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
GPC5	2262	broad.mit.edu	37	13	92560304	92560304	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:92560304T>C	ENST00000377067.3	+	6	1766	c.1394T>C	c.(1393-1395)gTt>gCt	p.V465A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	465						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGAAGCATGTTGTTCAGGTA	0.328000													13	43					0	0	0.000422831	0	0
MYH4	4622	broad.mit.edu	37	17	10355326	10355326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10355326C>T	ENST00000255381.2	-	27	3780	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1224					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						TCACTCTTTTCCTTCTCCAGC	0.498000													20	26					0	0	0.00152264	0	0
CYP2C18	1562	broad.mit.edu	37	10	96493144	96493144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96493144G>A	ENST00000285979.6	+	8	1439	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	CYP2C18_ENST00000339022.5_Missense_Mutation_p.D355N|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CCACTTTCTGGATAAGAGTGG	0.428000													22	28					0	0	0.00278032	0	0
SI	6476	broad.mit.edu	37	3	164777015	164777015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:164777015C>T	ENST00000264382.3	-	11	1281	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	407	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGAGGGAGTCCGTTAAACGCA	0.328000										HNSCC(35;0.089)			19	36					0	0	0.00074312	0	0
ZNF90	7643	broad.mit.edu	37	19	20229881	20229881	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:20229881G>A	ENST00000418063.2	+	4	1630	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	506						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACAGTGGAGAGAATCCCTACA	0.403000													5	15					0	0	0.000602214	0	0
MCHR2	84539	broad.mit.edu	37	6	100390994	100390994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:100390994G>A	ENST00000281806.2	-	4	732	c.418C>T	c.(418-420)Cga>Tga	p.R140*	MCHR2_ENST00000445970.1_Nonsense_Mutation_p.R140*|MCHR2_ENST00000369212.1_Nonsense_Mutation_p.R140*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	140						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R140*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CGTGTCAGTCGAAATGGTTGG	0.478000													34	70					0	0	0.000692331	0	0
ZNF99	7652	broad.mit.edu	37	19	22941261	22941261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22941261C>T	ENST00000397104.3	-	5	1176	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E484K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.368000													14	42					0	0	0.000308642	0	0
MDGA1	266727	broad.mit.edu	37	6	37631751	37631751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:37631751G>A	ENST00000434837.2	-	2	1377	c.199C>T	c.(199-201)Cga>Tga	p.R67*	MDGA1_ENST00000505425.1_Nonsense_Mutation_p.R67*|MDGA1_ENST00000297153.7_Nonsense_Mutation_p.R67*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	67	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.R67R(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCTGGGGTCGAGGGTGCCCT	0.602000													12	22					0	0	0.000978159	0	0
NELL1	4745	broad.mit.edu	37	11	21556021	21556021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:21556021G>A	ENST00000298925.5	+	17	1984	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	NELL1_ENST00000325319.5_Missense_Mutation_p.D526N|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.D583N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	583	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CGGTTTCCATGACGATGGGAC	0.527000													20	42					0	0	0.00047179	0	0
IFNW1	3467	broad.mit.edu	37	9	21141054	21141054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:21141054C>T	ENST00000380229.2	-	1	1090	c.516G>A	c.(514-516)atG>atA	p.M172I		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	172					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACAAGGATTTCATGATTTCCA	0.413000													21	33					0	0	0.000586117	0	0
ERC2	26059	broad.mit.edu	37	3	56044485	56044485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:56044485C>T	ENST00000288221.6	-	9	2167	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	638						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACCTCTTTCTCAGTCAGTTCA	0.408000													31	38					0	0	0.00058488	0	0
ZYX	7791	broad.mit.edu	37	7	143079425	143079425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143079425C>T	ENST00000322764.5	+	3	638	c.293C>T	c.(292-294)cCc>cTc	p.P98L	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000449423.2_Missense_Mutation_p.P42L	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	98	Pro-rich.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCGCCCCCTCCCCCGATCGAG	0.677000													8	23					0	0	0.000442599	0	0
SSH1	54434	broad.mit.edu	37	12	109182305	109182305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:109182305G>A	ENST00000326495.5	-	15	2702	c.2609C>T	c.(2608-2610)cCc>cTc	p.P870L	SSH1_ENST00000360239.3_Missense_Mutation_p.P558L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	870					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAACCAGGGGGCCCAGCTC	0.667000													15	31					0	0	0.000308642	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761883	77761883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77761883C>T	ENST00000521891.2	+	8	4229	c.3781C>T	c.(3781-3783)Ctc>Ttc	p.L1261F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1216F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1216F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1235F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAATGCATCTCCAACTGCA	0.493000										HNSCC(33;0.089)			9	35					0	0	0.000442599	0	0
PHTF1	10745	broad.mit.edu	37	1	114280739	114280739	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:114280739G>A	ENST00000369604.1	-	5	807	c.324C>T	c.(322-324)ttC>ttT	p.F108F	PHTF1_ENST00000357783.2_Silent_p.F108F|PHTF1_ENST00000393357.2_Silent_p.F108F|PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000447664.2_Silent_p.F108F|PHTF1_ENST00000369598.1_Silent_p.F108F|PHTF1_ENST00000369600.1_Intron			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	108						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTTGCATGAAATAAAGTA	0.343000													9	37					0	0	0.000978159	0	0
NAIF1	203245	broad.mit.edu	37	9	130828896	130828896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130828896G>A	ENST00000373078.4	-	1	704	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	162					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTGGCTGCGGCTGCGGTGGC	0.657000													20	20					0	0	0.00188189	0	0
STARD3NL	83930	broad.mit.edu	37	7	38259190	38259190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:38259190C>T	ENST00000009041.7	+	7	835	c.578C>T	c.(577-579)tCa>tTa	p.S193L	STARD3NL_ENST00000434197.1_Missense_Mutation_p.S175L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.S186L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.S193L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	193	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CAGGATGCTTCAGAGAGGGCA	0.408000													52	96					0	0	0.000781405	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967226	142967226	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:142967226C>T	ENST00000370494.1	+	1	54	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	8							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)					CCCACAGGATCATCAAGGAAA	0.458000													33	30					0	0	0.000953801	0	0
FAF1	11124	broad.mit.edu	37	1	51032830	51032830	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:51032830C>A	ENST00000396153.2	-	13	1638	c.1187G>T	c.(1186-1188)tGt>tTt	p.C396F	FAF1_ENST00000545823.1_Missense_Mutation_p.C154F|FAF1_ENST00000371778.4_Missense_Mutation_p.C396F|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	396					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GGATTCAGCACAAAGCATTTG	0.393000													19	68					1.67942e-08	6.53693e-08	0.00074312	1	0
APOBEC3C	27350	broad.mit.edu	37	22	39411611	39411611	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:39411611A>G	ENST00000361441.3	+	2	309	c.29A>G	c.(28-30)aAg>aGg	p.K10R	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	10					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					AACCCGATGAAGGCAATGTAT	0.517000													28	53					0	0	0.0024448	0	0
BMP10	27302	broad.mit.edu	37	2	69093694	69093694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:69093694G>A	ENST00000295379.1	-	2	502	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	115					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GACCGGCTGGGAAAACAGATC	0.428000													4	23					0	0	0.000602214	0	0
PEX5	5830	broad.mit.edu	37	12	7361653	7361653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7361653C>T	ENST00000266563.5	+	13	1519	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	PEX5_ENST00000412720.2_Missense_Mutation_p.P504S|PEX5_ENST00000266564.3_Missense_Mutation_p.P475S|PEX5_ENST00000434354.2_Missense_Mutation_p.P498S|PEX5_ENST00000420616.2_Missense_Mutation_p.P483S|PEX5_ENST00000455147.2_Missense_Mutation_p.P483S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	483					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCGGCTGGACCCTACCTCCAT	0.507000													38	70					0	0	0.00128727	0	0
SHANK2	22941	broad.mit.edu	37	11	70333553	70333553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:70333553C>T	ENST00000338508.4	-	32	2847	c.2848G>A	c.(2848-2850)Ggg>Agg	p.G950R	SHANK2_ENST00000423696.2_Missense_Mutation_p.G570R|SHANK2_ENST00000449833.2_Missense_Mutation_p.G354R|SHANK2_ENST00000409161.1_Missense_Mutation_p.G353R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	570					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAGTACATCCCCTTCTCCCTC	0.582000													11	12					0	0	0.00136819	0	0
ZNF121	7675	broad.mit.edu	37	19	9676819	9676819	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9676819A>C	ENST00000586602.1	-	6	1386	c.970T>G	c.(970-972)Tct>Gct	p.S324A	ZNF121_ENST00000320451.6_Missense_Mutation_p.S324A			P58317	ZN121_HUMAN	zinc finger protein 121	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGTTGTGAAGATGTAGCAAAG	0.393000													25	38					0	0	0.00047179	0	0
MECOM	2122	broad.mit.edu	37	3	168845701	168845701	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:168845701T>A	ENST00000464456.1	-	4	1397	c.197A>T	c.(196-198)aAt>aTt	p.N66I	MECOM_ENST00000433243.2_Missense_Mutation_p.N66I|MECOM_ENST00000472280.1_Missense_Mutation_p.N66I|MECOM_ENST00000468789.1_Missense_Mutation_p.N66I|MECOM_ENST00000392736.3_Missense_Mutation_p.N66I|MECOM_ENST00000494292.1_Missense_Mutation_p.N254I|MECOM_ENST00000460814.1_Missense_Mutation_p.N66I|MECOM_ENST00000264674.3_Missense_Mutation_p.N130I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGGAGATCATTCTCGCTTTC	0.413000													39	118					0	0	0.00222228	0	0
ADCY8	114	broad.mit.edu	37	8	131880124	131880124	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131880124G>A	ENST00000286355.5	-	9	4270	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	726					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTATTGCCGTGATAAATAGAA	0.348000										HNSCC(32;0.087)			19	40					0	0	0.00188189	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:58722338C>T	ENST00000300079.5	+	5	425	c.375C>T	c.(373-375)atC>atT	p.I125I	GLYATL1_ENST00000317391.4_Silent_p.I94I|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	94						mitochondrion	glycine N-acyltransferase activity	p.I125I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATTGTGAGATCGTAAACTGGA	0.393000													8	19					0	0	0.000157383	0	0
FOXB1	27023	broad.mit.edu	37	15	60297305	60297305	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:60297305C>A	ENST00000396057.4	+	2	622	c.143C>A	c.(142-144)cCc>cAc	p.P48H	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	48					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GACCGCTTCCCCTACTACAGG	0.592000													22	30					2.37509e-13	9.27548e-13	0.00152264	1	0
ZNF492	57615	broad.mit.edu	37	19	22846700	22846700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22846700G>A	ENST00000456783.2	+	4	473	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATGTGGATGTGAAAATTTACA	0.348000													11	27					0	0	0.000978159	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390383	38390383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:38390383G>A	ENST00000329553.2	+	4	659	c.449G>A	c.(448-450)gGa>gAa	p.G150E	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GGCCCAGGGGGAAAGGGCAGA	0.637000													11	21					0	0	0.000978159	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135976	40135976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:40135976C>T	ENST00000278198.2	-	2	3830	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.E623K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E623K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E623K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	623					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)				AATAACGGTTCATGCACTGAA	0.328000													27	53					0	0	0.00106085	0	0
DGKZ	8525	broad.mit.edu	37	11	46397925	46397925	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:46397925C>T	ENST00000454345.1	+	24	2828	c.2703C>T	c.(2701-2703)tcC>tcT	p.S901S	DGKZ_ENST00000395574.3_Silent_p.S679S|DGKZ_ENST00000543978.1_Silent_p.S65S|DGKZ_ENST00000532868.2_Silent_p.S717S|DGKZ_ENST00000456247.2_Silent_p.S712S|DGKZ_ENST00000318201.8_Silent_p.S690S|DGKZ_ENST00000527911.1_Silent_p.S713S|DGKZ_ENST00000528615.1_Silent_p.S491S|DGKZ_ENST00000421244.2_Silent_p.S713S|DGKZ_ENST00000343674.6_Silent_p.S729S	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	901					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGAAACTGTCCCCCAAGTGGT	0.617000													36	87					0	0	0.00195071	0	0
SCN7A	6332	broad.mit.edu	37	2	167322343	167322343	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:167322343C>T	ENST00000409855.1	-	7	945	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	273					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						CATTTTCATTCTCTTGGGGCC	0.363000													35	83					0	0	0.00170553	0	0
GABRB1	2560	broad.mit.edu	37	4	47427918	47427918	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:47427918C>T	ENST00000295454.3	+	9	1600	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	GABRB1_ENST00000538619.1_Silent_p.L366L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	436					synaptic transmission	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(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTCCCAGCTCAAAGTCAAGA	0.582000													31	55					0	0	0.001512	0	0
DNAH8	1769	broad.mit.edu	37	6	38757653	38757653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38757653G>A	ENST00000359357.3	+	17	2261	c.2007G>A	c.(2005-2007)atG>atA	p.M669I	DNAH8_ENST00000441566.1_Missense_Mutation_p.M669I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M886I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCCAAAAATGAAAAAGGTTG	0.338000													17	57					0	0	0.00121646	0	0
OR2J3	442186	broad.mit.edu	37	6	29080598	29080598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29080598G>A	ENST00000377169.1	+	1	931	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AATGGGGTGGGAATGAGCCTG	0.393000													11	34					0	0	0.00136819	0	0
CRYGC	1420	broad.mit.edu	37	2	208993004	208993004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:208993004C>T	ENST00000282141.3	-	3	485	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	150	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGCCTGTACTCTTGGGGCCTC	0.582000													29	56					0	0	0.001512	0	0
SI	6476	broad.mit.edu	37	3	164737539	164737539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:164737539C>T	ENST00000264382.3	-	28	3336	c.3274G>A	c.(3274-3276)Gga>Aga	p.G1092R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1092	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAGCAAATCCAGGCAGCCAA	0.353000										HNSCC(35;0.089)			16	37					0	0	0.000566183	0	0
IL4R	3566	broad.mit.edu	37	16	27363934	27363934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:27363934C>T	ENST00000395762.2	+	7	846	c.587C>T	c.(586-588)tCc>tTc	p.S196F	IL4R_ENST00000380922.3_Missense_Mutation_p.S181F|IL4R_ENST00000543915.2_Missense_Mutation_p.S196F|IL4R_ENST00000170630.2_Missense_Mutation_p.S196F|IL4R_ENST00000449195.1_Missense_Mutation_p.S196F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	196	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S196F(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCTGGGATTTCCTACAGGGCA	0.557000													27	76					0	0	0.0024448	0	0
HRNR	388697	broad.mit.edu	37	1	152188325	152188325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152188325C>T	ENST00000368801.2	-	3	5855	c.5780G>A	c.(5779-5781)gGg>gAg	p.G1927E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1927					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCAGACCCATGCTGACC	0.582000													51	451					0	0	0.000781405	0	0
DAPK2	23604	broad.mit.edu	37	15	64218270	64218270	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:64218270G>A	ENST00000261891.3	-	7	687	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	DAPK2_ENST00000457488.1_Silent_p.L228L|DAPK2_ENST00000558069.1_Silent_p.L228L			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	228	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GTGTCTCCCAGGAAAGGGGAT	0.502000													45	29					0	0	0.000781405	0	0
OBSL1	23363	broad.mit.edu	37	2	220429980	220429980	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:220429980G>A	ENST00000404537.1	-	6	2447	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	OBSL1_ENST00000603926.1_Silent_p.F797F|OBSL1_ENST00000265318.4_Silent_p.F797F|OBSL1_ENST00000373873.4_Silent_p.F797F|OBSL1_ENST00000289656.3_Silent_p.F384F|OBSL1_ENST00000373876.1_Silent_p.F797F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	797	Ig-like 5.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGTGACGCCGAAGAAGGCCG	0.602000													4	7					0	0	0.00024832	0	0
CANT1	124583	broad.mit.edu	37	17	76993539	76993539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76993539G>A	ENST00000302345.2	-	2	660	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	CANT1_ENST00000392446.5_Missense_Mutation_p.L56F|CANT1_ENST00000591773.1_Missense_Mutation_p.L56F	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	56					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGCAGCCAGAGGATGGCAGCA	0.692000			T	ETV4	prostate								8	8					0	0	0.000274275	0	0
JAZF1	221895	broad.mit.edu	37	7	27880446	27880446	+	Silent	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:27880446C>A	ENST00000283928.5	-	4	591	c.426G>T	c.(424-426)tcG>tcT	p.S142S	JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_3'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	142					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CATCGCTGTCCGACTCCTCAT	0.577000			T	SUZ12	endometrial stromal tumours								9	441					0.000978159	0.00378232	0.000978159	1	0
TUBA3C	7278	broad.mit.edu	37	13	19752519	19752519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:19752519C>T	ENST00000400113.3	-	3	346	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	81					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTATAGGTTCCTGTGCGCAC	0.488000													45	59					0	0	0.000781405	0	0
CREBBP	1387	broad.mit.edu	37	16	3779649	3779649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:3779649C>T	ENST00000262367.5	-	31	6208	c.5399G>A	c.(5398-5400)cGg>cAg	p.R1800Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1762Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1800	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)		CTGCACCACCCGCTTCATCTT	0.652000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						19	30					0	0	0.00074312	0	0
MYL3	4634	broad.mit.edu	37	3	46904857	46904857	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:46904857G>A	ENST00000395869.1	-	1	75	c.24C>T	c.(22-24)ccC>ccT	p.P8P	MYL3_ENST00000292327.4_Silent_p.P8P			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	8					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CATCCTTCTTGGGCTCTGGCT	0.602000													8	12					0	0	0.000157383	0	0
MYO3B	140469	broad.mit.edu	37	2	171092559	171092559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:171092559C>T	ENST00000334231.6	+	7	689	c.689C>T	c.(688-690)tCc>tTc	p.S230F	MYO3B_ENST00000408978.4_Missense_Mutation_p.S221F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S221F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	221	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GACGTCTGGTCCTTGGGGATC	0.493000											OREG0014376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	66					0	0	0.000878237	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735767	55735767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55735767G>A	ENST00000312345.2	-	1	223	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCCAAAAGGGAAAAATTGCT	0.348000													20	40					0	0	0.00152264	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113223516	113223516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113223516G>A	ENST00000261965.3	-	2	320	c.134C>T	c.(133-135)cCa>cTa	p.P45L	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.P45L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	45					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTCAACAGTTGGGGCGAAGTT	0.418000													21	65					0	0	0.000586117	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785560	209785560	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:209785560C>T	ENST00000009105.1	+	11	1584	c.1340_splice	c.e11+1	p.Q447_splice	CAMK1G_ENST00000361322.2_Splice_Site_p.Q447_splice			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	447						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CAACAAAAAACAGTACGTATT	0.507000													8	30					0	0	0.000442599	0	0
ACOT12	134526	broad.mit.edu	37	5	80628307	80628307	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:80628307G>A	ENST00000307624.3	-	13	1408	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	460	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CATCTTTGAGGGGTTTTCTTC	0.368000													20	42					0	0	0.00229938	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445337	87445337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:87445337G>A	ENST00000268616.4	-	12	2796	c.2579C>T	c.(2578-2580)cCa>cTa	p.P860L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	860					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GACAGGGTCTGGGGTCCCGCT	0.657000													7	10					0	0	0.000157383	0	0
SMARCA1	6594	broad.mit.edu	37	X	128645872	128645872	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:128645872G>T	ENST00000371122.4	-	6	848	c.719C>A	c.(718-720)cCa>cAa	p.P240Q	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Missense_Mutation_p.P240Q|SMARCA1_ENST00000371121.3_Missense_Mutation_p.P240Q	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	240	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AGTAGACTTTGGAACTAAAAC	0.413000													7	182					0.00198382	0.00762708	0.00198382	1	0
SLC19A2	10560	broad.mit.edu	37	1	169439219	169439219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:169439219G>A	ENST00000236137.5	-	3	1249	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	SLC19A2_ENST00000367802.3_Missense_Mutation_p.A300V|SLC19A2_ENST00000367804.3_Missense_Mutation_p.A137V	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	338					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GGTTGAAACGGCCTCCACGCC	0.483000													38	66					0	0	0.000781405	0	0
WDTC1	23038	broad.mit.edu	37	1	27618754	27618754	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27618754C>T	ENST00000319394.3	+	7	1063	c.528C>T	c.(526-528)gaC>gaT	p.D176D	WDTC1_ENST00000361771.3_Silent_p.D176D	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	176							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGCTGATTGACCTGACAGAGT	0.577000													15	68					0	0	0.000422831	0	0
AUTS2	26053	broad.mit.edu	37	7	70255516	70255516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:70255516C>T	ENST00000342771.4	+	19	3635	c.3314C>T	c.(3313-3315)tCg>tTg	p.S1105L	AUTS2_ENST00000406775.2_Missense_Mutation_p.S1081L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1105										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CACCGGCTCTCGACTCCCCGG	0.647000													6	7					0	0	0.00198382	0	0
OR7G3	390883	broad.mit.edu	37	19	9237101	9237101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9237101G>A	ENST00000305444.2	-	1	525	c.526C>T	c.(526-528)Cac>Tac	p.H176Y		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CAGAAAAAGTGGGGAATTTCC	0.483000													16	50					0	0	0.000308642	0	0
RDH13	112724	broad.mit.edu	37	19	55556545	55556545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55556545G>A	ENST00000396247.3	-	8	1152	c.680C>T	c.(679-681)cCc>cTc	p.P227L	RDH13_ENST00000415061.3_Missense_Mutation_p.P298L|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	298							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CTCAGCCTCGGGGGCCGGGGC	0.657000													21	32					0	0	0.00152264	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274324	103274324	+	Silent	SNP	C	C	T	rs139722927		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:103274324C>T	ENST00000233969.2	+	2	733	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	197						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCGAAGCATTCGGCCTCAGCG	0.488000													66	175					0	0	0.000781405	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726220	168726220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168726220G>A	ENST00000305861.1	+	2	1022	c.671G>A	c.(670-672)aGg>aAg	p.R224K	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R224K|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	224					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TATATGCCCAGGGATTTGTAC	0.478000													20	43					0	0	0.00188189	0	0
KCNA4	3739	broad.mit.edu	37	11	30032434	30032434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:30032434G>A	ENST00000328224.6	-	2	3025	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	598						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R598W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GTAGAGCTCCGAAATTTCTTG	0.458000													9	23					0	0	0.000274275	0	0
FREM2	341640	broad.mit.edu	37	13	39450237	39450237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:39450237C>T	ENST00000280481.7	+	19	8576	c.8360C>T	c.(8359-8361)cCa>cTa	p.P2787L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2787					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)		AGGAGTGAACCAACCTATAAC	0.443000													49	124					0	0	0.000781405	0	0
IFNL1	282618	broad.mit.edu	37	19	39787498	39787498	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:39787498G>A	ENST00000333625.2	+	2	322	c.225G>A	c.(223-225)ggG>ggA	p.G75G		NM_172140.1	NP_742152.1			interferon, lambda 1																		TCTTCCCCGGGAATTGGGACC	0.577000													28	58					0	0	0.00209593	0	0
LILRA1	11024	broad.mit.edu	37	19	55106793	55106793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55106793G>A	ENST00000453777.1	+	5	757	c.587G>A	c.(586-588)aGg>aAg	p.R196K	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R196K|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	196	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTCGTACAGGTGCTATGCT	0.582000													31	90					0	0	0.00283554	0	0
TCERG1	10915	broad.mit.edu	37	5	145886679	145886679	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:145886679A>G	ENST00000296702.5	+	19	2857	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G	TCERG1_ENST00000394421.2_Missense_Mutation_p.E919G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	940	FF 4.				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)			TTGGAAAGAGAGGAGAAAGAG	0.413000													32	87					0	0	0.00283554	0	0
AACS	65985	broad.mit.edu	37	12	125609554	125609554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:125609554C>T	ENST00000545511.1	+	2	5019	c.32C>T	c.(31-33)tCc>tTc	p.S11F	AACS_ENST00000316543.10_Silent_p.L29L|AACS_ENST00000316519.6_Silent_p.L431L|AACS_ENST00000261686.6_Silent_p.L431L			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAGCATCCTCCTGGGCTCCA	0.592000													22	67					0	0	0.00047179	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95204435	95204435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:95204435C>T	ENST00000354268.4	+	22	2963	c.2890C>T	c.(2890-2892)Cat>Tat	p.H964Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.H966Y|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.H534Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	964	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGATAGATGCCATAGAGTAGG	0.338000													11	45					0	0	0.00185496	0	0
LONRF2	164832	broad.mit.edu	37	2	100919445	100919445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:100919445C>T	ENST00000393437.3	-	3	1498	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E44K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	287					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TAGAGAAATTCCTTTAACACT	0.393000													24	64					0	0	0.00278032	0	0
CXorf22	170063	broad.mit.edu	37	X	35993901	35993901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:35993901G>A	ENST00000297866.5	+	15	2650	c.2584G>A	c.(2584-2586)Ggc>Agc	p.G862S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	862										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGACCACGAGGCTTCTTCAT	0.443000													51	39					0	0	0.000781405	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307674	39307674	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39307674G>A	ENST00000541347.1	-	2	566	c.327C>T	c.(325-327)ttC>ttT	p.F109F	CX3CR1_ENST00000358309.3_Silent_p.F141F|CX3CR1_ENST00000399220.2_Silent_p.F109F|CX3CR1_ENST00000542107.1_Silent_p.F109F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	109					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGCCGATGAAGAAGAAGGCGG	0.483000													20	24					0	0	0.00152264	0	0
SPEF2	79925	broad.mit.edu	37	5	35814624	35814624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35814624C>T	ENST00000356031.3	+	37	5592	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	SPEF2_ENST00000303129.4_Missense_Mutation_p.S610L|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1813					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGAGAGATCACCTTCAAGA	0.303000													20	55					0	0	0.00152264	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132680	91132680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:91132680C>T	ENST00000373094.1	+	2	2286	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P481S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P481S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P481S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P481S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	481	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATAACTCTCCTGGCATCCA	0.438000													23	19					0	0	0.00106085	0	0
DACH2	117154	broad.mit.edu	37	X	86069749	86069749	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:86069749C>T	ENST00000373131.1	+	9	1720	c.1557C>T	c.(1555-1557)gcC>gcT	p.A519A	DACH2_ENST00000510272.1_Silent_p.A313A|DACH2_ENST00000508860.1_Silent_p.A365A|DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Silent_p.A532A	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	532	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGCAGGAAGCCTTGGAATTTG	0.433000													23	18					0	0	0.00188189	0	0
TBC1D1	23216	broad.mit.edu	37	4	38126669	38126669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38126669G>A	ENST00000261439.4	+	18	3404	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1017						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCTGCAGCATGAAAACCTAGA	0.403000													24	64					0	0	0.00047179	0	0
OPRK1	4986	broad.mit.edu	37	8	54142226	54142226	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:54142226G>A	ENST00000265572.3	-	4	1071	c.774C>T	c.(772-774)ctC>ctT	p.L258L	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.L258L|OPRK1_ENST00000524278.1_Silent_p.L169L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	258					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCCAGAAAGGAGCCGGACGC	0.547000													13	39					0	0	0.00244969	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989511	121989511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:121989511G>A	ENST00000263707.5	-	13	1329	c.1232C>T	c.(1231-1233)aCc>aTc	p.T411I		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	411					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAGCTCCAAGGTGGTCAGCTC	0.602000													19	57					0	0	0.00229938	0	0
PLCB1	23236	broad.mit.edu	37	20	8637904	8637904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:8637904C>T	ENST00000378641.3	+	8	1143	c.668C>T	c.(667-669)cCt>cTt	p.P223L	PLCB1_ENST00000378637.2_Missense_Mutation_p.P223L|PLCB1_ENST00000338037.6_Missense_Mutation_p.P223L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	223					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						TGCCCTCGACCTGAAATTGAT	0.393000													29	59					0	0	0.00209593	0	0
MSR1	4481	broad.mit.edu	37	8	16026357	16026357	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:16026357C>T	ENST00000350896.3	-	4	437	c.240G>A	c.(238-240)acG>acA	p.T80T	MSR1_ENST00000381998.4_Silent_p.T80T|MSR1_ENST00000355282.2_Silent_p.T80T|MSR1_ENST00000445506.2_Silent_p.T98T|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Silent_p.T80T	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	80	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGCAATTCTTCGTTTCCCACT	0.383000													24	59					0	0	0.00278032	0	0
ABCC3	8714	broad.mit.edu	37	17	48768473	48768473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48768473G>A	ENST00000285238.8	+	31	4576	c.4496G>A	c.(4495-4497)gGa>gAa	p.G1499E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1499	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGGACAAAGGAGTAGTAGCT	0.488000													25	30					0	0	0.000586117	0	0
F13B	2165	broad.mit.edu	37	1	197009727	197009727	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197009727T>C	ENST00000367412.1	-	11	1920	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	626	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCCAGTAATATATAATTCAGC	0.313000													28	54					0	0	0.00283554	0	0
CLECL1	160365	broad.mit.edu	37	12	9885732	9885732	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9885732C>T	ENST00000327839.3	-	1	163	c.129G>A	c.(127-129)agG>agA	p.R43R		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	43						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGGCAAATTTCCTTCTGCTCC	0.388000													15	43					0	0	0.000308642	0	0
GPR107	57720	broad.mit.edu	37	9	132890960	132890960	+	Silent	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:132890960G>T	ENST00000372406.1	+	19	2133	c.1626G>T	c.(1624-1626)acG>acT	p.T542T	GPR107_ENST00000372410.3_Silent_p.T513T|GPR107_ENST00000347136.6_Silent_p.T494T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	542						integral to membrane		p.T494T(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTGTTCTAACGGGGTATAAAT	0.433000													8	213					0.000673444	0.0026062	0.000673444	1	0
AXDND1	126859	broad.mit.edu	37	1	179460692	179460692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179460692C>T	ENST00000367618.3	+	19	2498	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	704										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						TTACATATATCTATGATCCAG	0.318000													16	39					0	0	0.00074312	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074913	143074913	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:143074913G>A	ENST00000367603.2	-	10	7414	c.6672C>T	c.(6670-6672)gcC>gcT	p.A2224A	HIVEP2_ENST00000367604.1_Silent_p.A2224A|HIVEP2_ENST00000012134.2_Silent_p.A2224A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGGGATAGGGGCTCGCACTT	0.542000													32	63					0	0	0.00283554	0	0
COBL	23242	broad.mit.edu	37	7	51095984	51095984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:51095984G>A	ENST00000395542.2	-	12	3239	c.3055C>T	c.(3055-3057)Ccc>Tcc	p.P1019S	COBL_ENST00000265136.7_Missense_Mutation_p.P937S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	937										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGTTGTTGGGAGGAGTGACA	0.577000													14	27					0	0	0.000422831	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765453	18765453	+	Silent	SNP	C	C	T	rs151116969		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:18765453C>T	ENST00000304081.4	-	5	892	c.792G>A	c.(790-792)agG>agA	p.R264R	NT5C1B_ENST00000359846.2_Silent_p.R324R|NT5C1B_ENST00000600945.1_Silent_p.R324R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R324R	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB									p.R324R(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGTAGATTTTCCTGCCGTCCA	0.562000													38	90					0	0	0.00222228	0	0
THADA	63892	broad.mit.edu	37	2	43800110	43800110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:43800110G>A	ENST00000403856.1	-	13	1898	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	THADA_ENST00000402360.2_Missense_Mutation_p.S584F|THADA_ENST00000415080.2_Missense_Mutation_p.S294F|THADA_ENST00000330266.7_Missense_Mutation_p.S294F|THADA_ENST00000404790.1_Missense_Mutation_p.S584F|THADA_ENST00000405975.2_Missense_Mutation_p.S584F|THADA_ENST00000405006.4_Missense_Mutation_p.S584F			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	584							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGACCCTAAGGATGGGAAAGA	0.428000													82	213					0	0	0.000781405	0	0
OR5M11	219487	broad.mit.edu	37	11	56310629	56310629	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56310629G>A	ENST00000528616.2	-	1	128	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GGGTGACGAGGTAAACAACCA	0.473000													36	41					0	0	0.000814825	0	0
OTUD7A	161725	broad.mit.edu	37	15	31793992	31793992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:31793992G>A	ENST00000382902.1	-	8	1164	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	OTUD7A_ENST00000307050.4_Missense_Mutation_p.P351S			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	351	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CATCTGTTGGGAGGGACCTCC	0.577000													21	18					0	0	0.00188189	0	0
KANK3	256949	broad.mit.edu	37	19	8399516	8399516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8399516C>T	ENST00000330915.3	-	3	1260	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	KANK3_ENST00000593649.1_Missense_Mutation_p.E399K	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	399										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GTGGTGGCCTCGCGTAGCTGG	0.741000													3	4					0	0	6.4e-05	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101782	46101782	+	Missense_Mutation	SNP	C	C	T	rs138110019		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:46101782C>T	ENST00000391617.1	-	1	296	c.257G>A	c.(256-258)aGa>aAa	p.R86K	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	86	14 X 5 AA approximate repeats.					keratin filament		p.R86K(1)		kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGAGATGGGTCTGCAGAGGAC	0.637000													8	39					0	0	0.000157383	0	0
OR7D4	125958	broad.mit.edu	37	19	9324745	9324745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9324745C>T	ENST00000308682.2	-	1	797	c.769G>A	c.(769-771)Ggg>Agg	p.G257R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGATAGACCCCAAGTCCTGTT	0.527000													13	20					0	0	0.00185496	0	0
LRP1B	53353	broad.mit.edu	37	2	141665489	141665489	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:141665489C>T	ENST00000389484.3	-	22	4448	c.3477G>A	c.(3475-3477)ggG>ggA	p.G1159G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1159	LDL-receptor class A 10.				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)		AATCCTTTTTCCCATTGCAGA	0.443000										TSP Lung(27;0.18)			57	134					0	0	0.000781405	0	0
MED12L	116931	broad.mit.edu	37	3	151105774	151105774	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151105774C>T	ENST00000474524.1	+	35	5198	c.5160C>T	c.(5158-5160)ccC>ccT	p.P1720P	MED12L_ENST00000273432.4_Silent_p.P1580P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1720					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCCAAGCCCCGCAGTTACT	0.587000													8	22					0	0	0.000157383	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565576	11565576	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:11565576T>C	ENST00000359227.3	-	7	1293	c.869A>G	c.(868-870)aAc>aGc	p.N290S	ELAVL3_ENST00000438662.2_Missense_Mutation_p.N283S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	290	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGGTGACAGGTTGTACACGAA	0.652000													24	23					0	0	0.00278032	0	0
NME8	51314	broad.mit.edu	37	7	37907434	37907434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:37907434G>A	ENST00000199447.4	+	11	1124	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	NME8_ENST00000440017.1_Missense_Mutation_p.R251Q|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	251	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCTAACGAACGATCTGAGGAT	0.443000													8	27					0	0	0.000274275	0	0
EDEM1	9695	broad.mit.edu	37	3	5229907	5229907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:5229907C>T	ENST00000600805.1	-	1	75	c.76G>A	c.(76-78)Gac>Aac	p.D26N	EDEM1_ENST00000256497.4_Silent_p.V139V																							GCATGTTCGTCTTTGGCTACG	0.701000													4	2					0	0	0.000602214	0	0
ALMS1	7840	broad.mit.edu	37	2	73651929	73651929	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:73651929A>G	ENST00000264448.6	+	5	1247	c.1136A>G	c.(1135-1137)aAc>aGc	p.N379S	ALMS1_ENST00000377715.1_Missense_Mutation_p.N379S|ALMS1_ENST00000409009.1_Missense_Mutation_p.N337S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	379					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTGATGAAAACATAGCTACT	0.373000													19	36					0	0	0.000958276	0	0
METTL25	84190	broad.mit.edu	37	12	82796878	82796878	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:82796878C>T	ENST00000248306.3	+	5	1317	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		GCTACCACCTCTTATCTGAAG	0.373000													16	26					0	0	0.000566183	0	0
MADD	8567	broad.mit.edu	37	11	47296350	47296350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:47296350C>T	ENST00000342922.4	+	3	656	c.299C>T	c.(298-300)tCc>tTc	p.S100F	MADD_ENST00000407859.3_Missense_Mutation_p.S100F|MADD_ENST00000349238.3_Missense_Mutation_p.S100F|MADD_ENST00000406482.1_Missense_Mutation_p.S100F|MADD_ENST00000402799.1_Missense_Mutation_p.S100F|MADD_ENST00000395336.3_Missense_Mutation_p.S100F|MADD_ENST00000395344.3_Missense_Mutation_p.S100F|MADD_ENST00000311027.5_Missense_Mutation_p.S100F|MADD_ENST00000402192.2_Missense_Mutation_p.S100F	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	100					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)		TTCTACCGCTCCTTCCAAAAG	0.557000													11	25					0	0	0.00136819	0	0
NTRK3	4916	broad.mit.edu	37	15	88423523	88423523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:88423523C>T	ENST00000394480.1	-	18	2591	c.2270G>A	c.(2269-2271)tGg>tAg	p.W757*	NTRK3_ENST00000355254.2_Nonsense_Mutation_p.W757*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.W763*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.W771*|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.W749*	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	771	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGTTGGAACCATGGCTGCTT	0.507000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			80	39					0	0	0.000781405	0	0
ESYT1	23344	broad.mit.edu	37	12	56527604	56527604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:56527604C>T	ENST00000394048.5	+	13	1684	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	ESYT1_ENST00000267113.4_Missense_Mutation_p.P474S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P474S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	474	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCGACCAGATCCCCCGTCAGC	0.562000													32	60					0	0	0.00128727	0	0
