p.S465S|ZKSCAN5_ENST00000326775.5_Silent_p.S465S	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	465					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAAAAGAAGTAAGAACACAA	0.343000													45	87					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36483953	36483953	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:36483953C>T	ENST00000378867.3	+	10	1129	c.774C>T	c.(772-774)acC>acT	p.T258T	PRR5L_ENST00000311599.5_Silent_p.T185T|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Silent_p.T258T|PRR5L_ENST00000527487.1_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	258										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCCCGATAACCGCAGTCAGCC	0.602000													15	33					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879623	27879623	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:27879623G>C	ENST00000303324.2	-	1	551	c.475C>G	c.(475-477)Cag>Gag	p.Q159E		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CAGGTGGACTGTAATACTGAA	0.473000													104	46					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039866	62039866	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:62039866C>A	ENST00000354587.3	-	16	1987	c.1811G>T	c.(1810-1812)gGc>gTc	p.G604V	KCNQ2_ENST00000359125.2_Missense_Mutation_p.G596V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G592V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G565V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G578V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G604V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G568V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G596V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G566V			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	597					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GATCGCTGGGCCCCGCCCCAC	0.687000													7	6					0.00307968	0.00322226	1	1	0
PDE4D	5144	broad.mit.edu	37	5	58295355	58295355	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:58295355T>A	ENST00000317118.8	-	1	404	c.9A>T	c.(7-9)gaA>gaT	p.E3D	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000358923.6_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000405755.2_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000503258.1_Intron|PDE4D_ENST00000507116.1_Intron	NM_001197223.1	NP_001184152.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AATAGTTTGCTTCAGGCATTT	0.284000													5	23					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107927	14107927	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:14107927C>T	ENST00000235372.7	+	8	4493	c.3637C>T	c.(3637-3639)Ctc>Ttc	p.L1213F	PRDM2_ENST00000343137.4_Missense_Mutation_p.L1012F|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L1012F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1213F	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1213						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)		CCAGCGAGATCTCCACCCAGA	0.453000													10	95					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575220	19575220	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:19575220C>T	ENST00000328405.2	+	16	3219	c.2953C>T	c.(2953-2955)Ctt>Ttt	p.L985F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	985	Ser-rich.					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						AGACAGTGAACTTTATCATTC	0.463000													109	44					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31572964	31572964	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:31572964C>G	ENST00000356173.3	-	12	1017	c.925G>C	c.(925-927)Gtg>Ctg	p.V309L	SUN5_ENST00000375523.3_Missense_Mutation_p.V284L	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	309	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCCAGGAACACCTCCTCCTTG	0.577000													33	47					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432319	135432319	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:135432319A>G	ENST00000394143.1	+	6	6745	c.6454A>G	c.(6454-6456)Ata>Gta	p.I2152V	GPR112_ENST00000287534.4_Missense_Mutation_p.I2089V|GPR112_ENST00000412101.1_Missense_Mutation_p.I1947V|GPR112_ENST00000394141.1_Missense_Mutation_p.I1947V|GPR112_ENST00000370652.1_Missense_Mutation_p.I2152V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2152					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAGCTCTACAATAACATCTTC	0.428000													56	15					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140093779	140093779	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:140093779T>G	ENST00000409012.4	-	1	1471	c.1385A>C	c.(1384-1386)gAc>gCc	p.D462A	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.D401A	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	462					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CTCCTCCGAGTCTACCTCATC	0.652000													7	17					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194299	57194299	+	Splice_Site	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:57194299C>A	ENST00000331162.4	-	3	436	c.166_splice	c.e3+1	p.G56_splice		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTATCCTCACCCAGGGAGACC	0.368000													8	149					0.00448238	0.00466113	1	1	0
PRKCQ	5588	broad.mit.edu	37	10	6506320	6506320	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:6506320A>G	ENST00000263125.5	-	13	1499	c.1400T>C	c.(1399-1401)aTg>aCg	p.M467T	PRKCQ_ENST00000539722.1_Missense_Mutation_p.M342T|PRKCQ_ENST00000397176.2_Missense_Mutation_p.M467T	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	467	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GATGTGGTACATTAAGTCCCC	0.393000													48	195					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781862	3781862	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:3781862C>A	ENST00000262367.5	-	29	5614	c.4805G>T	c.(4804-4806)cGc>cTc	p.R1602L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1564L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1602	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		cttgttggcgcggctgatgct	0.537000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	82					7.48243e-07	8.71664e-07	1	1	0
SYVN1	84447	broad.mit.edu	37	11	64897831	64897831	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:64897831G>A	ENST00000526060.1	-	12	1318	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	SYVN1_ENST00000294256.8_Missense_Mutation_p.P376S|SYVN1_ENST00000307289.6_Missense_Mutation_p.P325S|SYVN1_ENST00000377190.3_Missense_Mutation_p.P376S			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	376	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGAGGAAAAGGAGGCAGGAGG	0.637000													5	13					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188192	121188192	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:121188192C>A	ENST00000321339.1	+	1	543	c.534C>A	c.(532-534)caC>caA	p.H178Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	178	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.H178H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGAATTGCACGCTCTAGCCT	0.507000													88	42					5.56898e-48	1.0666e-47	1	1	0
NR4A2	4929	broad.mit.edu	37	2	157182339	157182339	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:157182339G>T	ENST00000339562.4	-	8	2076	c.1714C>A	c.(1714-1716)Cgc>Agc	p.R572S	NR4A2_ENST00000409108.2_Missense_Mutation_p.A537E|NR4A2_ENST00000426264.1_Missense_Mutation_p.R509S|NR4A2_ENST00000429376.1_Missense_Mutation_p.A474E|NR4A2_ENST00000409572.1_Missense_Mutation_p.R572S|NR4A2_ENST00000539077.1_Missense_Mutation_p.R583S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	572					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TAGAAAATGCGCTGTAGCCCC	0.488000													53	43					9.52127e-25	1.62196e-24	1	1	0
ACCS	84680	broad.mit.edu	37	11	44105032	44105032	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:44105032A>T	ENST00000263776.8	+	14	1747	c.1313A>T	c.(1312-1314)aAc>aTc	p.N438I		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	438							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTTTTGGACAACAAGGTGCTG	0.572000													34	36					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359420	72359420	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:72359420C>A	ENST00000001146.2	-	6	1678	c.1475G>T	c.(1474-1476)gGc>gTc	p.G492V	CYP26B1_ENST00000412253.1_Missense_Mutation_p.G301V|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G417V	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	492					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGAGTCCAGGCCAAAGAACTT	0.652000													9	7					0.0477658	0.0487729	1	1	0
OR10K1	391109	broad.mit.edu	37	1	158435844	158435844	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:158435844C>T	ENST00000289451.2	+	1	573	c.493C>T	c.(493-495)Cat>Tat	p.H165Y		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTAGTATTTCATCTGCCCTT	0.547000													109	199					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255106	51255106	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:51255106C>A	ENST00000404971.1	-	2	1645	c.306G>T	c.(304-306)acG>acT	p.T102T	NRXN1_ENST00000402717.3_Silent_p.T102T|NRXN1_ENST00000406316.2_Silent_p.T102T|NRXN1_ENST00000405472.3_Silent_p.T102T|NRXN1_ENST00000405581.1_Silent_p.T102T|NRXN1_ENST00000401669.2_Silent_p.T102T|NRXN1_ENST00000406859.3_Silent_p.T102T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	102	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGCCAGGAGCGTCGCAGGCT	0.662000													5	22					1	1	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102954774	102954774	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:102954774C>T	ENST00000311734.2	+	2	389	c.50C>T	c.(49-51)gCa>gTa	p.A17V	IL1RL1_ENST00000409584.1_Missense_Mutation_p.A17V|IL1RL1_ENST00000233954.1_Missense_Mutation_p.A17V|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.A17V|IL1RL1_ENST00000404917.2_Intron			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	17					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TATTCCACAGCAGCAAAGTTT	0.308000													10	71					0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17998180	17998180	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:17998180G>T	ENST00000281047.3	+	1	418	c.395G>T	c.(394-396)aGg>aTg	p.R132M		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	132					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCAGCGAGAGGGAGAAGCTC	0.622000													17	17					3.41278e-10	4.34121e-10	1	1	0
TOX2	84969	broad.mit.edu	37	20	42635372	42635372	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:42635372C>T	ENST00000358131.5	+	3	586	c.378C>T	c.(376-378)gcC>gcT	p.A126A	TOX2_ENST00000372999.1_Silent_p.A75A|TOX2_ENST00000423191.1_Silent_p.A75A|TOX2_ENST00000341197.3_Silent_p.A117A	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCTCCCAGCCATCATGGTGT	0.632000													6	56					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179354374	179354374	+	Splice_Site	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:179354374T>A	ENST00000367618.3	+	9	1130	c.741_splice	c.e9-1	p.M248_splice	AXDND1_ENST00000457238.2_Splice_Site_p.M248_splice|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	248										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTCTGACAGATGCACAAACTA	0.328000													29	32					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32206125	32206125	+	Silent	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:32206125G>C	ENST00000373658.3	-	12	2153	c.1812C>G	c.(1810-1812)gcC>gcG	p.A604A	BAI2_ENST00000440175.2_Silent_p.A246A|BAI2_ENST00000398538.1_Silent_p.A592A|BAI2_ENST00000398542.1_Silent_p.A537A|BAI2_ENST00000527361.1_Silent_p.A604A|BAI2_ENST00000398547.1_Silent_p.A537A|BAI2_ENST00000373655.2_Silent_p.A604A|BAI2_ENST00000257070.4_Silent_p.A604A|BAI2_ENST00000398556.3_Silent_p.A552A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	604					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)		GCTGCCCCTTGGCCAGGTGCT	0.647000													4	15					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009066	120009066	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:120009066C>T	ENST00000371311.3	-	1	713	c.459G>A	c.(457-459)gtG>gtA	p.V153V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	153										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGTGGGGCCCCACCATCAGGC	0.652000													35	12					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984492	140984492	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:140984492C>A	ENST00000544766.1	+	5	581	c.54C>A	c.(52-54)aaC>aaA	p.N18K	MAGEC3_ENST00000536088.1_Missense_Mutation_p.N18K|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.N18K|MAGEC3_ENST00000298296.1_Intron	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCCAGAACCCGAGTGTGA	0.517000													9	50					0.000442599	0.000468147	1	1	0
PDS5B	23047	broad.mit.edu	37	13	33344513	33344513	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:33344513A>T	ENST00000315596.10	+	32	4065	c.3879A>T	c.(3877-3879)ccA>ccT	p.P1293P		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1293					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GAGGCCGACCACCAAAACCTC	0.423000													16	15					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71747314	71747314	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:71747314G>T	ENST00000258104.3	+	10	1190	c.913G>T	c.(913-915)Gtg>Ttg	p.V305L	DYSF_ENST00000409744.1_Missense_Mutation_p.V306L|DYSF_ENST00000409366.1_Missense_Mutation_p.V306L|DYSF_ENST00000410041.1_Missense_Mutation_p.V337L|DYSF_ENST00000409762.1_Missense_Mutation_p.V336L|DYSF_ENST00000413539.2_Missense_Mutation_p.V336L|DYSF_ENST00000409651.1_Missense_Mutation_p.V337L|DYSF_ENST00000409582.3_Missense_Mutation_p.V336L|DYSF_ENST00000429174.2_Missense_Mutation_p.V305L|DYSF_ENST00000410020.3_Missense_Mutation_p.V337L|DYSF_ENST00000394120.2_Missense_Mutation_p.V306L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	305						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCAGATGGACGTGGGCACCAT	0.458000													22	108					1.50039e-11	1.96383e-11	1	1	0
SCLY	51540	broad.mit.edu	37	2	238973025	238973025	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:238973025G>T	ENST00000254663.6	+	2	283	c.141G>T	c.(139-141)acG>acT	p.T47T	SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000422984.2_Silent_p.T39T|UBE2F-SCLY_ENST00000449191.1_3'UTR|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000409736.2_Silent_p.T39T|SCLY_ENST00000429612.2_Silent_p.T39T|SCLY_ENST00000555827.1_Silent_p.T39T	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	39					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATAATGCAACGACTCCCCTGG	0.473000													33	9					5.8336e-16	8.37962e-16	1	1	0
THBS2	7058	broad.mit.edu	37	6	169637752	169637752	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:169637752C>A	ENST00000366787.3	-	9	1517	c.1268G>T	c.(1267-1269)cGg>cTg	p.R423L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	423	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACTGCAAGCCCGTGTCTGGAT	0.652000													4	33					1	1	1	1	0