NEB	4703	broad.mit.edu	37	2	152512943	152512943	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152512943C>T	ENST00000427231.2	-	49	6421	c.6219G>A	c.(6217-6219)ggG>ggA	p.G2073G	NEB_ENST00000409198.1_Silent_p.G2073G|NEB_ENST00000603639.1_Silent_p.G2073G|NEB_ENST00000604864.1_Silent_p.G2073G|NEB_ENST00000172853.10_Silent_p.G2073G|NEB_ENST00000397345.3_Silent_p.G2073G	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAACCATTTTCCCCTTCCCTT	0.373000													25	85					0	0	0.00127121	0	0
KLK13	26085	broad.mit.edu	37	19	51563169	51563169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51563169G>A	ENST00000595793.1	-	3	463	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q141*|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	141	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGCAGGGTTTGGATGTAGCCT	0.632000													12	34					0	0	0.00136819	0	0
DYSF	8291	broad.mit.edu	37	2	71894519	71894519	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:71894519C>T	ENST00000258104.3	+	47	5491	c.5214C>T	c.(5212-5214)atC>atT	p.I1738I	DYSF_ENST00000409582.3_Silent_p.I1776I|DYSF_ENST00000409762.1_Silent_p.I1755I|DYSF_ENST00000409366.1_Silent_p.I1760I|DYSF_ENST00000394120.2_Silent_p.I1739I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.I1759I|DYSF_ENST00000413539.2_Silent_p.I1769I|DYSF_ENST00000409651.1_Silent_p.I1770I|DYSF_ENST00000410041.1_Silent_p.I1756I|DYSF_ENST00000409744.1_Silent_p.I1746I|DYSF_ENST00000410020.3_Silent_p.I1777I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1738						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						CTGGCAGGATCCCAAACCCAC	0.622000													19	73					0	0	0.00229938	0	0
HELQ	113510	broad.mit.edu	37	4	84339324	84339324	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:84339324C>A	ENST00000295488.3	-	16	3147	c.2985G>T	c.(2983-2985)ttG>ttT	p.L995F	HELQ_ENST00000510985.1_Missense_Mutation_p.L928F	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	995							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAAGTTCTACCAAAAGGGCTC	0.363000								Other identified genes with known or suspected DNA repair function					7	190					0.00198382	0.00762708	0.00198382	1	0
RDH8	50700	broad.mit.edu	37	19	10131966	10131966	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10131966A>G	ENST00000591589.1	+	5	821	c.632A>G	c.(631-633)gAg>gGg	p.E211G	RDH8_ENST00000171214.1_Missense_Mutation_p.E191G			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	191					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GTGGTCACCGAGTTTGAGGGG	0.592000													12	27					0	0	0.00244969	0	0
OR4X2	119764	broad.mit.edu	37	11	48267532	48267532	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48267532C>T	ENST00000302329.3	+	1	925	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CATGAAGAGGCTGTGGATTAG	0.438000													20	58					0	0	0.00278032	0	0
FKBPL	63943	broad.mit.edu	37	6	32096660	32096660	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32096660C>A	ENST00000375156.3	-	2	1168	c.898G>T	c.(898-900)Ggg>Tgg	p.G300W		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	300					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCCAGGTTCCCAAGGGCAGCC	0.597000													10	449					0.00136819	0.00527965	0.00136819	1	0
CASR	846	broad.mit.edu	37	3	122003081	122003081	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122003081C>T	ENST00000498619.1	+	7	2748	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	CASR_ENST00000490131.1_Silent_p.I760I|CASR_ENST00000296154.5_Silent_p.I760I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	760					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGATGAGATCATCTTCATCA	0.567000													11	31					0	0	0.000673444	0	0
GMEB1	10691	broad.mit.edu	37	1	29029018	29029018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:29029018C>T	ENST00000373816.1	+	7	805	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.L223F|GMEB1_ENST00000294409.2_Missense_Mutation_p.L233F	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCAGCTCTCACCGCTGC	0.502000													15	46					0	0	0.000422831	0	0
YWHAG	7532	broad.mit.edu	37	7	75959023	75959023	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:75959023G>A	ENST00000307630.3	-	2	837	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	205					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CAAGCTCGGCGATGGCGTCGT	0.592000													28	47					0	0	0.00127121	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941851	120941851	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:120941851G>A	ENST00000273666.6	+	11	1229	c.956_splice	c.e11-1	p.E320_splice	STXBP5L_ENST00000472879.1_Splice_Site_p.E320_splice|STXBP5L_ENST00000471454.1_Splice_Site_p.E320_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.E320_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.E320_splice	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	320					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTATGTAGCGAACCATTCAT	0.368000													27	73					0	0	0.00178596	0	0
SALL3	27164	broad.mit.edu	37	18	76752138	76752138	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:76752138G>A	ENST00000575389.2	+	2	147	c.147G>A	c.(145-147)gaG>gaA	p.E49E	SALL3_ENST00000537592.2_Silent_p.E49E|SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGGGCGAGGAGACCAGCGTGT	0.692000													3	5					0	0	6.4e-05	0	0
CEP250	11190	broad.mit.edu	37	20	34095954	34095954	+	Missense_Mutation	SNP	C	C	T	rs148942784		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:34095954C>T	ENST00000397527.1	+	32	7561	c.6841C>T	c.(6841-6843)Cgg>Tgg	p.R2281W	CEP250_ENST00000342580.4_Missense_Mutation_p.R2225W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2281					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCAGTGGCCCGGCTGGAGAT	0.577000													35	84					0	0	0.00222228	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221721	140221721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140221721G>A	ENST00000531613.1	+	1	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G272E	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGATGAAGGAGCCAATGGG	0.398000													26	42					0	0	0.000586117	0	0
CD96	10225	broad.mit.edu	37	3	111297913	111297913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111297913C>T	ENST00000352690.4	+	4	823	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	CD96_ENST00000438817.2_Missense_Mutation_p.H195Y|CD96_ENST00000283285.5_Missense_Mutation_p.H211Y	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	211	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTCCCAAAATCACCTCATCAG	0.438000									Opitz Trigonocephaly syndrome				24	35					0	0	0.000878237	0	0
ASXL3	80816	broad.mit.edu	37	18	31318725	31318725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:31318725G>A	ENST00000269197.5	+	11	1357	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATTCAGGAGGAAATTGCAGA	0.393000													14	62					0	0	0.000566183	0	0
FAAH2	158584	broad.mit.edu	37	X	57473399	57473399	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:57473399G>A	ENST00000374900.4	+	9	1275	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	385						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTGACCATGGGAAACATGTCA	0.393000										HNSCC(52;0.14)			16	6					0	0	0.000422831	0	0
KSR2	283455	broad.mit.edu	37	12	118105405	118105405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:118105405C>T	ENST00000425217.1	-	5	1012	c.958G>A	c.(958-960)Gag>Aag	p.E320K	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.E349K|KSR2_ENST00000302438.5_Missense_Mutation_p.E46K	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	349					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGATGTTCTCGCAGCTGCCT	0.552000													8	22					0	0	0.000157383	0	0
MYO18B	84700	broad.mit.edu	37	22	26348362	26348362	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26348362C>T	ENST00000335473.7	+	38	6193	c.5943C>T	c.(5941-5943)ttC>ttT	p.F1981F	MYO18B_ENST00000407587.2_Silent_p.F1982F|MYO18B_ENST00000536101.1_Silent_p.F1981F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1981	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGACAGAGTTCCAGAAGGTGC	0.507000													5	30					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179594214	179594214	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179594214C>T	ENST00000589042.1	-	64	18893	c.18669G>A	c.(18667-18669)acG>acA	p.T6223T	TTN_ENST00000591111.1_Silent_p.T5906T|TTN_ENST00000342992.6_Silent_p.T4979T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5906	Ig-like 43.						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)			GAGGTGTTCCCGTAACTTCAC	0.448000													38	53					0	0	0.000814825	0	0
OR11G2	390439	broad.mit.edu	37	14	20666088	20666088	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:20666088C>T	ENST00000357366.3	+	1	594	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGATTCCTATCGTCAACATCT	0.463000													12	21					0	0	0.000978159	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012663	59012663	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:59012663T>C	ENST00000263093.2	-	4	1281	c.1172A>G	c.(1171-1173)aAc>aGc	p.N391S	SLC27A5_ENST00000601355.1_Missense_Mutation_p.N307S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	391					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTGGGGAATGTTACACAAGTA	0.517000													57	98					0	0	0.000781405	0	0
LRRN1	57633	broad.mit.edu	37	3	3888296	3888296	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:3888296G>A	ENST00000319331.3	+	2	2732	c.1971G>A	c.(1969-1971)aaG>aaA	p.K657K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	657						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAGATTTAAGAGAAAAAACT	0.423000													16	20					0	0	0.000566183	0	0
NEURL3	93082	broad.mit.edu	37	2	97166176	97166176	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:97166176C>T	ENST00000310865.3	-	0	751									neuralized E3 ubiquitin protein ligase 3																		GTCGCCTCACCCAGCAGCTCG	0.687000													6	5					0	0	0.00198382	0	0
RP1	6101	broad.mit.edu	37	8	55540520	55540520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:55540520G>A	ENST00000220676.1	+	4	4226	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1360					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGATTCAACTGAAGAGTTAGA	0.333000													20	55					0	0	0.00188189	0	0
LYST	1130	broad.mit.edu	37	1	235915467	235915467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:235915467G>A	ENST00000389794.3	-	27	7639	c.7465C>T	c.(7465-7467)Ccc>Tcc	p.P2489S	LYST_ENST00000389793.2_Missense_Mutation_p.P2489S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2489					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCACTCATGGGAATGCTAAAG	0.308000													10	39					0	0	0.00136819	0	0
PYGO2	90780	broad.mit.edu	37	1	154932030	154932030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:154932030G>A	ENST00000368457.2	-	3	617	c.446C>T	c.(445-447)cCc>cTc	p.P149L	PYGO2_ENST00000368456.1_Missense_Mutation_p.P112L	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	149	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGACCCTGGGGGGGCATGTT	0.627000													10	25					0	0	0.000978159	0	0
GLRA1	2741	broad.mit.edu	37	5	151202326	151202326	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:151202326G>T	ENST00000274576.4	-	9	1550	c.1258C>A	c.(1258-1260)Cgc>Agc	p.R420S	GLRA1_ENST00000455880.2_Missense_Mutation_p.R428S|GLRA1_ENST00000545569.1_Missense_Mutation_p.R337S	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	428					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGCCAATGCGGGATATTTTG	0.502000													6	80					0.00198382	0.00762708	0.00198382	1	0
SLC6A4	6532	broad.mit.edu	37	17	28543189	28543189	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:28543189G>A	ENST00000401766.2	-	6	1395	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	SLC6A4_ENST00000261707.3_Silent_p.L295L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	295					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTCACCAGCAGGACAGAAAGG	0.557000													39	37					0	0	0.00195071	0	0
FAT4	79633	broad.mit.edu	37	4	126411357	126411357	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126411357G>A	ENST00000394329.3	+	17	13393	c.13380G>A	c.(13378-13380)agG>agA	p.R4460R	FAT4_ENST00000335110.5_Silent_p.R2701R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4460	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACACGGGAAGGACCTGTGAGA	0.627000													17	36					0	0	0.000422831	0	0
TPO	7173	broad.mit.edu	37	2	1480954	1480954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:1480954G>A	ENST00000345913.4	+	8	1007	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	TPO_ENST00000382201.3_Missense_Mutation_p.G306R|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.G306R|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G306R|TPO_ENST00000337415.3_Missense_Mutation_p.G306R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	306					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCGCTCTTTGGGAACCTGTC	0.711000													7	15					0	0	0.00198382	0	0
ARID2	196528	broad.mit.edu	37	12	46230691	46230691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:46230691C>T	ENST00000334344.6	+	8	1112	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ARID2_ENST00000422737.1_Missense_Mutation_p.R165C|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R314S(1)|p.R314C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACCTGTCTTCGTTTCCTATT	0.398000			"""N, S, F"""		hepatocellular carcinoma								30	73					0	0	0.001512	0	0
FGD6	55785	broad.mit.edu	37	12	95603962	95603962	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:95603962C>T	ENST00000343958.4	-	2	1321	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	FGD6_ENST00000549499.1_Silent_p.Q366Q|FGD6_ENST00000546711.1_Silent_p.Q366Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	366					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACAAAACATTCTGATGCAGAA	0.373000													25	64					0	0	0.00278032	0	0
MYH8	4626	broad.mit.edu	37	17	10299869	10299869	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10299869C>G	ENST00000403437.2	-	32	4623		c.e32+1		CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	8					0	0	0.000442599	0	0
FAM126B	285172	broad.mit.edu	37	2	201846103	201846103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:201846103C>T	ENST00000418596.2	-	12	1670	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	495						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCTAGCCGGTCTTCCTGCAGA	0.512000													12	25					0	0	0.000978159	0	0
CUL9	23113	broad.mit.edu	37	6	43173896	43173896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:43173896C>T	ENST00000252050.4	+	25	5029	c.4945C>T	c.(4945-4947)Ctc>Ttc	p.L1649F	CUL9_ENST00000354495.3_Missense_Mutation_p.L1539F|CUL9_ENST00000372647.2_Missense_Mutation_p.L1649F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1649					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCAGTTCCACCTCTTCCAGCT	0.562000													7	9					0	0	0.000442599	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111541	142111541	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142111541G>A	ENST00000390378.1	-	0	194																											AATACTGAAAGATAAACTGGG	0.498000													22	43					0	0	0.00188189	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511054	58511054	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:58511054G>A	ENST00000588627.1	-	0	2303																											GTTGTCAAATGATCCTTTATT	0.388000													4	12					0	0	0.000602214	0	0
SNAP47	116841	broad.mit.edu	37	1	227968262	227968262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:227968262C>T	ENST00000366759.4	+	5	1697	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	SNAP47_ENST00000366760.1_Missense_Mutation_p.A186V	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	428	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCCCTGGAGGCCGAGAGTGAG	0.572000													16	25					0	0	0.00121646	0	0
USP39	10713	broad.mit.edu	37	2	85848678	85848678	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:85848678C>T	ENST00000323701.6	+	3	419	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	USP39_ENST00000409025.1_Silent_p.L137L|USP39_ENST00000409470.1_Silent_p.L137L|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Intron|USP39_ENST00000409766.3_Silent_p.L137L	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	137					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTATGCCTGTCTGGTGTGTGG	0.368000													29	61					0	0	0.00058488	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6443283	6443283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6443283G>A	ENST00000162749.2	-	2	466	c.167C>T	c.(166-168)tCg>tTg	p.S56L	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.S56L|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.S56L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	56					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ACAGCAAATCGAATTATTTTG	0.502000													30	61					0	0	0.000814825	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			92	82					0	0	0.000781405	0	0
CFTR	1080	broad.mit.edu	37	7	117232021	117232021	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:117232021G>A	ENST00000003084.6	+	14	1932	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	CFTR_ENST00000454343.1_Silent_p.R539R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	600	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ACAAAACTAGGATTTTGGTCA	0.279000									Cystic Fibrosis				38	97					0	0	0.000781405	0	0
MICALCL	84953	broad.mit.edu	37	11	12316171	12316171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:12316171C>T	ENST00000256186.2	+	3	1484	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	398					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCACTTTTTTCCTCCCTCAGA	0.453000													37	104					0	0	0.00170553	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:10914379G>A	ENST00000298232.7	-	20	1653	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	447	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCCTAATGAAATAGTGGA	0.328000													7	65					0	0	0.000157383	0	0
GRM8	2918	broad.mit.edu	37	7	126079219	126079219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:126079219G>A	ENST00000339582.2	-	11	3489	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F	GRM8_ENST00000444921.2_Missense_Mutation_p.S894F|GRM8_ENST00000358373.3_3'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	894					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S894F(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTTGGTAGAGGAAGCTGTTAA	0.284000										HNSCC(24;0.065)			54	126					0	0	0.000781405	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140926	143140926	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143140926C>T	ENST00000332690.1	+	1	381	c.381C>T	c.(379-381)caC>caT	p.H127H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	127					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCTTCACCCACCCTGTCTTCT	0.483000													59	126					0	0	0.000781405	0	0
STXBP1	6812	broad.mit.edu	37	9	130425628	130425628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130425628C>T	ENST00000373302.3	+	7	713	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	STXBP1_ENST00000373299.1_Missense_Mutation_p.R192W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	192					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.R192W(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGTGCGGTATCGGGGGTAAGG	0.612000													13	60					0	0	0.00136819	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540497	169540497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169540497G>A	ENST00000340806.6	+	1	788	c.788G>A	c.(787-789)gGg>gAg	p.G263E		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	263										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACGGAAATCGGGCTGAGCGGG	0.607000													6	25					0	0	0.00198382	0	0
SETD5	55209	broad.mit.edu	37	3	9476509	9476509	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:9476509G>A	ENST00000402198.1	+	6	766	c.329_splice	c.e6-1	p.G111_splice	SETD5_ENST00000407969.1_Splice_Site_p.G130_splice|SETD5_ENST00000406341.1_Splice_Site_p.G111_splice|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000402466.1_5'UTR	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN	SET domain containing 5	111										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTCTTTAGGGGAATGAGCAG	0.458000													4	9					0	0	0.00024832	0	0
KLRC1	3821	broad.mit.edu	37	12	10601878	10601878	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:10601878C>T	ENST00000544822.1	-	6	834	c.447G>A	c.(445-447)tcG>tcA	p.S149S	KLRC1_ENST00000347831.5_Silent_p.S131S|KLRC1_ENST00000359151.3_Silent_p.S149S|KLRC1_ENST00000408006.3_Silent_p.S131S|KLRC1_ENST00000536188.1_Silent_p.S149S	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	149	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.S149S(2)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TGGAGTTCTTCGAAGTACAGG	0.368000													81	172					0	0	0.000781405	0	0
CPA2	1358	broad.mit.edu	37	7	129909544	129909544	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:129909544G>A	ENST00000222481.4	+	3	244	c.189G>A	c.(187-189)gaG>gaA	p.E63E		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	63					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCCCAGGGGAGACAGCCCACG	0.512000													17	36					0	0	0.000958276	0	0
RPP40	10799	broad.mit.edu	37	6	4995466	4995466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:4995466G>A	ENST00000380051.2	-	8	982	c.938C>T	c.(937-939)tCc>tTc	p.S313F	RPP40_ENST00000319533.5_Missense_Mutation_p.S290F|RPP40_ENST00000464646.1_Missense_Mutation_p.S253F	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	313					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCCTTGAACGGACAGTGTAAC	0.358000													12	44					0	0	0.00136819	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720539	140720539	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140720539G>A	ENST00000394576.2	+	1	2001	c.2001G>A	c.(1999-2001)agG>agA	p.R667R	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCGACAGGATCCCCGACA	0.682000													22	45					0	0	0.000586117	0	0
KIF13A	63971	broad.mit.edu	37	6	17799556	17799556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:17799556C>T	ENST00000378814.5	-	22	2730	c.2731G>A	c.(2731-2733)Gag>Aag	p.E911K	KIF13A_ENST00000378826.2_Missense_Mutation_p.E911K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E911K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E911K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E911K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	911					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAAGGCACCTCGGGGTCCACC	0.527000													7	16					0	0	0.00198382	0	0
ICA1	3382	broad.mit.edu	37	7	8258070	8258070	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:8258070G>A	ENST00000402384.3	-	6	710	c.444C>T	c.(442-444)gcC>gcT	p.A148A	ICA1_ENST00000265577.7_Silent_p.A147A|ICA1_ENST00000396675.3_Silent_p.A148A|ICA1_ENST00000406470.2_Silent_p.A148A|ICA1_ENST00000407906.1_Silent_p.A148A|ICA1_ENST00000476942.1_Intron|ICA1_ENST00000422063.2_Silent_p.A148A|ICA1_ENST00000401396.1_Silent_p.A136A			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	148	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TATCTGAGATGGCCCGATGCC	0.483000													21	47					0	0	0.00121646	0	0
REV3L	5980	broad.mit.edu	37	6	111696857	111696857	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:111696857C>A	ENST00000435970.1	-	15	3283	c.2467G>T	c.(2467-2469)Gat>Tat	p.D823Y	REV3L_ENST00000368802.3_Missense_Mutation_p.D901Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D901Y|REV3L_ENST00000358835.3_Missense_Mutation_p.D901Y			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	901					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AACGTTCCATCTCCAAAGTGA	0.383000								DNA polymerases (catalytic subunits)					39	78					1.32136e-16	5.16675e-16	0.00195071	1	0
SP140	11262	broad.mit.edu	37	2	231158985	231158985	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:231158985G>A	ENST00000392045.3	+	21	2082		c.e21-1		SP140_ENST00000350136.5_Splice_Site|SP140_ENST00000417495.3_Splice_Site|SP140_ENST00000486687.2_Splice_Site|SP140_ENST00000343805.6_Splice_Site|SP140_ENST00000420434.3_Splice_Site	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein						defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGTCTTTCAGAATGGATTTC	0.383000													12	29					0	0	0.000308642	0	0
USP29	57663	broad.mit.edu	37	19	57640915	57640915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:57640915G>A	ENST00000254181.4	+	4	1326	c.872G>A	c.(871-873)gGa>gAa	p.G291E	USP29_ENST00000598197.1_Missense_Mutation_p.G291E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	291					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAATTTGGGAAACACCTGT	0.473000													15	29					0	0	0.000308642	0	0
ADAM29	11086	broad.mit.edu	37	4	175897020	175897020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:175897020C>T	ENST00000359240.3	+	5	1014	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ADAM29_ENST00000514159.1_Missense_Mutation_p.S115F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S115F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S115F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	115					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S115F(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCCCTGGTTTCCCTCAGTACC	0.443000													21	39					0	0	0.00188189	0	0
LY75	4065	broad.mit.edu	37	2	160750531	160750531	+	Silent	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:160750531C>A	ENST00000263636.4	-	3	558	c.531G>T	c.(529-531)ggG>ggT	p.G177G	LY75_ENST00000554112.1_Silent_p.G177G|LY75_ENST00000553424.1_Silent_p.G177G|LY75-CD302_ENST00000505052.1_Silent_p.G177G|LY75-CD302_ENST00000504764.1_Silent_p.G177G	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GATGCCAGGTCCCATCAATTA	0.433000													17	38					4.7546e-09	1.85221e-08	0.000422831	1	0
SNIP1	79753	broad.mit.edu	37	1	38006221	38006221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:38006221C>T	ENST00000296215.6	-	3	535	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	155	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CCAGGCCTCTCGTTAGACGTT	0.587000													46	102					0	0	0.000781405	0	0
WDR62	284403	broad.mit.edu	37	19	36575559	36575559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:36575559C>T	ENST00000401500.2	+	12	1590	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	WDR62_ENST00000270301.7_Missense_Mutation_p.H519Y	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	519					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCCAGGATCCACGAGCTGCA	0.607000													22	32					0	0	0.000720815	0	0
HOXB1	3211	broad.mit.edu	37	17	46608054	46608054	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:46608054G>A	ENST00000239174.6	-	1	305	c.213C>T	c.(211-213)acC>acT	p.T71T	HOXB1_ENST00000577092.1_Silent_p.T71T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	71			T -> N (in dbSNP:rs35254561).			nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCACCCCCAGGGTCGAAGGCG	0.677000													24	22					0	0	0.000586117	0	0
C16orf62	57020	broad.mit.edu	37	16	19651383	19651383	+	Missense_Mutation	SNP	G	G	A	rs144364706		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:19651383G>A	ENST00000438132.3	+	21	2060	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	C16orf62_ENST00000251143.5_Missense_Mutation_p.R582Q|C16orf62_ENST00000543152.1_Missense_Mutation_p.R331Q|C16orf62_ENST00000448695.1_Missense_Mutation_p.R432Q|C16orf62_ENST00000542263.1_Missense_Mutation_p.R604Q|C16orf62_ENST00000417362.2_Missense_Mutation_p.R515Q	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	582						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAGAGTGTGCGGGTGGAGGTT	0.433000													5	61					0	0	0.00116845	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115527213	115527213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:115527213G>A	ENST00000361048.1	+	5	661	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E106K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E24K	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		CACTAACAGGGAATACTTCCT	0.388000													19	27					0	0	0.00152264	0	0
NLRP5	126206	broad.mit.edu	37	19	56569775	56569775	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56569775G>A	ENST00000390649.3	+	14	3469	c.3470_splice	c.e14+1	p.G1157_splice		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1157						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)		ACAGATAATTGGGTAAGTCGC	0.463000													7	14					0	0	0.00198382	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245157	100245157	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100245157C>T	ENST00000160382.5	-	8	776		c.e8-1			NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B						chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGACAGGCTCCTGTGGGGGCA	0.602000													14	28					0	0	0.000308642	0	0
LRRN4	164312	broad.mit.edu	37	20	6025272	6025272	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:6025272C>T	ENST00000378858.4	-	4	1139	c.915G>A	c.(913-915)tcG>tcA	p.S305S		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	305						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGAGGTTGATCGATAGGACCT	0.438000													13	26					0	0	0.00244969	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548646	20548646	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:20548646C>T	ENST00000329697.6	-	14	1836	c.1668G>A	c.(1666-1668)ggG>ggA	p.G556G	ACSM2B_ENST00000565322.1_Silent_p.G477G|ACSM2B_ENST00000567001.1_Silent_p.G556G|ACSM2B_ENST00000565232.1_Silent_p.G556G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	556					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTGAATTTTCCCTGTGACAG	0.473000													70	163					0	0	0.000781405	0	0
RGL2	5863	broad.mit.edu	37	6	33260299	33260299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33260299G>A	ENST00000497454.1	-	17	2525	c.2030C>T	c.(2029-2031)cCa>cTa	p.P677L	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	677	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GATGACACTTGGAGCCTTGTC	0.517000													36	88					0	0	0.00148497	0	0
MAP3K5	4217	broad.mit.edu	37	6	136977592	136977592	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:136977592G>A	ENST00000359015.4	-	10	1893	c.1533C>T	c.(1531-1533)ctC>ctT	p.L511L	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	511					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAATAGACTTGAGGTACCTGA	0.353000													31	105					0	0	0.00283554	0	0
RELN	5649	broad.mit.edu	37	7	103301971	103301971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:103301971C>T	ENST00000428762.1	-	12	1452	c.1293G>A	c.(1291-1293)tgG>tgA	p.W431*	RELN_ENST00000424685.2_Nonsense_Mutation_p.W431*|RELN_ENST00000343529.5_Nonsense_Mutation_p.W431*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	431					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)		CCAAGACATCCCATCTAAAAA	0.358000													10	23					0	0	0.000673444	0	0
CYFIP2	26999	broad.mit.edu	37	5	156734867	156734867	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:156734867C>T	ENST00000347377.6	+	9	1325	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYFIP2_ENST00000522463.1_Silent_p.F102F|CYFIP2_ENST00000521420.1_Silent_p.F272F|CYFIP2_ENST00000541131.1_Silent_p.F223F|CYFIP2_ENST00000318218.6_Silent_p.F298F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Silent_p.F298F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	298					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGATAAATTCTTTAAGGTCA	0.458000													67	184					0	0	0.000781405	0	0
LOXL2	4017	broad.mit.edu	37	8	23191094	23191094	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:23191094G>A	ENST00000389131.3	-	5	1155	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	262	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TGCAGTCCATGGAGAATGGCC	0.607000													12	25					0	0	0.00185496	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890298	24890298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:24890298G>A	ENST00000382071.2	+	2	242	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G53S			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	53	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGTGACAAAGGCGATGCAGG	0.542000													12	29					0	0	0.00074312	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449693	61449693	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61449693C>T	ENST00000398019.2	+	2	412	c.87C>T	c.(85-87)ttC>ttT	p.F29F	SERPINB7_ENST00000336429.2_Silent_p.F29F|SERPINB7_ENST00000540675.1_Silent_p.F29F|SERPINB7_ENST00000546027.1_Silent_p.F29F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	29					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAATGTGTTCTTTTCCTCTC	0.498000													19	52					0	0	0.00188189	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819814	25819814	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:25819814T>C	ENST00000244527.4	-	5	569	c.454A>G	c.(454-456)Aca>Gca	p.T152A	SLC17A1_ENST00000468082.1_Missense_Mutation_p.T152A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.T152A|SLC17A1_ENST00000476801.1_Missense_Mutation_p.T152A	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	152					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AACTGGGCTGTTGCAACTATC	0.378000													16	56					0	0	0.000422831	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604836	80604836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:80604836C>T	ENST00000254037.2	+	3	3762	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	ZCCHC9_ENST00000380199.5_Missense_Mutation_p.P203S|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.P203S|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.P203S|ZCCHC9_ENST00000506458.1_3'UTR			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	203							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TCCTGATAATCCCAAAGGACT	0.388000													15	39					0	0	0.000566183	0	0
CCDC63	160762	broad.mit.edu	37	12	111321930	111321930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:111321930G>A	ENST00000308208.5	+	8	1192	c.950G>A	c.(949-951)gGg>gAg	p.G317E	CCDC63_ENST00000552694.1_Missense_Mutation_p.G238E|CCDC63_ENST00000545036.1_Missense_Mutation_p.G277E	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	317										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTGAGAGTGGGAACCTAAAC	0.502000													39	75					0	0	0.00128727	0	0
THSD4	79875	broad.mit.edu	37	15	71704066	71704066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:71704066G>A	ENST00000355327.3	+	7	1190	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	THSD4_ENST00000261862.6_Missense_Mutation_p.M352I			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	352						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCAGGCAATGGGCTACCGCT	0.443000													47	15					0	0	0.00285205	0	0
MACF1	23499	broad.mit.edu	37	1	39901420	39901420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:39901420C>T	ENST00000564288.1	+	70	18752	c.17975C>T	c.(17974-17976)tCc>tTc	p.S5992F	MACF1_ENST00000372915.3_Missense_Mutation_p.S5888F|MACF1_ENST00000539005.1_Missense_Mutation_p.S3800F|MACF1_ENST00000567887.1_Missense_Mutation_p.S6029F|MACF1_ENST00000361689.2_Missense_Mutation_p.S3930F|MACF1_ENST00000317713.7_Missense_Mutation_p.S3930F|MACF1_ENST00000289893.4_Missense_Mutation_p.S4432F|MACF1_ENST00000545844.1_Missense_Mutation_p.S3930F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6004					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)			GAAGCCGTGTCCCAGTCCACA	0.483000													39	41					0	0	0.00195071	0	0
CCDC108	255101	broad.mit.edu	37	2	219874695	219874695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:219874695G>A	ENST00000341552.5	-	27	4504	c.4421C>T	c.(4420-4422)tCc>tTc	p.S1474F	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1474F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1474F|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1474						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCTGCCAGGAGAAGGCAAT	0.552000													15	29					0	0	0.000308642	0	0
DARC	2532	broad.mit.edu	37	1	159176200	159176200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159176200G>A	ENST00000537147.1	+	3	1814	c.971G>A	c.(970-972)gGa>gAa	p.G324E	DARC_ENST00000368121.2_Missense_Mutation_p.G326E|DARC_ENST00000368122.2_Missense_Mutation_p.G324E			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	324					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCCCTGAAGGATGGTCTTCT	0.562000													84	180					0	0	0.000781405	0	0
DHX38	9785	broad.mit.edu	37	16	72142768	72142768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:72142768G>A	ENST00000268482.3	+	24	3834	c.3325G>A	c.(3325-3327)Gga>Aga	p.G1109R	DHX38_ENST00000536867.1_Missense_Mutation_p.G421R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1109					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTCCCTTTTTGGAATGGGCTA	0.547000													14	22					0	0	0.000422831	0	0
FAT2	2196	broad.mit.edu	37	5	150947743	150947743	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:150947743G>A	ENST00000261800.5	-	1	762	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	250	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGCTTCCTGAGGGCAGGCT	0.567000													12	17					0	0	0.000978159	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30118226	30118226	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:30118226A>G	ENST00000449726.1	+	14	1733	c.1383A>G	c.(1381-1383)ccA>ccG	p.P461P	PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000258679.7_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	461					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GGGCAGCTCCATCCTATGAAG	0.453000													17	37					0	0	0.000958276	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769787	112769787	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:112769787G>A	ENST00000390666.3	-	1	941	c.750C>T	c.(748-750)taC>taT	p.Y250Y	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	250	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GCAGCATGTGGTAGATGAGGT	0.602000													13	27					0	0	0.00244969	0	0
RICTOR	253260	broad.mit.edu	37	5	38964940	38964940	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:38964940G>A	ENST00000357387.3	-	16	1384	c.1354C>T	c.(1354-1356)Cta>Tta	p.L452L	RICTOR_ENST00000296782.5_Silent_p.L452L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	452					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATATTCATTAGGGTTGGCAAG	0.338000													16	43					0	0	0.00121646	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122505	153122505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153122505G>A	ENST00000368748.4	-	2	120	c.82C>T	c.(82-84)Cca>Tca	p.P28S		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	28	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm		p.P28S(1)		endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCGGGGGTGGACATGGCTCT	0.597000													26	50					0	0	0.00178596	0	0
SCAPER	49855	broad.mit.edu	37	15	77067374	77067374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:77067374G>A	ENST00000538941.2	-	9	1058	c.119C>T	c.(118-120)tCa>tTa	p.S40L	SCAPER_ENST00000563290.1_Missense_Mutation_p.S286L|SCAPER_ENST00000324767.7_Missense_Mutation_p.S286L|SCAPER_ENST00000562890.1_5'UTR	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	285						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TGTTGCCAATGAAACTTTTGG	0.403000													119	47					0	0	0.000781405	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958068	57958068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:57958068C>T	ENST00000311591.3	+	1	163	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GAGTTTCTATCTTGCCACTAT	0.483000													16	16					0	0	0.000958276	0	0
PRLR	5618	broad.mit.edu	37	5	35065447	35065447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35065447C>T	ENST00000382002.5	-	10	2039	c.1613G>A	c.(1612-1614)gGg>gAg	p.G538E	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.G437E|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.G437E|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Silent_p.R347R|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	538					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTCAGGAGTCCCGGGCTTCTT	0.483000													13	49					0	0	0.00244969	0	0
VSTM1	284415	broad.mit.edu	37	19	54545553	54545553	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:54545553G>A	ENST00000338372.2	-	5	640	c.465C>T	c.(463-465)atC>atT	p.I155I	VSTM1_ENST00000366170.2_Silent_p.I67I|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	155						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	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;0.165)		ATCTGTAGATGATGAAGACTG	0.502000													8	24					0	0	0.000157383	0	0
TECTA	7007	broad.mit.edu	37	11	121061414	121061414	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:121061414G>A	ENST00000392793.1	+	24	6638		c.e24-1		TECTA_ENST00000264037.2_Splice_Site			O75443	TECTA_HUMAN	tectorin alpha						cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTGTTTACAGCCTCTAATTC	0.413000													14	23					0	0	0.000422831	0	0
RXFP1	59350	broad.mit.edu	37	4	159568290	159568290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:159568290C>T	ENST00000307765.5	+	16	1944	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	RXFP1_ENST00000460056.2_Missense_Mutation_p.P484S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P532S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P460S|RXFP1_ENST00000343542.5_Missense_Mutation_p.P517S	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	565						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGTATGCTTCCCTCTTCATTC	0.333000													25	52					0	0	0.000720815	0	0
PAPPA	5069	broad.mit.edu	37	9	118974097	118974097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:118974097G>A	ENST00000328252.3	+	4	2173	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	602					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTCTGCAATGATACCAACCC	0.532000													64	214					0	0	0.000781405	0	0
COL8A1	1295	broad.mit.edu	37	3	99513448	99513448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:99513448G>A	ENST00000261037.3	+	5	1083	c.703G>A	c.(703-705)Ggc>Agc	p.G235S	COL8A1_ENST00000273342.4_Missense_Mutation_p.G235S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	235	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AGGACCTCAAGGCCTTCGGGG	0.622000													27	71					0	0	0.00209593	0	0
OR8K3	219473	broad.mit.edu	37	11	56085989	56085989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56085989G>A	ENST00000312711.1	+	1	207	c.207G>A	c.(205-207)atG>atA	p.M69I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	69					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)					TGGCTTTCATGGATCTTGGTT	0.383000													45	63					0	0	0.000781405	0	0
PLA2G12A	81579	broad.mit.edu	37	4	110650855	110650855	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:110650855G>A	ENST00000243501.5	-	1	378	c.111C>T	c.(109-111)acC>acT	p.T37T	PLA2G12A_ENST00000502283.1_Silent_p.T37T	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	37					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CGTTCCGGATGGTCTTCAGGG	0.627000													5	13					0	0	0.00116845	0	0
BBX	56987	broad.mit.edu	37	3	107524238	107524238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:107524238C>T	ENST00000416476.2	+	17	1971	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	BBX_ENST00000325805.8_Silent_p.L920L|BBX_ENST00000406780.1_Silent_p.L890L|BBX_ENST00000415149.2_Silent_p.L890L|BBX_ENST00000402543.1_Silent_p.L870L			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAACTCCGCTCACCCATGATG	0.433000													51	132					0	0	0.000781405	0	0
ROS1	6098	broad.mit.edu	37	6	117700235	117700235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117700235G>A	ENST00000368508.3	-	17	2782	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.L857F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	862					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)		TGTCCCCGAAGAACAGCTGTG	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								16	40					0	0	0.000958276	0	0
LMOD1	25802	broad.mit.edu	37	1	201868835	201868835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:201868835C>T	ENST00000367288.4	-	2	1552	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	436					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTGGCGATCTCCATCTCCGTC	0.592000													11	27					0	0	0.000673444	0	0
LPIN1	23175	broad.mit.edu	37	2	11922483	11922483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:11922483C>T	ENST00000256720.2	+	7	1099	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	LPIN1_ENST00000425416.2_Missense_Mutation_p.P342S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P421S|LPIN1_ENST00000396097.1_Missense_Mutation_p.P66S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P378S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P378S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	336					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCAGAACAAGCCTCAGACAGA	0.507000													14	36					0	0	0.00185496	0	0
KIF2B	84643	broad.mit.edu	37	17	51900950	51900950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:51900950G>A	ENST00000268919.4	+	1	712	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	186					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCCAACTACGAAATCATGCA	0.567000													8	72					0	0	0.000157383	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508190	37508190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37508190G>A	ENST00000374660.1	+	40	3838	c.3739G>A	c.(3739-3741)Gaa>Aaa	p.E1247K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1128K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1128K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1184						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAATTGAAGGAAAAACAAGA	0.368000													29	75					0	0	0.00127121	0	0
ITGA10	8515	broad.mit.edu	37	1	145539751	145539751	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:145539751C>T	ENST00000369304.3	+	27	3358	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	ITGA10_ENST00000539363.1_Silent_p.V918V|ITGA10_ENST00000538811.1_Silent_p.V930V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1061					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGACTGAGGTCTCTGTTGGAC	0.488000													14	24					0	0	0.000308642	0	0
FAM127A	8933	broad.mit.edu	37	X	134166496	134166496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:134166496C>T	ENST00000257013.7	+	1	164	c.83C>T	c.(82-84)cCc>cTc	p.P28L	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	28										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					AACCCGATTCCCTTTCCCGAG	0.632000													29	16					0	0	0.00178596	0	0
RDH8	50700	broad.mit.edu	37	19	10132089	10132089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10132089G>A	ENST00000591589.1	+	5	944	c.755G>A	c.(754-756)gGa>gAa	p.G252E	RDH8_ENST00000171214.1_Missense_Mutation_p.G232E			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	232					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGCTCCGTGGGACAGAACCCA	0.617000													13	47					0	0	0.000308642	0	0
CDH10	1008	broad.mit.edu	37	5	24537681	24537681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:24537681G>A	ENST00000264463.4	-	3	841	c.334C>T	c.(334-336)Cat>Tat	p.H112Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H112Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTGTGGCATGAATATCACCT	0.403000										HNSCC(23;0.051)			20	80					0	0	0.00152264	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228931	142228931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:142228931C>T	ENST00000519067.1	-	4	958	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	SLC45A4_ENST00000433583.2_Missense_Mutation_p.G212S|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G219S|SLC45A4_ENST00000517878.1_Missense_Mutation_p.G270S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	270					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCCAGGGCGCCGGGCTCCTCA	0.672000													20	34					0	0	0.00121646	0	0
ABO	28	broad.mit.edu	37	9	136137530	136137530	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:136137530G>A	ENST00000453660.2	-	0	81							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGCATTATTAGGAAAAGGATC	0.483000													6	35					0	0	0.000157383	0	0
FGD2	221472	broad.mit.edu	37	6	36982774	36982774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:36982774C>T	ENST00000274963.8	+	8	1160	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	330	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTCAAGATCTCCTTCCGCCGC	0.627000													6	38					0	0	0.000157383	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153271692	153271692	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153271692C>T	ENST00000290722.1	-	6	796	c.744G>A	c.(742-744)caG>caA	p.Q248Q		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	248					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGCCACCATCCTGGCCCACCA	0.453000													10	19					0	0	0.000673444	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618073	156618073	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:156618073C>T	ENST00000296518.7	+	3	263	c.54C>T	c.(52-54)tcC>tcT	p.S18S	GUCY1A3_ENST00000511507.1_Silent_p.S18S|GUCY1A3_ENST00000515602.1_Intron|GUCY1A3_ENST00000506455.1_Silent_p.S18S|GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000511108.1_Silent_p.S18S|GUCY1A3_ENST00000513574.1_Silent_p.S18S|GUCY1A3_ENST00000455639.2_Silent_p.S18S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	18					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTCCTTTCTCCTTACTGGCAC	0.522000													13	25					0	0	0.00185496	0	0
CTSS	1520	broad.mit.edu	37	1	150722515	150722515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:150722515C>T	ENST00000368985.3	-	6	1020	c.760G>A	c.(760-762)Gcg>Acg	p.A254T	CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.A204T	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	254					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GGATGACGCGCATCTACACCA	0.398000													11	26					0	0	0.00136819	0	0
CDK3	1018	broad.mit.edu	37	17	73998030	73998030	+	Silent	SNP	C	C	T	rs150589656		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:73998030C>T	ENST00000425876.2	+	2	280	c.192C>T	c.(190-192)gtC>gtT	p.V64V	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.V64V			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	64	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCAACATCGTCCGGTGAGTTG	0.592000													13	27					0	0	0.00185496	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883545	228883545	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:228883545G>A	ENST00000392056.3	-	7	2071	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	SPHKAP_ENST00000344657.5_Silent_p.I675I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	675						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AATGCCTCAGGATAACATTGG	0.423000													53	129					0	0	0.000781405	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671589	51671589	+	RNA	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51671589T>C	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							GGAGCTGGTGTGACCACGGAG	0.627000													8	12					0	0	0.000274275	0	0
UNC45B	146862	broad.mit.edu	37	17	33477204	33477204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:33477204G>A	ENST00000268876.5	+	4	440	c.343G>A	c.(343-345)Gag>Aag	p.E115K	UNC45B_ENST00000591048.1_Missense_Mutation_p.E115K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E115K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E115K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E115K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	115					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GAACTTCCAGGAGATGCTGAG	0.597000													27	73					0	0	0.00209593	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39411612	39411612	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:39411612G>A	ENST00000361441.3	+	2	310	c.30G>A	c.(28-30)aaG>aaA	p.K10K	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	10					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					ACCCGATGAAGGCAATGTATC	0.522000													28	52					0	0	0.0024448	0	0
TRIM71	131405	broad.mit.edu	37	3	32932742	32932742	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:32932742C>T	ENST00000383763.4	+	4	2109	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	682					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCACGTTCGAGGGCCAGT	0.577000													19	15					0	0	0.000958276	0	0
EIF2B2	8892	broad.mit.edu	37	14	75475861	75475861	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:75475861A>T	ENST00000266126.5	+	8	1106	c.1026A>T	c.(1024-1026)gaA>gaT	p.E342D		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	342					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGATGAGTGAACTCTACCATC	0.473000													48	63					0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141108456	141108456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:141108456C>T	ENST00000389484.3	-	77	12773	c.11802G>A	c.(11800-11802)atG>atA	p.M3934I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3934					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)		TCCAAATAATCATATCTCTTT	0.333000										TSP Lung(27;0.18)			32	66					0	0	0.0024448	0	0
FOXF2	2295	broad.mit.edu	37	6	1390486	1390486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:1390486C>T	ENST00000259806.1	+	1	418	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	102					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CGAGAAGCCGCCCTACTCGTA	0.731000													14	14					0	0	0.000422831	0	0
LCN9	392399	broad.mit.edu	37	9	138556092	138556092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:138556092C>T	ENST00000277526.3	+	2	181	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	61						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GGTCTTCGTCCGGAATATTGA	0.468000													30	95					0	0	0.0024448	0	0
C1orf173	127254	broad.mit.edu	37	1	75037470	75037470	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75037470C>T	ENST00000326665.5	-	14	4142	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1308	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTCCTGCATCGCTTCTGTCT	0.542000													41	121					0	0	0.00285205	0	0
UVSSA	57654	broad.mit.edu	37	4	1343519	1343519	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:1343519C>T	ENST00000389851.4	+	3	753	c.306C>T	c.(304-306)ccC>ccT	p.P102P	UVSSA_ENST00000507531.1_Silent_p.P102P|UVSSA_ENST00000511216.1_Silent_p.P102P	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	102																	TGCCGCCCCCCAGGGAGGCGG	0.637000													14	12					0	0	0.000308642	0	0
CNBD2	140894	broad.mit.edu	37	20	34596326	34596326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:34596326G>A	ENST00000373973.3	+	9	1251	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	CNBD2_ENST00000349339.1_Missense_Mutation_p.G360R|CNBD2_ENST00000538900.1_Missense_Mutation_p.G360R					cyclic nucleotide binding domain containing 2																		GGGGCTACAGGGGACAAGCTT	0.493000													31	56					0	0	0.00058488	0	0
SHC3	53358	broad.mit.edu	37	9	91652999	91652999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:91652999C>T	ENST00000375835.4	-	11	1871	c.1565G>A	c.(1564-1566)aGg>aAg	p.R522K	SHC3_ENST00000375831.1_Missense_Mutation_p.R70K|SHC3_ENST00000375830.1_Missense_Mutation_p.R70K	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	522	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GGTGCTCTTCCTGACCAGGAA	0.602000													97	93					0	0	0.000781405	0	0
PDE3A	5139	broad.mit.edu	37	12	20799717	20799717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:20799717G>A	ENST00000359062.3	+	12	2438	c.2398G>A	c.(2398-2400)Gga>Aga	p.G800R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	800	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGACATATGGGATATGTATT	0.378000													25	83					0	0	0.00106085	0	0
MARCO	8685	broad.mit.edu	37	2	119726751	119726751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:119726751G>A	ENST00000327097.4	+	2	248	c.113G>A	c.(112-114)aGg>aAg	p.R38K	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	38					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAGCCCAAGAGGAGAAATGGG	0.577000													21	48					0	0	0.000878237	0	0
TTC39C	125488	broad.mit.edu	37	18	21705490	21705490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:21705490C>T	ENST00000540918.2	+	5	725	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	TTC39C_ENST00000317571.3_Missense_Mutation_p.P466S|TTC39C_ENST00000304621.6_Missense_Mutation_p.P405S			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	466							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CTGTTCCTTCCCCAACCTGCA	0.458000													18	39					0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179589234	179589234	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179589234C>T	ENST00000589042.1	-	72	21092	c.20868G>A	c.(20866-20868)ccG>ccA	p.P6956P	TTN_ENST00000591111.1_Silent_p.P6639P|TTN_ENST00000342992.6_Silent_p.P5712P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6639	Ig-like 51.						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)			TCACCGTCATCGGTCCTGCCT	0.478000													9	29					0	0	0.000442599	0	0
APOL4	80832	broad.mit.edu	37	22	36587695	36587695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:36587695G>A	ENST00000332987.1	-	7	894	c.472C>T	c.(472-474)Cca>Tca	p.P158S	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.P161S|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	162					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GCTGTAAATGGTGCCAACATA	0.552000													8	13					0	0	0.000274275	0	0
FAM135B	51059	broad.mit.edu	37	8	139164781	139164781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:139164781G>A	ENST00000395297.1	-	13	2107	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	646										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTCAGGGTAGAACTTAGTGG	0.483000										HNSCC(54;0.14)			12	38					0	0	0.00185496	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62390905	62390905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:62390905C>T	ENST00000281156.4	-	9	1291	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTATCCCCCTCTGGCTGACCT	0.493000													22	29					0	0	0.00278032	0	0
ROBO4	54538	broad.mit.edu	37	11	124766556	124766556	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:124766556C>T	ENST00000306534.3	-	3	896	c.411G>A	c.(409-411)gaG>gaA	p.E137E	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	137	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCTGGAAATCCTCCCGGAGGA	0.612000													4	6					0	0	0.00116845	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950820	14950820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:14950820C>T	ENST00000453695.2	-	14	1750	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	DCLRE1C_ENST00000378242.1_Missense_Mutation_p.D209N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.D436N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.D441N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.D436N|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.D441N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.D436N|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.D556N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.D436N|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.D441N	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	556					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						AAAACAGTATCAGATTGGCTG	0.438000								Non-homologous end-joining					30	66					0	0	0.00283554	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111734999	111734999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:111734999C>T	ENST00000374595.4	-	9	1382	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.E435K|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	435					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGGCATATTCAGCCAAAGCT	0.358000													66	68					0	0	0.000781405	0	0
FAT3	120114	broad.mit.edu	37	11	92533014	92533014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:92533014G>A	ENST00000298047.6	+	9	6852	c.6835G>A	c.(6835-6837)Gat>Aat	p.D2279N	FAT3_ENST00000409404.2_Missense_Mutation_p.D2279N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2129N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2279	Cadherin 20.				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)				GCTAGTTAATGATGTAAATGA	0.413000										TCGA Ovarian(4;0.039)			184	244					0	0	0.000781405	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705472	60705472	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:60705472G>A	ENST00000227880.3	-	7	1694	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	487					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGGAGCGCGGGGCCTCTGAGT	0.657000													8	7					0	0	0.000157383	0	0
WDFY3	23001	broad.mit.edu	37	4	85731467	85731467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:85731467G>A	ENST00000322366.6	-	14	2325	c.1918C>T	c.(1918-1920)Cgt>Tgt	p.R640C	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.R640C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	640						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)		GTTCTTGAACGATGGCTTTCT	0.388000													11	16					0	0	0.000673444	0	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:10920116C>T	ENST00000298232.7	-	18	1451	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E342K|TPTE_ENST00000361285.4_Missense_Mutation_p.E380K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAATTTTTCGCTGTGGGTT	0.393000													13	128					0	0	0.00185496	0	0
THUMPD2	80745	broad.mit.edu	37	2	39993247	39993247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:39993247G>A	ENST00000454352.2	-	6	858	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	THUMPD2_ENST00000260619.6_Silent_p.I221I|THUMPD2_ENST00000505747.1_Silent_p.I251I			Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	0							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GATGTATAAAGATCTGAAAGA	0.328000													23	60					0	0	0.000586117	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641389	145641389	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:145641389G>A	ENST00000276833.5	-	1	507	c.204C>T	c.(202-204)gtC>gtT	p.V68V	SLC39A4_ENST00000301305.3_Silent_p.V93V	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	93						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGAGGCGGGCGACGTACCTGG	0.721000													4	5					0	0	0.00024832	0	0
F13B	2165	broad.mit.edu	37	1	197026196	197026196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197026196G>A	ENST00000367412.1	-	7	1161	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	373	Sushi 6.				blood coagulation	extracellular region		p.S373L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATCTCATTCGATCCATGGAG	0.378000													12	42					0	0	0.00185496	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	10					0	0	6.4e-05	0	0
LCE1B	353132	broad.mit.edu	37	1	152785068	152785068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152785068G>A	ENST00000360090.3	+	1	622	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	49	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCAGCTCCGGAGGCTGCTGT	0.647000													33	57					0	0	0.00111076	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817929	62817929	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:62817929G>A	ENST00000582986.1	-	0	569					NR_024386.1																						CTGTGCCCAGGTCTGAGTCAT	0.537000													14	16					0	0	0.00074312	0	0
LPHN2	23266	broad.mit.edu	37	1	82456779	82456779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:82456779C>T	ENST00000370728.1	+	25	4975	c.4330C>T	c.(4330-4332)Cca>Tca	p.P1444S	LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.P1459S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P1388S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P1446S|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.P1416S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P1401S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P1388S|LPHN2_ENST00000370730.1_Missense_Mutation_p.P1401S|LPHN2_ENST00000271029.4_Missense_Mutation_p.P1416S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P1369S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P1459S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.P1446S			O95490	LPHN2_HUMAN	latrophilin 2	1444					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		agggtgtattccagAAGGAGA	0.418000													12	29					0	0	0.00136819	0	0
LGSN	51557	broad.mit.edu	37	6	63990433	63990433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:63990433C>T	ENST00000370658.5	-	5	635	c.602G>A	c.(601-603)gGa>gAa	p.G201E	LGSN_ENST00000370657.4_Silent_p.G341G	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	0					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACCATTTTTTCCCAGTGATCG	0.488000													25	77					0	0	0.00106085	0	0
C4BPA	722	broad.mit.edu	37	1	207307841	207307841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:207307841G>A	ENST00000367070.3	+	9	1371	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	393	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTCTATGGAGATGAGATTTC	0.423000													30	68					0	0	0.00178596	0	0
CCDC116	164592	broad.mit.edu	37	22	21988447	21988447	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:21988447T>C	ENST00000292779.3	+	3	370	c.209T>C	c.(208-210)tTt>tCt	p.F70S		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	70										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCTCAGCCCTTTGGCCACTTT	0.622000													28	67					0	0	0.0024448	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834329	125834329	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:125834329C>T	ENST00000299308.3	+	2	392	c.384C>T	c.(382-384)tcC>tcT	p.S128S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	128						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGACAGCTCCATCTACTCCA	0.468000													40	91					0	0	0.00222228	0	0
ATP8B4	79895	broad.mit.edu	37	15	50193395	50193395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:50193395G>A	ENST00000284509.6	-	21	2324	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S728F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	728					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATGGCCATTGGAAAAATTTCT	0.358000													16	25					0	0	0.000422831	0	0
MUC3A	4584	broad.mit.edu	37	7	100552178	100552178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100552178C>T	ENST00000319509.7	+	1	929	c.929C>T	c.(928-930)cCc>cTc	p.P310L						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GAAATAACCCCCTTTTCTTAT	0.478000													78	296					0	0	0.000781405	0	0
SEPHS1	22929	broad.mit.edu	37	10	13371744	13371744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:13371744G>A	ENST00000327347.5	-	6	980	c.605C>T	c.(604-606)cCc>cTc	p.P202L	SEPHS1_ENST00000545675.1_Missense_Mutation_p.P202L|SEPHS1_ENST00000378614.4_Missense_Mutation_p.P202L|SEPHS1_ENST00000537130.1_Missense_Mutation_p.P135L	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	202					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TGTCCCCAGGGGTTTTGTCAG	0.527000													5	6					0	0	0.00116845	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449605	105449605	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:105449605A>T	ENST00000337685.2	+	5	965	c.180A>T	c.(178-180)aaA>aaT	p.K60N	MUM1L1_ENST00000372552.1_Missense_Mutation_p.K60N|MUM1L1_ENST00000357175.2_Missense_Mutation_p.K60N	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	60										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTAAATAAATCTCAAATTG	0.388000													11	9					0	0	0.000978159	0	0
MYT1L	23040	broad.mit.edu	37	2	1893143	1893143	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:1893143G>T	ENST00000399161.2	-	16	3137	c.2390C>A	c.(2389-2391)tCc>tAc	p.S797Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.S795Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	797					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)		CTGCTGGGGGGACATGGGCTC	0.622000													17	26					1.67942e-08	6.53693e-08	0.00074312	1	0
UNC13C	440279	broad.mit.edu	37	15	54914563	54914563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:54914563C>T	ENST00000545554.1	+	30	6145	c.6145C>T	c.(6145-6147)Cat>Tat	p.H2049Y	UNC13C_ENST00000260323.11_Missense_Mutation_p.H2049Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H2047Y|UNC13C_ENST00000539562.2_5'UTR			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2049	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATATCTGTTCATGTGGACAT	0.428000													29	41					0	0	0.000814825	0	0
ELTD1	64123	broad.mit.edu	37	1	79403547	79403547	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:79403547C>T	ENST00000370742.3	-	6	768	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	235					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTGGGATATCCTTAAAGTAG	0.353000													63	177					0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197390665	197390665	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197390665C>T	ENST00000367400.3	+	6	1842	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CRB1_ENST00000544212.1_Silent_p.F50F|CRB1_ENST00000543483.1_Silent_p.F268F|CRB1_ENST00000535699.1_Silent_p.F500F|CRB1_ENST00000538660.1_Silent_p.F569F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.F457F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	569	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.F569F(1)		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						AGTGGCATTTCGTGGAGGTAA	0.453000													30	83					0	0	0.00058488	0	0
FBXO39	162517	broad.mit.edu	37	17	6683194	6683194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:6683194G>A	ENST00000321535.4	+	2	137	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	3										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CTGGATGGACGAAGAAAGTGA	0.512000													14	17					0	0	0.000422831	0	0
OR5V1	81696	broad.mit.edu	37	6	29323035	29323035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29323035G>A	ENST00000377154.1	-	4	1237	c.938C>T	c.(937-939)tCc>tTc	p.S313F	OR5V1_ENST00000543825.1_Missense_Mutation_p.S313F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S313F(2)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCAAAGAGGAAATTGGTGG	0.358000													25	58					0	0	0.000586117	0	0
ZNF208	7757	broad.mit.edu	37	19	22156654	22156654	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22156654C>T	ENST00000397126.4	-	4	1330	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGTTTCTCTCCAGTAT	0.383000													30	50					0	0	0.00058488	0	0
CBX7	23492	broad.mit.edu	37	22	39530027	39530027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:39530027G>A	ENST00000216133.5	-	6	830	c.625C>T	c.(625-627)Cct>Tct	p.P209S	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.P116S	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	209					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GTCCAGGGAGGGGGCCCCTCG	0.667000													20	52					0	0	0.000586117	0	0
ABHD15	116236	broad.mit.edu	37	17	27889904	27889904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:27889904G>A	ENST00000307201.4	-	2	1252	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	361						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCACACACGGGGTCGTCAGC	0.607000													13	45					0	0	0.00185496	0	0
ORC1	4998	broad.mit.edu	37	1	52850381	52850381	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:52850381G>A	ENST00000371568.3	-	11	1814	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	ORC1_ENST00000371566.1_Silent_p.I532I	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	532	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGACACCGGAGATGTACATGC	0.517000													9	21					0	0	0.000442599	0	0
ASPM	259266	broad.mit.edu	37	1	197071057	197071057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:197071057G>A	ENST00000367409.4	-	18	7580	c.7324C>T	c.(7324-7326)Cga>Tga	p.R2442*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2442					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGGTGGCTCGATATTTCCTC	0.373000													27	60					0	0	0.001512	0	0
ZNF225	7768	broad.mit.edu	37	19	44635117	44635117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44635117C>T	ENST00000262894.6	+	5	630	c.350C>T	c.(349-351)tCc>tTc	p.S117F	ZNF225_ENST00000590612.1_Missense_Mutation_p.S117F|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTTCAAGACTCCATGGTAAAC	0.423000													58	155					0	0	0.000781405	0	0
SORCS3	22986	broad.mit.edu	37	10	106918660	106918660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:106918660C>T	ENST00000369701.3	+	11	1867	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	547						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)		CCCTTCTGTTCCTTACATCTG	0.468000													14	27					0	0	0.00121646	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217236	150217236	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:150217236C>T	ENST00000313543.4	+	2	331	c.174C>T	c.(172-174)gaC>gaT	p.D58D		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	58							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGAGAGACCTTCTTGTTG	0.527000													12	35					0	0	0.00136819	0	0
DNAH5	1767	broad.mit.edu	37	5	13900364	13900364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13900364G>A	ENST00000265104.4	-	15	2314	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	737	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGAAGAGGGAAGTTGCCAG	0.408000									Kartagener syndrome				20	46					0	0	0.00278032	0	0
KLK11	11012	broad.mit.edu	37	19	51527411	51527411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51527411G>A	ENST00000594768.1	-	4	634	c.449C>T	c.(448-450)tCg>tTg	p.S150L	KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Missense_Mutation_p.S118L|KLK11_ENST00000391804.3_Missense_Mutation_p.S143L|KLK11_ENST00000453757.3_Missense_Mutation_p.S118L	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	150	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GGAGACTGGCGATGCCATCTT	0.622000													5	20					0	0	0.00116845	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870042	151870042	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:151870042G>A	ENST00000329342.5	+	3	957	c.732G>A	c.(730-732)aaG>aaA	p.K244K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	244	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCCAAGAAGCTGCTCACCC	0.562000													45	33					0	0	0.00285205	0	0
CCDC73	493860	broad.mit.edu	37	11	32674768	32674768	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:32674768G>A	ENST00000335185.5	-	12	883	c.840C>T	c.(838-840)atC>atT	p.I280I	CCDC73_ENST00000534415.1_Intron	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	280										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AAGAAATGATGATATCCTTTG	0.303000													21	43					0	0	0.00188189	0	0
CLIP2	7461	broad.mit.edu	37	7	73752881	73752881	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:73752881C>T	ENST00000223398.6	+	3	552	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CLIP2_ENST00000361545.5_Silent_p.F75F|CLIP2_ENST00000395060.1_Silent_p.F75F	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	75						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATGACTTCCTGGGGGACT	0.682000													3	6					0	0	6.4e-05	0	0
ODF2	4957	broad.mit.edu	37	9	131247670	131247670	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131247670C>T	ENST00000303890.5	+	15	1830	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	ODF2_ENST00000448249.3_Silent_p.S358S|ODF2_ENST00000372807.5_Silent_p.S434S|ODF2_ENST00000393533.2_Silent_p.S439S|ODF2_ENST00000444119.2_Silent_p.S415S|ODF2_ENST00000372796.4_Silent_p.S439S|ODF2_ENST00000351030.3_Silent_p.S434S|ODF2_ENST00000546203.1_Silent_p.S420S|ODF2_ENST00000372791.3_Silent_p.S420S|ODF2_ENST00000434106.2_Silent_p.S439S|ODF2_ENST00000372814.3_Silent_p.S483S	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	439					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						AAGCTTTATCCACTCTGGAAT	0.507000													13	21					0	0	0.000308642	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999038	143999038	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:143999038C>T	ENST00000323110.2	-	1	221	c.219G>A	c.(217-219)caG>caA	p.Q73Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	73					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)	GCCCCAGCTCCTGGAAGGTCT	0.637000									Familial Hyperaldosteronism type I				12	37					0	0	0.00136819	0	0
CSMD3	114788	broad.mit.edu	37	8	113402921	113402921	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:113402921A>T	ENST00000297405.5	-	36	6150	c.5906T>A	c.(5905-5907)aTc>aAc	p.I1969N	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1929N|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1899N|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1865N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1969	CUB 11.					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						TGGCACTGTGATCTTCCACAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	36					0	0	0.00278032	0	0
DDX17	10521	broad.mit.edu	37	22	38881966	38881966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38881966G>A	ENST00000396821.3	-	13	2269	c.2170C>T	c.(2170-2172)Ccc>Tcc	p.P724S	DDX17_ENST00000444597.1_Missense_Mutation_p.P174S|DDX17_ENST00000381633.3_Missense_Mutation_p.P645S	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	643					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ggaggagggggaggaggagga	0.478000													23	33					0	0	0.00047179	0	0
ZNF703	80139	broad.mit.edu	37	8	37556185	37556185	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:37556185A>G	ENST00000331569.4	+	2	1995	c.1766A>G	c.(1765-1767)tAc>tGc	p.Y589C		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	589					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCGCTGGGATACCAGTAACTA	0.662000													4	21					0	0	0.00024832	0	0
UGT1A4	54657	broad.mit.edu	37	2	234628096	234628096	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:234628096G>A	ENST00000373409.3	+	1	673	c.630G>A	c.(628-630)agG>agA	p.R210R	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TCCTGCAAAGGGTCAAGAACA	0.453000													44	103					0	0	0.000680045	0	0
NTF3	4908	broad.mit.edu	37	12	5604142	5604142	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5604142C>T	ENST00000423158.3	+	2	1013	c.801C>T	c.(799-801)atC>atT	p.I267I	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.I254I	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	254					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGAGAAAAATCGGAAGAACAT	0.368000													10	13					0	0	0.000442599	0	0
ZNF827	152485	broad.mit.edu	37	4	146823949	146823949	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:146823949G>A	ENST00000508784.1	-	2	689	c.462C>T	c.(460-462)ctC>ctT	p.L154L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.L154L			Q17R98	ZN827_HUMAN	zinc finger protein 827	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGAAAAGGAGAGGTTCGAGC	0.577000													10	44					0	0	0.000673444	0	0
OR6C75	390323	broad.mit.edu	37	12	55759585	55759585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55759585C>T	ENST00000343399.3	+	1	691	c.691C>T	c.(691-693)Caa>Taa	p.Q231*		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTATGAGTCAAAGGAAAAA	0.383000													23	47					0	0	0.00278032	0	0
CD93	22918	broad.mit.edu	37	20	23064997	23064997	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:23064997C>T	ENST00000246006.4	-	1	1980	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	611					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCCCTCTTCGCTCTCCGCT	0.572000													41	85					0	0	0.00170553	0	0
HSPB9	94086	broad.mit.edu	37	17	40274945	40274945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:40274945G>A	ENST00000355067.3	+	1	190	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	26					response to stress	cytoplasm|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CTTGCTGAACGGAACCGGGTG	0.602000													22	39					0	0	0.00047179	0	0
RAI2	10742	broad.mit.edu	37	X	17818679	17818679	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:17818679C>T	ENST00000545871.1	-	3	1912	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	RAI2_ENST00000451717.1_Silent_p.G484G|RAI2_ENST00000415486.3_Silent_p.G434G|RAI2_ENST00000360011.1_Silent_p.G484G|RAI2_ENST00000331511.1_Silent_p.G484G	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	484					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGGACTCTTCCCCTTGGCTGT	0.478000													138	66					0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238280867	238280867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:238280867C>T	ENST00000295550.4	-	9	4245	c.3793G>A	c.(3793-3795)Ggc>Agc	p.G1265S	COL6A3_ENST00000347401.3_Missense_Mutation_p.G1064S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1059S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1065S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G858S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1059S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G1059S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G658S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1265	Nonhelical region.|VWFA 7.				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)		GTGTCAAAGCCCACGTCCAGG	0.582000													8	16					0	0	0.000157383	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558545	140558545	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140558545C>T	ENST00000239444.2	+	1	1175	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		310	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTTGATTTCGAAAAATTTC	0.383000													28	184					0	0	0.00127121	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469101	25469101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:25469101G>A	ENST00000264709.3	-	11	1694	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P453S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P264S|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P230S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	453					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTGGCTGGTGGAGGTGGT	0.557000			"""Mis, F, N, S"""		AML								31	83					0	0	0.00058488	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428361	1428361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:1428361G>A	ENST00000381524.3	+	13	1378	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E265K|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E398K|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E398K|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E432K|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G338E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	398						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GACCGTGAAGGAAATTACCTG	0.512000													43	102					0	0	0.0025221	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786421	121786421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:121786421G>A	ENST00000261367.7	+	12	3448	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	SNCAIP_ENST00000379538.3_Missense_Mutation_p.E261K|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E627K|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E567K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E674K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E229K|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E185K			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	627					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATTGGGAAAGGAAATCTCAGA	0.458000													25	30					0	0	0.000720815	0	0
ARID4B	51742	broad.mit.edu	37	1	235377134	235377134	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:235377134G>A	ENST00000264183.3	-	17	2288	c.1791C>T	c.(1789-1791)gtC>gtT	p.V597V	ARID4B_ENST00000366603.2_Silent_p.V597V|ARID4B_ENST00000349213.3_Intron	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.V597V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTCCACCTTCGACATCAGAAT	0.383000													42	93					0	0	0.00285205	0	0
PLCH1	23007	broad.mit.edu	37	3	155314091	155314091	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:155314091G>A	ENST00000460012.1	-	3	423	c.66C>T	c.(64-66)cgC>cgT	p.R22R	PLCH1_ENST00000340059.7_Silent_p.R40R|PLCH1_ENST00000414191.1_Silent_p.R22R|PLCH1_ENST00000334686.6_Silent_p.R22R|PLCH1_ENST00000494598.1_Silent_p.R40R|PLCH1_ENST00000447496.2_Silent_p.R40R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	40	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTAAAAGAGGCGGACAAGCC	0.468000													39	91					0	0	0.0025221	0	0
AFF1	4299	broad.mit.edu	37	4	88055746	88055746	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:88055746C>T	ENST00000307808.6	+	19	3831	c.3411C>T	c.(3409-3411)acC>acT	p.T1137T	AFF1_ENST00000544085.1_Silent_p.T776T|AFF1_ENST00000395146.4_Silent_p.T1145T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1137						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCCAGTCACCATCCAGAATA	0.552000													50	106					0	0	0.000781405	0	0
CFLAR	8837	broad.mit.edu	37	2	201994671	201994671	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:201994671T>C	ENST00000395148.2	+	2	295	c.83T>C	c.(82-84)gTt>gCt	p.V28A	CFLAR_ENST00000341582.6_Missense_Mutation_p.V28A|CFLAR_ENST00000423241.2_Missense_Mutation_p.V28A|CFLAR_ENST00000340870.5_Missense_Mutation_p.V28A|CFLAR_ENST00000457277.1_Missense_Mutation_p.V28A|CFLAR_ENST00000355558.4_Missense_Mutation_p.V28A|CFLAR_ENST00000342795.5_Missense_Mutation_p.V28A|CFLAR_ENST00000341222.6_Missense_Mutation_p.V28A|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000309955.2_Missense_Mutation_p.V28A|CFLAR_ENST00000440180.1_Missense_Mutation_p.V28A			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	28	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGCCGGGATGTTGCTATAGAT	0.473000													60	103					0	0	0.000781405	0	0
SULT6B1	391365	broad.mit.edu	37	2	37415677	37415677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:37415677G>A	ENST00000535679.1	-	1	106	c.107C>T	c.(106-108)cCc>cTc	p.P36L	SULT6B1_ENST00000260637.3_5'UTR|SULT6B1_ENST00000407963.1_5'UTR|SULT6B1_ENST00000379149.2_Missense_Mutation_p.P36L			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	36						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CATGGTGATGGGGTAAGGAAT	0.403000													30	28					0	0	0.00178596	0	0
SLC25A31	83447	broad.mit.edu	37	4	128694608	128694608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:128694608G>A	ENST00000281154.4	+	6	995	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	276					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAACATGAAGGAATCAGTTCC	0.378000													24	35					0	0	0.00278032	0	0
NOS1	4842	broad.mit.edu	37	12	117696204	117696204	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117696204C>T	ENST00000317775.6	-	16	3214	c.2529G>A	c.(2527-2529)agG>agA	p.R843R	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.R843R	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	843	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCACTTACTTCCTTTCTTCCT	0.493000													17	39					0	0	0.000958276	0	0
TRBC2	28638	broad.mit.edu	37	7	142499083	142499083	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142499083C>T	ENST00000466254.1	+	0	359																											TCACCCAGATCGTCAGCGCCG	0.597000													16	79					0	0	0.000566183	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109266	39109266	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:39109266G>A	ENST00000297668.6	-	15	2329	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	CNTNAP3_ENST00000377656.2_Silent_p.V751V|CNTNAP3_ENST00000358144.2_Silent_p.V664V	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	752	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGGGAAAGGACTATTGTGT	0.443000													7	19					0	0	0.000157383	0	0