ZNF800	168850	broad.mit.edu	37	7	127014600	127014600	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:127014600T>C	ENST00000393313.1	-	5	1381	c.790A>G	c.(790-792)Att>Gtt	p.I264V	ZNF800_ENST00000393312.1_Missense_Mutation_p.I264V|ZNF800_ENST00000265827.3_Missense_Mutation_p.I264V			Q2TB10	ZN800_HUMAN	zinc finger protein 800	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CGTGTTTCAATGTACTTTTTT	0.358000													30	95					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406947	77406947	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:77406947G>C	ENST00000560626.2	-	7	5267	c.4792C>G	c.(4792-4794)Ctc>Gtc	p.L1598V	PEAK1_ENST00000312493.4_Missense_Mutation_p.L1598V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1598	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCATAGATGAGGATGCCTGTC	0.542000													39	16					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123554453	123554453	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:123554453G>T	ENST00000422452.2	-	25	4753	c.4690C>A	c.(4690-4692)Ctg>Atg	p.L1564M	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L1557M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCAAGTTCAGGGTGTGTAGG	0.453000													13	29					9.31168e-06	1.05222e-05	1	1	0
DST	667	broad.mit.edu	37	6	56480682	56480682	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:56480682C>A	ENST00000370765.6	-	24	7690	c.7583G>T	c.(7582-7584)gGc>gTc	p.G2528V	DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1824					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGGGATGGCCAATCCCTGT	0.453000													42	146					4.92203e-23	8.17925e-23	1	1	0
OR5L2	26338	broad.mit.edu	37	11	55595300	55595300	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:55595300G>A	ENST00000378397.1	+	1	606	c.606G>A	c.(604-606)gtG>gtA	p.V202V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTTCCTGGTGGCCACTTTGA	0.458000										HNSCC(27;0.073)			128	187					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54501528	54501528	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:54501528G>T	ENST00000252729.2	+	2	957	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	CACNG6_ENST00000346968.2_Missense_Mutation_p.G123W|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	123						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTTCACCACGGGGGAGAATGC	0.517000													11	12					6.40141e-05	7.01156e-05	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22384322	22384322	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:22384322T>A	ENST00000263160.3	+	6	1136	c.699T>A	c.(697-699)gcT>gcA	p.A233A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	233					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCCTTTAGCTGGCATTCTTG	0.388000													37	19					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104378659	104378659	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:104378659C>A	ENST00000392872.3	+	8	1159	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	TDG_ENST00000266775.9_Missense_Mutation_p.Q305K|TDG_ENST00000542036.1_Missense_Mutation_p.Q105K|TDG_ENST00000544861.1_Missense_Mutation_p.Q166K	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	309					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TATGGACGTTCAAGAGGTGCA	0.368000								Base excision repair (BER), DNA glycosylases					26	92					1.64293e-13	2.22782e-13	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73479989	73479989	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:73479989C>T	ENST00000523207.1	+	2	608	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	7					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)			AAGGCTCCCCCGGGCTTAAAC	0.493000													129	83					0	0	1	0	0
BLID	414899	broad.mit.edu	37	11	121986417	121986417	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:121986417G>T	ENST00000560104.1	-	1	506	c.214C>A	c.(214-216)Ctt>Att	p.L72I		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	72					apoptosis	mitochondrion				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		GAGGAGCCAAGATTGTACCTT	0.468000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	157					6.20203e-27	1.07544e-26	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48232080	48232080	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:48232080A>G	ENST00000394747.1	-	15	2538	c.2189T>C	c.(2188-2190)aTc>aCc	p.I730T	ABCC11_ENST00000394748.1_Missense_Mutation_p.I730T|ABCC11_ENST00000353782.5_Missense_Mutation_p.I730T|ABCC11_ENST00000537808.1_Missense_Mutation_p.I730T|ABCC11_ENST00000356608.2_Missense_Mutation_p.I730T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	730	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATCTTCTGGATAAGTTGGGC	0.493000													32	131					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977325	30977325	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:30977325G>T	ENST00000262519.8	+	8	2809	c.2123G>T	c.(2122-2124)gGt>gTt	p.G708V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.G708A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCCCCCCCGGTGGGGCCTTT	0.647000													37	78					1.42033e-22	2.33734e-22	1	1	0
FEM1B	10116	broad.mit.edu	37	15	68582098	68582098	+	Silent	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:68582098G>C	ENST00000306917.4	+	2	1017	c.402G>C	c.(400-402)ctG>ctC	p.L134L		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	134					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ATGGCAGACTGGACATTGTGA	0.443000													24	16					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130781617	130781617	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:130781617G>T	ENST00000265909.4	-	2	2293	c.1724C>A	c.(1723-1725)gCc>gAc	p.A575D	SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.A575D|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.A18D	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	575	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGTGTGGTAGGCCAGCTGCTG	0.493000													15	78					8.60227e-14	1.17825e-13	1	1	0
GPAM	57678	broad.mit.edu	37	10	113932821	113932821	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:113932821C>A	ENST00000348367.4	-	8	761	c.564G>T	c.(562-564)ctG>ctT	p.L188L	GPAM_ENST00000369425.1_Silent_p.L188L|GPAM_ENST00000423155.1_Silent_p.L188L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	188					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CCCACCCAGTCAGTCTGAAAC	0.353000													43	30					3.61848e-18	5.47429e-18	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159505365	159505365	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:159505365C>T	ENST00000334857.2	-	1	477	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GACCCACACACCAGCTGGGCA	0.512000													42	104					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952231	124952231	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:124952231C>A	ENST00000360647.4	-	9	1824	c.1339G>T	c.(1339-1341)Gtt>Ttt	p.V447F	ZNF148_ENST00000492394.1_Missense_Mutation_p.V447F|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.V447F|ZNF148_ENST00000484491.1_Missense_Mutation_p.V447F|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	447					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AAATTATCAACCTGATCAATG	0.403000													64	35					2.43698e-19	3.78094e-19	1	1	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074508	46074508	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr21:46074508C>A	ENST00000391618.1	-	1	68	c.24G>T	c.(22-24)tcG>tcT	p.S8S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	8						keratin filament				lung(4)|ovary(1)|prostate(1)	6						TTGGGCAGCCCGAAGAGTGGC	0.657000													7	4					8.12818e-05	8.80337e-05	1	1	0
RADIL	55698	broad.mit.edu	37	7	4874689	4874689	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:4874689C>A	ENST00000399583.3	-	4	1152	c.965G>T	c.(964-966)gGg>gTg	p.G322V	RADIL_ENST00000536091.1_Missense_Mutation_p.G322V|RADIL_ENST00000538469.1_Missense_Mutation_p.G82V	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	322	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GATGTGCGCCCCGGGGATGGG	0.687000													6	14					0.217242	0.218856	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58602247	58602247	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:58602247C>G	ENST00000287275.1	-	6	930	c.540G>C	c.(538-540)tgG>tgC	p.W180C	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.W180C	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	180						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCCCAAAGGCCCAGTGTTCAT	0.418000													5	70					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28755029	28755029	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:28755029A>T	ENST00000422425.2	+	9	567	c.523A>T	c.(523-525)Agc>Tgc	p.S175C	PLB1_ENST00000327757.5_Missense_Mutation_p.S175C	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	175	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGTAATGCAAGCCAGTGTTA	0.468000													67	77					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160043511	160043511	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:160043511G>T	ENST00000263635.6	+	16	2955	c.2718G>T	c.(2716-2718)agG>agT	p.R906S	TANC1_ENST00000454300.1_Missense_Mutation_p.R800S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	906						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCTCTCAGGAATCTCTATA	0.602000													21	18					2.4624e-09	3.06331e-09	1	1	0
MFN1	55669	broad.mit.edu	37	3	179076728	179076728	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:179076728G>A	ENST00000471841.1	+	4	475	c.349G>A	c.(349-351)Gga>Aga	p.G117R	MFN1_ENST00000263969.5_Missense_Mutation_p.G117R|MFN1_ENST00000280653.7_Missense_Mutation_p.G117R	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	117					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAGTGTTGAAGGAACTGATGG	0.388000													47	30					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525555	150525555	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:150525555G>A	ENST00000271643.4	+	5	496	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R87Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R87Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R87Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	87	TSP type-1 1.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCCTCCCCGGCCCCCAAGA	0.682000													31	26					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116283549	116283549	+	Splice_Site	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:116283549G>T	ENST00000410059.1	+	5	921		c.e5+1		DPP10_ENST00000488208.1_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000409163.1_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGTCAAACAGGTAAAGGAGTG	0.348000													7	33					0.000157383	0.000169106	1	1	0
TRIM14	9830	broad.mit.edu	37	9	100862212	100862212	+	Splice_Site	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:100862212C>T	ENST00000341469.2	-	3	547		c.e3+1		TRIM14_ENST00000375098.3_Splice_Site|TRIM14_ENST00000342043.3_Splice_Site	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14							cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CCCAGCATTACCTGAAGCCTC	0.502000													3	36					0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52005044	52005044	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:52005044T>A	ENST00000395526.3	-	2	297	c.298A>T	c.(298-300)Agt>Tgt	p.S100C	ASAH2_ENST00000447815.1_Missense_Mutation_p.S100C|ASAH2_ENST00000329428.6_Missense_Mutation_p.S81C	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	100					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGGTAGCCACTGAAGTTCTGA	0.502000													110	103					0	0	1	0	0
CLN8	2055	broad.mit.edu	37	8	1719663	1719663	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:1719663G>T	ENST00000331222.4	+	2	690	c.443G>T	c.(442-444)gGc>gTc	p.G148V		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	148	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GGGTTTCTTGGCTGCTTGGTC	0.478000													23	18					1.87028e-06	2.16022e-06	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198697528	198697528	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:198697528C>A	ENST00000367376.2	+	16	1945	c.1774C>A	c.(1774-1776)Ctg>Atg	p.L592M	PTPRC_ENST00000594404.1_Missense_Mutation_p.L431M|PTPRC_ENST00000352140.3_Missense_Mutation_p.L544M|PTPRC_ENST00000442510.2_Missense_Mutation_p.L594M|PTPRC_ENST00000348564.6_Missense_Mutation_p.L433M	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	592					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						ATCAATAGCCCTGCTTGTTGT	0.299000													37	91					6.57855e-14	9.06556e-14	1	1	0
FAM194A	131831	broad.mit.edu	37	3	150421644	150421644	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:150421644C>T	ENST00000295910.6	-	1	94	c.42G>A	c.(40-42)ggG>ggA	p.G14G	FAM194A_ENST00000491361.1_5'UTR|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	14										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGTCCTTCTTCCCCGGGTCTC	0.657000													17	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	10					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478937	78478937	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:78478937C>A	ENST00000370763.5	+	2	671	c.414C>A	c.(412-414)agC>agA	p.S138R	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	138					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TTGGTTTCAGCATGAATGGAT	0.418000													36	125					3.93418e-24	6.65181e-24	1	1	0
FGG	2266	broad.mit.edu	37	4	155527885	155527885	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:155527885A>T	ENST00000404648.3	-	8	1340	c.1101T>A	c.(1099-1101)gcT>gcA	p.A367A	FGG_ENST00000407946.1_Silent_p.A375A|FGG_ENST00000405164.1_Silent_p.A375A|FGG_ENST00000336098.3_Silent_p.A367A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	367	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGAGATGGCCAGCGTGACACT	0.368000													63	35					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132335654	132335654	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:132335654T>A	ENST00000360564.1	+	10	1749	c.1647T>A	c.(1645-1647)caT>caA	p.H549Q	MMP17_ENST00000535004.1_Missense_Mutation_p.H89Q|MMP17_ENST00000535291.1_Missense_Mutation_p.H465Q	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	549					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)		CAGGACAACATGACCAGAGCC	0.706000													5	5					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642677	137642677	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:137642677C>T	ENST00000371817.3	+	13	2025	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	537	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGGCCCCATGGTCTCAG	0.637000													6	8					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205598	38205598	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:38205598T>A	ENST00000317025.8	-	2	609	c.92A>T	c.(91-93)gAg>gTg	p.E31V	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.E31V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E31V|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E31V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	31					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAAGGCATCCTCCTGACGGAT	0.458000			T	NUP98	AML								27	190					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668341	53668341	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:53668341T>A	ENST00000600412.1	-	2	1322	c.1207A>T	c.(1207-1209)Aca>Tca	p.T403S	ZNF665_ENST00000396424.3_Missense_Mutation_p.T468S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAATTTTGTGTGAAGACCTTA	0.428000													44	28					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136961545	136961545	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:136961545C>A	ENST00000508657.1	-	14	2250	c.1536G>T	c.(1534-1536)ggG>ggT	p.G512G	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Silent_p.G462G|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000309755.4_Silent_p.G544G	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	544						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ATCCATCATCCCCTCCAACCA	0.512000													26	18					1.64293e-13	2.22782e-13	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50960711	50960711	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:50960711C>A	ENST00000374103.4	-	4	536	c.451G>T	c.(451-453)Gac>Tac	p.D151Y	OGDHL_ENST00000419399.1_Missense_Mutation_p.D94Y|OGDHL_ENST00000432695.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	151					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						GTGATCAAGTCTGAGGGCACA	0.602000													31	33					1.45844e-13	1.99359e-13	1	1	0