TLE1	7088	broad.mit.edu	37	9	84230986	84230986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:84230986G>A	ENST00000376499.3	-	11	1893	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	277	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTTAGCAGGCGATTTTTGTCG	0.483000													74	103					0	0	0.000781405	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370608	86370608	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:86370608G>A	ENST00000400286.2	-	2	634	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	12						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TACAGGCAAGGAGAGATGAAT	0.408000													20	29					0	0	0.00188189	0	0
SPON1	10418	broad.mit.edu	37	11	14276093	14276093	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:14276093G>A	ENST00000310358.7	+	0	1445							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACCTTCAGCTGAATTTTCCGT	0.493000													13	28					0	0	0.000422831	0	0
FAM57B	83723	broad.mit.edu	37	16	30038064	30038064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30038064C>T	ENST00000380495.4	-	3	1041	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	FAM57B_ENST00000279389.4_Missense_Mutation_p.G54R|FAM57B_ENST00000564806.1_Missense_Mutation_p.G54R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	104	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTCCATGCCCTTTGACCTGG	0.602000													9	26					0	0	0.000442599	0	0
ZNF710	374655	broad.mit.edu	37	15	90610515	90610515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:90610515C>T	ENST00000268154.4	+	2	397	c.146C>T	c.(145-147)cCc>cTc	p.P49L		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GACCTGGGGCCCGAGCTTTCA	0.672000													16	5					0	0	0.000566183	0	0
GALNT6	11226	broad.mit.edu	37	12	51753032	51753032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:51753032G>A	ENST00000543196.2	-	7	1457	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	GALNT6_ENST00000356317.3_Missense_Mutation_p.P418S			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	418					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGCCCTTGGGGAAGGTGTGG	0.557000													41	112					0	0	0.00285205	0	0
PRKCI	5584	broad.mit.edu	37	3	170013699	170013699	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:170013699T>A	ENST00000295797.4	+	15	1723	c.1417_splice	c.e15-1	p.V473_splice		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	473	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATCTTTCTAGTTATTTTGGAA	0.303000													16	48					0	0	0.000566183	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:55131142G>A	ENST00000257290.5	+	5	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			49	83					0	0	0.000781405	0	0
DUSP10	11221	broad.mit.edu	37	1	221875831	221875831	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:221875831A>G	ENST00000366899.3	-	4	1610	c.1372T>C	c.(1372-1374)Ttc>Ctc	p.F458L	DUSP10_ENST00000323825.3_Missense_Mutation_p.F116L|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.F116L	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	458					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCTTCCTCGAACTCTAGCAAC	0.468000													40	120					0	0	0.00285205	0	0
COL14A1	7373	broad.mit.edu	37	8	121381652	121381652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:121381652C>T	ENST00000297848.3	+	47	5509	c.5239C>T	c.(5239-5241)Cct>Tct	p.P1747S	COL14A1_ENST00000309791.4_Missense_Mutation_p.P1747S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1652S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1747	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P1747S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTGGGGGTTCCTGGACCCCA	0.597000													19	48					0	0	0.00229938	0	0
FBXL2	25827	broad.mit.edu	37	3	33400467	33400467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:33400467C>T	ENST00000484457.1	+	3	165	c.74C>T	c.(73-75)tCc>tTc	p.S25F	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000538892.1_Missense_Mutation_p.S25F|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.S25F	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	25	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AGAATATTTTCCTTCTTGGAT	0.323000													12	14					0	0	0.00136819	0	0
GLP1R	2740	broad.mit.edu	37	6	39034008	39034008	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:39034008C>T	ENST00000373256.4	+	5	481	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	146					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCCTCTACATCATCTACACGG	0.612000													5	26					0	0	0.00198382	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677938	3677938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3677938G>A	ENST00000344754.4	-	9	2173	c.2174C>T	c.(2173-2175)gCc>gTc	p.A725V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A725V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	725	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGTCAAGTTGGCTTCTGTGCC	0.632000													10	31					0	0	0.000978159	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:215279114G>A	ENST00000312504.5	+	2	999	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	VWC2L_ENST00000427124.1_Missense_Mutation_p.R66Q|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000													16	22					0	0	0.000308642	0	0
NOL4	8715	broad.mit.edu	37	18	31537410	31537410	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:31537410C>T	ENST00000261592.5	-	8	1605	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Silent_p.K151K|NOL4_ENST00000538587.1_Silent_p.K362K|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	436						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAGCCTGGATCTTTTCTTTGG	0.478000													13	47					0	0	0.00185496	0	0
CELSR1	9620	broad.mit.edu	37	22	46780573	46780573	+	Silent	SNP	G	G	A	rs147996421	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:46780573G>A	ENST00000262738.3	-	20	6749	c.6750C>T	c.(6748-6750)gtC>gtT	p.V2250V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2250					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAAAGATGTCGACAGCAAGAA	0.517000													17	42					0	0	0.00188189	0	0
TENM3	55714	broad.mit.edu	37	4	183664419	183664419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:183664419C>T	ENST00000511685.1	+	19	3599	c.3476C>T	c.(3475-3477)tCc>tTc	p.S1159F	TENM3_ENST00000406950.2_Missense_Mutation_p.S1159F|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CGCAGCATTTCCTGCCCCAGT	0.537000													14	20					0	0	0.000308642	0	0
GPR97	222487	broad.mit.edu	37	16	57707306	57707306	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:57707306G>A	ENST00000333493.4	+	2	293	c.132G>A	c.(130-132)ttG>ttA	p.L44L	GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	44					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						TCTTCAACTTGAATGACAAGG	0.547000													18	23					0	0	0.00188189	0	0
TTI2	80185	broad.mit.edu	37	8	33360971	33360971	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:33360971A>T	ENST00000431156.2	-	6	1853	c.1235T>A	c.(1234-1236)cTt>cAt	p.L412H	TTI2_ENST00000520636.1_Missense_Mutation_p.L381H|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.L412H	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	412							binding										TTGCATGAGAAGTTTTAGGGT	0.428000													36	87					0	0	0.00058488	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757745	106757745	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:106757745G>A	ENST00000390611.2	-	0	285																											GAGATGGTGAGCCTGCTCTTC	0.527000													31	44					0	0	0.00283554	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464486	5464486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:5464486C>T	ENST00000296564.7	+	13	5261	c.5039C>T	c.(5038-5040)gCc>gTc	p.A1680V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1680	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGCCTCCTGCCATGTCTCCA	0.577000													62	113					0	0	0.000781405	0	0
MICALL1	85377	broad.mit.edu	37	22	38323579	38323579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38323579C>T	ENST00000215957.6	+	9	1753	c.1627C>T	c.(1627-1629)Cat>Tat	p.H543Y	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	543	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCCTGCTGTCCATGCCCCTGG	0.617000													32	60					0	0	0.0024448	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976638	41976638	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:41976638G>A	ENST00000372584.1	-	8	7716	c.6702C>T	c.(6700-6702)gcC>gcT	p.A2234A	HIVEP3_ENST00000429157.2_Silent_p.A2234A|HIVEP3_ENST00000372583.1_Silent_p.A2235A|HIVEP3_ENST00000247584.5_Silent_p.A2235A|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2235					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGCCTCCCGGGCCCCTGTCA	0.697000													25	24					0	0	0.00106085	0	0
SIM1	6492	broad.mit.edu	37	6	100841753	100841753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:100841753G>A	ENST00000369208.3	-	11	1962	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	SIM1_ENST00000262901.4_Missense_Mutation_p.H394Y			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	394	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTTCTGTGTGAAATCCCGAA	0.478000													8	37					0	0	0.000274275	0	0
FOXB1	27023	broad.mit.edu	37	15	60297304	60297304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:60297304C>T	ENST00000396057.4	+	2	621	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	48					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GGACCGCTTCCCCTACTACAG	0.597000													22	29					0	0	0.00152264	0	0
COL14A1	7373	broad.mit.edu	37	8	121298182	121298182	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:121298182G>A	ENST00000297848.3	+	33	4320	c.4050G>A	c.(4048-4050)agG>agA	p.R1350R	COL14A1_ENST00000309791.4_Silent_p.R1350R|COL14A1_ENST00000247781.3_Silent_p.R1255R	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1350	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTGAAATTAGGAAAATTTTTT	0.303000													15	40					0	0	0.000422831	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951736	119951736	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:119951736C>T	ENST00000307142.4	+	4	2002	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	SYNPO2_ENST00000429713.2_Silent_p.P602P|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.P602P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	602	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCTACCCCCTTCTCGCCAA	0.567000													31	63					0	0	0.00283554	0	0
LARP1	23367	broad.mit.edu	37	5	154174820	154174820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:154174820C>T	ENST00000336314.4	+	8	1111	c.1087C>T	c.(1087-1089)Ctt>Ttt	p.L363F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	440							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCCATCACCCTTATTGCTTC	0.493000													13	41					0	0	0.00244969	0	0
DSG3	1830	broad.mit.edu	37	18	29046704	29046704	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:29046704C>T	ENST00000257189.4	+	11	1706	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	541					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATGGAGTATCACAACCCTCA	0.423000													18	43					0	0	0.000958276	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814447	23814447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:23814447C>T	ENST00000264867.2	-	10	2061	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	648					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CGATATTCTTCCCTCTTCAGC	0.468000													55	103					0	0	0.000781405	0	0
CNTRL	11064	broad.mit.edu	37	9	123886359	123886359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:123886359G>A	ENST00000373855.1	+	13	2061	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	CNTRL_ENST00000373850.1_Missense_Mutation_p.E49K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E601K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E49K			Q7Z7A1	CNTRL_HUMAN	centriolin	601					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAGCTTACTGAAGGTAAGAC	0.348000													31	71					0	0	0.0024448	0	0
CDK18	5129	broad.mit.edu	37	1	205497015	205497015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205497015G>A	ENST00000360066.2	+	9	1124	c.823G>A	c.(823-825)Gag>Aag	p.E275K	CDK18_ENST00000506784.1_Missense_Mutation_p.E305K|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Missense_Mutation_p.E275K	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	273	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GCTCATCAACGAGAGGGGGGA	0.647000													17	45					0	0	0.00188189	0	0
DRG1	4733	broad.mit.edu	37	22	31829903	31829903	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:31829903G>A	ENST00000331457.4	+	9	1211	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	350					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CTCAGAAAGTGGGTAAAGACC	0.463000													23	60					0	0	0.000878237	0	0
CACNG3	10368	broad.mit.edu	37	16	24373007	24373007	+	Silent	SNP	C	C	T	rs144805488		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:24373007C>T	ENST00000005284.3	+	4	1973	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	257					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCCACACCATCCCTTCCACTG	0.592000													16	50					0	0	0.000308642	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253727	81253727	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:81253727C>T	ENST00000599697.1	-	1	248	c.249G>A	c.(247-249)agG>agA	p.R83R	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	83	C-type lectin.				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						TCCACCATTCCCTGTCCTGGG	0.537000													14	27					0	0	0.00244969	0	0
TSLP	85480	broad.mit.edu	37	5	110407731	110407731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:110407731C>T	ENST00000420978.2	+	2	1565	c.143C>T	c.(142-144)tCt>tTt	p.S48F	TSLP_ENST00000344895.3_Missense_Mutation_p.S48F			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	48						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTACTATTTCTAAAGACCTG	0.358000													18	46					0	0	0.00121646	0	0
ANK3	288	broad.mit.edu	37	10	61833876	61833876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:61833876G>A	ENST00000280772.1	-	37	6954	c.6763C>T	c.(6763-6765)Cat>Tat	p.H2255Y	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2255					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTGGAGAATGATAAACCATT	0.463000													32	55					0	0	0.000692331	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:143767740G>A	ENST00000419275.1	-	1	141	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCAGAGCACGAAAGTTTTCT	0.478000													54	218					0	0	0.000781405	0	0
ITGA7	3679	broad.mit.edu	37	12	56090745	56090745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:56090745C>T	ENST00000257880.7	-	13	2026	c.1807G>A	c.(1807-1809)Ggc>Agc	p.G603S	ITGA7_ENST00000394230.2_Missense_Mutation_p.G563S|ITGA7_ENST00000555728.1_Missense_Mutation_p.G603S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G559S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G466S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G559S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G553S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G563S			Q13683	ITA7_HUMAN	integrin, alpha 7	603					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACACGGTGCCCGAGGCCTGG	0.602000													14	21					0	0	0.000308642	0	0
BRSK1	84446	broad.mit.edu	37	19	55817700	55817700	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55817700C>T	ENST00000309383.1	+	17	2248	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	BRSK1_ENST00000326848.7_Silent_p.F352F|BRSK1_ENST00000590333.1_Silent_p.F673F	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	657					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTCCGTCTTCCAAAAGCCCG	0.637000													12	34					0	0	0.00244969	0	0
AGO3	192669	broad.mit.edu	37	1	36439011	36439011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:36439011C>T	ENST00000373191.4	+	5	906	c.557C>T	c.(556-558)cCa>cTa	p.P186L	AGO3_ENST00000324350.5_Missense_Mutation_p.P186L|AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.P186L	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		TTCTCCGCTCCAGAAGGATAT	0.443000													63	77					0	0	0.000781405	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18806878	18806878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:18806878G>A	ENST00000304414.7	-	4	527	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	ARL6IP1_ENST00000546206.2_Missense_Mutation_p.H77Y|ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.H106Y	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	106						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CAAATTTCATGGAATCTTTGC	0.378000													15	29					0	0	0.000308642	0	0
PSAT1	29968	broad.mit.edu	37	9	80916931	80916931	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:80916931G>A	ENST00000376588.3	+	3	251	c.183G>A	c.(181-183)cgG>cgA	p.R61R	PSAT1_ENST00000347159.2_Silent_p.R61R	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	61					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATCTTGTGCGGGAATTGCTGT	0.318000													12	45					0	0	0.00136819	0	0
HJURP	55355	broad.mit.edu	37	2	234749336	234749336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:234749336G>A	ENST00000411486.2	-	8	2155	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	HJURP_ENST00000432087.1_Missense_Mutation_p.S643F|HJURP_ENST00000441687.1_Missense_Mutation_p.S612F	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	697					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCACCCAGGGAATTGCCCTG	0.597000													19	73					0	0	0.00121646	0	0
SCEL	8796	broad.mit.edu	37	13	78214846	78214846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:78214846G>A	ENST00000535157.1	+	29	1918	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q	SCEL_ENST00000377246.3_Missense_Mutation_p.R605Q|SCEL_ENST00000349847.3_Missense_Mutation_p.R625Q	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	625					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACTTACTGCCGAAAACCCTTG	0.313000													24	41					0	0	0.00127121	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658837	72658837	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72658837G>A	ENST00000425256.1	-	0	1074					NR_002164.1																						gtacttccacgaagaaaaatg	0.413000													59	151					0	0	0.000781405	0	0
SZT2	23334	broad.mit.edu	37	1	43909141	43909141	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:43909141A>T	ENST00000562955.1	+	60	8447	c.8447A>T	c.(8446-8448)gAc>gTc	p.D2816V	SZT2_ENST00000372442.1_Missense_Mutation_p.D1974V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2873						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGACCCCCTGACGGGCAGGTA	0.612000													16	16					0	0	0.00121646	0	0
CAPSL	133690	broad.mit.edu	37	5	35904728	35904728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35904728C>T	ENST00000397367.2	-	5	672	c.546G>A	c.(544-546)atG>atA	p.M182I	CAPSL_ENST00000397366.1_Missense_Mutation_p.M182I	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	182	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CATAGTAGTTCATGAACTCCT	0.478000													26	57					0	0	0.00106085	0	0
HYAL4	23553	broad.mit.edu	37	7	123509272	123509272	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:123509272C>T	ENST00000223026.4	+	3	1583	c.945C>T	c.(943-945)ttC>ttT	p.F315F	HYAL4_ENST00000476325.1_Silent_p.F315F	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	315					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTATTTTTCCTTTCTAAGG	0.378000													7	16					0	0	0.00198382	0	0
PDS5A	23244	broad.mit.edu	37	4	39929623	39929623	+	Silent	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:39929623G>T	ENST00000303538.8	-	3	839	c.300C>A	c.(298-300)atC>atA	p.I100I	PDS5A_ENST00000503396.1_Silent_p.I100I	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	100					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGGGGCATAGATACGAAAGA	0.398000													7	19					1.06961e-07	4.15818e-07	0.000157383	1	0
BTN1A1	696	broad.mit.edu	37	6	26508953	26508953	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:26508953A>T	ENST00000244513.6	+	7	1198	c.1132A>T	c.(1132-1134)Aat>Tat	p.N378Y		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	378	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GTGTAGGGAGAATGTGATGAA	0.557000													30	124					0	0	0.00209593	0	0
MUC16	94025	broad.mit.edu	37	19	9077276	9077276	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9077276G>A	ENST00000397910.4	-	3	10373	c.10170C>T	c.(10168-10170)acC>acT	p.T3390T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3391	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						CCCATGTCTCGGTTTTATGTT	0.443000													70	167					0	0	0.000781405	0	0
TPO	7173	broad.mit.edu	37	2	1457514	1457514	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:1457514C>T	ENST00000345913.4	+	6	622	c.531C>T	c.(529-531)ctC>ctT	p.L177L	TPO_ENST00000382201.3_Silent_p.L177L|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.L177L|TPO_ENST00000382198.1_Silent_p.L177L|TPO_ENST00000349624.3_Silent_p.L177L|TPO_ENST00000346956.3_Silent_p.L177L|TPO_ENST00000337415.3_Silent_p.L177L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	177					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACGATGGCTCCCTCCAGTCT	0.597000													27	60					0	0	0.000878237	0	0
FLNC	2318	broad.mit.edu	37	7	128495345	128495345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128495345C>T	ENST00000325888.8	+	43	7489	c.7228C>T	c.(7228-7230)Cgt>Tgt	p.R2410C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2377C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2410	Interaction with INPPL1.				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						TGACGCTCGCCGTCTCACTGT	0.592000													17	32					0	0	0.00074312	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819696	74819696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:74819696C>T	ENST00000370895.1	+	13	1398	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455C|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R455C|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R455C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354C			Q59H18	TNI3K_HUMAN		354						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.R354C(1)									CGGTCACATTCGCCTGGTTCA	0.398000													57	46					0	0	0.000781405	0	0
PHC3	80012	broad.mit.edu	37	3	169820598	169820598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169820598G>A	ENST00000494943.1	-	13	2625	c.2557C>T	c.(2557-2559)Ctt>Ttt	p.L853F	PHC3_ENST00000467570.1_Missense_Mutation_p.L812F|PHC3_ENST00000495893.1_Missense_Mutation_p.L865F			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	853					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ACCTGCCTAAGGATATGTTCT	0.443000													18	32					0	0	0.00188189	0	0
KCNC3	3748	broad.mit.edu	37	19	50827028	50827028	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50827028G>A	ENST00000376959.2	-	2	1345	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	KCNC3_ENST00000477616.1_Silent_p.L394L|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	394					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGCCCACCTCGAGATAGAAGG	0.587000													17	27					0	0	0.00074312	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74394547	74394547	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:74394547G>A	ENST00000429810.2	-	0	418																											TGCTCCAAAAGGACAATATCC	0.552000													13	37					0	0	0.000308642	0	0
PPIG	9360	broad.mit.edu	37	2	170460756	170460756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:170460756C>T	ENST00000260970.3	+	4	341	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	PPIG_ENST00000462903.1_Missense_Mutation_p.R41C|PPIG_ENST00000448752.2_Missense_Mutation_p.R41C|PPIG_ENST00000409714.3_Missense_Mutation_p.R41C	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	41	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGAGAACTTTCGTTGTCTTTG	0.343000													41	97					0	0	0.000781405	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962505	69962505	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:69962505C>T	ENST00000305231.7	+	1	313	c.267C>T	c.(265-267)ttC>ttT	p.F89F	UGT2B7_ENST00000508661.1_Silent_p.F89F|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	89					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGAGAATTTCATCATGCAAC	0.338000													22	51					0	0	0.00152264	0	0
APOL1	8542	broad.mit.edu	37	22	36661836	36661836	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:36661836G>A	ENST00000319136.4	+	7	1269	c.1002G>A	c.(1000-1002)gtG>gtA	p.V334V	APOL1_ENST00000426053.1_Silent_p.V300V|APOL1_ENST00000397278.3_Silent_p.V318V|APOL1_ENST00000397279.4_Silent_p.V318V|APOL1_ENST00000347595.7_Silent_p.V197V|APOL1_ENST00000422706.1_Silent_p.V318V	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	318					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GTGAACAGGTGGAGAGGGTTA	0.557000													22	39					0	0	0.00188189	0	0
RFX6	222546	broad.mit.edu	37	6	117246660	117246660	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117246660C>T	ENST00000332958.2	+	16	1739	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	575					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCATGCTTTCTGGCCAACCG	0.458000													62	112					0	0	0.000781405	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477027	20477027	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:20477027G>A	ENST00000573854.1	+	3	480	c.366G>A	c.(364-366)gtG>gtA	p.V122V	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.V122V|ACSM2A_ENST00000575690.1_Silent_p.V122V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.V122V|ACSM2A_ENST00000219054.6_Silent_p.V122V|ACSM2A_ENST00000417235.2_Silent_p.V43V	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	122					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGTGGCTGGTGATCCTGGGCT	0.587000													7	22					0	0	0.00198382	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020207	156020207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156020207G>A	ENST00000368309.3	-	4	708	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	UBQLN4_ENST00000368307.1_Intron|UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	206						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					ATCATATCCTGGACCAGGGGG	0.547000													27	69					0	0	0.00178596	0	0
SCN9A	6335	broad.mit.edu	37	2	167108321	167108321	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:167108321C>T	ENST00000375387.4	-	18	3769	c.3429G>A	c.(3427-3429)gaG>gaA	p.E1143E	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.E1143E|SCN9A_ENST00000409435.1_Silent_p.E1142E|SCN9A_ENST00000409672.1_Silent_p.E1131E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1142						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAGGTTCAGCCTCTGCTTCTT	0.463000													14	40					0	0	0.00244969	0	0
FER1L6	654463	broad.mit.edu	37	8	125076785	125076785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:125076785C>T	ENST00000522917.1	+	26	3732	c.3526C>T	c.(3526-3528)Cag>Tag	p.Q1176*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.Q1176*|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1176						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCTGTAGCCCAGGAGCCACC	0.532000													11	28					0	0	0.000978159	0	0
PLB1	151056	broad.mit.edu	37	2	28775804	28775804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:28775804G>A	ENST00000422425.2	+	17	1170	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PLB1_ENST00000329020.6_Missense_Mutation_p.G53R|PLB1_ENST00000327757.5_Missense_Mutation_p.G365R	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	365	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)					GGTAAGAGAAGGAGCGGAAAT	0.443000													40	102					0	0	0.00285205	0	0
USP33	23032	broad.mit.edu	37	1	78183733	78183733	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:78183733C>T	ENST00000370793.1	-	18	2177		c.e18-1		USP33_ENST00000370794.3_Splice_Site|USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370792.3_Splice_Site	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33						axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGCACAAAATCTAAAAAAGAA	0.308000													34	52					0	0	0.000692331	0	0
WRNIP1	56897	broad.mit.edu	37	6	2779539	2779539	+	Silent	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:2779539T>C	ENST00000380769.4	+	4	870	c.639T>C	c.(637-639)gcT>gcC	p.A213A	WRNIP1_ENST00000380764.1_Silent_p.A49A|WRNIP1_ENST00000380771.4_Silent_p.A408A|WRNIP1_ENST00000380773.4_Silent_p.A433A			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	433					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ACACCCTGGCTTACCTCAGTG	0.537000													19	80					0	0	0.00278032	0	0
COL4A4	1286	broad.mit.edu	37	2	227920746	227920746	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:227920746C>T	ENST00000396625.3	-	30	2838	c.2631G>A	c.(2629-2631)cgG>cgA	p.R877R	COL4A4_ENST00000329662.7_Silent_p.R877R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	877	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)		GTGCCCCAGGCCGTCCTGGGA	0.622000													12	26					0	0	0.000978159	0	0
XIRP2	129446	broad.mit.edu	37	2	168103798	168103798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168103798C>T	ENST00000409195.1	+	9	5985	c.5896C>T	c.(5896-5898)Cag>Tag	p.Q1966*	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1966*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q1744*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1791					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATATTCATCAGGTTGCTGT	0.448000													17	36					0	0	0.000566183	0	0
C9orf114	51490	broad.mit.edu	37	9	131589467	131589467	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131589467C>A	ENST00000361256.5	-	4	252	c.212G>T	c.(211-213)cGg>cTg	p.R71L		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	71										kidney(2)|large_intestine(4)|ovary(1)	7						TGTGTAGGGCCGCCCTGAGCA	0.617000													11	21					0.000673444	0.0026062	0.000673444	1	0
FAM135A	57579	broad.mit.edu	37	6	71234783	71234783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:71234783C>T	ENST00000418814.2	+	15	2610	c.1996C>T	c.(1996-1998)Cct>Tct	p.P666S	FAM135A_ENST00000457062.2_Missense_Mutation_p.P453S|FAM135A_ENST00000370479.3_Missense_Mutation_p.P453S|FAM135A_ENST00000361499.3_Missense_Mutation_p.P470S|FAM135A_ENST00000505868.1_Missense_Mutation_p.P666S|FAM135A_ENST00000505769.1_Missense_Mutation_p.P470S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	666										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAATAAAGATCCTTTCAGTGG	0.403000													20	42					0	0	0.000958276	0	0
OR2F1	26211	broad.mit.edu	37	7	143657981	143657981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143657981G>A	ENST00000392899.1	+	1	955	c.918G>A	c.(916-918)tgG>tgA	p.W306*		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W306C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AACTATTATGGAAATTCTCTG	0.433000													14	46					0	0	0.00185496	0	0
IBTK	25998	broad.mit.edu	37	6	82924095	82924095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:82924095C>T	ENST00000306270.7	-	12	2602	c.2053G>A	c.(2053-2055)Gtt>Att	p.V685I	IBTK_ENST00000510291.1_Missense_Mutation_p.V685I|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	685					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTTTGTAAACTTCAAATGCA	0.333000													23	76					0	0	0.00278032	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126557	31126557	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:31126557G>A	ENST00000304166.4	+	11	1113	c.823_splice	c.e11-1	p.G275_splice	ADCYAP1R1_ENST00000409489.1_Splice_Site_p.G275_splice|ADCYAP1R1_ENST00000409363.1_Splice_Site_p.G254_splice|ADCYAP1R1_ENST00000396211.2_Splice_Site_p.G275_splice	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	275					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTTCTCCCAGGGACCCCAACT	0.537000													27	81					0	0	0.00283554	0	0
MGAM	8972	broad.mit.edu	37	7	141722180	141722180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141722180C>T	ENST00000475668.2	+	7	877	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MGAM_ENST00000549489.2_Missense_Mutation_p.R275W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	275	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGCAGTATCGGCATGATAT	0.493000													38	75					0	0	0.0025221	0	0
DTX3L	151636	broad.mit.edu	37	3	122287933	122287933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122287933C>T	ENST00000296161.4	+	3	1186	c.997C>T	c.(997-999)Ctt>Ttt	p.L333F	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	333					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TACAAAGCTCCTTATAAAGGA	0.398000													44	126					0	0	0.000680045	0	0
GLRB	2743	broad.mit.edu	37	4	158057999	158057999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:158057999C>T	ENST00000264428.4	+	6	841	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.P191S|GLRB_ENST00000541722.1_Missense_Mutation_p.P191S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	191					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GACATTGTTTCCCATGGATAC	0.348000													21	38					0	0	0.00229938	0	0
GATSL3	652968	broad.mit.edu	37	22	30682330	30682330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:30682330G>A	ENST00000407689.3	-	6	794	c.665C>T	c.(664-666)cCc>cTc	p.P222L	GATSL3_ENST00000404953.3_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						GATGGAGCTGGGTTCAGGACT	0.582000													23	43					0	0	0.000720815	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759211	121759211	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:121759211A>T	ENST00000261367.7	+	6	2348	c.920A>T	c.(919-921)aAc>aTc	p.N307I	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.N307I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.N260I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.N260I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.N307I|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	260					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACTTCCTAAACAAGACATTT	0.473000													12	28					0	0	0.000978159	0	0
ZNF560	147741	broad.mit.edu	37	19	9579814	9579814	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9579814A>G	ENST00000301480.4	-	9	792	c.579T>C	c.(577-579)aaT>aaC	p.N193N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTAAACAAAAATTATCTTGCC	0.313000													9	17					0	0	0.00136819	0	0
ADCY1	107	broad.mit.edu	37	7	45743296	45743296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:45743296G>A	ENST00000297323.7	+	16	2691	c.2669G>A	c.(2668-2670)gGg>gAg	p.G890E		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	890					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AACAACATGGGGGTGGAGTGT	0.582000													30	62					0	0	0.000814825	0	0
PLCB4	5332	broad.mit.edu	37	20	9319670	9319670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:9319670C>T	ENST00000378501.2	+	4	370	c.355C>T	c.(355-357)Cca>Tca	p.P119S	PLCB4_ENST00000378473.3_Missense_Mutation_p.P119S|PLCB4_ENST00000414679.2_Missense_Mutation_p.P119S|PLCB4_ENST00000378493.1_Missense_Mutation_p.P119S|PLCB4_ENST00000334005.3_Missense_Mutation_p.P119S|PLCB4_ENST00000278655.4_Missense_Mutation_p.P119S|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	119					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCTGAAAATCCAGAAGTAAC	0.378000													15	33					0	0	0.000958276	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879386	3879386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:3879386G>A	ENST00000315677.3	-	4	1278	c.683C>T	c.(682-684)cCc>cTc	p.P228L	DLGAP1_ENST00000515196.2_Missense_Mutation_p.P228L|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.P228L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P228L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	228					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGAGCGGTCGGGGCACCTGCC	0.652000													29	43					0	0	0.001512	0	0
UBA1	7317	broad.mit.edu	37	X	47065788	47065788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:47065788C>T	ENST00000335972.6	+	16	2066	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	UBA1_ENST00000377351.4_Missense_Mutation_p.S628F|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	628					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTGAGAAGTCCATCCCCATC	0.572000													11	12					0	0	0.00185496	0	0
CA8	767	broad.mit.edu	37	8	61178492	61178492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:61178492G>A	ENST00000317995.4	-	3	673	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	137					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)				ACCTCCATGGGAAAAGCTTTG	0.358000													9	24					0	0	0.000978159	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077592	19077592	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:19077592G>A	ENST00000329773.2	-	2	445	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	120					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACGGTGCTCAGCATGCTCAGG	0.587000													18	55					0	0	0.00074312	0	0
PSG4	5672	broad.mit.edu	37	19	43699191	43699191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43699191C>T	ENST00000405312.3	-	4	1181	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG4_ENST00000433626.2_Missense_Mutation_p.R222Q|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.488000													58	119					0	0	0.000781405	0	0
PRRC2B	84726	broad.mit.edu	37	9	134366900	134366900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:134366900C>T	ENST00000357304.4	+	28	6369	c.6314C>T	c.(6313-6315)tCc>tTc	p.S2105F	PRRC2B_ENST00000405995.1_Missense_Mutation_p.S1411F|PRRC2B_ENST00000372249.1_Missense_Mutation_p.S202F|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S1411F|PRRC2B_ENST00000465931.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2105							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGAGCCTCTCCGTTGGGGCC	0.672000													8	31					0	0	0.000157383	0	0
MYH11	4629	broad.mit.edu	37	16	15841453	15841453	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:15841453C>T	ENST00000338282.6	-	19	2491	c.2385G>A	c.(2383-2385)gcG>gcA	p.A795A	MYH11_ENST00000300036.5_Silent_p.A795A|MYH11_ENST00000396324.3_Silent_p.A802A|MYH11_ENST00000452625.2_Silent_p.A802A|MYH11_ENST00000576790.1_Silent_p.A795A	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	795	IQ.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CACGACACATCGCCTGGAAGG	0.512000			T	CBFB	AML								28	62					0	0	0.00058488	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869685	50869685	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:50869685C>T	ENST00000359139.3	+	11	1603	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	PPP6R2_ENST00000216061.5_Silent_p.A403A|PPP6R2_ENST00000395741.3_Silent_p.A404A|PPP6R2_ENST00000395744.3_Silent_p.A403A	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	403						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCCACGCTGCCCGTGAGGAGA	0.577000													39	64					0	0	0.00195071	0	0
KLHL1	57626	broad.mit.edu	37	13	70293634	70293634	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:70293634T>C	ENST00000377844.4	-	9	2641	c.1882A>G	c.(1882-1884)Aac>Gac	p.N628D	KLHL1_ENST00000545028.1_Missense_Mutation_p.N435D	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	628					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCACACATGTTCCACTTATTT	0.428000													23	49					0	0	0.00278032	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601606	58601606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:58601606G>A	ENST00000240727.6	-	2	428	c.29C>T	c.(28-30)tCc>tTc	p.S10F	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S10F|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S66F	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	10					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTCCTGGGGGAGGCAAACGC	0.622000													21	37					0	0	0.00278032	0	0
EPB41L2	2037	broad.mit.edu	37	6	131191166	131191166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:131191166G>A	ENST00000337057.3	-	15	2325	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S715L|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S93L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	715					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ACTCCCAGGTGATATCTCTTT	0.488000													6	26					0	0	0.00116845	0	0
FRMPD2	143162	broad.mit.edu	37	10	49392706	49392706	+	Silent	SNP	C	C	T	rs115484322	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:49392706C>T	ENST00000374201.3	-	20	2789	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	FRMPD2_ENST00000407470.4_Silent_p.L797L|FRMPD2_ENST00000305531.3_Silent_p.L804L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	829	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGATGTGATTCAGGGCTAGTA	0.358000													14	16					0	0	0.000308642	0	0
ART3	419	broad.mit.edu	37	4	77003064	77003064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:77003064C>T	ENST00000355810.4	+	3	276	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	ART3_ENST00000349321.3_Missense_Mutation_p.P53S|ART3_ENST00000341029.5_Missense_Mutation_p.P53S|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	53					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAAATACGTTCCCCAACTGCT	0.413000													37	73					0	0	0.000814825	0	0
FAT3	120114	broad.mit.edu	37	11	92534702	92534702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:92534702G>A	ENST00000298047.6	+	9	8540	c.8523G>A	c.(8521-8523)atG>atA	p.M2841I	FAT3_ENST00000409404.2_Missense_Mutation_p.M2841I|FAT3_ENST00000525166.1_Missense_Mutation_p.M2691I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2841	Cadherin 26.				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)				CTATTGATATGGACTGGGGAG	0.468000										TCGA Ovarian(4;0.039)			106	112					0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117691472	117691472	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117691472A>T	ENST00000317775.6	-	17	3304	c.2619T>A	c.(2617-2619)ttT>ttA	p.F873L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.F907L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	873	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCACTCTCAAAGTTGTCTC	0.552000													26	73					0	0	0.00127121	0	0
SCN2A	6326	broad.mit.edu	37	2	166188051	166188051	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:166188051C>T	ENST00000375437.2	+	14	2651	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	SCN2A_ENST00000375427.2_Silent_p.F787F|SCN2A_ENST00000357398.3_Silent_p.F787F|SCN2A_ENST00000283256.6_Silent_p.F787F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	787					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)	CGGAGCAGTTCAGCAGTGTAC	0.428000													16	30					0	0	0.000566183	0	0
ANK3	288	broad.mit.edu	37	10	61898789	61898789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:61898789C>T	ENST00000280772.1	-	24	2862	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	ANK3_ENST00000373827.2_Missense_Mutation_p.E885K|ANK3_ENST00000355288.2_Missense_Mutation_p.E25K|ANK3_ENST00000503366.1_Missense_Mutation_p.E892K|ANK3_ENST00000460468.1_Missense_Mutation_p.E55K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	891					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCACCCAATTCCTTAAGGTCC	0.483000													22	31					0	0	0.00188189	0	0