WBSCR28	135886	broad.mit.edu	37	7	73280071	73280071	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:73280071G>T	ENST00000320531.2	+	3	702	c.666G>T	c.(664-666)acG>acT	p.T222T		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	222						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTGAGCACACGACCCAGCTGG	0.627000													36	112					5.8336e-16	8.37962e-16	1	1	0
T	6862	broad.mit.edu	37	6	166574347	166574347	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:166574347C>T	ENST00000296946.2	-	8	1480	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	T_ENST00000366871.3_Missense_Mutation_p.A280T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	338					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGTGGGCTGGCATTGTGGCTC	0.547000									Chordoma, Familial Clustering of				21	38					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862065	8862065	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:8862065G>T	ENST00000396600.2	+	10	1557	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	ABAT_ENST00000268251.8_Missense_Mutation_p.D207Y|ABAT_ENST00000569156.1_Missense_Mutation_p.D207Y|ABAT_ENST00000425191.2_Missense_Mutation_p.D207Y|ABAT_ENST00000567812.1_Missense_Mutation_p.D222Y	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	207					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.D207N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGGCTGCCCCGACTACAGCAT	0.507000													22	32					1.64293e-13	2.22782e-13	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31309182	31309182	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:31309182G>T	ENST00000544665.3	+	14	1688	c.1617G>T	c.(1615-1617)gtG>gtT	p.V539V	ITGAM_ENST00000287497.8_Silent_p.V538V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	538					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGACGGACGTGGCCATTGGGG	0.622000													27	85					3.65163e-15	5.1472e-15	1	1	0
GPRC6A	222545	broad.mit.edu	37	6	117128102	117128102	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:117128102C>T	ENST00000310357.3	-	3	787	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	GPRC6A_ENST00000368549.3_Missense_Mutation_p.V256I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.V256I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	256					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTGATTCTGACTTCAATGGTA	0.363000													13	84					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723320	142723320	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:142723320C>T	ENST00000350513.2	-	1	962	c.900G>A	c.(898-900)ggG>ggA	p.G300G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGCGTTTCATCCCATCTCGGA	0.423000													14	74					0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97483147	97483147	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:97483147C>T	ENST00000305510.3	+	1	1161	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	CNNM3_ENST00000377060.3_Missense_Mutation_p.P378L	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	378	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GACTGCACGCCGCTCAGCACC	0.587000													47	39					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283158	5283158	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:5283158A>T	ENST00000546004.1	-	3	929	c.683T>A	c.(682-684)tTt>tAt	p.F228Y	PROKR2_ENST00000217270.3_Missense_Mutation_p.F228Y			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	228						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTCGACACCAAAGATGAAGAG	0.552000										HNSCC(71;0.22)			12	75					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857604	50857604	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:50857604C>A	ENST00000395562.2	+	11	1656	c.1187C>A	c.(1186-1188)cCc>cAc	p.P396H	CHAT_ENST00000455728.2_Missense_Mutation_p.P360H|CHAT_ENST00000395559.2_Missense_Mutation_p.P360H|CHAT_ENST00000337653.2_Missense_Mutation_p.P478H|CHAT_ENST00000339797.1_Missense_Mutation_p.P360H|CHAT_ENST00000351556.3_Missense_Mutation_p.P360H	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	478				V -> L (in Ref. 6; AAB23557).	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGCGAGCTCCCCGCCCCCCGG	0.617000													38	33					5.04308e-16	7.306e-16	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121679536	121679536	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:121679536A>T	ENST00000393386.2	+	20	5942	c.5531A>T	c.(5530-5532)gAt>gTt	p.D1844V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D977V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1844	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGCCTGCCGATGGGAGTGAG	0.393000													8	50					0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17997937	17997937	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:17997937C>A	ENST00000281047.3	+	1	175	c.152C>A	c.(151-153)cCa>cAa	p.P51Q		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	51					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCCCGGCTCCATCGCTGGAA	0.642000													10	71					4.68919e-08	5.69762e-08	1	1	0
FCN1	2219	broad.mit.edu	37	9	137801748	137801748	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:137801748G>A	ENST00000371806.3	-	9	968	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	293	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.L291fs*3(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GGTCCCATGAGGTAGAGACCA	0.512000													20	79					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928068	38928068	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:38928068G>T	ENST00000335552.4	-	1	346	c.298C>A	c.(298-300)Cat>Aat	p.H100N		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	100	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCATGCACATGGTCCAGGTAG	0.547000													107	39					1.09905e-38	2.04152e-38	1	1	0
ITCH	83737	broad.mit.edu	37	20	33068415	33068415	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:33068415T>C	ENST00000374864.4	+	19	2043	c.1830T>C	c.(1828-1830)caT>caC	p.H610H	ITCH_ENST00000262650.6_Silent_p.H651H|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.H500H	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	651	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CTCTGTTCCATGGGAAATTCA	0.308000													66	104					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086204	100086204	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:100086204C>A	ENST00000423930.1	+	4	1019	c.860C>A	c.(859-861)tCc>tAc	p.S287Y	NYAP1_ENST00000454988.1_Missense_Mutation_p.S230Y|NYAP1_ENST00000300179.2_Missense_Mutation_p.S287Y			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	287	Pro-rich.																ACGGCAACATCCCCGCCACAA	0.657000													4	35					0.00909568	0.00940072	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33583225	33583225	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:33583225T>C	ENST00000321505.4	+	7	3311	c.3131T>C	c.(3130-3132)cTg>cCg	p.L1044P	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L1050P|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L1050P					KIAA1549-like																		GTTTTAGCACTGGAATATCCC	0.318000													18	43					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282201	130282201	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:130282201T>A	ENST00000358511.6	+	2	385	c.354T>A	c.(352-354)taT>taA	p.Y118*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.Y118*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	118	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAGGACTTATTTCTCTGCAC	0.502000													22	14					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57717956	57717956	+	Missense_Mutation	SNP	A	A	G	rs148924785	by1000genomes	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:57717956A>G	ENST00000333493.4	+	9	1155	c.994A>G	c.(994-996)Aag>Gag	p.K332E	GPR97_ENST00000327655.6_Missense_Mutation_p.K122E|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.K212E	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	332					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGTGGCTCAAAGGGGTCTGA	0.592000													61	79					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:35223537C>A	ENST00000338513.1	+	2	779	c.606C>A	c.(604-606)ctC>ctA	p.L202L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	202					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547000													21	40					2.4624e-09	3.06331e-09	1	1	0
C3orf58	205428	broad.mit.edu	37	3	143708572	143708572	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:143708572G>T	ENST00000315691.3	+	3	1717	c.1182G>T	c.(1180-1182)cgG>cgT	p.R394R	C3orf58_ENST00000495414.1_Silent_p.R185R|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Silent_p.R156R	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	394						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGATGGCCGGCTCGAGGCCT	0.502000													45	25					6.4771e-29	1.14064e-28	1	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917828	32917828	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:32917828G>T	ENST00000361627.3	+	6	1578	c.856G>T	c.(856-858)Gta>Tta	p.V286L	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.V97L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.V97L|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.V286L|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.V286L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	286					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AAGACAAAGTGTAGGAGGTAA	0.408000													103	62					4.09499e-44	7.71222e-44	1	1	0
CA8	767	broad.mit.edu	37	8	61178512	61178512	+	Missense_Mutation	SNP	G	G	A	rs139958315		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:61178512G>A	ENST00000317995.4	-	3	653	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	130					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GAAATTAACCGTGTGCTCAGA	0.388000													39	36					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60938156	60938156	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:60938156A>G	ENST00000321731.3	-	7	692	c.533T>C	c.(532-534)cTt>cCt	p.L178P		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	178										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CCATTTAGTAAGTGATGGAAA	0.254000													8	4					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57968992	57968992	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:57968992G>A	ENST00000455537.2	+	16	2116	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	KIF5A_ENST00000286452.5_Silent_p.E525E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	614					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCCAGGTGGAGTGTCACCGCA	0.552000													27	7					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056284	9056284	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:9056284G>T	ENST00000397910.4	-	3	31365	c.31162C>A	c.(31162-31164)Cca>Aca	p.P10388T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10390	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						GTCCTGCCTGGTTGGCTTGAA	0.483000													96	50					1.63847e-34	2.95447e-34	1	1	0
KIFC1	3833	broad.mit.edu	37	6	33372691	33372691	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:33372691G>T	ENST00000428849.2	+	7	1269	c.819G>T	c.(817-819)cgG>cgT	p.R273R		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	273					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CATCTCTGCGGCAGGAGACTG	0.577000													7	77					8.12818e-05	8.80337e-05	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21940120	21940120	+	Splice_Site	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:21940120C>A	ENST00000542643.2	-	10	777		c.e10+1		RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374757.3_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374765.4_Splice_Site	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGAGACCTCACCTTTGCCATC	0.597000													4	60					0.184627	0.186553	1	1	0
TRIO	7204	broad.mit.edu	37	5	14498234	14498234	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:14498234C>A	ENST00000344204.4	+	52	8108	c.8084C>A	c.(8083-8085)aCg>aAg	p.T2695K	TRIO_ENST00000537187.1_Missense_Mutation_p.T2519K|TRIO_ENST00000344135.5_Missense_Mutation_p.T194K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2695	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.T2695M(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGTGAGGTCACGTGTGAGACA	0.552000													40	107					7.04047e-22	1.14197e-21	1	1	0
C20orf85	128602	broad.mit.edu	37	20	56735864	56735864	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:56735864C>A	ENST00000371168.3	+	4	461	c.400C>A	c.(400-402)Cag>Aag	p.Q134K		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	134										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CTGGCCCAAGCAGGGCGTGCA	0.597000													13	25					1.49906e-05	1.66344e-05	1	1	0
KIN	22944	broad.mit.edu	37	10	7801895	7801895	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:7801895G>A	ENST00000379562.3	-	12	1124	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Silent_p.S359S|KIN_ENST00000543003.1_Silent_p.S253S			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	359	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCTCATTGATGGATTCTAGGG	0.303000													14	54					0	0	1	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66307226	66307226	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:66307226C>T	ENST00000310442.3	-	3	863	c.629G>A	c.(628-630)tGc>tAc	p.C210Y	ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	210	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCCAGCCCCGCACAGCAGCGC	0.647000													13	14					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227915798	227915798	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:227915798C>A	ENST00000396625.3	-	33	3252	c.3045G>T	c.(3043-3045)ggG>ggT	p.G1015G	COL4A4_ENST00000329662.7_Silent_p.G1015G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1015	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACCAGGTTCCCCTCTGTGAA	0.557000													10	103					0.000442599	0.000468147	1	1	0
ERN2	10595	broad.mit.edu	37	16	23713741	23713741	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:23713741C>A	ENST00000256797.4	-	10	1363	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	ERN2_ENST00000457008.2_Missense_Mutation_p.V351L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	351					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGGAGGGCCACACTGCCTGAG	0.577000													60	137					9.53978e-28	1.667e-27	1	1	0
ZNF691	51058	broad.mit.edu	37	1	43316724	43316724	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:43316724G>T	ENST00000372504.1	+	5	511	c.161G>T	c.(160-162)tGg>tTg	p.W54L	ZNF691_ENST00000397044.3_Missense_Mutation_p.W63L|ZNF691_ENST00000372507.1_Missense_Mutation_p.W32L|ZNF691_ENST00000372508.3_Missense_Mutation_p.W32L|ZNF691_ENST00000372506.1_Missense_Mutation_p.W32L|ZNF691_ENST00000372502.1_Missense_Mutation_p.W54L			Q5VV52	ZN691_HUMAN	zinc finger protein 691	63						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGGTTCTTGGATCCCACCT	0.552000													39	60					2.05212e-20	3.24321e-20	1	1	0
TNXB	7148	broad.mit.edu	37	6	32020582	32020582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:32020582G>A	ENST00000375244.3	-	26	9181	c.8980C>T	c.(8980-8982)Cag>Tag	p.Q2994*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.Q2992*			P22105	TENX_HUMAN	tenascin XB	3039					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCACCACCTGGGGCCGCCCG	0.667000													43	30					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060086	128060086	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:128060086A>C	ENST00000254730.6	+	5	851	c.797A>C	c.(796-798)aAg>aCg	p.K266T	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.K211T	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	266						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTGGTGAAGAAGGTGAAGTCC	0.567000													41	17					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463000										TSP Lung(15;0.13)			33	46					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148206922	148206922	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:148206922C>T	ENST00000305988.4	+	1	767	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	176					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GGTACCGGGCCACCCACCAGG	0.537000													61	39					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840371	130840371	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:130840371T>C	ENST00000509018.1	-	11	1407	c.1202A>G	c.(1201-1203)gAg>gGg	p.E401G	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E401G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E401G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E401G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E401G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E116G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E401G|FNIP1_ENST00000514667.1_Missense_Mutation_p.E451G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	401					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTCCCGATGCTCATGTACCAT	0.383000													83	36					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127394816	127394816	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:127394816C>G	ENST00000232744.8	+	4	265	c.179C>G	c.(178-180)gCc>gGc	p.A60G	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	60						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCCCCAGGAGCCCGCTGCGAG	0.642000													8	9					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113678638	113678638	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:113678638C>A	ENST00000297405.5	-	17	2928	c.2684G>T	c.(2683-2685)tGt>tTt	p.C895F	CSMD3_ENST00000343508.3_Missense_Mutation_p.C855F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C895F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C791F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	895	CUB 5.					integral to membrane|plasma membrane		p.C895Y(1)|p.C855Y(1)		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						ATGGCCACCACATGGGGCTGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	35					0.0105039	0.0108396	1	1	0
NSUN6	221078	broad.mit.edu	37	10	18885149	18885149	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:18885149T>A	ENST00000377304.4	-	7	1183	c.765A>T	c.(763-765)ctA>ctT	p.L255L		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	255							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GATCATGCATTAGTGCTGCAA	0.413000													22	60					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491138	103491138	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:103491138T>C	ENST00000358392.2	-	7	1282	c.965A>G	c.(964-966)aAc>aGc	p.N322S	COL11A1_ENST00000370096.3_Missense_Mutation_p.N310S|COL11A1_ENST00000353414.4_Missense_Mutation_p.N271S|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	310	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTTCCATAGTTGTATTCTTG	0.353000													44	63					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588782	247588782	+	Silent	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:247588782G>C	ENST00000366497.2	+	4	2817	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	NLRP3_ENST00000391827.2_Silent_p.L679L|NLRP3_ENST00000366496.2_Silent_p.L679L|NLRP3_ENST00000336119.3_Silent_p.L679L|NLRP3_ENST00000348069.2_Silent_p.L679L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.L679L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	679					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGAGTCACTGTCCCTGGGGT	0.507000													17	59					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112405	248112405	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248112405T>A	ENST00000357191.3	+	1	246	c.246T>A	c.(244-246)tcT>tcA	p.S82S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGATGGCATCTGATTTTCTGC	0.448000													137	385					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232326413	232326413	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:232326413C>T	ENST00000322723.4	-	3	691	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	151	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	p.D151N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcactgtcatcatcctcctct	0.527000													32	18					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50369254	50369254	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:50369254T>A	ENST00000315520.5	+	4	986	c.649T>A	c.(649-651)Tgg>Agg	p.W217R	AQP6_ENST00000551733.1_Missense_Mutation_p.W43R	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	217					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TCAGGTCTTCTGGGTGGGGCC	0.632000													84	43					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8376515	8376515	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:8376515G>T	ENST00000332175.8	+	24	4380	c.3343G>T	c.(3343-3345)Gcc>Tcc	p.A1115S	PTPRM_ENST00000400053.4_Missense_Mutation_p.A1053S|PTPRM_ENST00000444013.1_Missense_Mutation_p.A902S|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1129S|PTPRM_ENST00000580170.1_Missense_Mutation_p.A1128S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1115	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTGGACATGGCCGAAAGGGA	0.542000													34	17					3.90053e-15	5.48663e-15	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94962940	94962940	+	Silent	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr14:94962940C>T	ENST00000341228.2	-	4	1470	c.675G>A	c.(673-675)gaG>gaA	p.E225E	SERPINA12_ENST00000556881.1_Silent_p.E225E	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	225					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AGAAATCTTCCTCTTTAGTTA	0.408000													10	36					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761875	164761875	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:164761875G>T	ENST00000420696.2	+	3	598	c.410G>T	c.(409-411)gGa>gTa	p.G137V	PBX1_ENST00000540246.1_Missense_Mutation_p.G32V|PBX1_ENST00000540236.1_Missense_Mutation_p.G137V|PBX1_ENST00000367897.1_Missense_Mutation_p.G137V|PBX1_ENST00000560641.1_Missense_Mutation_p.G32V|PBX1_ENST00000401534.1_Missense_Mutation_p.G137V|PBX1_ENST00000559240.1_Missense_Mutation_p.G137V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	137					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						gcggcTTCTGGAGGGGCAGGT	0.602000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								24	47					4.26978e-12	5.62118e-12	1	1	0
POU2F2	5452	broad.mit.edu	37	19	42621519	42621519	+	Splice_Site	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:42621519C>T	ENST00000389341.5	-	5	253		c.e5-1		POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000560398.1_Silent_p.Q84Q|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2						humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CAGCCTTGATCTGGGGGGGAG	0.632000													22	30					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34009984	34009984	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:34009984G>T	ENST00000297161.2	+	6	820	c.446G>T	c.(445-447)tGt>tTt	p.C149F	BMPER_ENST00000426693.1_Missense_Mutation_p.C149F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	149	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTGTTCATTGTAAAAACCCT	0.493000													42	76					1.15505e-17	1.73257e-17	1	1	0
REG3G	130120	broad.mit.edu	37	2	79253955	79253955	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:79253955G>T	ENST00000272324.5	+	3	377	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	REG3G_ENST00000409471.1_Missense_Mutation_p.D65Y|REG3G_ENST00000393897.2_Missense_Mutation_p.D65Y	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	65	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGGATGCAGATGTGAGTGG	0.552000													11	51					6.40141e-05	7.01156e-05	1	1	0
TBC1D31	93594	broad.mit.edu	37	8	124109635	124109635	+	Missense_Mutation	SNP	G	G	T	rs142466644	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:124109635G>T	ENST00000287380.1	+	6	875	c.785G>T	c.(784-786)cGc>cTc	p.R262L	TBC1D31_ENST00000378080.2_Missense_Mutation_p.R157L|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R262L|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R157L|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R262L|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R157L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		CGAGCCATTCGCCATCTGGAA	0.433000													23	29					3.5997e-14	4.99099e-14	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	G	A	rs11261835	by1000genomes	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:43627428G>A	ENST00000332857.6	-	4	1287	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P420L(1)									GTGCAGAGAGGGGAGGCCCCA	0.498000													7	40					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85661360	85661360	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:85661360C>G	ENST00000322366.6	-	39	6851	c.6444G>C	c.(6442-6444)ttG>ttC	p.L2148F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L2148F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2148						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTAGATTTATCAAGCAGTGGG	0.388000													13	54					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784514	32784514	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:32784514G>T	ENST00000342743.5	+	2	698	c.333G>T	c.(331-333)ctG>ctT	p.L111L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	111						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CAGATGAGCTGGCTAAGAAGG	0.612000													26	14					3.6726e-16	5.33196e-16	1	1	0
GAGE10	643832	broad.mit.edu	37	X	49161355	49161355	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:49161355G>T	ENST00000407599.3	+	2	110	c.17G>T	c.(16-18)aGa>aTa	p.R6I		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	6										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					TGGCGAGGAAGATCGACCTAT	0.448000													90	43					2.18481e-45	4.13771e-45	1	1	0
OR2Y1	134083	broad.mit.edu	37	5	180166823	180166823	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:180166823G>T	ENST00000307832.2	-	1	276	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGAGCTGGGGCACGGTGCT	0.587000													23	18					1.10513e-12	1.46918e-12	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70080208	70080208	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:70080208G>T	ENST00000446444.1	-	1	241	c.233C>A	c.(232-234)cCt>cAt	p.P78H	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	78					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAAAGATGTAGGATAAACTTC	0.358000													73	34					5.02053e-37	9.17498e-37	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169141205	169141205	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:169141205C>A	ENST00000256935.8	+	18	1913	c.1833C>A	c.(1831-1833)ctC>ctA	p.L611L	DOCK2_ENST00000520908.1_Silent_p.L103L|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	611	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACAAAGCTCACTCAGAATG	0.557000													11	23					3.86212e-05	4.24395e-05	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37356830	37356830	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:37356830G>T	ENST00000217420.1	+	2	1389	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	376					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TAACCTGCCCGGCTCCATCCG	0.622000													8	53					5.18039e-06	5.89313e-06	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68188219	68188219	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:68188219T>C	ENST00000262215.3	-	9	1718	c.1329A>G	c.(1327-1329)ccA>ccG	p.P443P		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	443					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTTGGATCTGGTGGTCCAT	0.358000													40	38					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984781	110984781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:110984781C>A	ENST00000524391.1	-	3	1729	c.697G>T	c.(697-699)Gag>Tag	p.E233*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.E233*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	233						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGCTTAACTCAGCTGACATC	0.537000													47	60					1.41504e-22	2.33734e-22	1	1	0