MIR526A2	574486	broad.mit.edu	37	19	54230225	54230225	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:54230225C>T	ENST00000390198.1	+	0	50					NR_030208.1																						GAACATGCATCCTTTCAGAGG	0.418000													24	69					0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	8999533	8999533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8999533C>T	ENST00000397910.4	-	56	40845	c.40642G>A	c.(40642-40644)Gat>Aat	p.D13548N	MUC16_ENST00000380951.5_Missense_Mutation_p.D189N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13550	SEA 10.			Missing (in Ref. 3; AAK74120).	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						CAGATGGCATCCACTTTGGTG	0.582000													12	34					0	0	0.00136819	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069714	114069714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:114069714G>A	ENST00000462705.1	-	11	1813	c.992C>T	c.(991-993)gCt>gTt	p.A331V	ZBTB20_ENST00000481632.1_Missense_Mutation_p.A331V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A331V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A404V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A331V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A331V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A331V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGTGGGTTCAGCCTGGCTGTC	0.632000													17	34					0	0	0.00121646	0	0
ABL2	27	broad.mit.edu	37	1	179084119	179084119	+	Silent	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179084119T>C	ENST00000502732.1	-	9	1658	c.1455A>G	c.(1453-1455)ccA>ccG	p.P485P	ABL2_ENST00000408940.3_Silent_p.P449P|ABL2_ENST00000344730.3_Silent_p.P470P|ABL2_ENST00000392043.3_Silent_p.P464P|ABL2_ENST00000504405.1_Silent_p.P449P|ABL2_ENST00000367623.4_Silent_p.P464P|ABL2_ENST00000511413.1_Silent_p.P485P|ABL2_ENST00000512653.1_Silent_p.P470P|ABL2_ENST00000507173.1_Silent_p.P464P	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	485	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TACCTGGATATGGTGACATTC	0.393000			T	ETV6	AML								29	83					0	0	0.00128727	0	0
OR9A2	135924	broad.mit.edu	37	7	142723739	142723739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142723739G>A	ENST00000350513.2	-	1	543	c.481C>T	c.(481-483)Cag>Tag	p.Q161*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	161					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)					AAGGTAAACTGAAATGTGGCA	0.403000													24	48					0	0	0.00229938	0	0
SEMA3F	6405	broad.mit.edu	37	3	50214261	50214261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:50214261G>A	ENST00000002829.3	+	7	1094	c.610G>A	c.(610-612)Gat>Aat	p.D204N	SEMA3F_ENST00000413852.1_Missense_Mutation_p.D105N|SEMA3F_ENST00000434342.1_Missense_Mutation_p.D173N	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	204	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTGTCCGTACGATCCCAAGCT	0.607000													34	36					0	0	0.00128727	0	0
KRT27	342574	broad.mit.edu	37	17	38936698	38936698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:38936698C>T	ENST00000301656.3	-	3	578	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGCGCTAGCTCGTTTTCAAAC	0.453000													17	19					0	0	0.00229938	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:3387672C>T	ENST00000011898.5	+	4	310	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_ENST00000537971.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000407263.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000492305.1_3'UTR	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	50						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000													23	50					0	0	0.00229938	0	0
SLX4	84464	broad.mit.edu	37	16	3633257	3633257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:3633257G>A	ENST00000294008.3	-	14	5634	c.4994C>T	c.(4993-4995)cCc>cTc	p.P1665L	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1665	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGATGTCGGGGGCCCTTGGT	0.622000								Direct reversal of damage					11	43					0	0	0.000673444	0	0
ZNF229	7772	broad.mit.edu	37	19	44934018	44934018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44934018C>T	ENST00000291187.4	-	6	1242	c.920G>A	c.(919-921)aGa>aAa	p.R307K	ZNF229_ENST00000588931.1_Missense_Mutation_p.R313K|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGGAACTCTTTGATGTCT	0.507000													5	21					0	0	0.00198382	0	0
RUFY3	22902	broad.mit.edu	37	4	71648890	71648890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71648890C>T	ENST00000226328.4	+	9	1540	c.977C>T	c.(976-978)tCc>tTc	p.S326F	RUFY3_ENST00000417478.2_Missense_Mutation_p.S386F|RUFY3_ENST00000502653.1_Missense_Mutation_p.S273F|RUFY3_ENST00000536664.1_Missense_Mutation_p.S310F|RUFY3_ENST00000381006.3_Missense_Mutation_p.S326F	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	326					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATACTGGAATCCAATCGGAAG	0.353000													12	20					0	0	0.00244969	0	0
LCN9	392399	broad.mit.edu	37	9	138556091	138556091	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:138556091C>T	ENST00000277526.3	+	2	180	c.180C>T	c.(178-180)gtC>gtT	p.V60V	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	60						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GGGTCTTCGTCCGGAATATTG	0.468000													29	95					0	0	0.0024448	0	0
USP43	124739	broad.mit.edu	37	17	9632076	9632076	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:9632076C>T	ENST00000570827.2	+	15	3282	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	USP43_ENST00000285199.6_Silent_p.I1047I|USP43_ENST00000570475.1_Silent_p.I1042I			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1047					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCTCAGGATCCCAGAGGGCC	0.706000													9	2					0	0	0.000274275	0	0
SSPO	23145	broad.mit.edu	37	7	149500813	149500813	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:149500813G>A	ENST00000378016.2	+	0	8131							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAACCAGGGGGCTGCCCCCT	0.692000													6	10					0	0	0.00116845	0	0
NRG1	3084	broad.mit.edu	37	8	32621314	32621314	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:32621314C>T	ENST00000338921.4	+	13	1858	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	NRG1_ENST00000287840.5_Silent_p.F439F|NRG1_ENST00000287845.5_Silent_p.F410F|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Silent_p.F444F|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Silent_p.F436F|NRG1_ENST00000405005.2_Silent_p.F439F|NRG1_ENST00000539990.1_Silent_p.F282F|NRG1_ENST00000519301.1_Silent_p.F389F			Q02297	NRG1_HUMAN	neuregulin 1	439					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTAGATTTCCACACGCCAA	0.557000													25	68					0	0	0.00178596	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019079	2019079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:2019079G>A	ENST00000382722.5	-	4	841	c.479C>T	c.(478-480)tCc>tTc	p.S160F	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S96F|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S96F	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	160						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CACCACCAGGGATTCATTGAA	0.602000													4	15					0	0	0.00116845	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128507	55128507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:55128507G>A	ENST00000370862.3	+	4	985	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	217					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATCCTAGGTGAAATTTATCC	0.358000													7	19					0	0	0.000274275	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678463	48678463	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48678463G>A	ENST00000352832.5	+	18	4146	c.3774G>A	c.(3772-3774)gtG>gtA	p.V1258V	CACNA1G_ENST00000359106.5_Silent_p.V1281V|CACNA1G_ENST00000513689.2_Silent_p.V1281V|CACNA1G_ENST00000514717.1_Silent_p.V1258V|CACNA1G_ENST00000416767.4_Silent_p.V1281V|CACNA1G_ENST00000513964.1_Silent_p.V1281V|CACNA1G_ENST00000515411.1_Silent_p.V1281V|CACNA1G_ENST00000512389.1_Silent_p.V1281V|CACNA1G_ENST00000505165.1_Silent_p.V1281V|CACNA1G_ENST00000514079.1_Silent_p.V1281V|CACNA1G_ENST00000514181.1_Silent_p.V1281V|CACNA1G_ENST00000442258.2_Silent_p.V1258V|CACNA1G_ENST00000503485.1_Silent_p.V1281V|CACNA1G_ENST00000358244.5_Silent_p.V1258V|CACNA1G_ENST00000354983.4_Silent_p.V1258V|CACNA1G_ENST00000510115.1_Silent_p.V1258V|CACNA1G_ENST00000515765.1_Silent_p.V1281V|CACNA1G_ENST00000360761.4_Silent_p.V1258V|CACNA1G_ENST00000507896.1_Silent_p.V1281V|CACNA1G_ENST00000507609.1_Silent_p.V1281V|CACNA1G_ENST00000507336.1_Silent_p.V1281V|CACNA1G_ENST00000507510.2_Silent_p.V1281V|CACNA1G_ENST00000510366.1_Silent_p.V1281V|CACNA1G_ENST00000429973.2_Silent_p.V1281V|CACNA1G_ENST00000502264.1_Silent_p.V1258V|CACNA1G_ENST00000515165.1_Silent_p.V1281V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1281					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGACCACGTGGTCCTTGTCA	0.612000													20	94					0	0	0.00047179	0	0
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104170392C>T	ENST00000374861.3	+	3	584	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZNF189_ENST00000259395.4_Silent_p.F72F|ZNF189_ENST00000339664.2_Silent_p.F114F	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F114L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378000													23	22					0	0	0.00229938	0	0
AARS2	57505	broad.mit.edu	37	6	44275008	44275008	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:44275008A>T	ENST00000244571.4	-	6	1020	c.1018T>A	c.(1018-1020)Ttc>Atc	p.F340I	TMEM151B_ENST00000438774.2_3'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	340					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ATCCCAGGGAAGATGCCATCA	0.642000													8	17					0	0	0.000442599	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156716575	156716575	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:156716575C>A	ENST00000264424.8	+	7	891	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.S292Y|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.S202Y|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.S202Y|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.S270Y|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.S202Y|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.S250Y	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	270					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GGGATCCTTTCTCACATCAAT	0.378000													33	53					9.65963e-10	3.76457e-09	0.00058488	1	0
MUC16	94025	broad.mit.edu	37	19	9068032	9068032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9068032C>T	ENST00000397910.4	-	3	19617	c.19414G>A	c.(19414-19416)Ggg>Agg	p.G6472R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6474	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						GAGTGGGTCCCTGCCTGTGAG	0.488000													38	82					0	0	0.00195071	0	0
DIAPH1	1729	broad.mit.edu	37	5	140961908	140961908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140961908G>A	ENST00000253811.6	-	7	795	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DIAPH1_ENST00000520569.1_Missense_Mutation_p.R165C|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R210C|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R210C|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R210C|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R219C|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R219C|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R210C			O60610	DIAP1_HUMAN	diaphanous-related formin 1	219	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGCAGCGAATGATCTCA	0.408000													19	37					0	0	0.00229938	0	0
PLA2G6	8398	broad.mit.edu	37	22	38565319	38565319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38565319G>A	ENST00000332509.3	-	2	298	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	PLA2G6_ENST00000335539.3_Missense_Mutation_p.R39W|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R39W	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	39					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTTCCTCCCGAACTCGGTCA	0.587000													9	21					0	0	0.000274275	0	0
RHBDL1	9028	broad.mit.edu	37	16	726698	726698	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:726698C>T	ENST00000219551.2	+	2	450	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RHBDL1_ENST00000352681.3_Silent_p.F76F			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	141					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCAGCAGTTTCAAGCGGGCCA	0.667000													10	32					0	0	0.000673444	0	0
SACS	26278	broad.mit.edu	37	13	23908108	23908108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:23908108G>A	ENST00000382298.3	-	10	10495	c.9907C>T	c.(9907-9909)Cct>Tct	p.P3303S	SACS_ENST00000402364.1_Missense_Mutation_p.P2553S|SACS_ENST00000382292.3_Missense_Mutation_p.P3303S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3303					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGCTGAGAGGAAGCAGAACA	0.418000													18	43					0	0	0.000958276	0	0
KANK4	163782	broad.mit.edu	37	1	62733995	62733995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:62733995C>T	ENST00000371153.4	-	5	2573	c.2195G>A	c.(2194-2196)gGg>gAg	p.G732E	KANK4_ENST00000354381.3_Missense_Mutation_p.G104E|KANK4_ENST00000371150.1_Missense_Mutation_p.G88E	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	732										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTCCCCAGGCCCACTTTCCTG	0.577000													13	36					0	0	0.00244969	0	0
MUC15	143662	broad.mit.edu	37	11	26586820	26586820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:26586820C>T	ENST00000436318.2	-	2	800	c.667G>A	c.(667-669)Gat>Aat	p.D223N	MUC15_ENST00000529533.1_Missense_Mutation_p.D223N|MUC15_ENST00000455601.2_Missense_Mutation_p.D196N|MUC15_ENST00000527569.1_Missense_Mutation_p.D223N|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.D223N|ANO3_ENST00000537978.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	196						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTGAAGCTATCACTGTTTGTG	0.408000													30	51					0	0	0.001512	0	0
MYL2	4633	broad.mit.edu	37	12	111348965	111348965	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:111348965G>A	ENST00000228841.8	-	7	464	c.417C>T	c.(415-417)ttC>ttT	p.F139F	MYL2_ENST00000548438.1_Silent_p.F125F	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	139	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GGAAGGCGGCGAACATCTGGT	0.617000													30	82					0	0	0.00111076	0	0
TRRAP	8295	broad.mit.edu	37	7	98575844	98575844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:98575844C>T	ENST00000359863.4	+	56	8584	c.8375C>T	c.(8374-8376)tCc>tTc	p.S2792F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S2774F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S2774F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2792	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCACAAGAATCCTATGAAAAG	0.338000													39	87					0	0	0.00195071	0	0
TUBB1	81027	broad.mit.edu	37	20	57599799	57599799	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:57599799G>A	ENST00000217133.1	+	4	1586	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	439					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AAGAGGTCACGGAGGAGGCAG	0.443000													29	19					0	0	0.00127121	0	0
IVL	3713	broad.mit.edu	37	1	152882604	152882604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152882604G>A	ENST00000368764.3	+	2	395	c.331G>A	c.(331-333)Gag>Aag	p.E111K	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	111					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTAAGCAGGAGAAAACACA	0.488000													11	42					0	0	0.00136819	0	0
CCDC129	223075	broad.mit.edu	37	7	31691654	31691654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:31691654G>A	ENST00000319386.3	+	13	3362	c.2369G>A	c.(2368-2370)gGg>gAg	p.G790E	CCDC129_ENST00000407970.3_Missense_Mutation_p.G938E|CCDC129_ENST00000409210.1_Missense_Mutation_p.G846E|CCDC129_ENST00000451887.2_Missense_Mutation_p.G964E			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	938										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATCAGAGAAGGGATTTTACTG	0.493000													5	7					0	0	0.000602214	0	0
IL20RA	53832	broad.mit.edu	37	6	137330539	137330539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:137330539G>A	ENST00000367748.1	-	3	747	c.161C>T	c.(160-162)cCa>cTa	p.P54L	IL20RA_ENST00000316649.5_Missense_Mutation_p.P165L|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.P165L|IL20RA_ENST00000541547.1_Missense_Mutation_p.P116L			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	165	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AAGGTCTTCTGGATTTCTCTT	0.438000													36	60					0	0	0.000953801	0	0
PLAA	9373	broad.mit.edu	37	9	26913921	26913921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:26913921G>A	ENST00000397292.3	-	11	1928	c.1511C>T	c.(1510-1512)tCt>tTt	p.S504F	PLAA_ENST00000520884.1_Missense_Mutation_p.S504F	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	504					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CATACTTGCAGAACCTGGTAC	0.348000													18	30					0	0	0.00278032	0	0
POLE	5426	broad.mit.edu	37	12	133236048	133236048	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:133236048G>C	ENST00000320574.5	-	26	3151	c.3108C>G	c.(3106-3108)aaC>aaG	p.N1036K	POLE_ENST00000535270.1_Missense_Mutation_p.N1009K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1036					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACATGGAACGGTTCTCAGAGA	0.527000								DNA polymerases (catalytic subunits)					11	40					0	0	0.00136819	0	0
NDRG3	57446	broad.mit.edu	37	20	35312868	35312868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:35312868G>A	ENST00000373803.2	-	6	387	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	NDRG3_ENST00000540765.1_Missense_Mutation_p.P7S|NDRG3_ENST00000373773.3_Missense_Mutation_p.P16S|NDRG3_ENST00000359675.2_Missense_Mutation_p.P99S|NDRG3_ENST00000349004.1_Missense_Mutation_p.P111S			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	111					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCCATTGTGGGGTACTGATAC	0.433000													23	36					0	0	0.000720815	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559961	44559961	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:44559961G>A	ENST00000332567.4	-	1	2027	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	559	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CACCCTTCCAGAACAGGTTCA	0.557000													20	21					0	0	0.00121646	0	0
GABRA3	2556	broad.mit.edu	37	X	151532989	151532989	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:151532989G>A	ENST00000370314.4	-	2	292	c.54C>T	c.(52-54)ttC>ttT	p.F18F	GABRA3_ENST00000370311.1_Silent_p.F18F|GABRA3_ENST00000535043.1_Silent_p.F18F	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	18					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTAATCAGGAAAAGAATCC	0.453000													40	26					0	0	0.00148497	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054319	95054319	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:95054319G>A	ENST00000329597.7	+	3	829		c.e3+1		SERPINA5_ENST00000554276.1_Splice_Site|SERPINA5_ENST00000554866.1_Splice_Site|SERPINA5_ENST00000553780.1_Splice_Site	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5						fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTTTAAAGGTAAGGCCCTT	0.438000													50	46					0	0	0.000781405	0	0
OR13C2	392376	broad.mit.edu	37	9	107367329	107367329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107367329C>T	ENST00000542196.1	-	1	622	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACTCATTGTCTGAGATGTCA	0.388000													29	121					0	0	0.000692331	0	0
ANKRD42	338699	broad.mit.edu	37	11	82936039	82936039	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:82936039C>T	ENST00000260047.6	+	6	1521	c.726C>T	c.(724-726)aaC>aaT	p.N242N	ANKRD42_ENST00000393392.2_Silent_p.N215N|ANKRD42_ENST00000533342.1_Silent_p.N243N|ANKRD42_ENST00000531895.1_Silent_p.N243N			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	215										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCAAGCAGAACATTTTACAGT	0.378000													15	28					0	0	0.00074312	0	0
KRT77	374454	broad.mit.edu	37	12	53096888	53096888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53096888C>T	ENST00000341809.3	-	1	359	c.331G>A	c.(331-333)Ggt>Agt	p.G111S	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	111	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCCCAAAACCACCTCCTCCA	0.592000													13	30					0	0	0.00136819	0	0
TLR4	7099	broad.mit.edu	37	9	120470924	120470924	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:120470924G>A	ENST00000355622.6	+	2	278	c.177G>A	c.(175-177)ctG>ctA	p.L59L	TLR4_ENST00000394487.4_Silent_p.L19L|TLR4_ENST00000472304.1_Intron	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	59					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCAAGAACCTGGACCTGAGCT	0.433000													99	88					0	0	0.000781405	0	0
IMPG2	50939	broad.mit.edu	37	3	100992530	100992530	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:100992530C>T	ENST00000193391.7	-	7	910	c.723G>A	c.(721-723)caG>caA	p.Q241Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	241	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTCTGCAATCTGTTCACCTG	0.383000													20	26					0	0	0.00121646	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712271	140712271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140712271G>A	ENST00000517417.1	+	1	2020	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D674N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTGGCCGACCTGGGCAG	0.692000													31	62					0	0	0.00178596	0	0
OTUD7A	161725	broad.mit.edu	37	15	31795993	31795993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:31795993C>T	ENST00000382902.1	-	7	1014	c.922G>A	c.(922-924)Gag>Aag	p.E308K	OTUD7A_ENST00000307050.4_Missense_Mutation_p.E301K			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	301	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.E301K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCAGGCTCTCGTACACGGGG	0.493000													28	14					0	0	0.00106085	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997273	146997273	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:146997273C>T	ENST00000361727.3	+	9	1905	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	463	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTTCGCTTCCTAGCCAAGG	0.408000										HNSCC(39;0.1)			27	48					0	0	0.00178596	0	0
LPPR1	54886	broad.mit.edu	37	9	104048497	104048497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104048497C>T	ENST00000374874.3	+	4	803	c.364C>T	c.(364-366)Cga>Tga	p.R122*	LPPR1_ENST00000395056.2_Nonsense_Mutation_p.R122*	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		122						integral to membrane	catalytic activity	p.R122*(1)									CCCCTTACTTCGAAGGATCAT	0.368000													14	59					0	0	0.00244969	0	0
TTC16	158248	broad.mit.edu	37	9	130482669	130482669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130482669C>T	ENST00000373289.3	+	6	732	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Nonsense_Mutation_p.Q42*	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	218							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CAACTTTCTCCAGAAGGTACA	0.612000													44	44					0	0	0.000781405	0	0
TRIM15	89870	broad.mit.edu	37	6	30134956	30134956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30134956C>T	ENST00000376694.4	+	2	854	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	129					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCCACAGGATCGTCTCAGGAG	0.468000													29	81					0	0	0.00058488	0	0
MROH2B	133558	broad.mit.edu	37	5	41004875	41004875	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41004875C>T	ENST00000399564.4	-	36	4462		c.e36+1		MROH2B_ENST00000506092.2_Splice_Site	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACGCCTTTTACCTTGTGAGGA	0.458000													23	49					0	0	0.000720815	0	0
SORL1	6653	broad.mit.edu	37	11	121492969	121492969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:121492969G>A	ENST00000260197.7	+	45	6292	c.6163G>A	c.(6163-6165)Gaa>Aaa	p.E2055K	SORL1_ENST00000527934.1_Missense_Mutation_p.E670K|SORL1_ENST00000534286.1_Missense_Mutation_p.E965K|SORL1_ENST00000532694.1_Missense_Mutation_p.E901K|SORL1_ENST00000525532.1_Missense_Mutation_p.E999K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2055	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTTAATGAAAGCAGGGT	0.363000													16	21					0	0	0.000422831	0	0
BAI3	577	broad.mit.edu	37	6	69944939	69944939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:69944939G>A	ENST00000370598.1	+	19	3444	c.2623G>A	c.(2623-2625)Ggc>Agc	p.G875S	BAI3_ENST00000238918.8_Missense_Mutation_p.G81S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	875					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAATCCTCTGGCACACCTTC	0.358000													56	103					0	0	0.000781405	0	0
TARS2	80222	broad.mit.edu	37	1	150471694	150471694	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:150471694C>T	ENST00000369064.3	+	13	1576	c.1542C>T	c.(1540-1542)gtC>gtT	p.V514V	TARS2_ENST00000369054.2_Silent_p.V384V|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Silent_p.V432V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	514					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTTCAAAGGTCCTTAAACAGG	0.483000													66	133					0	0	0.000781405	0	0
BCL9	607	broad.mit.edu	37	1	147094133	147094133	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:147094133C>T	ENST00000234739.3	+	9	3704	c.2964C>T	c.(2962-2964)ccC>ccT	p.P988P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	988	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAGTCTTCCCTCTAGTACAC	0.498000			T	"""IGH@, IGL@"""	B-ALL								57	112					0	0	0.000781405	0	0
DSP	1832	broad.mit.edu	37	6	7583417	7583417	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7583417G>T	ENST00000379802.3	+	24	6263	c.5922G>T	c.(5920-5922)aaG>aaT	p.K1974N	DSP_ENST00000418664.2_Missense_Mutation_p.K1375N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1974	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)		TGAGGAAGAAGGTGACAGCAA	0.498000													18	53					6.33239e-15	2.47402e-14	0.00152264	1	0
ADAM23	8745	broad.mit.edu	37	2	207414845	207414845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:207414845G>A	ENST00000264377.3	+	9	1222	c.894G>A	c.(892-894)atG>atA	p.M298I	ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	298					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGAAATGAAATATTTGG	0.303000													16	43					0	0	0.000958276	0	0
PRSS50	29122	broad.mit.edu	37	3	46753940	46753940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:46753940C>T	ENST00000460241.1	-	11	2624	c.954G>A	c.(952-954)atG>atA	p.M318I	PRSS50_ENST00000315170.7_Missense_Mutation_p.M318I			Q9UI38	TSP50_HUMAN	protease, serine, 50	318	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACGTGCCCTCCATGGAGCAGA	0.627000													14	5					0	0	0.000422831	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506675	37506675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37506675G>A	ENST00000374660.1	+	39	3424	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E990K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E990K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATATTAAATGAAAAAATTAG	0.308000													27	63					0	0	0.00209593	0	0
ALOX12B	242	broad.mit.edu	37	17	7979644	7979644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:7979644C>T	ENST00000319144.4	-	11	1641	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	461	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCAAAGCCTTCCACGCCCAGG	0.617000										Multiple Myeloma(8;0.094)			4	3					0	0	0.00024832	0	0
C12orf40	283461	broad.mit.edu	37	12	40085867	40085867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:40085867G>A	ENST00000324616.5	+	11	1518	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	C12orf40_ENST00000405531.3_Missense_Mutation_p.G455E	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	455										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGGAAGAAGGAGGAATATAT	0.254000													13	23					0	0	0.000566183	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426916	111426916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111426916C>T	ENST00000393934.3	+	2	877	c.307C>T	c.(307-309)Cga>Tga	p.R103*	PLCXD2_ENST00000477665.1_Nonsense_Mutation_p.R103*	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	103	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTGACATTTCGAGAACAGCT	0.522000													20	54					0	0	0.00152264	0	0
NAB1	4664	broad.mit.edu	37	2	191550256	191550256	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:191550256T>C	ENST00000337386.5	+	8	1611	c.1150T>C	c.(1150-1152)Tat>Cat	p.Y384H	NAB1_ENST00000357215.5_Missense_Mutation_p.Y355H|NAB1_ENST00000409581.1_Missense_Mutation_p.Y384H|NAB1_ENST00000545490.1_Missense_Mutation_p.Y124H|AC006460.2_ENST00000411949.1_RNA|AC006460.2_ENST00000428032.1_RNA|NAB1_ENST00000409641.1_Missense_Mutation_p.Y383H|AC006460.2_ENST00000421437.1_RNA	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	384					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CCAAGCTGGCTATGAGAGACT	0.468000													12	17					0	0	0.000422831	0	0
EXD1	161829	broad.mit.edu	37	15	41476750	41476750	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:41476750C>T	ENST00000314992.5	-	10	1114	c.924G>A	c.(922-924)aaG>aaA	p.K308K	EXD1_ENST00000458580.2_Silent_p.K366K	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	308					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTGGAAGTCCTTGAGTTGAA	0.428000													30	18					0	0	0.00209593	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704646	41704646	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:41704646C>T	ENST00000310054.4	+	5	903	c.687C>T	c.(685-687)ccC>ccT	p.P229P	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	229					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TCCTGCGGCCCCTGCCAGGCC	0.617000													26	71					0	0	0.001512	0	0
OR51A7	119687	broad.mit.edu	37	11	4929511	4929511	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4929511G>A	ENST00000359350.4	+	1	912	c.912G>A	c.(910-912)ggG>ggA	p.G304G	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGATCTTGGGGAAGTTGCTTA	0.393000													15	41					0	0	0.000308642	0	0
PURG	29942	broad.mit.edu	37	8	30889392	30889392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:30889392G>A	ENST00000475541.1	-	1	1839	c.907C>T	c.(907-909)Cca>Tca	p.P303S	PURG_ENST00000339382.2_Intron	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	303						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCTTTGAATGGAACAGTAATA	0.378000													10	16					0	0	0.000442599	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996286	140996286	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:140996286G>A	ENST00000285879.4	+	4	3382	c.3096G>A	c.(3094-3096)agG>agA	p.R1032R	MAGEC1_ENST00000406005.2_Silent_p.R99R	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1032	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGGAGGGAGCACTTTG	0.532000										HNSCC(15;0.026)			36	8					0	0	0.00128727	0	0
ADAM2	2515	broad.mit.edu	37	8	39646227	39646227	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:39646227G>A	ENST00000265708.4	-	8	706	c.603C>T	c.(601-603)gtC>gtT	p.V201V	ADAM2_ENST00000347580.4_Silent_p.V182V|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.V201V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	201	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.V201V(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTTTTGAGCGACAACAGTTG	0.289000													9	35					0	0	0.000673444	0	0
RAI1	10743	broad.mit.edu	37	17	17701563	17701563	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:17701563C>T	ENST00000353383.1	+	3	5770	c.5301C>T	c.(5299-5301)ggC>ggT	p.G1767G	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1767						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAGCAGGGCCCACTGCGCA	0.706000													5	0					0	0	0.00198382	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091063	11091063	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:11091063G>A	ENST00000537503.1	-	1	799	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_5'UTR	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	248					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AAACTGATATGAAAAAAGACA	0.418000													30	55					0	0	0.00209593	0	0
NLRP5	126206	broad.mit.edu	37	19	56539225	56539225	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56539225G>A	ENST00000390649.3	+	7	1626	c.1626G>A	c.(1624-1626)agG>agA	p.R542R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	542	NACHT.					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)		TGTGGAATAGGAAGTCAGTGT	0.562000													6	18					0	0	0.00116845	0	0
NPY1R	4886	broad.mit.edu	37	4	164247476	164247476	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:164247476G>A	ENST00000296533.2	-	2	762	c.231C>T	c.(229-231)atC>atT	p.I77I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	77					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCACAATCAGGATGTTGGTAA	0.428000													10	41					0	0	0.000442599	0	0
PTPRB	5787	broad.mit.edu	37	12	70953309	70953309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70953309C>T	ENST00000334414.6	-	18	4572	c.4528G>A	c.(4528-4530)Gac>Aac	p.D1510N	PTPRB_ENST00000451516.2_Missense_Mutation_p.D1202N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1509N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1202N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1292N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1422N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1202N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1292	Fibronectin type-III 17.				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)			AGCTCAAAGTCGTTGTAGTCT	0.498000													44	85					0	0	0.000781405	0	0
SCN4A	6329	broad.mit.edu	37	17	62019223	62019223	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:62019223G>A	ENST00000578147.1	-	24	4495	c.4419C>T	c.(4417-4419)ttC>ttT	p.F1473F	SCN4A_ENST00000435607.1_Silent_p.F1473F			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1473			F -> S (in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1473F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCATGAGGGCGAACAGCAGCG	0.612000													27	28					0	0	0.00127121	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610323	47610323	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:47610323C>T	ENST00000371891.3	+	8	1030	c.999C>T	c.(997-999)atC>atT	p.I333I	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.I333I|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	333						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCTGGATCCTCTATGCTC	0.592000													6	69					0	0	0.000422831	0	0
HEATR1	55127	broad.mit.edu	37	1	236736086	236736086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:236736086G>A	ENST00000366582.3	-	25	3616	c.3502C>T	c.(3502-3504)Cca>Tca	p.P1168S	HEATR1_ENST00000366581.2_Missense_Mutation_p.P1087S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1168					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTTTATCTGGTGGCTCCAGT	0.393000													100	211					0	0	0.000781405	0	0
RBM46	166863	broad.mit.edu	37	4	155718033	155718033	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:155718033G>A	ENST00000510397.1	+	2	308	c.129G>A	c.(127-129)agG>agA	p.R43R	RBM46_ENST00000514866.1_Silent_p.R43R|RBM46_ENST00000281722.3_Silent_p.R43R	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	43							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATGGACAAAGGAAATTTGGCG	0.383000													22	49					0	0	0.000720815	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70946612C>T	ENST00000334414.6	-	21	5376	c.5332G>A	c.(5332-5334)Gat>Aat	p.D1778N	PTPRB_ENST00000451516.2_Missense_Mutation_p.D1470N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1560N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1690N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1470N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1560	Tyrosine-protein phosphatase.				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)			TGAGTGGGATCGCATTTTCCA	0.423000													14	36					0	0	0.00185496	0	0
OR11L1	391189	broad.mit.edu	37	1	248004784	248004784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248004784C>T	ENST00000355784.2	-	1	470	c.415G>A	c.(415-417)Ggg>Agg	p.G139R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	139					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)			GCACAGAGCCCACGATGCATG	0.597000													10	33					0	0	0.000673444	0	0
TRERF1	55809	broad.mit.edu	37	6	42227184	42227184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:42227184G>A	ENST00000541110.1	-	9	2790	c.2222C>T	c.(2221-2223)tCg>tTg	p.S741L	TRERF1_ENST00000372922.4_Missense_Mutation_p.S721L|TRERF1_ENST00000372917.4_Missense_Mutation_p.S638L|TRERF1_ENST00000340840.2_Missense_Mutation_p.S638L|TRERF1_ENST00000354325.2_Missense_Mutation_p.S638L			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	721	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGAGCCCCGAGCCCTGGCG	0.731000													5	12					0	0	0.000602214	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744979	87744979	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:87744979C>T	ENST00000273905.6	-	6	1143	c.996G>A	c.(994-996)acG>acA	p.T332T		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	332						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCGATTTCCTCGTATGGCAGA	0.463000													51	68					0	0	0.000781405	0	0
MYOCD	93649	broad.mit.edu	37	17	12639612	12639612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:12639612G>A	ENST00000425538.1	+	6	750	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	MYOCD_ENST00000395988.1_Missense_Mutation_p.A88T|MYOCD_ENST00000343344.4_Missense_Mutation_p.A184T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	184	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGACGCTAAAGCCTCAGATAC	0.473000													27	50					0	0	0.000720815	0	0
C1orf173	127254	broad.mit.edu	37	1	75055760	75055760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75055760C>T	ENST00000326665.5	-	12	1949	c.1731G>A	c.(1729-1731)atG>atA	p.M577I	C1orf173_ENST00000420661.2_Missense_Mutation_p.M380I|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	577	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGCAGTTTTCATATCTACAA	0.353000													7	10					0	0	0.00198382	0	0
SYT14	255928	broad.mit.edu	37	1	210194504	210194504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:210194504C>T	ENST00000537238.1	+	5	624	c.233C>T	c.(232-234)tCt>tTt	p.S78F	SYT14_ENST00000367019.1_Missense_Mutation_p.S116F|SYT14_ENST00000422431.1_Missense_Mutation_p.S161F|SYT14_ENST00000534859.1_Missense_Mutation_p.S116F|SYT14_ENST00000399639.2_Missense_Mutation_p.S116F|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000472886.1_Missense_Mutation_p.S116F|SYT14_ENST00000367015.1_Missense_Mutation_p.S78F	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	116						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CTGGCAGATTCTAGACAAAGG	0.433000													12	42					0	0	0.00136819	0	0
GHSR	2693	broad.mit.edu	37	3	172163185	172163185	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:172163185G>A	ENST00000241256.2	-	2	909	c.867C>T	c.(865-867)tcC>tcT	p.S289S		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	289					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGGCTCAAAGGATTTGGAAA	0.498000													10	31					0	0	0.000442599	0	0
UGT2A3	79799	broad.mit.edu	37	4	69811101	69811101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:69811101C>T	ENST00000251566.4	-	2	817	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	263						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGAGGAAATTCAAAATCCCAA	0.373000													18	44					0	0	0.00074312	0	0
CYR61	3491	broad.mit.edu	37	1	86046709	86046709	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:86046709C>T	ENST00000451137.2	+	1	266	c.42C>T	c.(40-42)acC>acT	p.T14T		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	14					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TAGTCGTCACCCTTCTCCACT	0.652000													5	15					0	0	0.00198382	0	0
PTPRT	11122	broad.mit.edu	37	20	41306568	41306568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:41306568C>T	ENST00000373198.3	-	7	1326	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	PTPRT_ENST00000356100.2_Missense_Mutation_p.R364Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R364Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R364Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	364	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCACCTGGTCGTGTGAGGAG	0.562000													11	52					0	0	0.000673444	0	0
SPTLC2	9517	broad.mit.edu	37	14	78063594	78063594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:78063594G>A	ENST00000216484.2	-	2	455	c.262C>T	c.(262-264)Cga>Tga	p.R88*		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	88						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAGAAATCTCGAAGATATCCA	0.383000													15	15					0	0	0.000308642	0	0
EYA2	2139	broad.mit.edu	37	20	45801394	45801394	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:45801394C>T	ENST00000327619.5	+	12	1451	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	EYA2_ENST00000357410.3_Silent_p.A359A|EYA2_ENST00000317304.6_Silent_p.A329A	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	359					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACAGTTCGGCCCCAGGAGCCA	0.632000													45	17					0	0	0.000781405	0	0
PSD4	23550	broad.mit.edu	37	2	113940076	113940076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:113940076G>A	ENST00000245796.6	+	2	238	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.E15K	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	15					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCCCATGGAAATTCTCAA	0.592000													14	35					0	0	0.00244969	0	0
COL11A1	1301	broad.mit.edu	37	1	103352381	103352381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:103352381G>A	ENST00000358392.2	-	63	5193	c.4876C>T	c.(4876-4878)Cat>Tat	p.H1626Y	COL11A1_ENST00000370096.3_Missense_Mutation_p.H1614Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.H1498Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.H1575Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1614	Fibrillar collagen NC1.				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	p.H1614N(1)|p.H1626N(1)		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)		AAGTCAGGATGGCTGAGTTGC	0.438000													31	154					0	0	0.0024448	0	0
EXO5	64789	broad.mit.edu	37	1	40980291	40980291	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:40980291C>T	ENST00000372703.1	+	2	1149	c.75C>T	c.(73-75)ttC>ttT	p.F25F	EXO5_ENST00000471429.1_3'UTR|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Silent_p.F25F|EXO5_ENST00000358527.2_Silent_p.F25F					exonuclease 5																		ACTCAGAGTTCCTGGAGTTTC	0.493000													70	60					0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79360134	79360134	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:79360134C>T	ENST00000264895.6	+	40	5885	c.5445C>T	c.(5443-5445)aaC>aaT	p.N1815N	FRAS1_ENST00000325942.6_Silent_p.N1815N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1814					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGACCACAACCATCTGGATA	0.383000													54	129					0	0	0.000781405	0	0
OR56B1	387748	broad.mit.edu	37	11	5758025	5758025	+	Silent	SNP	C	C	T	rs141704797	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5758025C>T	ENST00000317121.3	+	1	345	c.279C>T	c.(277-279)atC>atT	p.I93I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TCCTGGCCATCTTCTGGTTTG	0.468000													9	39					0	0	0.000673444	0	0
NLRP1	22861	broad.mit.edu	37	17	5462527	5462527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:5462527C>T	ENST00000345221.3	-	4	2043	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.E497K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E497K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E497K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E497K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E497K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	497	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTTGCCTTTCATCTGTGAAA	0.507000													31	35					0	0	0.000692331	0	0