LHFPL1	340596	broad.mit.edu	37	X	111914460	111914460	+	Silent	SNP	A	A	G	rs148325546		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:111914460A>G	ENST00000371968.3	-	2	398	c.159T>C	c.(157-159)ccT>ccC	p.P53P	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.P53P	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	53						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTCCCCGCACAGGGTAGTTGC	0.552000													67	30					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167301481	167301481	+	Silent	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:167301481A>G	ENST00000409855.1	-	12	1543	c.1417T>C	c.(1417-1419)Tta>Cta	p.L473L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	473					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TACCAGTATAATGGGCATATC	0.373000													4	19					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86361567	86361567	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:86361567C>T	ENST00000370571.2	-	31	3262	c.2896G>A	c.(2896-2898)Gga>Aga	p.G966R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G966R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	966	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTCTTTCTCCAGGGTTTCCA	0.338000													13	14					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112779952	112779952	+	Nonsense_Mutation	SNP	G	G	T	rs55924349	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:112779952G>T	ENST00000295408.4	+	18	2724	c.2467G>T	c.(2467-2469)Gaa>Taa	p.E823*	MERTK_ENST00000421804.2_Nonsense_Mutation_p.E823*|MERTK_ENST00000409780.1_Nonsense_Mutation_p.E647*			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	823	Protein kinase.		E -> Q (in dbSNP:rs55924349).		cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GAAGCAGCCCGAAGACTGCCT	0.552000													15	48					2.32078e-09	2.89778e-09	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52145288	52145288	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:52145288A>G	ENST00000354534.5	+	14	2459	c.2281A>G	c.(2281-2283)Atc>Gtc	p.I761V	SCN8A_ENST00000545061.1_Missense_Mutation_p.I761V|SCN8A_ENST00000550891.1_Missense_Mutation_p.I761V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	761					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)	AGCCATCACCATCTGCATCGT	0.433000													71	27					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135985	46135985	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:46135985A>C	ENST00000371383.2	-	3	275	c.15T>G	c.(13-15)ttT>ttG	p.F5L	ENPP5_ENST00000230565.3_Missense_Mutation_p.F5L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	5						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACACCAAGAGAAATTTCGAAG	0.343000													36	43					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683010	71683010	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:71683010A>C	ENST00000393524.2	-	17	4287	c.3554T>G	c.(3553-3555)cTg>cGg	p.L1185R	PHLPP2_ENST00000356272.3_Missense_Mutation_p.L1252R|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000567016.1_Missense_Mutation_p.L1287R|PHLPP2_ENST00000568954.1_Missense_Mutation_p.L1252R			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1252						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATGAGGTTCAGGCTGTCCTC	0.517000													36	116					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328607	3328607	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:3328607G>T	ENST00000378398.3	+	10	1931	c.1849G>T	c.(1849-1851)Gac>Tac	p.D617Y	PRDM16_ENST00000514189.1_Missense_Mutation_p.D617Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.D616Y|PRDM16_ENST00000442529.2_Missense_Mutation_p.D616Y|PRDM16_ENST00000441472.2_Missense_Mutation_p.D616Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.D617Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.D616Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	616					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)		GACCGACCTGGACACGACCAC	0.642000			T	EVI1	"""MDS, AML"""								32	76					7.11191e-15	9.92155e-15	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18364057	18364057	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:18364057C>T	ENST00000429452.1	-	17	2606	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.E752K	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	752						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGAGAACACTCCTTTTCCCGT	0.542000													19	39					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7479967	7479967	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:7479967T>C	ENST00000293831.8	+	5	487	c.471T>C	c.(469-471)ggT>ggC	p.G157G	EIF4A1_ENST00000577269.1_Silent_p.G157G|EIF4A1_ENST00000582746.1_Silent_p.G157G|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	157	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCATCGTGGGTACCCCTGGCC	0.557000													4	51					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24448431	24448431	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:24448431G>A	ENST00000230036.1	-	16	1562	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	484						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.A484A(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGACATACACGGCACCCTAGA	0.448000													6	52					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365805	175365805	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:175365805C>T	ENST00000367674.1	-	5	1823	c.1115G>A	c.(1114-1116)cGg>cAg	p.R372Q	TNR_ENST00000263525.2_Missense_Mutation_p.R372Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	372	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCAGGCACCCGCTGCTGGAG	0.592000													45	49					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123673700	123673700	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:123673700G>T	ENST00000334268.4	-	21	1670	c.1353C>A	c.(1351-1353)acC>acA	p.T451T	TRDN_ENST00000398178.3_Silent_p.T451T			Q13061	TRDN_HUMAN	triadin	451					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCACTGTCTTGGTTGTTTTCT	0.398000													3	25					0.115264	0.117165	1	1	0
FBXO43	286151	broad.mit.edu	37	8	101153039	101153039	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:101153039T>A	ENST00000428847.2	-	2	1759	c.1443A>T	c.(1441-1443)atA>atT	p.I481I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	481					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GTCCTGCAAGTATACACTGCA	0.358000													143	185					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204135378	204135378	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:204135378A>G	ENST00000367195.2	-	1	87	c.44T>C	c.(43-45)cTg>cCg	p.L15P	REN_ENST00000272190.8_Missense_Mutation_p.L15P			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GCCCCAGAGCAGCAGCAGCAG	0.577000													32	31					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911713	67911713	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:67911713A>T	ENST00000358933.5	+	7	1098	c.859A>T	c.(859-861)Aag>Tag	p.K287*	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	287					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TAGCCAGATCAAGCAGGGCTT	0.577000													7	61					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310415	61310415	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:61310415C>T	ENST00000341074.5	-	3	317	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E68K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GCAGCTTTTTCTGTGGTGTTC	0.403000													20	16					0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191078868	191078868	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:191078868G>C	ENST00000392455.3	+	4	848	c.250G>C	c.(250-252)Gac>Cac	p.D84H	CCDC50_ENST00000392456.3_Missense_Mutation_p.D84H	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	84						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TGAACAACAAGACTGTGAAAT	0.343000													42	18					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113259300	113259300	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:113259300G>T	ENST00000297405.5	-	64	10415	c.10171C>A	c.(10171-10173)Cgc>Agc	p.R3391S	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3351S|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3321S|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3222S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3391	Sushi 27.					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						AGGCAGGTGCGTGTTGTAGAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			30	45					8.73648e-17	1.29049e-16	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47531920	47531920	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr21:47531920A>G	ENST00000300527.4	+	3	247	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	COL6A2_ENST00000409416.1_Missense_Mutation_p.Y48C|COL6A2_ENST00000310645.5_Missense_Mutation_p.Y48C|COL6A2_ENST00000397763.1_Missense_Mutation_p.Y48C|COL6A2_ENST00000357838.4_Missense_Mutation_p.Y48C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	48	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATCCACGTGTACTTCGTGCTG	0.622000													31	41					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44441491	44441491	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr21:44441491C>G	ENST00000291547.5	+	8	1010	c.799C>G	c.(799-801)Cca>Gca	p.P267A	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P150A	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	267							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGGCGTCCTGCCAAAGCATGC	0.512000													12	47					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51480524	51480524	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:51480524A>G	ENST00000374095.5	-	3	421	c.296T>C	c.(295-297)gTa>gCa	p.V99A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	99					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCTTATTTCTACAACTAAGAA	0.274000													3	23					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61533620	61533620	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:61533620G>T	ENST00000278836.5	+	3	421	c.325G>T	c.(325-327)Gct>Tct	p.A109S	MYRF_ENST00000265460.5_Missense_Mutation_p.A100S	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CGGCATGGGCGCTGCCCCCAA	0.716000													28	21					2.61193e-14	3.62887e-14	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55601999	55601999	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:55601999G>A	ENST00000436346.1	-	4	1135	c.294C>T	c.(292-294)atC>atT	p.I98I	CCDC88A_ENST00000336838.6_Silent_p.I98I|CCDC88A_ENST00000413716.2_Silent_p.I98I|CCDC88A_ENST00000263630.8_Silent_p.I98I	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	98					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACGACATCATGATCAATTGCT	0.308000													9	61					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537664	54537664	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:54537664C>G	ENST00000474759.1	+	5	575	c.527C>G	c.(526-528)aCg>aGg	p.T176R	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.T176R|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.T82R|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.T176R	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	176						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAAGTACCAACGAACATGTAC	0.448000													7	27					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25467560	25467560	+	RNA	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:25467560G>T	ENST00000453082.2	+	0	753				SNORD115-28_ENST00000363931.1_RNA	NR_003343.1																						TGCTCAATAGGATTACACTTA	0.512000													68	43					3.28884e-47	6.26358e-47	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196722178	196722178	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:196722178T>A	ENST00000312428.6	-	44	8437	c.8337A>T	c.(8335-8337)gtA>gtT	p.V2779V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2779	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						TTTTTTCTGGTACAAAATCTG	0.348000													12	55					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21973829	21973829	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:21973829G>T	ENST00000268379.4	+	5	1145	c.381G>T	c.(379-381)cgG>cgT	p.R127R	UQCRC2_ENST00000561553.1_Silent_p.R127R	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	127					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AATGCCTGCGGGGTGATGTGT	0.413000													26	91					2.48779e-11	3.23748e-11	1	1	0
C1QTNF9B	387911	broad.mit.edu	37	13	24466126	24466126	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:24466126G>T	ENST00000382137.3	-	3	372	c.304C>A	c.(304-306)Ccc>Acc	p.P102T	C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.P102T|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	102	Collagen-like 2.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGCCCCTTGGGGCCATGTTTT	0.537000													25	39					2.27525e-19	3.53812e-19	1	1	0
SLC6A19	340024	broad.mit.edu	37	5	1210683	1210683	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:1210683C>A	ENST00000304460.10	+	3	524	c.468C>A	c.(466-468)aaC>aaA	p.N156K		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	156					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCGCTCAACGAGAACCAGA	0.542000													15	24					7.93312e-07	9.22582e-07	1	1	0
KCNV2	169522	broad.mit.edu	37	9	2718032	2718032	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:2718032C>T	ENST00000382082.3	+	1	531	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	98						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGCTGTCCACGCTGAATGTG	0.682000													3	14					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102168	29102168	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr18:29102168G>T	ENST00000261590.8	+	6	855	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	DSG2_ENST00000585206.1_Missense_Mutation_p.D216Y	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	216	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTAAATAAAGATACAGGAGA	0.393000													3	36					2.56e-06	2.93685e-06	1	1	0
P4HA3	283208	broad.mit.edu	37	11	73979202	73979202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:73979202C>A	ENST00000331597.4	-	12	1597	c.1552G>T	c.(1552-1554)Gga>Tga	p.G518*	P4HA3_ENST00000427714.2_Missense_Mutation_p.W515C	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	518	Fe2OG dioxygenase.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CACTTATCTCCCACCAGGACA	0.552000													71	176					5.62145e-24	9.45742e-24	1	1	0
RPS7	6201	broad.mit.edu	37	2	3623248	3623248	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:3623248G>T	ENST00000407445.3	+	2	96	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	RPS7_ENST00000406376.1_Missense_Mutation_p.D17Y|RPS7_ENST00000403564.1_Missense_Mutation_p.D17Y|RPS7_ENST00000304921.5_Missense_Mutation_p.D17Y			P62081	RS7_HUMAN	ribosomal protein S7	17					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CGAGAAGCCGGACGAGTTCGA	0.672000													7	32					8.12818e-05	8.80337e-05	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366945	248366945	+	Silent	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248366945A>T	ENST00000456743.1	+	1	614	c.576A>T	c.(574-576)acA>acT	p.T192T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGTGACACATCAATATTTG	0.418000													117	353					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107823945	107823945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:107823945G>T	ENST00000328300.6	+	15	1112	c.868G>T	c.(868-870)Gag>Tag	p.E290*	COL4A5_ENST00000361603.2_Nonsense_Mutation_p.E290*	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	290	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGAGAAGGGTGAGCAAGGAGA	0.378000									Alport syndrome with Diffuse Leiomyomatosis				28	10					1.50538e-07	1.80327e-07	1	1	0
PER3	8863	broad.mit.edu	37	1	7887624	7887624	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:7887624C>A	ENST00000377532.3	+	17	2859	c.2635C>A	c.(2635-2637)Ctg>Atg	p.L879M	PER3_ENST00000361923.2_Missense_Mutation_p.L871M			P56645	PER3_HUMAN	period circadian clock 3	871	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTCCATTCCTGGGGGCGAC	0.527000													56	135					1.46156e-29	2.5873e-29	1	1	0
C16orf78	123970	broad.mit.edu	37	16	49407957	49407957	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:49407957A>G	ENST00000299191.3	+	1	224	c.107A>G	c.(106-108)gAg>gGg	p.E36G		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	36										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGTGTGCTGGAGTGGCTGGAG	0.507000													15	104					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027741	87027741	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:87027741G>T	ENST00000398399.2	-	2	701	c.338C>A	c.(337-339)gCc>gAc	p.A113D	VGLL3_ENST00000383698.3_Missense_Mutation_p.A113D	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GAGGGTGATGGCTTGGCCCAA	0.483000													35	66					9.04072e-19	1.39309e-18	1	1	0
CXorf66	347487	broad.mit.edu	37	X	139038671	139038671	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:139038671C>A	ENST00000370540.1	-	3	493	c.470G>T	c.(469-471)aGg>aTg	p.R157M		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	157	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ATATGATGGCCTAGTTAACTT	0.413000													118	55					2.55756e-57	4.94024e-57	1	1	0
WISP3	8838	broad.mit.edu	37	6	112386141	112386141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:112386141C>A	ENST00000361714.1	+	3	629	c.584C>A	c.(583-585)tCa>tAa	p.S195*	WISP3_ENST00000604763.1_Nonsense_Mutation_p.S177*|WISP3_ENST00000230529.5_Nonsense_Mutation_p.S177*|WISP3_ENST00000368666.2_Nonsense_Mutation_p.S177*|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Nonsense_Mutation_p.S154*			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	177					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTGATCAGTCAAACTGTAGC	0.478000													51	43					1.86633e-21	2.99852e-21	1	1	0
ALG9	79796	broad.mit.edu	37	11	111747634	111747634	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:111747634C>A	ENST00000524880.1	-	3	723	c.431G>T	c.(430-432)aGt>aTt	p.S144I	FDXACB1_ENST00000260257.4_Missense_Mutation_p.S144I|FDXACB1_ENST00000542429.1_5'UTR			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CACTTGCCAACTGTTGTGCCA	0.532000													12	16					4.36969e-10	5.51704e-10	1	1	0
HHAT	55733	broad.mit.edu	37	1	210536201	210536201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:210536201G>T	ENST00000367010.1	+	3	324	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	HHAT_ENST00000413764.2_Nonsense_Mutation_p.E33*|HHAT_ENST00000537898.1_Nonsense_Mutation_p.E33*|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000545154.1_Nonsense_Mutation_p.E34*|HHAT_ENST00000261458.3_Nonsense_Mutation_p.E33*|HHAT_ENST00000541565.1_Nonsense_Mutation_p.E33*|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000391905.3_Nonsense_Mutation_p.E33*	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCAGAACACGAAGAGGAGCT	0.398000													37	50					9.8876e-21	1.56997e-20	1	1	0
GTPBP1	9567	broad.mit.edu	37	22	39104848	39104848	+	Splice_Site	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:39104848A>T	ENST00000216044.5	+	2	425		c.e2-1			NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1						immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TTTCTTTTCTAGCTGGTTCTA	0.483000													17	15					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167000040	167000040	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:167000040A>T	ENST00000392766.2	-	19	2463	c.2123T>A	c.(2122-2124)cTg>cAg	p.L708Q	ZBBX_ENST00000392767.2_Missense_Mutation_p.L708Q|ZBBX_ENST00000307529.5_Missense_Mutation_p.L747Q|ZBBX_ENST00000455345.2_Missense_Mutation_p.L747Q|ZBBX_ENST00000392764.1_Missense_Mutation_p.L679Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	708						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAGAGATCTCAGCACTTGTAA	0.333000													35	19					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781863	3781863	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:3781863G>A	ENST00000262367.5	-	29	5613	c.4804C>T	c.(4804-4806)Cgc>Tgc	p.R1602C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1564C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1602	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ttgttggcgcggctgatgctg	0.537000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	84					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33455016	33455016	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:33455016C>A	ENST00000256261.4	-	2	535	c.18G>T	c.(16-18)tgG>tgT	p.W6C	DUSP26_ENST00000523956.1_Missense_Mutation_p.W6C	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	6						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		AAGCCCAAAGCCAGTTACCAG	0.562000													9	12					3.09899e-07	3.66047e-07	1	1	0
TSPAN11	441631	broad.mit.edu	37	12	31131514	31131514	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:31131514G>T	ENST00000261177.9	+	4	354	c.295G>T	c.(295-297)Gtc>Ttc	p.V99F	TSPAN11_ENST00000544427.1_Missense_Mutation_p.V89F|TSPAN11_ENST00000546076.1_Missense_Mutation_p.V99F|TSPAN11_ENST00000535215.1_Missense_Mutation_p.V28F	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	99						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCTGTTGCTCGTCATCTTCCT	0.547000													38	40					2.32173e-10	2.98698e-10	1	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130454753	130454753	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:130454753G>T	ENST00000529410.1	+	23	2602	c.2123G>T	c.(2122-2124)tGg>tTg	p.W708L	RP11-73O6.3_ENST00000591297.1_RNA|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.W683L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.W683L|RP11-73O6.3_ENST00000415964.1_RNA|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.W708L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.W683L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.W708L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	708	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GTTTCCAAATGGAGCACAGAC	0.473000													15	20					2.32078e-09	2.89778e-09	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166245204	166245204	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:166245204C>A	ENST00000375437.2	+	27	5178	c.4888C>A	c.(4888-4890)Ctt>Att	p.L1630I	SCN2A_ENST00000375427.2_Missense_Mutation_p.L1630I|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1630I|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1630I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1630					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGTGATCCGTCTTGCCAGGAT	0.433000													49	66					6.81593e-30	1.21291e-29	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321928	52321928	+	Silent	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:52321928C>G	ENST00000356297.4	-	17	2356	c.2256G>C	c.(2254-2256)ctG>ctC	p.L752L	PXDNL_ENST00000543296.1_Silent_p.L752L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	752					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGCTGCAGCAGGCGCGCGA	0.751000													18	25					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285414	152285414	+	Missense_Mutation	SNP	G	G	T	rs149119521		TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:152285414G>T	ENST00000368799.1	-	3	1983	c.1948C>A	c.(1948-1950)Cag>Aag	p.Q650K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	650	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q650K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTCCTGAGCAGATCCA	0.557000									Ichthyosis				154	390					3.42498e-63	6.65369e-63	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125591842	125591842	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:125591842C>T	ENST00000504087.1	-	4	3627	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E685K	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	864										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATAAGTGCTTCACATATCAAT	0.408000													30	90					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56473632	56473632	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:56473632T>C	ENST00000370754.5	-	39	5694	c.5695A>G	c.(5695-5697)Ata>Gta	p.I1899V	DST_ENST00000446842.2_Missense_Mutation_p.I1395V|DST_ENST00000370769.4_Missense_Mutation_p.I1721V|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.I1721V|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.I1721V			Q03001	DYST_HUMAN	dystonin	1721					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCATATCTATTAAAGAAACC	0.383000													40	22					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99931999	99931999	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:99931999C>A	ENST00000524871.1	+	10	1326	c.1036C>A	c.(1036-1038)Cgt>Agt	p.R346S	CNTN5_ENST00000527185.1_Missense_Mutation_p.R346S|CNTN5_ENST00000279463.3_Missense_Mutation_p.R346S|CNTN5_ENST00000418526.2_Missense_Mutation_p.R272S|CNTN5_ENST00000528682.1_Missense_Mutation_p.R346S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	346	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TAGTAAGGCACGTCTGCGGAA	0.433000													79	115					7.427e-35	1.34639e-34	1	1	0
MAP3K11	4296	broad.mit.edu	37	11	65365946	65365946	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:65365946C>A	ENST00000309100.3	-	10	2845	c.2360G>T	c.(2359-2361)cGg>cTg	p.R787L	MAP3K11_ENST00000530153.1_Missense_Mutation_p.R530L|MAP3K11_ENST00000532507.1_Missense_Mutation_p.R203L	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	787	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGAGAAGGCCGTGGCCCAGC	0.682000													20	28					2.37509e-13	3.20142e-13	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82763567	82763567	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:82763567C>A	ENST00000373200.2	+	1	299	c.235C>A	c.(235-237)Cag>Aag	p.Q79K	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	79					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CCTGGACCAGCAGGACGTGAA	0.652000													6	5					3.59834e-05	3.97341e-05	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52004599	52004599	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:52004599C>G	ENST00000291707.3	-	1	444	c.389G>C	c.(388-390)tGg>tCg	p.W130S		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	130	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTTATAATTCCATTTCATATT	0.488000													55	32					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801848	125801848	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:125801848C>A	ENST00000346248.5	-	4	1644	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	CHST15_ENST00000435907.1_Missense_Mutation_p.K334N|CHST15_ENST00000421115.1_Missense_Mutation_p.K334N	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	334					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						TGCTCTGCTCCTTTGCAGAGC	0.572000													13	56					0.00010058	0.000108588	1	1	0
GPR153	387509	broad.mit.edu	37	1	6314000	6314000	+	Silent	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:6314000C>A	ENST00000377893.2	-	3	823	c.564G>T	c.(562-564)gtG>gtT	p.V188V		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	188						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CTGTGCAGATCACGCCCATGG	0.687000													3	13					1	1	1	1	0
PREX2	80243	broad.mit.edu	37	8	69021814	69021814	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:69021814G>T	ENST00000288368.4	+	25	3379	c.3102G>T	c.(3100-3102)caG>caT	p.Q1034H		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1034					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAAACTTCAGACTGCACTGA	0.398000													35	177					2.52637e-11	3.28138e-11	1	1	0
MTFR2	113115	broad.mit.edu	37	6	136564102	136564102	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:136564102G>A	ENST00000420702.1	-	4	567	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	MTFR2_ENST00000451457.2_Missense_Mutation_p.L60F	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		GAGTTCAAGAGCGGGATCAAC	0.373000													14	34					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499282	52499282	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:52499282T>A	ENST00000371614.1	-	1	206	c.152A>T	c.(151-153)gAt>gTt	p.D51V	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000472624.1_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	51							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ACGGGCAGAATCGCCGTACAC	0.662000													26	29					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442617	20442617	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:20442617C>A	ENST00000331849.4	+	10	1429	c.1282C>A	c.(1282-1284)Ccc>Acc	p.P428T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	428					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCCACTCGGCCCTTCTGTTT	0.488000													36	69					3.76114e-14	5.20418e-14	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121680976	121680976	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:121680976T>A	ENST00000393386.2	+	21	6155	c.5744T>A	c.(5743-5745)gTg>gAg	p.V1915E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V1048E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1915	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTGACCTTTGTGAGAAAGGCA	0.537000													34	40					0	0	1	0	0
RPL37	6167	broad.mit.edu	37	5	40834631	40834631	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:40834631G>C	ENST00000274242.5	-	2	230	c.81C>G	c.(79-81)taC>taG	p.Y27*	RPL37_ENST00000509877.1_Nonsense_Mutation_p.Y27*|RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000508493.1_Nonsense_Mutation_p.Y27*	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	27					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				TCTGAAGGTGGTAGGCCTTAG	0.483000													16	73					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873368	36873368	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:36873368A>G	ENST00000429976.2	-	21	7821	c.7574T>C	c.(7573-7575)aTg>aCg	p.M2525T	TRANK1_ENST00000428977.2_Missense_Mutation_p.M1975T|TRANK1_ENST00000301807.6_Missense_Mutation_p.M1975T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2525					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATTCACTAGCATCACCAAGCA	0.522000													30	54					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947435	237947435	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:237947435C>A	ENST00000366574.2	+	90	12740	c.12423C>A	c.(12421-12423)agC>agA	p.S4141R	RYR2_ENST00000542537.1_Missense_Mutation_p.S4125R|RYR2_ENST00000360064.6_Missense_Mutation_p.S4147R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4141					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S4139S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGGGAAGCGCCAAACGCA	0.498000													77	57					4.09166e-32	7.30038e-32	1	1	0