ZMYM2	7750	broad.mit.edu	37	13	20659964	20659964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:20659964C>T	ENST00000382869.3	+	25	4195	c.3944C>T	c.(3943-3945)cCa>cTa	p.P1315L	ZMYM2_ENST00000382874.2_Missense_Mutation_p.P1315L|ZMYM2_ENST00000382870.2_Missense_Mutation_p.P695L|ZMYM2_ENST00000382871.2_Missense_Mutation_p.P1315L	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCCAAAGTCCACAGAATCTT	0.378000													12	38					0	0	0.00136819	0	0
PLCE1	51196	broad.mit.edu	37	10	96084175	96084175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96084175G>A	ENST00000260766.3	+	31	7205	c.6571G>A	c.(6571-6573)Gaa>Aaa	p.E2191K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E1883K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1883K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E2191K|NOC3L_ENST00000543788.1_Intron	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2191	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGCTTTTGGAAGAGGTGGT	0.448000													69	79					0	0	0.000781405	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798468	160798468	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:160798468G>A	ENST00000283243.7	-	30	4419	c.4213C>T	c.(4213-4215)Ctg>Ttg	p.L1405L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1405					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATCAGTGTCAGTACAACCGCA	0.403000													31	72					0	0	0.00128727	0	0
LIMS2	55679	broad.mit.edu	37	2	128412413	128412413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:128412413C>T	ENST00000409455.1	-	3	849	c.214G>A	c.(214-216)Gga>Aga	p.G72R	LIMS2_ENST00000355119.4_Missense_Mutation_p.G77R|LIMS2_ENST00000410011.1_Missense_Mutation_p.G72R|LIMS2_ENST00000324938.5_Missense_Mutation_p.G101R|LIMS2_ENST00000545738.2_Missense_Mutation_p.G99R|LIMS2_ENST00000409808.2_Missense_Mutation_p.G72R			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	77	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CCGCAGGATCCACAGCACGGA	0.602000													8	15					0	0	0.000274275	0	0
ANKRD16	54522	broad.mit.edu	37	10	5925946	5925946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:5925946G>A	ENST00000380094.5	-	4	1216	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	ANKRD16_ENST00000380092.4_Missense_Mutation_p.L225F|ANKRD16_ENST00000191063.8_Missense_Mutation_p.L225F	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	225										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TGTTCATCGAGGAGCAGCCTA	0.453000													12	37					0	0	0.000308642	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176535	140176535	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140176535G>A	ENST00000526136.1	+	1	1986	c.1986G>A	c.(1984-1986)acG>acA	p.T662T	PCDHA2_ENST00000520672.2_Silent_p.T662T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.T662T|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCACGGCCACCGTGT	0.662000													22	52					0	0	0.00229938	0	0
ZNF317	57693	broad.mit.edu	37	19	9267379	9267379	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9267379C>T	ENST00000247956.6	+	3	422	c.117C>T	c.(115-117)ttC>ttT	p.F39F	ZNF317_ENST00000360385.3_Silent_p.F39F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	39					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						TGGACCTGTTCGTGTGCAGTG	0.552000													29	60					0	0	0.00283554	0	0
OR10K2	391107	broad.mit.edu	37	1	158389999	158389999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158389999G>A	ENST00000314902.2	-	1	657	c.658C>T	c.(658-660)Cac>Tac	p.H220Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAGAGGATGTGAACATAGGAC	0.448000													14	36					0	0	0.000422831	0	0
PRKACG	5568	broad.mit.edu	37	9	71628928	71628928	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:71628928G>A	ENST00000377276.2	-	1	111	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	27					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCTGTAGAGGAAATCTCCTC	0.642000													31	30					0	0	0.000814825	0	0
PLCH1	23007	broad.mit.edu	37	3	155200480	155200480	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:155200480T>A	ENST00000460012.1	-	23	3602	c.3245A>T	c.(3244-3246)aAa>aTa	p.K1082I	PLCH1_ENST00000340059.7_Missense_Mutation_p.K1120I|PLCH1_ENST00000414191.1_Missense_Mutation_p.K1082I|PLCH1_ENST00000334686.6_Missense_Mutation_p.K1082I|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1120					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAGATGCTTTTCCCTTCCAC	0.458000													22	62					0	0	0.00152264	0	0
CLDN16	10686	broad.mit.edu	37	3	190122642	190122642	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:190122642G>A	ENST00000264734.2	+	3	767	c.519G>A	c.(517-519)gtG>gtA	p.V173V	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	173					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TTGACTGCGTGAAATTCCTCC	0.498000													29	39					0	0	0.00127121	0	0
ALPK2	115701	broad.mit.edu	37	18	56203320	56203320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:56203320C>T	ENST00000361673.3	-	5	4312	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1367							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTAACATTTTCCTTCCCTCCA	0.453000													31	64					0	0	0.00058488	0	0
ANK2	287	broad.mit.edu	37	4	114277268	114277268	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:114277268C>T	ENST00000357077.4	+	38	7547	c.7494C>T	c.(7492-7494)ctC>ctT	p.L2498L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.L2465L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2465					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)		AAACAGAACTCTTGACGGAAG	0.537000													30	47					0	0	0.001512	0	0
ALPK3	57538	broad.mit.edu	37	15	85401399	85401399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:85401399C>T	ENST00000258888.5	+	6	4203	c.4036C>T	c.(4036-4038)Cca>Tca	p.P1346S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1346					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGAAGTTCCCAGGGGAGGC	0.647000													8	5					0	0	0.000442599	0	0
LPIN3	64900	broad.mit.edu	37	20	39978916	39978916	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:39978916G>A	ENST00000373257.3	+	7	1072	c.981G>A	c.(979-981)gaG>gaA	p.E327E		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	327					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGAGACAGAGGAAAGCAAGA	0.617000													9	27					0	0	0.000274275	0	0
OR13C3	138803	broad.mit.edu	37	9	107299020	107299020	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107299020G>A	ENST00000374781.2	-	1	117	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTGCTTTCAGGAAATCAAAAG	0.348000													14	35					0	0	0.00244969	0	0
RP1L1	94137	broad.mit.edu	37	8	10480452	10480452	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:10480452A>G	ENST00000382483.3	-	2	483	c.260T>C	c.(259-261)cTg>cCg	p.L87P	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	87					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGGCTATGCAGGCCCCGGGG	0.652000													8	19					0	0	0.000442599	0	0
AZGP1	563	broad.mit.edu	37	7	99566050	99566050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:99566050G>A	ENST00000411734.1	-	3	337	c.332C>T	c.(331-333)tCt>tTt	p.S111F	AZGP1_ENST00000292401.4_Missense_Mutation_p.S114F			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	114					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAATACGTGAGACCCTGAAAA	0.433000													76	190					0	0	0.000781405	0	0
ADAM7	8756	broad.mit.edu	37	8	24350052	24350052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24350052G>A	ENST00000175238.6	+	15	1680	c.1597G>A	c.(1597-1599)Gga>Aga	p.G533R	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G305R|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G533R	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	533	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GAATACAAAAGGAAATAAATT	0.343000													29	118					0	0	0.000692331	0	0
GRK1	6011	broad.mit.edu	37	13	114322064	114322064	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:114322064C>T	ENST00000335678.6	+	1	595	c.363C>T	c.(361-363)ctC>ctT	p.L121L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	121	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AGGCCAAACTCTTCTGCAGCT	0.602000													11	21					0	0	0.000673444	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77764324C>T	ENST00000521891.2	+	10	5615	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)			23	43					0	0	0.000586117	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642863	1642863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:1642863G>A	ENST00000399682.1	-	1	505	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	214	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGCAGCAGGATGACCCACA	0.622000													46	86					0	0	0.000781405	0	0
TDRD10	126668	broad.mit.edu	37	1	154517284	154517284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:154517284G>A	ENST00000368482.4	+	11	1649	c.811G>A	c.(811-813)Gac>Aac	p.D271N	TDRD10_ENST00000368480.3_Missense_Mutation_p.D271N|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	271	Tudor.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGGGTGCTGGACAGGGTGGA	0.537000													9	36					0	0	0.000673444	0	0
DSPP	1834	broad.mit.edu	37	4	88533960	88533960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:88533960G>A	ENST00000399271.1	+	4	742	c.622G>A	c.(622-624)Ggt>Agt	p.G208S	DSPP_ENST00000282478.7_Missense_Mutation_p.G208S|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	208					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TAGAAACGAGGGTAATACAAG	0.438000													5	23					0	0	0.000157383	0	0
CASP14	23581	broad.mit.edu	37	19	15166855	15166855	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15166855C>T	ENST00000427043.3	+	7	992	c.684C>T	c.(682-684)aaC>aaT	p.N228N	CASP14_ENST00000221740.1_Silent_p.N228N	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	228					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGAAAACGAACCCTGAAATCC	0.512000													3	6					0	0	0.000602214	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364173	43364173	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:43364173G>A	ENST00000344686.2	-	0	882							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGCTATAGGGGAAGGGGT	0.612000													4	13					0	0	0.000602214	0	0
CD300A	11314	broad.mit.edu	37	17	72469840	72469840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:72469840G>A	ENST00000360141.3	+	2	494	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	69	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGGTCAGCAGGAAAAAGGAAC	0.517000													25	46					0	0	0.00127121	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255997	9255997	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:9255997A>C	ENST00000383440.2	+	8	2920	c.2663A>C	c.(2662-2664)cAt>cCt	p.H888P	ANKRD12_ENST00000400020.3_Missense_Mutation_p.H888P|ANKRD12_ENST00000262126.3_Missense_Mutation_p.H911P	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	911						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GATAGGAAACATGACAAAGAA	0.338000													3	7					0	0	0.00024832	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532213	84532213	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:84532213C>T	ENST00000527857.1	+	0	2235					NR_026851.1																						ATTCATGGACCGTTAAATATC	0.483000													20	23					0	0	0.00229938	0	0
FBXO40	51725	broad.mit.edu	37	3	121345629	121345629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121345629C>T	ENST00000338040.4	+	4	2416	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	668					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAGTCCTGTCCTTTCAACAT	0.478000													34	80					0	0	0.000692331	0	0
FAM13C	220965	broad.mit.edu	37	10	61029827	61029827	+	Missense_Mutation	SNP	C	C	T	rs143474599	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:61029827C>T	ENST00000373867.3	-	8	851	c.386G>A	c.(385-387)aGt>aAt	p.S129N	FAM13C_ENST00000373868.2_Missense_Mutation_p.S212N|FAM13C_ENST00000435852.2_Missense_Mutation_p.S212N|FAM13C_ENST00000277705.6_Missense_Mutation_p.S233N|FAM13C_ENST00000468840.2_Missense_Mutation_p.S129N|FAM13C_ENST00000419214.2_Missense_Mutation_p.S212N|FAM13C_ENST00000442566.3_Missense_Mutation_p.S233N|FAM13C_ENST00000422313.2_Missense_Mutation_p.S212N	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	212										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCTGGTGCACTGTCGGCCTC	0.532000													22	23					0	0	0.00127121	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579759	44579759	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:44579759G>A	ENST00000289547.4	-	2	292	c.237C>T	c.(235-237)ccC>ccT	p.P79P	NPC1L1_ENST00000546276.1_Silent_p.P79P|NPC1L1_ENST00000423141.1_Silent_p.P79P|NPC1L1_ENST00000381160.3_Silent_p.P79P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	79					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGTAGAGGCGGGGGCAGATCT	0.602000													7	22					0	0	0.00198382	0	0
GPR115	221393	broad.mit.edu	37	6	47681824	47681824	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47681824G>A	ENST00000283303.2	+	6	1101	c.843G>A	c.(841-843)agG>agA	p.R281R	GPR115_ENST00000371220.1_Silent_p.R338R|GPR115_ENST00000327753.3_Silent_p.R281R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	281					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGAGCTAAGGAAGCTGTGGC	0.463000													17	36					0	0	0.000958276	0	0
ASPA	443	broad.mit.edu	37	17	3397679	3397679	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:3397679A>G	ENST00000263080.2	+	5	828	c.670A>G	c.(670-672)Aaa>Gaa	p.K224E	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.K224E	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	224					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGAGGTCTATAAAATTATAGA	0.393000													107	106					0	0	0.000781405	0	0
SPEG	10290	broad.mit.edu	37	2	220338538	220338538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:220338538G>A	ENST00000312358.7	+	18	4492	c.4360G>A	c.(4360-4362)Gtg>Atg	p.V1454M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1454	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GATCTGCCGGGTGAGCCGCCG	0.662000													27	57					0	0	0.00209593	0	0
KITLG	4254	broad.mit.edu	37	12	88939543	88939543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:88939543C>T	ENST00000347404.5	-	2	687	c.115G>A	c.(115-117)Gac>Aac	p.D39N	KITLG_ENST00000228280.5_Missense_Mutation_p.D39N|KITLG_ENST00000357116.4_Intron	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	39					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTAGTGACGTCTTTTACATTA	0.378000									Testicular Cancer, Familial Clustering of				10	31					0	0	0.00136819	0	0
PHF12	57649	broad.mit.edu	37	17	27233206	27233206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:27233206G>A	ENST00000332830.4	-	15	3820	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	1004					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAGTCCTAAGGAACAGAGTTG	0.587000													12	24					0	0	0.00136819	0	0
SP140L	93349	broad.mit.edu	37	2	231253340	231253340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:231253340G>A	ENST00000243810.6	+	10	851	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	SP140L_ENST00000444636.1_Missense_Mutation_p.R284Q|SP140L_ENST00000415673.2_Missense_Mutation_p.R284Q|SP140L_ENST00000396563.4_Missense_Mutation_p.R284Q			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	284						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAAAGAGTCCGATCAAGAGGT	0.353000													8	19					0	0	0.000274275	0	0
GABRG1	2565	broad.mit.edu	37	4	46067418	46067418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:46067418G>A	ENST00000295452.4	-	4	672	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R169*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTCCAAATTCGAAGCAGACGA	0.323000													21	59					0	0	0.00278032	0	0
ATP10A	57194	broad.mit.edu	37	15	25925961	25925961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:25925961G>A	ENST00000356865.6	-	19	3785	c.3674C>T	c.(3673-3675)aCc>aTc	p.T1225I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1225					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTACCCAGGTTTTGGTTTC	0.557000													36	42					0	0	0.00111076	0	0
COL5A1	1289	broad.mit.edu	37	9	137630331	137630331	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:137630331C>T	ENST00000371817.3	+	10	1815	c.1401C>T	c.(1399-1401)atC>atT	p.I467I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	467	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)		GCATGCTCATCGAGGGCCCGC	0.647000													14	42					0	0	0.000422831	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610435	54610435	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:54610435C>T	ENST00000302287.3	+	1	418	c.12C>T	c.(10-12)atC>atT	p.I4I	VSTM2A_ENST00000402026.2_Silent_p.I3I|VSTM2A_ENST00000407838.3_Silent_p.I4I|VSTM2A_ENST00000404951.1_Silent_p.I4I|VSTM2A_ENST00000402613.3_Silent_p.I4I			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	4						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGATGGGGATCTTTTTGGTGT	0.448000													28	75					0	0	0.00127121	0	0
PSG6	5675	broad.mit.edu	37	19	43421896	43421896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43421896C>T	ENST00000187910.2	-	1	114	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG6_ENST00000601833.1_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.G17R|PSG6_ENST00000402603.4_Missense_Mutation_p.G17R	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGCAGGAGCCCCTTCCAGGTG	0.582000													29	80					0	0	0.00209593	0	0
SDK2	54549	broad.mit.edu	37	17	71426669	71426669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:71426669C>T	ENST00000392650.3	-	12	1564	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	SDK2_ENST00000388726.3_Missense_Mutation_p.D522N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	522	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACTCGGGGGTCGTGGGTCACT	0.607000													6	10					0	0	0.000274275	0	0
LPAR1	1902	broad.mit.edu	37	9	113703937	113703937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:113703937C>T	ENST00000374431.3	-	4	940	c.557G>A	c.(556-558)tGg>tAg	p.W186*	LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W186*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W187*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W187*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W186*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	186					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GATACAGTTCCAGCCCACACT	0.493000													63	58					0	0	0.000781405	0	0
PROM2	150696	broad.mit.edu	37	2	95941806	95941806	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:95941806G>A	ENST00000317620.9	+	3	556	c.423G>A	c.(421-423)aaG>aaA	p.K141K	PROM2_ENST00000542147.1_Silent_p.K141K|PROM2_ENST00000317668.4_Silent_p.K141K|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000403131.2_Silent_p.K141K	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	141						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GACGAGTGAAGACAGAGCACA	0.677000													11	15					0	0	0.000673444	0	0
ALDH2	217	broad.mit.edu	37	12	112229871	112229871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:112229871C>T	ENST00000261733.2	+	8	863	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	ALDH2_ENST00000416293.3_Missense_Mutation_p.R221C	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	268					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACAGATTGGCCGCGTAATCCA	0.547000			T	HMGA2	leiomyoma								10	43					0	0	0.000442599	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332974	100332974	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:100332974G>A	ENST00000341853.1	-	0	1217					NR_003260.1																						GGGCAGGGGAGGCTCTCACTG	0.627000													5	76					0	0	0.000958276	0	0
C17orf97	400566	broad.mit.edu	37	17	263815	263815	+	Missense_Mutation	SNP	C	C	T	rs148328036	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:263815C>T	ENST00000360127.6	+	2	1197	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	424	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						AGGCAGCCCACGTCGAAAGCC	0.552000													28	56					0	0	0.000878237	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368549	18368549	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:18368549T>G	ENST00000392413.3	-	4	3760	c.3545A>C	c.(3544-3546)cAc>cCc	p.H1182P	KIAA1683_ENST00000600328.2_Missense_Mutation_p.H995P|KIAA1683_ENST00000600359.2_Missense_Mutation_p.H949P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CATCTGCCAGTGCCGGGCTTG	0.682000													7	19					0	0	0.00198382	0	0
DNAH17	8632	broad.mit.edu	37	17	76423027	76423027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76423027C>T	ENST00000389840.5	-	78	12944	c.12820G>A	c.(12820-12822)Gag>Aag	p.E4274K	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E4246K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTTCAGCTCCTTGAGCGAA	0.572000													6	9					0	0	0.000157383	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36207788	36207788	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:36207788A>G	ENST00000258840.6	-	12	1908	c.1518T>C	c.(1516-1518)ggT>ggC	p.G506G	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Silent_p.G506G|RALGAPA1_ENST00000382366.3_Silent_p.G506G|RALGAPA1_ENST00000307138.6_Silent_p.G506G			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	506					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATGAAGAGCACCTTGGTAGG	0.398000													31	49					0	0	0.000953801	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090803	91090803	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:91090803C>T	ENST00000373094.1	+	1	1145	c.300C>T	c.(298-300)atC>atT	p.I100I	PCDH11X_ENST00000361655.2_Silent_p.I100I|PCDH11X_ENST00000361724.1_Silent_p.I100I|PCDH11X_ENST00000504220.1_Silent_p.I100I|PCDH11X_ENST00000395337.2_Silent_p.I100I|PCDH11X_ENST00000373097.1_Silent_p.I100I|PCDH11X_ENST00000298274.8_Silent_p.I100I|PCDH11X_ENST00000373088.1_Silent_p.I100I|PCDH11X_ENST00000406881.1_Silent_p.I100I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	100	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGCTGGTATCCCAAGGGATG	0.418000													63	36					0	0	0.000781405	0	0
TM9SF2	9375	broad.mit.edu	37	13	100207847	100207847	+	Silent	SNP	T	T	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:100207847T>G	ENST00000376387.4	+	15	1888	c.1698T>G	c.(1696-1698)gtT>gtG	p.V566V		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	566					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TCATTTTGGTTATTACCTGTT	0.328000													16	50					0	0	0.000566183	0	0
CRAT	1384	broad.mit.edu	37	9	131860856	131860856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131860856G>A	ENST00000318080.2	-	9	1453	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	387					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGATCTCGGGGGTGATGTTG	0.617000													36	127					0	0	0.00148497	0	0
GBA3	57733	broad.mit.edu	37	4	22729516	22729516	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:22729516G>A	ENST00000511446.1	+	0	61				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAGGATATCAGGAGACATGTT	0.363000													32	60					0	0	0.00058488	0	0
EPN1	29924	broad.mit.edu	37	19	56203242	56203242	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56203242C>T	ENST00000411543.2	+	7	1690	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	EPN1_ENST00000085079.7_Silent_p.P270P|EPN1_ENST00000270460.6_Silent_p.P295P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	295	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCTCGGACCCCTGGGGCGGCC	0.756000													10	9					0	0	0.000673444	0	0
ATP10D	57205	broad.mit.edu	37	4	47574980	47574980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:47574980C>T	ENST00000273859.3	+	18	3601	c.3332C>T	c.(3331-3333)tCc>tTc	p.S1111F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1111					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACACGGCTTTCCAACATGATT	0.448000													47	111					0	0	0.000781405	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:57354177G>A	ENST00000314922.3	-	2	534	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.S153F	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527000													34	55					0	0	0.000814825	0	0
NUAK2	81788	broad.mit.edu	37	1	205273169	205273169	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205273169G>A	ENST00000367157.3	-	7	1422	c.1296C>T	c.(1294-1296)atC>atT	p.I432I		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	432					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCTCGCAGGGATTGGGCTGA	0.622000													14	23					0	0	0.000308642	0	0
HOXA2	3199	broad.mit.edu	37	7	27141067	27141067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:27141067C>T	ENST00000222718.5	-	2	719	c.409G>A	c.(409-411)Gat>Aat	p.D137N		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	137						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CCGCTGCCATCGGCGATTTCC	0.527000													10	19					0	0	0.00136819	0	0
NUP62	23636	broad.mit.edu	37	19	50411634	50411634	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50411634G>A	ENST00000596217.1	-	2	3318	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Silent_p.I401I|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.I477I|NUP62_ENST00000422090.2_Silent_p.I477I|NUP62_ENST00000352066.3_Silent_p.I477I|NUP62_ENST00000597029.1_Silent_p.I477I			P37198	NUP62_HUMAN	nucleoporin 62kDa	477					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCGCATTGAGGATCTTGCAGA	0.622000													34	73					0	0	0.00058488	0	0
OR2B6	26212	broad.mit.edu	37	6	27925618	27925618	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:27925618C>T	ENST00000244623.1	+	1	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGAACTATTCCTTGTCAGTG	0.438000													30	115					0	0	0.00178596	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141858	133141858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133141858C>T	ENST00000388996.4	-	15	2690	c.2270G>A	c.(2269-2271)cGa>cAa	p.R757Q	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R637Q|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R745Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	757					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCAGCTCACTCGGGAGTCGAG	0.602000													9	16					0	0	0.000274275	0	0
CATSPERG	57828	broad.mit.edu	37	19	38847151	38847151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:38847151C>T	ENST00000409235.3	+	10	1278	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	CATSPERG_ENST00000410018.1_Missense_Mutation_p.P388L|CATSPERG_ENST00000215069.4_Intron	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	388					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GAGATGCTGCCCAGGCAGTGG	0.597000													14	38					0	0	0.00244969	0	0
RHOT1	55288	broad.mit.edu	37	17	30527974	30527974	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:30527974G>A	ENST00000358365.3	+	14	1327		c.e14-1		RHOT1_ENST00000545287.2_Splice_Site|RHOT1_ENST00000394692.2_Splice_Site|RHOT1_ENST00000354266.3_Splice_Site|RHOT1_ENST00000333942.6_Splice_Site|RHOT1_ENST00000583994.1_Splice_Site|RHOT1_ENST00000581094.1_Splice_Site	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1						apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTCTTTCATAGGCTCACGACT	0.363000													43	52					0	0	0.00285205	0	0
LILRA2	11027	broad.mit.edu	37	19	55086445	55086445	+	Silent	SNP	G	G	A	rs141931276		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55086445G>A	ENST00000251377.3	+	5	733	c.600G>A	c.(598-600)tcG>tcA	p.S200S	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.S200S|LILRA2_ENST00000391737.1_Silent_p.S188S|LILRA2_ENST00000251376.3_Silent_p.S200S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTTATGACTCGAACTCTCCCT	0.577000													36	92					0	0	0.00128727	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220398	130220398	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:130220398C>T	ENST00000276211.5	+	10	1722	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	ARHGAP36_ENST00000370921.1_Silent_p.I323I|ARHGAP36_ENST00000370922.1_Silent_p.I447I	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGAGGAAGATCCAGTGAGTGT	0.468000													32	15					0	0	0.00058488	0	0
ROS1	6098	broad.mit.edu	37	6	117609907	117609907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117609907C>T	ENST00000368508.3	-	43	6990	c.6792G>A	c.(6790-6792)atG>atA	p.M2264I	ROS1_ENST00000368507.3_Missense_Mutation_p.M2258I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2264					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)		TCTTCGTTTCCATTAAAGCAA	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	37					0	0	0.00152264	0	0
OR2V2	285659	broad.mit.edu	37	5	180582573	180582573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:180582573C>T	ENST00000328275.1	+	1	631	c.631C>T	c.(631-633)Cca>Tca	p.P211S		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCTCTTCCCATTCTCCAT	0.502000													41	120					0	0	0.00222228	0	0
TAT	6898	broad.mit.edu	37	16	71610138	71610138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:71610138C>T	ENST00000355962.4	-	2	314	c.181G>A	c.(181-183)Gac>Aac	p.D61N	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	61					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TTCATGTTGTCCACAATGGCT	0.498000													10	8					0	0	0.000978159	0	0
FAM24A	118670	broad.mit.edu	37	10	124671148	124671148	+	Splice_Site	SNP	G	G	A	rs34697731		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124671148G>A	ENST00000368894.1	+	2	119		c.e2-1			NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A							extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TTTCTCCTTAGGCATGGCAAA	0.507000													58	66					0	0	0.000781405	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896669	124896669	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:124896669G>A	ENST00000423114.2	-	5	626	c.627C>T	c.(625-627)atC>atT	p.I209I	SLC12A8_ENST00000393469.4_Silent_p.I180I|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.I180I			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	180					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCTGGAGGCGGATTATCCATT	0.557000													10	34					0	0	0.00136819	0	0
ZIC2	7546	broad.mit.edu	37	13	100635374	100635374	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:100635374C>T	ENST00000376335.3	+	1	1349	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	352					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCTCAAGATCCACAAAAGGA	0.642000													12	31					0	0	0.00185496	0	0
NELL1	4745	broad.mit.edu	37	11	20940877	20940877	+	Silent	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:20940877A>T	ENST00000298925.5	+	8	993	c.840A>T	c.(838-840)gcA>gcT	p.A280A	NELL1_ENST00000325319.5_Silent_p.A195A|NELL1_ENST00000532434.1_Silent_p.A252A|NELL1_ENST00000357134.5_Silent_p.A252A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	252	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGATGACTGCAAAAGTAGGTA	0.348000													24	46					0	0	0.001512	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915711	202915711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:202915711G>A	ENST00000340990.5	-	4	584	c.286C>T	c.(286-288)Cca>Tca	p.P96S	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P96S|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P96S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	96					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			ACATCATATGGGATGACCCTC	0.507000													13	57					0	0	0.00244969	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326359	25326359	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:25326359G>A	ENST00000546682.1	+	0	59				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						AGGCTGTTGGGATCCTCCTGG	0.498000													6	11					0	0	0.00116845	0	0
INO80D	54891	broad.mit.edu	37	2	206921299	206921299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:206921299G>A	ENST00000403263.1	-	4	991	c.587C>T	c.(586-588)cCc>cTc	p.P196L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	196					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGCAGGAGGGGGACTAAAGTG	0.537000													5	8					0	0	0.000602214	0	0
CAMK1G	57172	broad.mit.edu	37	1	209785559	209785559	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:209785559A>T	ENST00000009105.1	+	11	1583	c.1338A>T	c.(1336-1338)aaA>aaT	p.K446N	CAMK1G_ENST00000361322.2_Missense_Mutation_p.K446N			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	446						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCAACAAAAAACAGTACGTAT	0.512000													8	31					0	0	0.000442599	0	0
TRPC4	7223	broad.mit.edu	37	13	38237841	38237841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:38237841G>A	ENST00000379705.3	-	6	2257	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	TRPC4_ENST00000358477.2_Missense_Mutation_p.S467L|TRPC4_ENST00000447043.1_Missense_Mutation_p.S467L|TRPC4_ENST00000355779.2_Missense_Mutation_p.S467L|TRPC4_ENST00000379679.1_Missense_Mutation_p.S294L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.S467L|TRPC4_ENST00000338947.5_Missense_Mutation_p.S294L|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.S467L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	467					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.S467L(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATGTCCCATGATTCTCGTGG	0.423000													13	25					0	0	0.00244969	0	0
COL11A1	1301	broad.mit.edu	37	1	103388896	103388896	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:103388896G>C	ENST00000358392.2	-	47	4003	c.3686C>G	c.(3685-3687)cCc>cGc	p.P1229R	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1217R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1101R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1178R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1217	Triple-helical 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)		ACTTACCATGGGACCAACATC	0.338000													4	15					0	0	0.00024832	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471570	61471570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61471570G>T	ENST00000398019.2	+	8	1169	c.844G>T	c.(844-846)Gag>Tag	p.E282*	SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.E282*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.E265*|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.E282*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	282					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTTCAAGATAGAGAAGAATTA	0.398000													11	37					0.000673444	0.0026062	0.000673444	1	0
TNXB	7148	broad.mit.edu	37	6	32036257	32036257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32036257C>T	ENST00000375244.3	-	17	6331	c.6130G>A	c.(6130-6132)Ggc>Agc	p.G2044S	TNXB_ENST00000375247.2_Missense_Mutation_p.G2044S			P22105	TENX_HUMAN	tenascin XB	2126					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						GGCTCCAGGCCCGAGATGGTG	0.602000													91	250					0	0	0.000781405	0	0
TCP11	6954	broad.mit.edu	37	6	35088283	35088283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:35088283G>A	ENST00000311875.5	-	7	1312	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	TCP11_ENST00000373974.4_Missense_Mutation_p.L253F|TCP11_ENST00000444780.2_Missense_Mutation_p.L294F|TCP11_ENST00000412155.2_Missense_Mutation_p.L248F|TCP11_ENST00000418521.2_Missense_Mutation_p.L223F|TCP11_ENST00000244645.3_Missense_Mutation_p.L224F|TCP11_ENST00000512012.1_Missense_Mutation_p.L286F|TCP11_ENST00000373979.2_Missense_Mutation_p.L224F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	286					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GTGGGGCTGAGGGGCTCTGGG	0.572000													35	80					0	0	0.000692331	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307492	140307492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140307492G>A	ENST00000253807.2	+	1	1015	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2												p.E339K(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522000													35	78					0	0	0.00148497	0	0
TTN	7273	broad.mit.edu	37	2	179659879	179659879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179659879G>A	ENST00000589042.1	-	7	1239	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	TTN_ENST00000591111.1_Missense_Mutation_p.P339S|TTN_ENST00000342992.6_Missense_Mutation_p.P339S|TTN_ENST00000359218.5_Missense_Mutation_p.P339S|TTN_ENST00000360870.5_Missense_Mutation_p.P339S|TTN_ENST00000460472.2_Missense_Mutation_p.P339S|TTN_ENST00000342175.6_Missense_Mutation_p.P339S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	339	ZIS1.						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)			GGCACTTCAGGACCTGTGGCC	0.562000													24	41					0	0	0.000586117	0	0
ERBB4	2066	broad.mit.edu	37	2	212570094	212570094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:212570094C>T	ENST00000342788.4	-	10	1457	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	ERBB4_ENST00000402597.1_Missense_Mutation_p.A383T|ERBB4_ENST00000436443.1_Missense_Mutation_p.A383T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	383					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGTCTATGGCTTCAATTGCA	0.323000										TSP Lung(8;0.080)			24	94					0	0	0.00127121	0	0
C2CD2	25966	broad.mit.edu	37	21	43342116	43342116	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43342116G>A	ENST00000380486.3	-	3	698	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	C2CD2_ENST00000329623.7_5'UTR	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	153						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ATGTCGTACAGCCGGCATCCA	0.542000													13	40					0	0	0.00244969	0	0
MYH1	4619	broad.mit.edu	37	17	10417143	10417143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10417143G>A	ENST00000226207.5	-	8	830	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	246	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTACAAAGCGAGAGGAGTTG	0.498000													19	20					0	0	0.00278032	0	0
TDRKH	11022	broad.mit.edu	37	1	151748675	151748675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:151748675G>A	ENST00000368822.1	-	8	1747	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	TDRKH_ENST00000440583.2_Nonsense_Mutation_p.R148*|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.R327*|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.R368*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.R372*			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	372	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGGGCTCGATACCAGGAA	0.507000													40	59					0	0	0.00195071	0	0
RGL2	5863	broad.mit.edu	37	6	33264882	33264882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33264882G>A	ENST00000497454.1	-	3	662	c.167C>T	c.(166-168)tCc>tTc	p.S56F	PFDN6_ENST00000463584.1_3'UTR|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	56					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ATCCCAGACGGACACAGGGGC	0.582000													16	61					0	0	0.00074312	0	0
OR52L1	338751	broad.mit.edu	37	11	6007946	6007946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:6007946G>A	ENST00000332249.4	-	1	269	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGTGCAAGGATGGGTCCAT	0.537000													9	21					0	0	0.000442599	0	0
SLC44A2	57153	broad.mit.edu	37	19	10741781	10741781	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10741781C>T	ENST00000586078.1	+	5	403	c.294C>T	c.(292-294)ccC>ccT	p.P98P	SLC44A2_ENST00000407327.4_Silent_p.P96P|SLC44A2_ENST00000335757.5_Silent_p.P98P	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	98					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GTGCCAGCCCCCTGGTTCTGC	0.458000													37	69					0	0	0.00111076	0	0
DNAH17	8632	broad.mit.edu	37	17	76490830	76490830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76490830G>A	ENST00000389840.5	-	40	6197	c.6073C>T	c.(6073-6075)Ccc>Tcc	p.P2025S	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2034S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCTGGGGTCGCCCCTC	0.627000													19	19					0	0	0.000958276	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798846	55798846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55798846C>T	ENST00000313555.1	+	1	952	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTATTTAAATCGTTTAAGAAT	0.264000													27	40					0	0	0.000878237	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717313	13717313	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13717313G>A	ENST00000279593.3	-	13	3068	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	953					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P953P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTCCTCACAGGGCGGGTTGT	0.547000													38	74					0	0	0.00111076	0	0
NYAP2	57624	broad.mit.edu	37	2	226447550	226447550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:226447550C>T	ENST00000272907.6	+	4	1830	c.1417C>T	c.(1417-1419)Cct>Tct	p.P473S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	473	Pro-rich.																TCCTTCAGTGCCTCACTCGAC	0.662000													17	34					0	0	0.00074312	0	0
CCSER1	401145	broad.mit.edu	37	4	91229803	91229803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:91229803G>A	ENST00000509176.1	+	2	656	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	CCSER1_ENST00000333691.8_Missense_Mutation_p.R123Q|CCSER1_ENST00000432775.2_Missense_Mutation_p.R123Q	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AGTAGTTCACGAAATAAGAAG	0.363000													24	24					0	0	0.00047179	0	0
C10orf120	399814	broad.mit.edu	37	10	124459258	124459258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124459258C>T	ENST00000329446.4	-	1	80	c.49G>A	c.(49-51)Gct>Act	p.A17T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	17										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTGTCACTAGCCCTCTGTTTT	0.433000													16	39					0	0	0.00188189	0	0
C7	730	broad.mit.edu	37	5	40962188	40962188	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:40962188T>C	ENST00000313164.9	+	13	2022	c.1661_splice	c.e13-1	p.L555_splice		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	555					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCCTTCCAGGTTGCTTGAACC	0.358000													5	14					0	0	0.000602214	0	0
MID2	11043	broad.mit.edu	37	X	107084242	107084242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:107084242C>T	ENST00000262843.6	+	2	895	c.347C>T	c.(346-348)tCc>tTc	p.S116F	MID2_ENST00000443968.2_Missense_Mutation_p.S116F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	116						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GGGCCCAATTCCCCTAGTGAG	0.562000													7	5					0	0	0.000157383	0	0
FAM193B	54540	broad.mit.edu	37	5	176951899	176951899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176951899G>A	ENST00000329540.5	-	9	3290	c.461C>T	c.(460-462)cCt>cTt	p.P154L	FAM193B_ENST00000514747.1_Missense_Mutation_p.P528L|FAM193B_ENST00000443375.2_Missense_Mutation_p.P495L			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	204										kidney(1)|large_intestine(3)	4						GTTGATGTCAGGCTGCTGCTC	0.582000													4	7					0	0	0.00024832	0	0
MAST1	22983	broad.mit.edu	37	19	12958443	12958443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:12958443C>T	ENST00000251472.4	+	6	545	c.506C>T	c.(505-507)tCc>tTc	p.S169F	MAST1_ENST00000591495.1_Missense_Mutation_p.S165F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	169					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCTCCCCCTCCTCCTACGAC	0.627000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0	0	0.00244969	0	0
PTPRM	5797	broad.mit.edu	37	18	8370887	8370887	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:8370887G>A	ENST00000332175.8	+	22	4052		c.e22-1		PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						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)				GTTTTCTAAAGGTCAAATGCT	0.343000													22	42					0	0	0.00106085	0	0