BBS10	79738	broad.mit.edu	37	12	76741266	76741266	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:76741266T>A	ENST00000393262.3	-	2	582	c.499A>T	c.(499-501)Agg>Tgg	p.R167W		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	167					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAAGAGCTCCTACACAATGTT	0.353000									Bardet-Biedl syndrome				30	20					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159557998	159557998	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:159557998G>T	ENST00000255040.2	+	2	269	c.172G>T	c.(172-174)Gcc>Tcc	p.A58S		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	58	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GTGTTTTCGAGCCTATAGTGA	0.423000													74	68					1.52378e-38	2.82273e-38	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354080	45354080	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:45354080G>T	ENST00000359271.2	+	2	655	c.405G>T	c.(403-405)ctG>ctT	p.L135L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	135						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGGAGTGCTGGTGTCCCTCT	0.622000													49	74					4.64027e-19	7.16651e-19	1	1	0
ZNF844	284391	broad.mit.edu	37	19	12187167	12187167	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:12187167A>T	ENST00000439326.3	+	4	1407	c.1232A>T	c.(1231-1233)aAa>aTa	p.K411I	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						ACTATCATGAAAGGACTCACA	0.418000													18	36					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708444	12708444	+	Splice_Site	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:12708444A>G	ENST00000380682.1	+	8	1318	c.813_splice	c.e8+1	p.Q271_splice		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	271	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTCTAACTCAGGTCTGTGAA	0.483000													21	32					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483372	56483372	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:56483372C>A	ENST00000370765.6	-	23	5567	c.5460G>T	c.(5458-5460)atG>atT	p.M1820I	DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1231					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATTTGCTTCCATGTGCTGCC	0.408000													17	248					1.15088e-07	1.38105e-07	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700972	136700972	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:136700972C>A	ENST00000445907.2	+	3	1888	c.1360C>A	c.(1360-1362)Ctt>Att	p.L454I	AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.L454I|CHRM2_ENST00000320658.5_Missense_Mutation_p.L454I|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.L454I|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.L454I|CHRM2_ENST00000397608.3_Missense_Mutation_p.L454I|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	454					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTTTAAACACCTTCTCATGTG	0.408000													25	88					5.45024e-15	7.63484e-15	1	1	0
SPATC1	375686	broad.mit.edu	37	8	145096188	145096188	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:145096188C>A	ENST00000377470.3	+	4	1464	c.1362C>A	c.(1360-1362)gaC>gaA	p.D454E	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	454										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGCTGGACCGCAGGATCC	0.617000													15	18					0.00244969	0.00256707	1	1	0
FLYWCH1	84256	broad.mit.edu	37	16	2987316	2987316	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr16:2987316G>T	ENST00000399667.2	+	9	2218	c.1855G>T	c.(1855-1857)Gac>Tac	p.D619Y	FLYWCH1_ENST00000253928.9_Missense_Mutation_p.D570Y|FLYWCH1_ENST00000570752.1_3'UTR|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.D569Y			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	570						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CCACCCACCGGACCTGGGCGG	0.731000													5	16					1.23904e-05	1.38625e-05	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86907205	86907205	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:86907205C>A	ENST00000370565.4	+	9	1629	c.1467C>A	c.(1465-1467)gaC>gaA	p.D489E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	489					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAACTGGAGACATTTTCCAGC	0.383000													15	24					2.32078e-09	2.89778e-09	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1842969	1842969	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:1842969C>A	ENST00000399161.2	-	21	3779	c.3032G>T	c.(3031-3033)gGa>gTa	p.G1011V	MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Missense_Mutation_p.G7V|MYT1L_ENST00000428368.2_Missense_Mutation_p.G1009V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1011					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCGTCGCATCCTGGCGTGGG	0.667000													8	26					0.0381472	0.0390103	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020164	56020164	+	Silent	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:56020164A>G	ENST00000303059.3	+	1	489	c.489A>G	c.(487-489)tcA>tcG	p.S163S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCCTGTATTCAGTGAGCATGT	0.418000													126	233					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183274	167183274	+	Silent	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:167183274T>A	ENST00000476257.1	-	5	964	c.666A>T	c.(664-666)acA>acT	p.T222T	SERPINI2_ENST00000471111.1_Silent_p.T222T|SERPINI2_ENST00000461846.1_Silent_p.T222T|SERPINI2_ENST00000264677.4_Silent_p.T222T			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	222					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TACCATATTTTGTTCTCAGAA	0.323000													43	17					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144008085	144008085	+	Silent	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:144008085T>C	ENST00000295095.6	+	6	557	c.390T>C	c.(388-390)acT>acC	p.T130T		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	130	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TACAGAAAACTGGGCACAAAC	0.368000													6	36					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695467	30695467	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:30695467G>T	ENST00000256246.2	-	3	7258	c.7184C>A	c.(7183-7185)cCt>cAt	p.P2395H		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2395										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGTGAGCCAGGTAGTGATCT	0.383000													61	75					2.67592e-24	4.53569e-24	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33135284	33135284	+	Silent	SNP	C	C	A	rs139283268	byFrequency	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:33135284C>A	ENST00000341947.2	-	56	4268	c.4041G>T	c.(4039-4041)ccG>ccT	p.P1347P	COL11A2_ENST00000374714.1_Silent_p.P1321P|COL11A2_ENST00000357486.1_Silent_p.P1326P|COL11A2_ENST00000374712.1_Silent_p.P1266P|COL11A2_ENST00000361917.1_Silent_p.P1240P|COL11A2_ENST00000374708.4_Silent_p.P1261P|COL11A2_ENST00000374713.1_Silent_p.P1300P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.P1287P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1347	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTCTTCCCCGGGGCACCTA	0.637000													32	13					2.81731e-10	3.59049e-10	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141812786	141812786	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:141812786C>A	ENST00000389484.3	-	10	2422	c.1451G>T	c.(1450-1452)gGg>gTg	p.G484V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	484					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAACAGCCCCCTGGCATTCC	0.443000										TSP Lung(27;0.18)			28	16					1.77063e-15	2.52734e-15	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29587140	29587140	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:29587140C>T	ENST00000323874.8	+	7	979	c.869C>T	c.(868-870)gCg>gTg	p.A290V	PTPRU_ENST00000460170.2_Missense_Mutation_p.A290V|PTPRU_ENST00000373779.3_Missense_Mutation_p.A290V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A290V|PTPRU_ENST00000428026.2_Missense_Mutation_p.A290V|PTPRU_ENST00000345512.3_Missense_Mutation_p.A290V			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	290	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACTCCCATCGCGCCCCCACAG	0.637000													9	20					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310206	56310206	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:56310206G>T	ENST00000528616.2	-	1	551	c.528C>A	c.(526-528)ttC>ttA	p.F176L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CAGCACAGTAGAAGTGGTTGA	0.498000													15	33					0.000219431	0.000235031	1	1	0
DCLK1	9201	broad.mit.edu	37	13	36348777	36348777	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:36348777C>A	ENST00000360631.3	-	17	2329	c.2118G>T	c.(2116-2118)agG>agT	p.R706S	DCLK1_ENST00000379893.1_Missense_Mutation_p.R399S|DCLK1_ENST00000255448.4_3'UTR			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	706					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGTACCGGCTCCTCACATCCT	0.562000													6	4					3.59834e-05	3.97341e-05	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42855360	42855360	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr17:42855360G>T	ENST00000200557.6	+	24	2280	c.2111G>T	c.(2110-2112)tGg>tTg	p.W704L	ADAM11_ENST00000535346.1_Missense_Mutation_p.W504L	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	704	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CAGCCAGACTGGACAGGCAAA	0.612000													64	30					9.40535e-28	1.64776e-27	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86591212	86591212	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:86591212G>T	ENST00000370571.2	-	3	1173	c.807C>A	c.(805-807)ccC>ccA	p.P269P	COL24A1_ENST00000436319.1_Silent_p.P269P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	269					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTTGGGCGGGGGAGAGTGTT	0.398000													43	78					2.24893e-16	3.28616e-16	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70965815	70965815	+	Silent	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:70965815A>G	ENST00000334414.6	-	12	2939	c.2895T>C	c.(2893-2895)taT>taC	p.Y965Y	PTPRB_ENST00000551525.1_Silent_p.Y964Y|PTPRB_ENST00000550857.1_Silent_p.Y657Y|PTPRB_ENST00000261266.5_Silent_p.Y747Y|PTPRB_ENST00000550358.1_Silent_p.Y877Y|PTPRB_ENST00000451516.2_Silent_p.Y657Y|PTPRB_ENST00000538708.1_Silent_p.Y747Y	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	747	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATACCCTTAAATAGTCACTCC	0.398000													39	137					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	119					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139316875	139316875	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:139316875A>G	ENST00000280098.4	+	7	1061	c.682A>G	c.(682-684)Atg>Gtg	p.M228V		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	228	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTTTAACGCCATGTTTGAACA	0.284000													9	45					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654926	61654926	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:61654926G>A	ENST00000423902.2	+	2	1414	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	CHD7_ENST00000525508.1_Missense_Mutation_p.R312Q|CHD7_ENST00000524602.1_Missense_Mutation_p.R312Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	312					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGTATTCTCGATATCCTTAC	0.433000													60	170					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111903859	111903859	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:111903859C>A	ENST00000371968.3	-	3	716	c.477G>T	c.(475-477)caG>caT	p.Q159H	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	159						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CCTTACCTAACTGAAATTGAT	0.478000													85	34					1.3466e-33	2.42174e-33	1	1	0
CWC27	10283	broad.mit.edu	37	5	64079705	64079705	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:64079705G>T	ENST00000508024.1	+	4	496	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	CWC27_ENST00000381070.3_Missense_Mutation_p.V99F			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	99	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GAGAGGACTGGTTGCCATGGC	0.398000													115	74					4.64626e-59	9.00046e-59	1	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	4					0.00024832	0.000265554	1	1	0
PF4V1	5197	broad.mit.edu	37	4	74719530	74719530	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:74719530G>T	ENST00000226524.3	+	2	305	c.131G>T	c.(130-132)tGc>tTc	p.C44F		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	44					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GACCTGCAGTGCCTGTGTGTG	0.602000													13	7					7.03913e-09	8.67732e-09	1	1	0
SLC22A10	387775	broad.mit.edu	37	11	63065112	63065112	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:63065112T>A	ENST00000544661.1	+	5	706	c.278T>A	c.(277-279)cTg>cAg	p.L93Q	SLC22A10_ENST00000332793.6_Missense_Mutation_p.L248Q|SLC22A10_ENST00000535888.1_Missense_Mutation_p.L38Q|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	248						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGATAATCCTGGGAGGCTTG	0.453000													63	87					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr7:103276725G>A	ENST00000424685.2	-	18	2419	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_ENST00000343529.5_Missense_Mutation_p.R754W|RELN_ENST00000428762.1_Missense_Mutation_p.R754W			P78509	RELN_HUMAN	reelin	754					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443000													5	35					0	0	1	0	0
SLC25A6	293	broad.mit.edu	37	X	1508296	1508296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:1508296C>A	ENST00000381401.5	-	2	1150	c.436G>T	c.(436-438)Gga>Tga	p.G146*	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	146					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCTGACTTTCCCACGTCCGCT	0.667000													60	195					1.27334e-21	2.05553e-21	1	1	0
CLIP4	79745	broad.mit.edu	37	2	29404702	29404702	+	Silent	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:29404702G>C	ENST00000320081.5	+	16	2316	c.2061G>C	c.(2059-2061)ccG>ccC	p.P687P	CLIP4_ENST00000404424.1_Silent_p.P687P|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	687										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TAGTTCGACCGAGCAGAGTGA	0.418000													19	92					0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120241895	120241895	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr4:120241895C>A	ENST00000274024.3	-	2	457	c.170G>T	c.(169-171)cGa>cTa	p.R57L		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	57							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TTCAATGTTTCGAAAAGTGCT	0.338000													18	49					7.41877e-09	9.09571e-09	1	1	0
ALG10	84920	broad.mit.edu	37	12	34179850	34179850	+	Nonstop_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:34179850A>T	ENST00000266483.2	+	3	1741	c.1422A>T	c.(1420-1422)taA>taT	p.*474Y	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTATGTGGTAATATCAGTGAT	0.333000													20	128					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405750	1405750	+	Silent	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:1405750G>A	ENST00000381312.1	-	3	875	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	184	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTGAGTGCCAGCTCCGCCGCG	0.706000													4	9					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737569	248737569	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:248737569G>A	ENST00000328782.2	-	1	511	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L164I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGGGGTGAGCAACAAACCA	0.522000													11	82					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518074	84518074	+	RNA	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:84518074C>A	ENST00000331369.5	+	0	268																											AAAAGTATAGCGTGGCAACCC	0.512000													46	41					1.5731e-28	2.76312e-28	1	1	0
PLEC	5339	broad.mit.edu	37	8	145012369	145012369	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:145012369C>A	ENST00000322810.4	-	3	794	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	PLEC_ENST00000356346.3_Missense_Mutation_p.D58Y|PLEC_ENST00000354589.3_Missense_Mutation_p.D72Y|PLEC_ENST00000357649.2_Missense_Mutation_p.D76Y|PLEC_ENST00000354958.2_Missense_Mutation_p.D50Y|PLEC_ENST00000398774.2_Missense_Mutation_p.D40Y|PLEC_ENST00000345136.3_Missense_Mutation_p.D72Y|PLEC_ENST00000527096.1_Missense_Mutation_p.D99Y|PLEC_ENST00000436759.2_Missense_Mutation_p.D99Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	209	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGTGGCCATCGCGGAGGTCT	0.677000													8	3					1.58986e-06	1.84261e-06	1	1	0
HDC	3067	broad.mit.edu	37	15	50535440	50535440	+	Splice_Site	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:50535440C>A	ENST00000267845.3	-	11	1544	c.1140_splice	c.e11-1	p.G381_splice	HDC_ENST00000543581.1_Splice_Site_p.G348_splice	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	381					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATTTCAGTACCCTGGAATTG	0.403000													18	15					2.48551e-13	3.3436e-13	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215843708	215843708	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:215843708G>C	ENST00000272895.7	-	32	5016	c.4797C>G	c.(4795-4797)atC>atG	p.I1599M	ABCA12_ENST00000389661.4_Missense_Mutation_p.I1281M	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1599					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GATGTGATTGGATCATTGCTG	0.448000													17	67					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217252	21217252	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:21217252G>A	ENST00000380216.1	-	1	58	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	18					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGAACAGATGGATTTGTAGCT	0.488000													50	40					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115381756	115381756	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr10:115381756C>A	ENST00000369358.4	-	24	2909	c.2665G>T	c.(2665-2667)Gtg>Ttg	p.V889L	NRAP_ENST00000369360.3_Missense_Mutation_p.V854L|NRAP_ENST00000359988.3_Missense_Mutation_p.V881L|NRAP_ENST00000360478.3_Missense_Mutation_p.V846L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	881						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.V881M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGGCATGCACGAGGTGGACC	0.537000													61	36					2.44813e-32	4.37951e-32	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25442539	25442539	+	RNA	SNP	T	T	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:25442539T>A	ENST00000424208.1	+	0	1515				SNHG14_ENST00000456576.1_RNA	NR_003305.1																						ATGCTGACCCTGGAGGAAGAA	0.607000													14	11					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159162393	159162393	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:159162393G>T	ENST00000368125.4	+	3	412	c.255G>T	c.(253-255)ctG>ctT	p.L85L	CADM3_ENST00000368124.4_Silent_p.L119L	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	85	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GAATTCAGCTGGTTACCTCTA	0.517000													23	69					7.87624e-14	1.08099e-13	1	1	0
NEK11	79858	broad.mit.edu	37	3	131068597	131068597	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr3:131068597C>T	ENST00000383366.4	+	18	2208	c.1915C>T	c.(1915-1917)Cct>Tct	p.P639S	NEK11_ENST00000510769.1_Missense_Mutation_p.P534S|NEK11_ENST00000429253.2_Missense_Mutation_p.P639S|NEK11_ENST00000510688.1_3'UTR|NEK11_ENST00000412440.2_Missense_Mutation_p.P455S|RP11-933H2.4_ENST00000513905.1_RNA|NEK11_ENST00000508196.1_Missense_Mutation_p.P639S|RP11-933H2.4_ENST00000502521.1_RNA	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	639					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGGAAAAGAACCTACTCTCCA	0.413000													42	26					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522776	23522776	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:23522776C>A	ENST00000296682.3	+	8	846	c.664C>A	c.(664-666)Cct>Act	p.P222T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	222					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCATGGGCCCCCTACATTTGT	0.532000										HNSCC(3;0.000094)			45	32					2.00842e-17	2.99277e-17	1	1	0
C6orf165	154313	broad.mit.edu	37	6	88127998	88127998	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr6:88127998G>T	ENST00000507897.1	+	7	787	c.704G>T	c.(703-705)aGc>aTc	p.S235I	C6ORF165_ENST00000369562.4_Missense_Mutation_p.S235I			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	235										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTGCCCGGAGCCAGGTATAC	0.488000													12	59					2.80697e-09	3.47921e-09	1	1	0
CKAP2L	150468	broad.mit.edu	37	2	113514482	113514482	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:113514482C>A	ENST00000302450.6	-	4	544	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	156						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCCTTGATCTGTTAACTGC	0.353000													11	93					2.80697e-09	3.47921e-09	1	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140798910	140798910	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr5:140798910A>T	ENST00000398594.2	+	1	1484	c.1484A>T	c.(1483-1485)gAc>gTc	p.D495V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCAGCGACCTGGAGTCA	0.637000													38	29					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131235918	131235918	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:131235918C>T	ENST00000535026.1	+	6	629	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	ODF2_ENST00000303890.5_Silent_p.N223N|ODF2_ENST00000372814.3_Silent_p.N291N|ODF2_ENST00000546203.1_Silent_p.N228N|ODF2_ENST00000444119.2_Silent_p.N223N|ODF2_ENST00000434106.2_Silent_p.N247N|ODF2_ENST00000393533.2_Silent_p.N247N|ODF2_ENST00000372807.5_Silent_p.N242N|ODF2_ENST00000372796.4_Silent_p.N247N|ODF2_ENST00000448249.3_Silent_p.N166N|ODF2_ENST00000351030.3_Silent_p.N242N|ODF2_ENST00000372791.3_Silent_p.N228N			Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	0					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGGACATCAACACCCTGACAA	0.547000													7	41					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765214	184765214	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:184765214T>C	ENST00000367511.3	-	14	1877	c.1684A>G	c.(1684-1686)Atc>Gtc	p.I562V	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	562					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCTTCAAGATAGCAGCTTCC	0.423000													14	83					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156617	1156617	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:1156617G>T	ENST00000356191.2	+	10	626	c.626G>T	c.(625-627)tGg>tTg	p.W209L						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGGGCTCTGTGGGGACTTCAA	0.617000													32	17					1.61788e-16	2.36916e-16	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56572862	56572862	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:56572862G>T	ENST00000390649.3	+	15	3571	c.3571G>T	c.(3571-3573)Gat>Tat	p.D1191Y		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1191						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)		GCATTCTTTTGATGAAGATGA	0.488000													30	26					9.85521e-28	1.71769e-27	1	1	0
CPS1	1373	broad.mit.edu	37	2	211503931	211503931	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:211503931A>G	ENST00000233072.5	+	23	3083	c.2887A>G	c.(2887-2889)Aat>Gat	p.N963D	CPS1_ENST00000451903.2_Missense_Mutation_p.N512D|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.N969D	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	963					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGTTACCTACAATGGTCAGGT	0.333000													5	21					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960704	7960704	+	Silent	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:7960704G>T	ENST00000360759.3	-	1	437	c.364C>A	c.(364-366)Cga>Aga	p.R122R		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGCAAATCGGTCATAAGCC	0.403000													68	36					2.81305e-35	5.11326e-35	1	1	0
CRB1	23418	broad.mit.edu	37	1	197298052	197298052	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:197298052G>T	ENST00000367400.3	+	2	706	c.571G>T	c.(571-573)Gct>Tct	p.A191S	CRB1_ENST00000367399.2_Missense_Mutation_p.A191S|CRB1_ENST00000538660.1_Missense_Mutation_p.A191S|CRB1_ENST00000535699.1_Missense_Mutation_p.A122S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	191	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGATGAATGTGCTTCAGATCC	0.463000													18	57					6.49762e-13	8.67202e-13	1	1	0
CD53	963	broad.mit.edu	37	1	111435023	111435023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr1:111435023delC	ENST00000271324.5	+	3	232	c.120delC	c.(118-120)ttfs	p.F40fs	CD53_ENST00000429072.2_Frame_Shift_Del_p.F40fs	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	40					signal transduction	integral to membrane|plasma membrane		p.F40F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ACAACAACTTCGGAGTGCTCT	0.507													93	79	---	---	---	---					
SNTG2	54221	broad.mit.edu	37	2	1094073	1094073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:1094073delC	ENST00000308624.5	+	4	431	c.302delC	c.(301-303)tafs	p.S101fs	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	101	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTCGTCATATCAAAAATATTC	0.378													33	42	---	---	---	---					
KCNJ3	3760	broad.mit.edu	37	2	155711615	155711616	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:155711615_155711616insT	ENST00000295101.2	+	3	1773_1774	c.1296_1297insT	c.(1294-1299)gatgccfs	p.A433fs		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	433					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCTTGGGAGACTTGCCCATGAA	0.416													22	98	---	---	---	---					
DNAJB1P1	171221	broad.mit.edu	37	2	192746256	192746256	+	RNA	DEL	G	G	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr2:192746256delG	ENST00000424116.2	+	0	233																											CTCCTTCTTTGGGGAAGGTGA	0.458													8	81	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133883727	133883728	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:133883727_133883728insA	ENST00000220616.4	+	4	449_450	c.409_410insA	c.(409-411)gtgfs	p.V137fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.V137fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	137	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGCAGGTCCAGTGCTGGTGT	0.584													15	49	---	---	---	---					
CYP11B2	1585	broad.mit.edu	37	8	143999026	143999026	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr8:143999026delG	ENST00000323110.2	-	1	233	c.231delC	c.(229-231)ccfs	p.P77fs		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	77					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ACCTGAAAATGGGCCCCAGCT	0.632									Familial Hyperaldosteronism type I				9	42	---	---	---	---					
ZNF883	169834	broad.mit.edu	37	9	115759647	115759648	+	RNA	INS	-	-	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:115759647_115759648insA	ENST00000427548.1	-	0	2165_2166							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CAGTTTCTGACATTCATTACAT	0.376													75	53	---	---	---	---					
BRD3	8019	broad.mit.edu	37	9	136916702	136916703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr9:136916702_136916703insA	ENST00000303407.7	-	4	665_666	c.480_481insT	c.(478-483)gccgggfs	p.G161fs	BRD3_ENST00000357885.2_Frame_Shift_Ins_p.G161fs|BRD3_ENST00000371834.2_Frame_Shift_Ins_p.G161fs	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	161			A -> T (in a gastric adenocarcinoma sample; somatic mutation).			nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGGCTCCCGCAGCCGGCTTCC	0.584			T	C15orf55	lethal midline carcinoma of young people								14	13	---	---	---	---					
OR4A15	81328	broad.mit.edu	37	11	55135884	55135884	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr11:55135884delG	ENST00000314706.3	+	1	525	c.525delG	c.(523-525)gcfs	p.A176fs		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGCTGTTGGCGGCCTGGATTG	0.438													97	266	---	---	---	---					
TMTC1	83857	broad.mit.edu	37	12	29673648	29673648	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr12:29673648delC	ENST00000256062.5	-	12	1940	c.1467delG	c.(1465-1467)cgfs	p.R489fs	TMTC1_ENST00000552618.1_Frame_Shift_Del_p.R621fs|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000539277.1_Frame_Shift_Del_p.R597fs|TMTC1_ENST00000551659.1_Frame_Shift_Del_p.R659fs|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	597						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTTCTTTAAACCGCTCCTTTA	0.318													30	20	---	---	---	---					
POU4F1	5457	broad.mit.edu	37	13	79176598	79176598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr13:79176598delC	ENST00000377208.5	-	2	423	c.212delG	c.(211-213)gcfs	p.G71fs	RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	71					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		ATGGCTCTTGCCCTGGGACAC	0.677													7	3	---	---	---	---					
ADAM10	102	broad.mit.edu	37	15	58919911	58919912	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr15:58919911_58919912delTG	ENST00000260408.3	-	10	1790_1791	c.1347_1348delCA	c.(1345-1350)aaacfs	p.NN449fs	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Frame_Shift_Del_p.NN148fs|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	449	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ACAAAACAGTTGTTTCTCTTCT	0.322													7	55	---	---	---	---					
SIGLEC14	100049587	broad.mit.edu	37	19	52147118	52147119	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr19:52147118_52147119insT	ENST00000360844.6	-	5	966_967	c.925_926insA	c.(925-927)aggfs	p.R309fs	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	309	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCTAGCTCCTATGTTAGGCAGC	0.584													37	29	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	RNA	INS	-	-	T	rs149794923	by1000genomes	TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332					NR_046099.1																						ggaccgggaaacagatgcttac	0.569													5	6	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	148038070	148038070	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8279-01A-11D-2284-08	TCGA-86-8279-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eeb260b-a7b0-48de-babf-cade1a3ad1b7	5424f493-0b60-4180-ba08-7fe158efefaa	g.chrX:148038070delC	ENST00000370460.2	+	11	2974	c.2495delC	c.(2494-2496)gcfs	p.A832fs	AFF2_ENST00000286437.5_Frame_Shift_Del_p.A473fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.A799fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.A799fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	832					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGAGACTGCCACAAAACCC	0.527													28	20	---	---	---	---					