DAB1	1600	broad.mit.edu	37	1	57538053	57538053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:57538053G>A	ENST00000371236.2	-	5	604	c.341C>T	c.(340-342)tCc>tTc	p.S114F	DAB1_ENST00000414851.2_Missense_Mutation_p.S114F|DAB1_ENST00000371234.4_Missense_Mutation_p.S114F|DAB1_ENST00000371230.1_Missense_Mutation_p.S114F|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S114F|DAB1_ENST00000371231.1_Missense_Mutation_p.S114F			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	114	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCAATGTAGGATATTTCATG	0.438000													50	20					0	0	0.000781405	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030320	110030320	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:110030320C>T	ENST00000369870.3	+	5	609	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	198								p.I198I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGAGAACATCGAGATCATCC	0.602000													221	204					0	0	0.000781405	0	0
TNR	7143	broad.mit.edu	37	1	175372391	175372391	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:175372391G>A	ENST00000367674.1	-	4	1569	c.861C>T	c.(859-861)taC>taT	p.Y287Y	TNR_ENST00000263525.2_Silent_p.Y287Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	287	Cys-rich.|EGF-like 4.				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)					CCTCACCAACGTAGCCCTCCT	0.627000													16	24					0	0	0.00074312	0	0
MICA	100507436	broad.mit.edu	37	6	31378479	31378479	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:31378479T>A	ENST00000449934.2	+	2	284	c.230T>A	c.(229-231)cTg>cAg	p.L77Q	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	77					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAAGATGTCCTGGGAAATAAG	0.542000													5	11					0	0	0.000602214	0	0
RCOR3	55758	broad.mit.edu	37	1	211487014	211487014	+	Silent	SNP	C	C	T	rs139368264		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:211487014C>T	ENST00000367005.4	+	11	1533	c.1392C>T	c.(1390-1392)ccC>ccT	p.P464P	RCOR3_ENST00000419091.2_Silent_p.P522P|RCOR3_ENST00000367006.4_3'UTR|RCOR3_ENST00000526255.1_3'UTR	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	464	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCATGCCACCCCGTCTAAACC	0.527000													22	55					0	0	0.00047179	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368548	18368548	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:18368548G>A	ENST00000392413.3	-	4	3761	c.3546C>T	c.(3544-3546)caC>caT	p.H1182H	KIAA1683_ENST00000600328.2_Silent_p.H995H|KIAA1683_ENST00000600359.2_Silent_p.H949H	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCATCTGCCAGTGCCGGGCTT	0.677000													7	20					0	0	0.00198382	0	0
TTN	7273	broad.mit.edu	37	2	179536836	179536836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179536836G>A	ENST00000589042.1	-	155	35313	c.35089C>T	c.(35089-35091)Cat>Tat	p.H11697Y	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H11323Y|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H10396Y|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11565	Glu-rich.|Pro-rich.						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)			TCTACTTCATGAAACTCGCCT	0.343000													20	37					0	0	0.000958276	0	0
A2ML1	144568	broad.mit.edu	37	12	8994114	8994114	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:8994114G>A	ENST00000299698.7	+	11	1410	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	254						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTGGAATGGGACAGACGTTT	0.468000													15	40					0	0	0.000308642	0	0
C12orf49	79794	broad.mit.edu	37	12	117155666	117155666	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117155666G>A	ENST00000261318.3	-	5	727	c.567C>T	c.(565-567)ccC>ccT	p.P189P	C12orf49_ENST00000536380.1_Silent_p.P159P|C12orf49_ENST00000548356.1_Silent_p.P30P	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	189						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ACTTTGCTATGGGGTCCCGGT	0.587000													9	16					0	0	0.00185496	0	0
TNR	7143	broad.mit.edu	37	1	175331828	175331828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:175331828C>T	ENST00000367674.1	-	14	3533	c.2825G>A	c.(2824-2826)aGc>aAc	p.S942N	TNR_ENST00000263525.2_Missense_Mutation_p.S942N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	942	Fibronectin type-III 7.				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)					GATGCGCTCGCTTTCCTCCCT	0.542000													12	44					0	0	0.00185496	0	0
FCRL6	343413	broad.mit.edu	37	1	159777981	159777981	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159777981C>T	ENST00000321935.6	+	4	173	c.87C>T	c.(85-87)ctC>ctT	p.L29L	FCRL6_ENST00000339348.5_Silent_p.L22L|FCRL6_ENST00000368106.3_Silent_p.L22L|FCRL6_ENST00000392235.3_Silent_p.L22L			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	22	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGCTGTACCTCCAAGCCTGGC	0.562000													13	26					0	0	0.000566183	0	0
PLCH2	9651	broad.mit.edu	37	1	2435905	2435905	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:2435905C>T	ENST00000419816.2	+	22	3778	c.3504C>T	c.(3502-3504)agC>agT	p.S1168S	PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Silent_p.S1168S|PLCH2_ENST00000378488.3_Silent_p.S1132S|PLCH2_ENST00000449969.1_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1168					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGGCCGCAGCCGTGAGAACC	0.662000													10	11					0	0	0.00136819	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665797	19665797	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:19665797C>T	ENST00000328041.6	+	12	1313	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	372						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAGGTGGCCATCAAAATCC	0.537000													28	50					0	0	0.00127121	0	0
BAD	572	broad.mit.edu	37	11	64037604	64037604	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64037604G>A	ENST00000544785.1	-	2	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F	BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						AGGCCTGAGGGAAGTACTTCC	0.602000													4	8					0	0	0.00024832	0	0
SCN9A	6335	broad.mit.edu	37	2	167168110	167168110	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:167168110A>G	ENST00000375387.4	-	2	497	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	SCN9A_ENST00000303354.6_Silent_p.L53L|SCN9A_ENST00000409435.1_Silent_p.L53L|SCN9A_ENST00000409672.1_Silent_p.L53L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	53						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGCTTCCAAGTCACTGCTT	0.483000													40	94					0	0	0.0025221	0	0
WDR35	57539	broad.mit.edu	37	2	20135990	20135990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:20135990G>A	ENST00000345530.3	-	21	2552	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.R378*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.R802*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	813										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTTTTGTCGATCAGCAAAG	0.453000													17	47					0	0	0.000566183	0	0
TACC2	10579	broad.mit.edu	37	10	123845785	123845785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:123845785C>T	ENST00000369005.1	+	4	4110	c.3770C>T	c.(3769-3771)tCc>tTc	p.S1257F	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S1257F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S1257F|TACC2_ENST00000453444.2_Missense_Mutation_p.S1257F|TACC2_ENST00000334433.3_Missense_Mutation_p.S1257F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1257						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAGCTGTTTCCTCTGCAGAC	0.592000													25	31					0	0	0.000878237	0	0
UMODL1	89766	broad.mit.edu	37	21	43510455	43510455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43510455G>A	ENST00000400427.1	+	6	1018	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	UMODL1_ENST00000408989.2_Missense_Mutation_p.E280K|UMODL1_ENST00000400424.1_Missense_Mutation_p.E208K|UMODL1_ENST00000408910.2_Missense_Mutation_p.E280K	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	280						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTCTGGAAGGGAACTGTGCGC	0.562000													13	51					0	0	0.000422831	0	0
STEAP4	79689	broad.mit.edu	37	7	87912423	87912423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:87912423G>A	ENST00000380079.4	-	3	618	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.L173F|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	173					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTAAGTCCAAGATTACGAACA	0.388000													13	40					0	0	0.00244969	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326802	37326802	+	Silent	SNP	G	G	A	rs138918081		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:37326802G>A	ENST00000262825.5	+	8	1177	c.960G>A	c.(958-960)gcG>gcA	p.A320A	CSF2RB_ENST00000403662.3_Silent_p.A314A|CSF2RB_ENST00000406230.1_Silent_p.A320A|CSF2RB_ENST00000536485.1_Silent_p.A261A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	314					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCGACCCCGCGACCCACGGCC	0.612000													19	32					0	0	0.00229938	0	0
DIP2B	57609	broad.mit.edu	37	12	51135318	51135318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:51135318G>A	ENST00000301180.5	+	37	4508	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1492						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAGCATTGCTGAATGGTAACT	0.468000													19	42					0	0	0.00188189	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542422	40542422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:40542422G>A	ENST00000434248.1	-	5	409	c.344C>T	c.(343-345)gCc>gTc	p.A115V	ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAATAAAAGGCCTCGAGGCC	0.328000													5	21					0	0	0.000602214	0	0
RSPH3	83861	broad.mit.edu	37	6	159398662	159398662	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:159398662G>T	ENST00000367069.2	-	8	1801	c.1165C>A	c.(1165-1167)Cag>Aag	p.Q389K	RSPH3_ENST00000449822.1_Missense_Mutation_p.Q293K|RSPH3_ENST00000297262.3_Missense_Mutation_p.Q435K|RSPH3_ENST00000252655.1_Missense_Mutation_p.Q531K			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	531								p.Q531K(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTCCTTTCCTGGGATGACCTT	0.473000													8	208					0.000157383	0.000610071	0.000157383	1	0
IL12A	3592	broad.mit.edu	37	3	159713239	159713239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:159713239G>A	ENST00000305579.2	+	7	962	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	IL12A_ENST00000480787.1_Missense_Mutation_p.E181K|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Missense_Mutation_p.E205K	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	185					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTCCCTTGAAGAACCGGATTT	0.383000													29	50					0	0	0.00127121	0	0
HEPH	9843	broad.mit.edu	37	X	65413365	65413365	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:65413365G>A	ENST00000519389.1	+	8	1595	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	HEPH_ENST00000419594.1_Silent_p.Q421Q|HEPH_ENST00000336279.5_Silent_p.Q151Q|HEPH_ENST00000374727.3_Silent_p.Q421Q|HEPH_ENST00000441993.2_Silent_p.Q421Q|HEPH_ENST00000343002.2_Silent_p.Q418Q			Q9BQS7	HEPH_HUMAN	hephaestin	418	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGTTTTTCCAGAAGAGCTCCA	0.398000													6	12					0	0	0.000157383	0	0
AP001347.6	0	broad.mit.edu	37	21	15399841	15399841	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:15399841C>T	ENST00000428809.1	+	0	100																											TTCTGCCACTCCCTCCGTCGC	0.577000													9	21					0	0	0.000274275	0	0
CES5A	221223	broad.mit.edu	37	16	55886868	55886868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:55886868G>A	ENST00000521992.1	-	11	1430	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	CES5A_ENST00000319165.9_Nonsense_Mutation_p.R400*|CES5A_ENST00000290567.9_Nonsense_Mutation_p.R400*|CES5A_ENST00000518005.1_Nonsense_Mutation_p.R294*|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Nonsense_Mutation_p.R370*	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	400						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGACTGTCTCGGATTTCAGTC	0.478000													28	26					0	0	0.00106085	0	0
PALLD	23022	broad.mit.edu	37	4	169433098	169433098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:169433098C>T	ENST00000261509.6	+	2	654	c.443C>T	c.(442-444)cCc>cTc	p.P148L	PALLD_ENST00000333488.4_Missense_Mutation_p.P25L|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.P148L	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	148					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCAAAAACTCCCAGCACAAAC	0.527000									Pancreatic Cancer, Familial Clustering of				19	47					0	0	0.000958276	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174092	63174092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:63174092G>A	ENST00000279178.3	+	7	1446	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	399					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTGCACCTTGGGCACTGAAAT	0.488000													22	27					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179621344	179621344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179621344G>A	ENST00000589042.1	-	46	11083	c.10859C>T	c.(10858-10860)tCc>tTc	p.S3620F	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.S3449F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3307							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)			TGTGTGGATGGAACTTTGAGA	0.378000													21	45					0	0	0.00152264	0	0
KCNA1	3736	broad.mit.edu	37	12	5021586	5021586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5021586G>A	ENST00000382545.3	+	2	2149	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	348					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTACTTTGCCGAGGCGGAAGA	0.537000													36	71					0	0	0.00128727	0	0
EPPK1	83481	broad.mit.edu	37	8	144945056	144945056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144945056G>A	ENST00000525985.1	-	2	2437	c.2366C>T	c.(2365-2367)cCc>cTc	p.P789L				P58107	EPIPL_HUMAN	epiplakin 1	789						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCGTCTCGGGGTCACGCAC	0.627000													9	24					0	0	0.000442599	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678171	66678171	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:66678171G>A	ENST00000360242.5	+	7	1381	c.1263_splice	c.e7-1	p.E422_splice	CCDC102B_ENST00000319445.6_Splice_Site_p.E422_splice|CCDC102B_ENST00000584156.1_Splice_Site_p.E422_splice	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	422										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTTTGAAAGGAATTACTGAA	0.318000													4	24					0	0	0.00024832	0	0
TTYH2	94015	broad.mit.edu	37	17	72249964	72249964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:72249964C>T	ENST00000441391.2	+	7	1765	c.553C>T	c.(553-555)Ccg>Tcg	p.P185S	TTYH2_ENST00000269346.4_Missense_Mutation_p.P506S|TTYH2_ENST00000529107.1_Missense_Mutation_p.P485S	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	506						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						AGCCTCCCCTCCGCCTACGGT	0.552000													38	41					0	0	0.000814825	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505221	37505221	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37505221G>A	ENST00000374660.1	+	38	3270	c.3171G>A	c.(3169-3171)aaG>aaA	p.K1057K	ANKRD30A_ENST00000361713.1_Silent_p.K938K|ANKRD30A_ENST00000602533.1_Silent_p.K938K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1060						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGAAAAAGAAGTTTTGTG	0.338000													22	64					0	0	0.00278032	0	0
PRDM14	63978	broad.mit.edu	37	8	70978470	70978470	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:70978470C>A	ENST00000276594.2	-	5	1384	c.1183_splice	c.e5+1	p.E395_splice		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTGCACTCACCTTCAGAGGGC	0.557000													20	38					8.28177e-16	3.23698e-15	0.000958276	1	0
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248308964G>A	ENST00000366476.1	+	1	515	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					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)			TGTGGGTCTCGGGAAATAGCC	0.428000													74	195					0	0	0.000781405	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279469	42279469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:42279469G>A	ENST00000399518.3	-	17	2422	c.1936C>T	c.(1936-1938)Ctt>Ttt	p.L646F	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L617F|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	634	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CGATGGGTAAGGATTTCTCGG	0.527000													17	9					0	0	0.000566183	0	0
CHST9	83539	broad.mit.edu	37	18	24496881	24496881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:24496881G>A	ENST00000284224.8	-	6	951	c.674C>T	c.(673-675)tCc>tTc	p.S225F	CHST9_ENST00000581714.1_Missense_Mutation_p.S225F|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	225					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTTCCAATTGGAACAGCCAGC	0.393000													30	46					0	0	0.00106085	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539863	142539863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:142539863G>A	ENST00000295992.3	-	8	1280	c.974C>T	c.(973-975)aCc>aTc	p.T325I	PCOLCE2_ENST00000485766.1_Silent_p.N245N	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	325	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCGAGTGATGGTTGTGATAAC	0.453000													22	34					0	0	0.000720815	0	0
GRM4	2914	broad.mit.edu	37	6	34008079	34008079	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:34008079T>C	ENST00000374181.3	-	7	1551	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S	GRM4_ENST00000455714.2_Missense_Mutation_p.N321S|GRM4_ENST00000535756.1_Missense_Mutation_p.N328S|GRM4_ENST00000544773.1_Missense_Mutation_p.N292S|GRM4_ENST00000538487.1_Missense_Mutation_p.N461S|GRM4_ENST00000545715.1_Missense_Mutation_p.N153S|GRM4_ENST00000374177.3_Missense_Mutation_p.N345S	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	461					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGTCACAGGGTTCCCTGCGAT	0.577000													24	91					0	0	0.000586117	0	0
PHC3	80012	broad.mit.edu	37	3	169846476	169846476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169846476G>A	ENST00000494943.1	-	8	1816	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	PHC3_ENST00000467570.1_Missense_Mutation_p.P542L|PHC3_ENST00000495893.1_Missense_Mutation_p.P595L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	583	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCTTACCACTGGTGGATCAAC	0.448000													20	19					0	0	0.00188189	0	0
TMEM119	338773	broad.mit.edu	37	12	108985675	108985675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:108985675G>A	ENST00000392806.3	-	2	653	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	162						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGCTTCCTCGGGCCTGCTGTC	0.692000													8	14					0	0	0.000978159	0	0
PPP1CB	5500	broad.mit.edu	37	2	29006808	29006808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:29006808C>T	ENST00000395366.2	+	5	828	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	PPP1CB_ENST00000296122.6_Missense_Mutation_p.R186W|SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Missense_Mutation_p.R186W	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	186					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGAGCAGATTCGGAGAATTAT	0.328000													27	36					0	0	0.00058488	0	0
KRT40	125115	broad.mit.edu	37	17	39138607	39138607	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39138607C>T	ENST00000377755.4	-	3	673	c.639G>A	c.(637-639)gtG>gtA	p.V213V	KRT40_ENST00000398486.2_Silent_p.V213V			Q6A162	K1C40_HUMAN	keratin 40	213	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCAGAGACTCCACATGGGCCT	0.507000													19	66					0	0	0.00074312	0	0
GP6	51206	broad.mit.edu	37	19	55525974	55525974	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55525974G>A	ENST00000310373.3	-	8	1366	c.1339C>T	c.(1339-1341)Cta>Tta	p.L447L	CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	65					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GCCCATATTAGAGAGGTTGAA	0.542000													27	81					0	0	0.00283554	0	0
ZNF221	7638	broad.mit.edu	37	19	44471131	44471131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44471131C>T	ENST00000251269.5	+	6	1805	c.1477C>T	c.(1477-1479)Ctt>Ttt	p.L493F	ZNF221_ENST00000587682.1_Missense_Mutation_p.L493F|ZNF221_ENST00000592350.1_Missense_Mutation_p.L493F	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGCCTCCTGTCTTTTGAAACA	0.453000													20	46					0	0	0.00229938	0	0
EPS8L2	64787	broad.mit.edu	37	11	723296	723296	+	Missense_Mutation	SNP	C	C	T	rs142895363	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:723296C>T	ENST00000533256.1	+	16	1772	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S482L|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S466L|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S466L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	466						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCCACTTCAGAGCCCACC	0.602000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	31					0	0	0.000422831	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265028	32265028	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:32265028A>G	ENST00000360482.2	-	7	1971	c.1842T>C	c.(1840-1842)cgT>cgC	p.R614R	SPOCD1_ENST00000533231.1_Silent_p.R614R|SPOCD1_ENST00000257100.3_Silent_p.R107R|SPOCD1_ENST00000373648.2_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	614	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTGCATGGAACGGACAACAG	0.652000													4	16					0	0	0.000157383	0	0
SMYD3	64754	broad.mit.edu	37	1	246078853	246078853	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:246078853G>A	ENST00000490107.1	-	8	831	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SMYD3_ENST00000388985.4_Silent_p.F264F|SMYD3_ENST00000541742.1_Silent_p.F205F|SMYD3_ENST00000366517.1_5'UTR	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	264	S-adenosyl-L-methionine binding.|SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TTTGGCAACGGAAACAGTCAC	0.498000													19	57					0	0	0.00121646	0	0
DSG4	147409	broad.mit.edu	37	18	28991307	28991307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:28991307G>A	ENST00000359747.4	+	14	2337	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G751R|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	751					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			aggggccgcaggagcctcagg	0.622000													20	32					0	0	0.00188189	0	0
PTGS1	5742	broad.mit.edu	37	9	125148901	125148901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125148901G>A	ENST00000362012.2	+	9	1191	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	PTGS1_ENST00000540753.1_Splice_Site|PTGS1_ENST00000373698.5_Missense_Mutation_p.V287M|PTGS1_ENST00000223423.4_Splice_Site|AL162424.1_ENST00000600713.1_Intron	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	396					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CTCCTTCAAGGTGGGCTCCCA	0.557000													36	130					0	0	0.000814825	0	0
ST18	9705	broad.mit.edu	37	8	53074052	53074052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:53074052C>T	ENST00000276480.7	-	14	2160	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	493						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCTCTTGTTCTTTTGACACT	0.448000													32	65					0	0	0.00283554	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069353	114069353	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:114069353G>A	ENST00000462705.1	-	11	2174	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ZBTB20_ENST00000481632.1_Silent_p.F451F|ZBTB20_ENST00000393785.2_Silent_p.F451F|ZBTB20_ENST00000474710.1_Silent_p.F524F|ZBTB20_ENST00000357258.3_Silent_p.F451F|ZBTB20_ENST00000471418.1_Silent_p.F451F|ZBTB20_ENST00000464560.1_Silent_p.F451F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCTGAAGAGGAAAGGCTTGG	0.632000													16	43					0	0	0.000566183	0	0
CWH43	80157	broad.mit.edu	37	4	48996765	48996765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:48996765G>A	ENST00000226432.4	+	5	824	c.641G>A	c.(640-642)gGa>gAa	p.G214E	CWH43_ENST00000513409.1_Missense_Mutation_p.G187E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	214					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGGTTTTTGGAGAAGTCTCT	0.542000													27	72					0	0	0.00209593	0	0
UXT	8409	broad.mit.edu	37	X	47516985	47516985	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:47516985G>A	ENST00000335890.2	-	3	423	c.270C>T	c.(268-270)ttC>ttT	p.F90F	UXT_ENST00000333119.3_Silent_p.F78F	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	78					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						CTGTGTCAACGAAGAAGTTAC	0.488000													6	2					0	0	0.000274275	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027858	150027858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:150027858C>T	ENST00000343855.4	+	1	921	c.365C>T	c.(364-366)cCc>cTc	p.P122L	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		TCCCCAAGTCCCCTGCAAAGC	0.607000													13	29					0	0	0.000308642	0	0
CNGB3	54714	broad.mit.edu	37	8	87738817	87738817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:87738817G>A	ENST00000320005.5	-	3	327	c.280C>T	c.(280-282)Cca>Tca	p.P94S	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	94					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTCCAGTTGGTTCTGCTGCA	0.398000													97	191					0	0	0.000781405	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051416	38051416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38051416G>A	ENST00000261439.4	+	11	2162	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.E603K	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	603						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTCCCCATCGAATGCCAGGA	0.597000													33	64					0	0	0.000692331	0	0
GABRA1	2554	broad.mit.edu	37	5	161281227	161281227	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:161281227G>A	ENST00000428797.2	+	4	493	c.138G>A	c.(136-138)ttG>ttA	p.L46L	GABRA1_ENST00000437025.2_Silent_p.L46L|GABRA1_ENST00000393943.4_Silent_p.L46L|GABRA1_ENST00000444819.1_Silent_p.L46L|GABRA1_ENST00000023897.6_Silent_p.L46L|GABRA1_ENST00000420560.1_Silent_p.L46L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	46					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCAGGATTTTGGACAGACTCC	0.363000													35	95					0	0	0.00128727	0	0
KCNH7	90134	broad.mit.edu	37	2	163302565	163302565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:163302565G>A	ENST00000332142.5	-	7	1616	c.1517C>T	c.(1516-1518)cCt>cTt	p.P506L	KCNH7_ENST00000328032.4_Missense_Mutation_p.P499L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	506					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CAAGTCAAAAGGAATTGCTGC	0.348000													8	33					0	0	0.000274275	0	0
NME8	51314	broad.mit.edu	37	7	37934091	37934091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:37934091G>A	ENST00000199447.4	+	16	1795	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	NME8_ENST00000440017.1_Missense_Mutation_p.E475K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	475	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GATAGTTAAGGAGGCTGGATT	0.328000													33	58					0	0	0.000692331	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900186	4900186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:4900186G>A	ENST00000404991.1	-	1	1439	c.1253C>T	c.(1252-1254)cCa>cTa	p.P418L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	418					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAATGACTGTGGATTCACATG	0.403000													86	181					0	0	0.000781405	0	0
C20orf194	25943	broad.mit.edu	37	20	3297412	3297412	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3297412G>A	ENST00000252032.9	-	18	1564	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	C20orf194_ENST00000453730.2_Silent_p.S237S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	499										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCAGGACTACGGAGCTGGTTT	0.537000													12	33					0	0	0.000566183	0	0
PCSK5	5125	broad.mit.edu	37	9	78808173	78808173	+	Missense_Mutation	SNP	G	G	A	rs148131474		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:78808173G>A	ENST00000376752.4	+	21	3124	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	883	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTCCTGGGCGGAAGGAGGCTT	0.468000													4	40					0	0	0.000602214	0	0
ZNF560	147741	broad.mit.edu	37	19	9577554	9577554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9577554C>T	ENST00000301480.4	-	10	2282	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAAGGAATTTCCACATGCGTT	0.373000													47	103					0	0	0.000781405	0	0
ARMC8	25852	broad.mit.edu	37	3	137956154	137956154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:137956154C>T	ENST00000469044.1	+	8	884	c.613C>T	c.(613-615)Cga>Tga	p.R205*	ARMC8_ENST00000481646.1_Nonsense_Mutation_p.R191*|ARMC8_ENST00000461822.1_Nonsense_Mutation_p.R205*|ARMC8_ENST00000471453.1_Nonsense_Mutation_p.R191*|ARMC8_ENST00000538260.1_Nonsense_Mutation_p.R174*|ARMC8_ENST00000491704.1_Nonsense_Mutation_p.R163*|ARMC8_ENST00000489213.1_Nonsense_Mutation_p.R163*|ARMC8_ENST00000393058.3_Nonsense_Mutation_p.R195*|ARMC8_ENST00000470821.1_Nonsense_Mutation_p.R205*|ARMC8_ENST00000358441.2_Nonsense_Mutation_p.R191*|ARMC8_ENST00000485396.1_Nonsense_Mutation_p.R132*	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	205							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTTACAGGTTCGAATGCAAGC	0.343000													111	292					0	0	0.000781405	0	0
POMC	5443	broad.mit.edu	37	2	25384144	25384144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:25384144C>T	ENST00000405623.1	-	3	1065	c.610G>A	c.(610-612)Gac>Aac	p.D204N	POMC_ENST00000380794.1_Missense_Mutation_p.D204N|POMC_ENST00000264708.3_Missense_Mutation_p.D204N|POMC_ENST00000395826.2_Missense_Mutation_p.D204N			P01189	COLI_HUMAN	proopiomelanocortin	204					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	p.D204N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TGCTCCAGGTCGGCCTGGGCC	0.701000													4	8					0	0	0.000602214	0	0
CIC	23152	broad.mit.edu	37	19	42794781	42794781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:42794781C>T	ENST00000572681.2	+	11	4656	c.4588C>T	c.(4588-4590)Ccc>Tcc	p.P1530S	CIC_ENST00000575354.2_Missense_Mutation_p.P621S|CIC_ENST00000160740.3_Missense_Mutation_p.P621S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	621	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGCGGCCCCTCCCAGCGGAGG	0.672000			"""Mis, F, S"""		oligodendroglioma								32	43					0	0	0.0024448	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767828	77767828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77767828G>A	ENST00000521891.2	+	10	9119	c.8671G>A	c.(8671-8673)Gac>Aac	p.D2891N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2846N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2846N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2865N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2846						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATCACAGATGACCCGGATGA	0.493000										HNSCC(33;0.089)			11	41					0	0	0.00136819	0	0
ADCY8	114	broad.mit.edu	37	8	131921957	131921957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131921957G>A	ENST00000286355.5	-	6	3729	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P546L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	546					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P546H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCTTACCCAGGGATTCCTCC	0.453000										HNSCC(32;0.087)			48	115					0	0	0.000781405	0	0
SETBP1	26040	broad.mit.edu	37	18	42531846	42531846	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:42531846C>T	ENST00000282030.5	+	4	2837	c.2541C>T	c.(2539-2541)tcC>tcT	p.S847S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	847						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGATTGGCTCCCTAAAGGAAA	0.552000									Schinzel-Giedion syndrome				16	30					0	0	0.000422831	0	0
SCN8A	6334	broad.mit.edu	37	12	52200418	52200418	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:52200418C>T	ENST00000354534.5	+	27	5326	c.5148C>T	c.(5146-5148)aaC>aaT	p.N1716N	SCN8A_ENST00000545061.1_Silent_p.N1675N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1716					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)	CCATCCTAAACCGCCCCCCTG	0.507000													16	40					0	0	0.000308642	0	0
SEC16B	89866	broad.mit.edu	37	1	177911164	177911164	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:177911164G>A	ENST00000308284.6	-	16	1982	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L	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)	631					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						AAGCATAAAGGAGCTTATACA	0.498000													5	13					0	0	0.000602214	0	0
MROH2B	133558	broad.mit.edu	37	5	41015527	41015527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41015527C>T	ENST00000399564.4	-	29	3388	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D535N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGCACGTCATCACTTTCCAGC	0.393000													27	41					0	0	0.00178596	0	0
XRN1	54464	broad.mit.edu	37	3	142083988	142083988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:142083988G>A	ENST00000264951.4	-	29	3412	c.3295C>T	c.(3295-3297)Cgg>Tgg	p.R1099W	XRN1_ENST00000392981.2_Missense_Mutation_p.R1099W	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1099					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTGCATCCCGATCAGGAATG	0.358000													19	28					0	0	0.000586117	0	0
DNAH17	8632	broad.mit.edu	37	17	76503578	76503578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76503578C>T	ENST00000389840.5	-	28	4658	c.4534G>A	c.(4534-4536)Gac>Aac	p.D1512N	DNAH17_ENST00000585328.1_Missense_Mutation_p.D1513N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCTGGGAGTCCCCCGGGAGC	0.582000													20	19					0	0	0.00229938	0	0
DPYD	1806	broad.mit.edu	37	1	98205983	98205983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:98205983C>T	ENST00000370192.3	-	4	386	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DPYD_ENST00000306031.5_Missense_Mutation_p.D96N|DPYD_ENST00000423006.2_Missense_Mutation_p.D59N	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	96	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GATTTAATATCAAGATTAGTT	0.323000													64	119					0	0	0.000781405	0	0
MRM1	79922	broad.mit.edu	37	17	34964773	34964773	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:34964773C>T	ENST00000250156.7	+	5	1223	c.984C>T	c.(982-984)gcC>gcT	p.A328A	MRM1_ENST00000585770.1_Silent_p.A133A	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	328					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AACCCTCAGCCAGGTCTGAAG	0.567000													49	63					0	0	0.000781405	0	0
TNXB	7148	broad.mit.edu	37	6	32041670	32041670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32041670C>T	ENST00000375244.3	-	12	4636	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1479K			P22105	TENX_HUMAN	tenascin XB	1566	Fibronectin type-III 7.				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						ACTGTCAGCTCTCCTAGGCGT	0.582000													101	316					0	0	0.000781405	0	0
BTBD11	121551	broad.mit.edu	37	12	108006557	108006557	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:108006557G>A	ENST00000280758.5	+	6	2338	c.1809_splice	c.e6-1	p.G604_splice	BTBD11_ENST00000357167.4_Splice_Site_p.G141_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Splice_Site_p.G604_splice|BTBD11_ENST00000490090.2_Splice_Site_p.G604_splice	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	604						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCACCACAGGGCATGACTCC	0.522000													5	10					0	0	0.00198382	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735042	41735042	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:41735042C>T	ENST00000352645.4	+	9	920	c.663C>T	c.(661-663)ctC>ctT	p.L221L	ZC3H7B_ENST00000351589.4_Silent_p.L221L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	237					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCCCTTCTCCCCTCCACGC	0.677000													36	88					0	0	0.00222228	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33400470	33400470	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33400470C>T	ENST00000418600.2	+	5	497	c.396C>T	c.(394-396)ttC>ttT	p.F132F	SYNGAP1_ENST00000293748.5_Silent_p.F132F|SYNGAP1_ENST00000428982.2_Silent_p.F73F|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	132					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AGCAAGGCTTCCTGAGCCGAC	0.577000													4	20					0	0	0.00024832	0	0
KRT1	3848	broad.mit.edu	37	12	53069117	53069117	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53069117A>T	ENST00000252244.3	-	9	1853	c.1795T>A	c.(1795-1797)Tct>Act	p.S599T		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	599	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CGgccgccagagctgccgccg	0.711000													10	11					0	0	0.00185496	0	0
KIRREL	55243	broad.mit.edu	37	1	158059514	158059514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158059514C>T	ENST00000368172.1	+	6	632	c.620C>T	c.(619-621)cCc>cTc	p.P207L	KIRREL_ENST00000368173.3_Missense_Mutation_p.P409L|KIRREL_ENST00000360089.4_Missense_Mutation_p.P229L|KIRREL_ENST00000392272.2_Missense_Mutation_p.P290L|KIRREL_ENST00000416935.2_Missense_Mutation_p.P293L|KIRREL_ENST00000359209.6_Missense_Mutation_p.P393L			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	393	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCAGGGCCCCCCATCATCTCC	0.587000													24	48					0	0	0.00106085	0	0
RGAG1	57529	broad.mit.edu	37	X	109696331	109696331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:109696331G>A	ENST00000465301.2	+	3	2732	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	RGAG1_ENST00000540313.1_Missense_Mutation_p.G829E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	829										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACAGCCTCTGGAATGATGTCA	0.537000													66	31					0	0	0.000781405	0	0
ACKR3	57007	broad.mit.edu	37	2	237489411	237489411	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:237489411G>A	ENST00000272928.3	+	2	613	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CAGTCTGGGTGGTCAGTCTCG	0.552000													22	58					0	0	0.00047179	0	0
LAMB3	3914	broad.mit.edu	37	1	209806442	209806442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:209806442G>A	ENST00000391911.1	-	6	990	c.601C>T	c.(601-603)Cca>Tca	p.P201S	LAMB3_ENST00000356082.4_Missense_Mutation_p.P201S|LAMB3_ENST00000367030.3_Missense_Mutation_p.P201S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	201	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAGTTGCTGGAATCCCAGAC	0.463000													24	39					0	0	0.00127121	0	0
GPC6	10082	broad.mit.edu	37	13	93879809	93879809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:93879809C>T	ENST00000377047.4	+	1	715	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	34						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CGGAGAGGTCCGCCAGGCGTA	0.682000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	15					0	0	0.000274275	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214775	3214775	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3214775G>A	ENST00000380059.3	-	5	707	c.606C>T	c.(604-606)ctC>ctT	p.L202L	SLC4A11_ENST00000380056.3_Silent_p.L175L|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.L159L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	175					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCATGGCCATGAGCAGGTCCA	0.667000													23	40					0	0	0.000586117	0	0
DSP	1832	broad.mit.edu	37	6	7569517	7569517	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7569517C>T	ENST00000379802.3	+	12	1859	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	DSP_ENST00000418664.2_Silent_p.P506P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	506	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		TGCTTGTTCCCTCTGTGGGGC	0.557000													22	76					0	0	0.00152264	0	0
MTMR4	9110	broad.mit.edu	37	17	56581792	56581792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:56581792G>A	ENST00000323456.5	-	13	1481	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	MTMR4_ENST00000579925.1_Missense_Mutation_p.R453C	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	453	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCACAGCGATCTCCAAAC	0.483000													24	85					0	0	0.000720815	0	0
H1FOO	132243	broad.mit.edu	37	3	129267891	129267891	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:129267891C>T	ENST00000324382.2	+	3	431	c.426C>T	c.(424-426)ccC>ccT	p.P142P	H1FOO_ENST00000503977.1_Silent_p.P3P	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	142					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						AGATGGCCCCCGCGACGGCTC	0.617000													10	9					0	0	0.00136819	0	0
TRBV9	28586	broad.mit.edu	37	7	142240017	142240017	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142240017G>A	ENST00000390363.2	-	0	41																											CCCATGGCAGGATCTCCTAGC	0.517000													11	43					0	0	0.000673444	0	0
SHISA4	149345	broad.mit.edu	37	1	201860616	201860616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:201860616C>T	ENST00000362011.6	+	4	754	c.467C>T	c.(466-468)cCt>cTt	p.P156L	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	156	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						CCCCCACAGCCTGGCTTCATA	0.587000													21	52					0	0	0.00229938	0	0
INPP5D	3635	broad.mit.edu	37	2	234079226	234079226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:234079226G>A	ENST00000359570.5	+	18	1840	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	INPP5D_ENST00000450745.1_Missense_Mutation_p.E378K|INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.E378K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	626					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGAGAGGAGGGAGCAGAAGGT	0.582000													14	27					0	0	0.000422831	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194976	18194976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:18194976G>A	ENST00000314254.3	+	1	593	c.173G>A	c.(172-174)aGg>aAg	p.R58K	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	58						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGCATGCGCAGGAACGCTGTC	0.542000													18	47					0	0	0.00121646	0	0
USP28	57646	broad.mit.edu	37	11	113672276	113672276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:113672276G>A	ENST00000003302.4	-	24	3055	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	USP28_ENST00000544967.1_Missense_Mutation_p.S672F|USP28_ENST00000545540.1_Missense_Mutation_p.S839F|USP28_ENST00000260188.5_Missense_Mutation_p.S964F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	996					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATCATCCTTGGAAATGTCATT	0.388000													18	23					0	0	0.00152264	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:82125774G>A	ENST00000395578.1	-	2	544	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F|PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000													106	288					0	0	0.000781405	0	0
SLC25A17	10478	broad.mit.edu	37	22	41175070	41175070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:41175070G>A	ENST00000402844.3	-	1	1128	c.148C>T	c.(148-150)Caa>Taa	p.Q50*	SLC25A17_ENST00000542412.1_Nonsense_Mutation_p.Q59*|SLC25A17_ENST00000544408.1_Nonsense_Mutation_p.Q95*|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000435456.2_Nonsense_Mutation_p.Q132*			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	132					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTTGCTCCTTGAAGCTTCAGT	0.383000													18	12					0	0	0.000958276	0	0
PCK2	5106	broad.mit.edu	37	14	24567503	24567503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:24567503C>T	ENST00000216780.4	+	3	635	c.367C>T	c.(367-369)Ccg>Tcg	p.P123S	PCK2_ENST00000396973.4_Missense_Mutation_p.P123S|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Missense_Mutation_p.P135S|PCK2_ENST00000561286.1_5'UTR|NRL_ENST00000561028.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	123					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGTACAACTCCCGCCTGGTGG	0.617000													7	10					0	0	0.000157383	0	0
BRIP1	83990	broad.mit.edu	37	17	59770874	59770874	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:59770874C>T	ENST00000259008.2	-	18	2760		c.e18-1		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTAATACATCTAGAAAAAAT	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					83	70					0	0	0.000781405	0	0
OR14J1	442191	broad.mit.edu	37	6	29275144	29275144	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29275144C>T	ENST00000377160.2	+	1	742	c.678C>T	c.(676-678)atC>atT	p.I226I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGCTGAGAATCCCATCAGCTG	0.488000													43	166					0	0	0.00285205	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841861	8841861	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8841861C>T	ENST00000324060.2	+	1	546	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCAACGCCTCCATCCAGACCT	0.557000													33	75					0	0	0.000953801	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257591	19257591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:19257591G>A	ENST00000602424.2	-	8	1361	c.635C>T	c.(634-636)cCt>cTt	p.P212L	MEF2B_ENST00000409224.1_Missense_Mutation_p.P215L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P212L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P212L|MEF2B_ENST00000162023.5_Missense_Mutation_p.P212L|MEF2B_ENST00000409447.2_Intron|MEF2B_ENST00000424583.2_Missense_Mutation_p.P212L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P229L	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CAGGCCACCAGGCAGGTCTGA	0.677000													7	26					0	0	0.000157383	0	0
DCHS2	54798	broad.mit.edu	37	4	155242369	155242369	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:155242369G>A	ENST00000357232.3	-	14	2816	c.2817C>T	c.(2815-2817)atC>atT	p.I939I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	939	Cadherin 7.				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)		TGGATAGTGGGATCACCTGAA	0.284000													21	24					0	0	0.00047179	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012041	160012041	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:160012041C>T	ENST00000368089.3	-	2	508	c.282G>A	c.(280-282)ggG>ggA	p.G94G	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	94						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGCAGGTCCCCATGTGCCA	0.582000													24	37					0	0	0.000720815	0	0
C12orf77	196415	broad.mit.edu	37	12	25148921	25148921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:25148921C>T	ENST00000549828.1	-	3	431	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	C12orf77_ENST00000434912.3_Missense_Mutation_p.R21Q|C12orf77_ENST00000549262.1_Missense_Mutation_p.R21Q	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	76										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGCATCCATCGTATGCTGTC	0.502000													5	20					0	0	0.000602214	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648311	20648311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:20648311G>A	ENST00000525748.1	+	8	1591	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	440					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)	CCTCATCCGAGGAGTCACCCT	0.552000													28	37					0	0	0.00127121	0	0
OR2C1	4993	broad.mit.edu	37	16	3405993	3405993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:3405993C>T	ENST00000304936.2	+	1	105	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATGGGCATATCAGACCATCCC	0.478000													20	48					0	0	0.000586117	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050173	84050173	+	Silent	SNP	G	G	A	rs113073498	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:84050173G>A	ENST00000299709.3	-	8	1112	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	371					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGATGCTGACGATCTCGCTGA	0.592000													15	27					0	0	0.00074312	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882449	228882449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:228882449C>T	ENST00000392056.3	-	7	3167	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1041K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1041						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCCACTTCATTGGCAAAA	0.512000													24	70					0	0	0.000720815	0	0
CNTN5	53942	broad.mit.edu	37	11	99827575	99827575	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:99827575C>T	ENST00000524871.1	+	8	1001	c.711C>T	c.(709-711)tcC>tcT	p.S237S	CNTN5_ENST00000418526.2_Silent_p.S163S|CNTN5_ENST00000528682.1_Silent_p.S237S|CNTN5_ENST00000527185.1_Silent_p.S237S|CNTN5_ENST00000279463.3_Silent_p.S237S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	237	Ig-like C2-type 2.				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)		AGTTCCCTTCCTTTGTGGCGG	0.403000													19	26					0	0	0.00278032	0	0
TKTL2	84076	broad.mit.edu	37	4	164393571	164393571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:164393571G>A	ENST00000280605.3	-	1	1476	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	439						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCGGAACATGGCTAGATCCTC	0.483000													25	59					0	0	0.000878237	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215029	140215029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140215029C>T	ENST00000525929.1	+	1	1061	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S354F|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCACTTCCCTGTCTCTC	0.502000													41	70					0	0	0.00285205	0	0
LEPREL1	55214	broad.mit.edu	37	3	189690747	189690747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:189690747G>A	ENST00000319332.5	-	11	1812	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R358*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	539					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACAATCCTTCGAGCCTTTTCG	0.413000													11	31					0	0	0.00136819	0	0
SIRPG	55423	broad.mit.edu	37	20	1616917	1616917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:1616917G>A	ENST00000381580.1	-	3	745	c.566C>T	c.(565-567)tCt>tTt	p.S189F	SIRPG_ENST00000303415.3_Missense_Mutation_p.S222F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S222F|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.S222F			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	222	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GATGACCTGAGAGCGAACGTC	0.617000													17	37					0	0	0.00074312	0	0
RAI2	10742	broad.mit.edu	37	X	17819392	17819392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:17819392G>A	ENST00000545871.1	-	3	1199	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	RAI2_ENST00000451717.1_Missense_Mutation_p.P247S|RAI2_ENST00000415486.3_Missense_Mutation_p.P197S|RAI2_ENST00000360011.1_Missense_Mutation_p.P247S|RAI2_ENST00000331511.1_Missense_Mutation_p.P247S	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	247	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATGGGGATGGGAATAGGGACT	0.587000													27	12					0	0	0.00106085	0	0
PET112	5188	broad.mit.edu	37	4	152637244	152637244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:152637244G>A	ENST00000263985.6	-	5	720	c.680C>T	c.(679-681)tCc>tTc	p.S227F	PET112_ENST00000515812.1_Intron|PET112_ENST00000512306.1_Missense_Mutation_p.S227F	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	227						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCTCCACAGGACATGTCGGG	0.577000													8	21					0	0	0.000442599	0	0
ACOT11	26027	broad.mit.edu	37	1	55063089	55063089	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:55063089G>A	ENST00000371316.3	+	7	846		c.e7+1		ACOT11_ENST00000343744.2_Splice_Site|ACOT11_ENST00000481208.1_Splice_Site	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11						fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TTGCAGCCAGGTGAGGGCAGG	0.632000													4	8					0	0	0.000602214	0	0
EPHA6	285220	broad.mit.edu	37	3	96962974	96962974	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:96962974C>T	ENST00000389672.5	+	5	1487	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	EPHA6_ENST00000470610.2_Silent_p.I483I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	388	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCGCTTCATCCCAAGACATA	0.443000													12	43					0	0	0.00185496	0	0
GOLGA3	2802	broad.mit.edu	37	12	133393269	133393269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:133393269G>A	ENST00000204726.3	-	3	821	c.263C>T	c.(262-264)cCa>cTa	p.P88L	GOLGA3_ENST00000456883.2_Missense_Mutation_p.P88L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P88L|GOLGA3_ENST00000450791.2_Missense_Mutation_p.P88L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P88L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	88	Pro-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGGGCCCACTGGGCTTGTGGT	0.597000													17	45					0	0	0.00229938	0	0
LPAR3	23566	broad.mit.edu	37	1	85331711	85331711	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:85331711C>T	ENST00000440886.1	-	1	131	c.93G>A	c.(91-93)gtG>gtA	p.V31V	LPAR3_ENST00000370611.3_Silent_p.V31V|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	31					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACAAAACAATCACAAGCTTTG	0.383000													45	147					0	0	0.00285205	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881399	111881399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:111881399C>T	ENST00000393256.3	+	2	350	c.77C>T	c.(76-78)cCc>cTc	p.P26L	BCL2L11_ENST00000393253.2_Missense_Mutation_p.P26L|BCL2L11_ENST00000405953.1_Missense_Mutation_p.P26L|BCL2L11_ENST00000308659.8_Missense_Mutation_p.P26L|BCL2L11_ENST00000337565.5_Missense_Mutation_p.P26L|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P26L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	26					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GAGAGGCCTCCCCAGCTCAGA	0.547000													7	43					0	0	0.000274275	0	0
TBC1D13	54662	broad.mit.edu	37	9	131559354	131559354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131559354C>T	ENST00000372648.5	+	7	554	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.S135F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	135	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCAGACATTTCCTTCTTCCAG	0.502000													91	92					0	0	0.000781405	0	0
KRT33A	3883	broad.mit.edu	37	17	39502871	39502871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39502871G>A	ENST00000007735.3	-	6	970	c.926C>T	c.(925-927)tCc>tTc	p.S309F		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	309	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGACAGCTGGGAGCTGTAGCG	0.587000													14	48					0	0	0.00185496	0	0
ZNF208	7757	broad.mit.edu	37	19	22154204	22154204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22154204G>A	ENST00000397126.4	-	4	3780	c.3632C>T	c.(3631-3633)aCc>aTc	p.T1211I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATATCTAAGGGTTGAGGGCCA	0.373000													16	47					0	0	0.000308642	0	0
DCHS2	54798	broad.mit.edu	37	4	155157450	155157450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:155157450G>A	ENST00000357232.3	-	25	6988	c.6989C>T	c.(6988-6990)tCc>tTc	p.S2330F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2330	Cadherin 21.				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)		TATGGTAGAGGAAATAGGCAG	0.408000													11	43					0	0	0.00136819	0	0
KRT4	3851	broad.mit.edu	37	12	53207707	53207707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53207707C>T	ENST00000293774.4	-	1	628	c.358G>A	c.(358-360)Gga>Aga	p.G120R	KRT4_ENST00000551956.1_Missense_Mutation_p.G46R|KRT4_ENST00000458244.2_Missense_Mutation_p.G46R			B4DRS2	B4DRS2_HUMAN	keratin 4	46						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGCCAAATCCCCCAGAAGAG	0.602000													34	108					0	0	0.00058488	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590638	136590638	+	Missense_Mutation	SNP	C	C	T	rs147964608	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:136590638C>T	ENST00000531224.1	-	9	2408	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G717E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G717E|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G719E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G546E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G717E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	719					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTCTTGATCCACTGGATTC	0.408000													7	97					0	0	0.000157383	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228933	142228933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:142228933G>A	ENST00000519067.1	-	4	956	c.653C>T	c.(652-654)cCc>cTc	p.P218L	SLC45A4_ENST00000433583.2_Missense_Mutation_p.P211L|SLC45A4_ENST00000024061.3_Missense_Mutation_p.P218L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P269L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	269					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGGCGCCGGGCTCCTCAGC	0.672000													18	35					0	0	0.00121646	0	0
PALB2	79728	broad.mit.edu	37	16	23625360	23625360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:23625360G>A	ENST00000261584.4	-	11	3318	c.3166C>T	c.(3166-3168)Caa>Taa	p.Q1056*	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1056	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTGAAGCTTGGTAAGAATCA	0.368000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					9	29					0	0	0.00136819	0	0
ADCY8	114	broad.mit.edu	37	8	131916162	131916162	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131916162C>T	ENST00000286355.5	-	7	3859	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	ADCY8_ENST00000377928.3_Silent_p.Q589Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	589					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTCCTCAGGCTGCTTAATTA	0.478000										HNSCC(32;0.087)			32	80					0	0	0.00178596	0	0
NEB	4703	broad.mit.edu	37	2	152534213	152534213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152534213C>T	ENST00000427231.2	-	34	3842	c.3640G>A	c.(3640-3642)Gaa>Aaa	p.E1214K	NEB_ENST00000409198.1_Missense_Mutation_p.E1214K|NEB_ENST00000603639.1_Missense_Mutation_p.E1214K|NEB_ENST00000604864.1_Missense_Mutation_p.E1214K|NEB_ENST00000172853.10_Missense_Mutation_p.E1214K|NEB_ENST00000397345.3_Missense_Mutation_p.E1214K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1214					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.E1214K(3)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAACTTTTTCGACGTCGAGA	0.453000													97	201					0	0	0.000781405	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32549500	32549500	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32549500C>T	ENST00000360004.5	-	3	591	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CCTGGCCGTTCAGGAACCACC	0.547000										Multiple Myeloma(14;0.17)			7	129					0	0	0.000274275	0	0
COL4A2	1284	broad.mit.edu	37	13	111109730	111109730	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:111109730C>T	ENST00000360467.5	+	21	1686	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	460	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGAGCAGGCTTCCCTGGGC	0.617000													7	25					0	0	0.000673444	0	0
CEP44	80817	broad.mit.edu	37	4	175223258	175223258	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:175223258A>T	ENST00000503780.1	+	4	572	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	CEP44_ENST00000426172.1_Missense_Mutation_p.Y53F|CEP44_ENST00000457424.2_Missense_Mutation_p.Y53F|CEP44_ENST00000296519.4_Missense_Mutation_p.Y53F	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	53						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TACTCACCTTATGTAACAGAA	0.328000													28	59					0	0	0.00283554	0	0
ZNF143	7702	broad.mit.edu	37	11	9534078	9534078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:9534078G>A	ENST00000396602.2	+	13	1578	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	ZNF143_ENST00000299606.2_Missense_Mutation_p.A459T|ZNF143_ENST00000396604.1_Missense_Mutation_p.A486T|ZNF143_ENST00000530463.1_Missense_Mutation_p.A486T|ZNF143_ENST00000396597.3_Missense_Mutation_p.A456T	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	487					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TACACAAGTAGCCACAGTAAC	0.413000													22	47					0	0	0.00229938	0	0
OR4B1	119765	broad.mit.edu	37	11	48238470	48238470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48238470G>A	ENST00000309562.2	+	1	127	c.109G>A	c.(109-111)Gtg>Atg	p.V37M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTGCCACGGTGGTGGGCAA	0.502000													40	87					0	0	0.00222228	0	0
CORIN	10699	broad.mit.edu	37	4	47655594	47655594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:47655594C>T	ENST00000273857.4	-	13	1818	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	CORIN_ENST00000502252.1_Missense_Mutation_p.D540N|CORIN_ENST00000504584.1_Missense_Mutation_p.D570N|CORIN_ENST00000508498.1_Missense_Mutation_p.D468N|CORIN_ENST00000505909.1_Missense_Mutation_p.D570N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	607	LDL-receptor class A 5.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACTGTCATCGTCACAGTCG	0.393000													18	51					0	0	0.00121646	0	0
GALNT11	63917	broad.mit.edu	37	7	151797962	151797962	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:151797962C>T	ENST00000434507.1	+	5	812	c.375C>T	c.(373-375)gaC>gaT	p.D125D	GALNT11_ENST00000415421.1_Silent_p.D125D|GALNT11_ENST00000430044.2_Silent_p.D125D|GALNT11_ENST00000452146.2_Silent_p.D44D|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000320311.2_Silent_p.D125D|GALNT11_ENST00000422997.2_Intron			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	125						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TTATCAGTGACCGCTTGGGCT	0.408000													30	89					0	0	0.00178596	0	0
GJA10	84694	broad.mit.edu	37	6	90604299	90604299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:90604299C>T	ENST00000369352.1	+	1	112	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	38					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCTGGTACTTCGTGTGGCTGC	0.498000													26	52					0	0	0.000586117	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650331	37650331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:37650331C>T	ENST00000399151.3	+	29	5856	c.5771C>T	c.(5770-5772)cCg>cTg	p.P1924L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1924					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCTGTGCCGTTAATCTCC	0.448000													31	74					0	0	0.00111076	0	0
RBFOX2	23543	broad.mit.edu	37	22	36142011	36142011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:36142011G>A	ENST00000449924.2	-	12	1245	c.1057C>T	c.(1057-1059)Cat>Tat	p.H353Y	RBFOX2_ENST00000397303.2_Missense_Mutation_p.H330Y|RBFOX2_ENST00000438146.2_Missense_Mutation_p.H424Y|RBFOX2_ENST00000405409.2_Silent_p.T336T|RBFOX2_ENST00000414461.2_Silent_p.T339T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.H349Y|RBFOX2_ENST00000262829.7_Missense_Mutation_p.H331Y|RBFOX2_ENST00000359369.4_Silent_p.T339T			O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	363	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GCAAGGGCATGGTAGGGGTCG	0.408000													87	226					0	0	0.000781405	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122478140	122478140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122478140G>A	ENST00000383659.1	-	4	622	c.500C>T	c.(499-501)tCc>tTc	p.S167F	HSPBAP1_ENST00000306103.2_Missense_Mutation_p.S167F|HSPBAP1_ENST00000465044.1_5'UTR			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	167	Interaction with HSPB1 (By similarity).|JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GGCTCCCAAGGAGCCAATCCA	0.448000													18	38					0	0	0.00121646	0	0
AFF3	3899	broad.mit.edu	37	2	100210149	100210149	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:100210149G>A	ENST00000317233.4	-	14	2209	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	AFF3_ENST00000356421.2_Silent_p.I683I|AFF3_ENST00000409236.1_Silent_p.I658I|AFF3_ENST00000409579.1_Silent_p.I683I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	658					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATTTGGGGACGATCCTGCTTA	0.612000													19	55					0	0	0.00229938	0	0
OR5V1	81696	broad.mit.edu	37	6	29323773	29323773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29323773G>A	ENST00000377154.1	-	4	499	c.200C>T	c.(199-201)gCc>gTc	p.A67V	OR5V1_ENST00000543825.1_Missense_Mutation_p.A67V			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCAATAAAGGCCAAGTTCCC	0.408000													47	189					0	0	0.000781405	0	0
PKHD1	5314	broad.mit.edu	37	6	51890234	51890234	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:51890234G>A	ENST00000371117.3	-	32	4649	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	PKHD1_ENST00000340994.4_Silent_p.S1458S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1458	IPT/TIG 9.				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)					TGACGTTCAGGGAGAAGGAAG	0.522000													16	28					0	0	0.000308642	0	0
NLRP8	126205	broad.mit.edu	37	19	56466865	56466865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56466865C>T	ENST00000291971.3	+	3	1512	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.Q481*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	481	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAAGCTGGATCAGACGGGAGT	0.493000													29	89					0	0	0.00127121	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645595	7645595	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:7645595G>A	ENST00000340209.4	+	5	825	c.528G>A	c.(526-528)agG>agA	p.R176R	RBFOX1_ENST00000311745.5_Silent_p.R191R|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Silent_p.R171R|RBFOX1_ENST00000436368.2_Silent_p.R191R|RBFOX1_ENST00000422070.4_Silent_p.R214R|RBFOX1_ENST00000355637.4_Silent_p.R191R|RBFOX1_ENST00000552089.1_Silent_p.R188R|RBFOX1_ENST00000547338.1_Silent_p.R171R|RBFOX1_ENST00000550418.1_Silent_p.R171R|RBFOX1_ENST00000547372.1_Silent_p.R214R			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	171	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATGCGGACAGGGCGAGGGAGA	0.428000													24	88					0	0	0.00127121	0	0
TRPM6	140803	broad.mit.edu	37	9	77339584	77339584	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:77339584T>A	ENST00000451710.3	-	38	6263	c.6026A>T	c.(6025-6027)gAg>gTg	p.E2009V	TRPM6_ENST00000376871.3_Missense_Mutation_p.E842V|TRPM6_ENST00000361255.3_Missense_Mutation_p.E2000V|TRPM6_ENST00000360774.1_Missense_Mutation_p.E2005V|TRPM6_ENST00000449912.2_Missense_Mutation_p.E2000V|TRPM6_ENST00000376872.3_Missense_Mutation_p.E960V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	2005					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCTGGAGGCTCCTCAGCTGA	0.438000													49	62					0	0	0.000781405	0	0
GPR149	344758	broad.mit.edu	37	3	154146580	154146580	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:154146580G>A	ENST00000389740.2	-	1	924	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	275						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACCCGGTCCGAACACGGTGT	0.677000													11	21					0	0	0.000673444	0	0
COL21A1	81578	broad.mit.edu	37	6	56029616	56029616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:56029616C>T	ENST00000244728.5	-	8	1680	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	COL21A1_ENST00000370819.1_Intron|COL21A1_ENST00000535941.1_Intron	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	428					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)			GCCTACCTCTCCATTCTGAAA	0.299000													8	20					0	0	0.000442599	0	0
RBPJ	3516	broad.mit.edu	37	4	26417130	26417130	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:26417130G>T	ENST00000342320.4	+	4	362	c.186G>T	c.(184-186)atG>atT	p.M62I	RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Missense_Mutation_p.M76I|RBPJ_ENST00000345843.3_Missense_Mutation_p.M61I|RBPJ_ENST00000507561.1_Missense_Mutation_p.M41I|RBPJ_ENST00000504907.1_Missense_Mutation_p.M62I|RBPJ_ENST00000361572.6_Missense_Mutation_p.M76I|RBPJ_ENST00000348160.4_Missense_Mutation_p.M63I|RBPJ_ENST00000355476.3_Missense_Mutation_p.M62I			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	76					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATATCTTATGGGCAGTGGAT	0.363000													6	106					0.00116845	0.0045107	0.00116845	1	0
ZFHX4	79776	broad.mit.edu	37	8	77761885	77761885	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:77761885C>T	ENST00000521891.2	+	8	4231	c.3783C>T	c.(3781-3783)ctC>ctT	p.L1261L	ZFHX4_ENST00000050961.6_Silent_p.L1216L|ZFHX4_ENST00000455469.2_Silent_p.L1216L|ZFHX4_ENST00000518282.1_Silent_p.L1235L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATGCATCTCCAACTGCATC	0.483000										HNSCC(33;0.089)			8	35					0	0	0.000274275	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807634	128807634	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128807634C>T	ENST00000289407.4	+	8	880	c.771C>T	c.(769-771)tcC>tcT	p.S257S		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	257						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTCTGCTGTCCCAGATCCTAG	0.542000													6	16					0	0	0.00116845	0	0
PDE1A	5136	broad.mit.edu	37	2	183104855	183104855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:183104855G>A	ENST00000435564.1	-	3	580	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PDE1A_ENST00000536095.1_Missense_Mutation_p.A23V|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.A93V|PDE1A_ENST00000358139.2_Missense_Mutation_p.A127V|PDE1A_ENST00000331935.6_Missense_Mutation_p.A127V|PDE1A_ENST00000351439.5_Missense_Mutation_p.A111V|PDE1A_ENST00000410103.1_Missense_Mutation_p.A127V|PDE1A_ENST00000409365.1_Missense_Mutation_p.A111V|PDE1A_ENST00000456212.1_Missense_Mutation_p.A127V	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	127					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAAATTCCAGCTTGAACAGC	0.403000													31	93					0	0	0.00058488	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685373	19685373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:19685373G>A	ENST00000284885.3	-	18	2087	c.2054C>T	c.(2053-2055)aCg>aTg	p.T685M		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	685	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTGTTGTTCGTtgtgccatt	0.443000													28	59					0	0	0.00209593	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113604	55113604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:55113604C>T	ENST00000370862.3	+	2	727	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	131					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGTGATTCCTTATCTACA	0.428000													50	127					0	0	0.000781405	0	0
CD163L1	283316	broad.mit.edu	37	12	7550860	7550860	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7550860C>T	ENST00000313599.3	-	7	1786	c.1729_splice	c.e7+1	p.G577_splice	CD163L1_ENST00000416109.2_Splice_Site_p.G587_splice|CD163L1_ENST00000396630.1_Splice_Site_p.G577_splice			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	577						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAAGTCTTACCTGAGCAGGTT	0.393000													15	32					0	0	0.000308642	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739113	15739113	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15739113G>A	ENST00000441682.2	+	0	1178							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTTCCTTAGGGACGACCTGGC	0.602000													28	66					0	0	0.00283554	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874726	144874726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:144874726C>A	ENST00000369359.4	-	33	5328	c.5290G>T	c.(5290-5292)Gag>Tag	p.E1764*	PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E1584*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.E1628*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.E1628*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E1764*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1628					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.E1628*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTGTGTACTCGCTGACTATG	0.527000			T	PDGFRB	MPD								12	382					0.000308642	0.00119591	0.000308642	1	0
CSPG4	1464	broad.mit.edu	37	15	75981934	75981934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:75981934C>T	ENST00000308508.5	-	3	1564	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	491	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAACATTTTTCGTGCCTGGGC	0.637000													50	22					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13776628	13776628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13776628C>T	ENST00000265104.4	-	55	9397	c.9293G>A	c.(9292-9294)aGa>aAa	p.R3098K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3098	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCAAAGCTCTGTTTCGAAA	0.468000									Kartagener syndrome				31	71					0	0	0.00178596	0	0
PTPRF	5792	broad.mit.edu	37	1	44069127	44069127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:44069127C>T	ENST00000359947.4	+	15	2721	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	PTPRF_ENST00000372414.3_Missense_Mutation_p.S794F|PTPRF_ENST00000372413.3_Missense_Mutation_p.S785F|PTPRF_ENST00000422171.2_Missense_Mutation_p.S142F|PTPRF_ENST00000438120.1_Missense_Mutation_p.S785F|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	794	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCACCTACTCCGTTACTGTT	0.582000													34	37					0	0	0.000692331	0	0
PHYKPL	85007	broad.mit.edu	37	5	177651732	177651732	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:177651732T>A	ENST00000308158.5	-	5	648		c.e5-2		PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		TGATACGCACTGGGGAGGAGA	0.622000													7	20					0	0	0.00198382	0	0
LPIN2	9663	broad.mit.edu	37	18	2951204	2951204	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:2951204A>G	ENST00000261596.4	-	4	677	c.439T>C	c.(439-441)Ttt>Ctt	p.F147L	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	147					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTTGGAGTAAAAATTGTCTCT	0.423000													18	59					0	0	0.00229938	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626810	43626810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43626810G>A	ENST00000332857.6	-	4	1905	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGTCCCTGGTGATTCGTCCCG	0.537000													14	43					0	0	0.000958276	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259468	32259468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:32259468G>A	ENST00000360482.2	-	12	2543	c.2414C>T	c.(2413-2415)tCc>tTc	p.S805F	SPOCD1_ENST00000533231.1_Missense_Mutation_p.S805F|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S298F|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	805					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCTTCGAAGGAGCCTAGCAG	0.572000													62	98					0	0	0.000781405	0	0
PTPRT	11122	broad.mit.edu	37	20	41420048	41420048	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:41420048G>A	ENST00000373198.3	-	3	508	c.273C>T	c.(271-273)ctC>ctT	p.L91L	PTPRT_ENST00000356100.2_Silent_p.L91L|PTPRT_ENST00000373187.1_Silent_p.L91L|PTPRT_ENST00000373184.1_Silent_p.L91L|PTPRT_ENST00000373190.1_Silent_p.L91L|PTPRT_ENST00000373193.3_Silent_p.L91L|PTPRT_ENST00000373201.1_Silent_p.L91L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	91	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTTGGCAGGAGAAGGTGGG	0.547000													7	12					0	0	0.000157383	0	0
NOMO2	283820	broad.mit.edu	37	16	18532158	18532158	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:18532158G>A	ENST00000330537.6	-	19	2372	c.2202C>T	c.(2200-2202)acC>acT	p.T734T	NOMO2_ENST00000543392.1_Silent_p.T567T|NOMO2_ENST00000381474.3_Silent_p.T734T	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	734						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CGGGAGGCTTGGTCATTCTTT	0.557000													39	212					0	0	0.000781405	0	0
ELF4	2000	broad.mit.edu	37	X	129201362	129201362	+	Silent	SNP	G	G	A	rs139671354	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:129201362G>A	ENST00000308167.5	-	9	1705	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	ELF4_ENST00000335997.7_Silent_p.L442L	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	442					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCTGGAGAACGAGCTGAGTGG	0.617000			T	ERG	AML								31	8					0	0	0.00283554	0	0
OR10J1	26476	broad.mit.edu	37	1	159410280	159410280	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159410280G>A	ENST00000423932.3	+	1	769	c.732G>A	c.(730-732)cgG>cgA	p.R244R	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	244					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTGAGGGCCGGAAGAAGGCTT	0.478000													24	49					0	0	0.000586117	0	0
RFX6	222546	broad.mit.edu	37	6	117252646	117252646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:117252646G>A	ENST00000332958.2	+	19	2780	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	922					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTGTTCATGGGAACAGCAGC	0.438000													13	23					0	0	0.00185496	0	0
XRN2	22803	broad.mit.edu	37	20	21328863	21328863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:21328863C>T	ENST00000377191.3	+	18	1840	c.1745C>T	c.(1744-1746)cCa>cTa	p.P582L	XRN2_ENST00000539513.1_Missense_Mutation_p.P528L|XRN2_ENST00000430571.2_Missense_Mutation_p.P506L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	582				P -> S (in Ref. 1; AAQ13577).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GCAGACATGCCATCTGATTTT	0.348000													32	63					0	0	0.00283554	0	0
PRSS35	167681	broad.mit.edu	37	6	84234178	84234178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84234178G>A	ENST00000536636.1	+	3	1363	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	PRSS35_ENST00000369700.3_Missense_Mutation_p.D340N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	340	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCAATACTGCGATGCTGAGTC	0.488000													23	71					0	0	0.000878237	0	0
GATA3	2625	broad.mit.edu	37	10	8115931	8115931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:8115931C>T	ENST00000379328.3	+	6	1848	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	GATA3_ENST00000346208.3_Missense_Mutation_p.S426F|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	426					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.S428fs*>18(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CACCCGCCATCCAGCCTGTCC	0.662000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						24	57					0	0	0.00209593	0	0
F10	2159	broad.mit.edu	37	13	113803237	113803237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113803237G>A	ENST00000375551.3	+	8	905	c.863G>A	c.(862-864)gGa>gAa	p.G288E	F10_ENST00000375559.3_Silent_p.R291R|F10_ENST00000409306.1_Missense_Mutation_p.G290E			P00742	FA10_HUMAN	coagulation factor X	0	Peptidase S1.			KVRV -> E (in Ref. 6; AAA51984 and 8; AAA52486).	blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGGGACCGGAACACGGAGC	0.542000													37	90					0	0	0.00148497	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361450	70361450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:70361450C>T	ENST00000305107.6	-	1	176	c.130G>A	c.(130-132)Gat>Aat	p.D44N	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D44N	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	44					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACAAGTTCATCCAGGATTGTC	0.448000													54	110					0	0	0.000781405	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799762	133799762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:133799762G>A	ENST00000372338.4	-	3	816	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	FIBCD1_ENST00000253018.4_Missense_Mutation_p.H34Y|FIBCD1_ENST00000372337.2_Missense_Mutation_p.H34Y|FIBCD1_ENST00000448616.1_Missense_Mutation_p.H192Y	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	192					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGAGCCATGTGGCCCTGGCTC	0.682000													10	14					0	0	0.000673444	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031955	193031955	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:193031955A>G	ENST00000342358.4	-	19	2303	c.2186T>C	c.(2185-2187)gTt>gCt	p.V729A	ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	729					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTCTTTGCAACAGTAATGGC	0.463000													18	73					0	0	0.000958276	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805292	75805292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75805292C>T	ENST00000370855.5	-	4	189	c.76G>A	c.(76-78)Gat>Aat	p.D26N	SLC44A5_ENST00000370859.3_Missense_Mutation_p.D26N|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	26						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCTTGAAATCTGGGTCATAT	0.348000													226	242					0	0	0.000781405	0	0
CKAP2	26586	broad.mit.edu	37	13	53049131	53049131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:53049131C>T	ENST00000378037.5	+	9	1997	c.1907C>T	c.(1906-1908)tCt>tTt	p.S636F	CKAP2_ENST00000258607.5_Missense_Mutation_p.S635F|CKAP2_ENST00000490903.1_Missense_Mutation_p.S587F	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	636					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GAGAAAACTTCTAAATTGCCA	0.393000													24	42					0	0	0.000720815	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956469	96956469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:96956469G>A	ENST00000323853.5	-	19	2583	c.2506C>T	c.(2506-2508)Cca>Tca	p.P836S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	836	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCCTTCTCTGGACTGTACACC	0.488000													37	70					0	0	0.00111076	0	0
SYT9	143425	broad.mit.edu	37	11	7324274	7324274	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:7324274C>G	ENST00000318881.6	+	2	387	c.150C>G	c.(148-150)atC>atG	p.I50M	SYT9_ENST00000396716.2_Missense_Mutation_p.I18M	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	50						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.I50I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTGCAGATATCTCAGTGAGCC	0.542000													19	59					0	0	0.00121646	0	0
MYF6	4618	broad.mit.edu	37	12	81101550	81101550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:81101550G>A	ENST00000228641.3	+	1	274	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	18					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTTGGATGGGGAAAATGTTAC	0.502000													20	63					0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179600576	179600576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179600576G>A	ENST00000589042.1	-	50	14821	c.14597C>T	c.(14596-14598)tCt>tTt	p.S4866F	TTN_ENST00000591111.1_Missense_Mutation_p.S4549F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3622F|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4549	Ig-like 29.						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)			AGCCTTACAAGAATAAACTCC	0.418000													19	50					0	0	0.00121646	0	0
FAT4	79633	broad.mit.edu	37	4	126412600	126412600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126412600G>A	ENST00000394329.3	+	17	14636	c.14623G>A	c.(14623-14625)Gaa>Aaa	p.E4875K	FAT4_ENST00000335110.5_Missense_Mutation_p.E3116K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4875					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAAGTCAATGAATCTGATGC	0.483000													20	38					0	0	0.00152264	0	0
OR12D3	81797	broad.mit.edu	37	6	29342447	29342447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29342447C>T	ENST00000396806.3	-	1	621	c.618G>A	c.(616-618)atG>atA	p.M206I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AGAAAGCTCCCATGGATATGC	0.443000													16	59					0	0	0.00074312	0	0
ADAM8	101	broad.mit.edu	37	10	135085413	135085413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:135085413C>T	ENST00000445355.3	-	11	1053	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	ADAM8_ENST00000485491.2_Missense_Mutation_p.E296K|ADAM8_ENST00000415217.3_Missense_Mutation_p.E335K	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	296					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGGCCCATCTCATGGGCCATG	0.647000													21	23					0	0	0.00229938	0	0
ZNF831	128611	broad.mit.edu	37	20	57782012	57782012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:57782012C>T	ENST00000371030.2	+	3	3928	c.3928C>T	c.(3928-3930)Cgc>Tgc	p.R1310C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1310						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)					CAGTAGACTTCGCACACCAAC	0.547000													39	85					0	0	0.00128727	0	0
CPA6	57094	broad.mit.edu	37	8	68423836	68423836	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:68423836G>A	ENST00000297770.4	-	4	587	c.372C>T	c.(370-372)acC>acT	p.T124T	CPA6_ENST00000518549.1_Silent_p.T124T|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	124					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGTTTCTCTGGGTGTGCAAGC	0.378000													64	184					0	0	0.000781405	0	0
ROBO4	54538	broad.mit.edu	37	11	124757690	124757690	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:124757690G>A	ENST00000306534.3	-	13	2480	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	ROBO4_ENST00000533054.1_Silent_p.S520S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	665					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGAGCTCCAAGGAGTGGCTGC	0.577000													13	18					0	0	0.000422831	0	0
PBX4	80714	broad.mit.edu	37	19	19675743	19675743	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:19675743G>A	ENST00000251203.8	-	6	1210	c.925_splice	c.e6+1	p.S308_splice		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	308							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CTCACTCACCGGAGCTAGGTG	0.597000													38	95					0	0	0.00111076	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862543	25862543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:25862543G>A	ENST00000397060.4	-	3	330	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74F|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S74F	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	74					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATTGAGCTGGGATTGAGGGCT	0.448000													21	76					0	0	0.00152264	0	0
CDON	50937	broad.mit.edu	37	11	125889518	125889518	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:125889518G>A	ENST00000392693.3	-	4	619	c.492C>T	c.(490-492)tcC>tcT	p.S164S	CDON_ENST00000263577.7_Silent_p.S164S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	164	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTCACCTGTGGAATGTTCCA	0.473000													57	76					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9067129	9067129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9067129G>A	ENST00000397910.4	-	3	20520	c.20317C>T	c.(20317-20319)Cca>Tca	p.P6773S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6775	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						TCTGAGTGTGGAAATTCCTGA	0.488000													48	160					0	0	0.000781405	0	0
ACE	1636	broad.mit.edu	37	17	61557233	61557233	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:61557233G>A	ENST00000290866.4	+	4	639	c.615G>A	c.(613-615)gaG>gaA	p.E205E	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.E205E|ACE_ENST00000428043.1_Silent_p.E205E	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	205	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCTGTACGAGGATTTCACTG	0.612000													7	22					0	0	0.00198382	0	0
DAPK2	23604	broad.mit.edu	37	15	64275775	64275775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:64275775C>T	ENST00000261891.3	-	2	276	c.271G>A	c.(271-273)Gac>Aac	p.D91N	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.D91N|DAPK2_ENST00000558069.1_Missense_Mutation_p.D91N			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	91	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCATAGACGTCGTGCAGCGTG	0.672000													41	21					0	0	0.000781405	0	0
KRT73	319101	broad.mit.edu	37	12	53010096	53010096	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53010096C>T	ENST00000305748.3	-	2	550	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	172	Linker 1.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCAGTTGTTCAGGTCCAGCT	0.572000													26	76					0	0	0.00209593	0	0
ECE1	1889	broad.mit.edu	37	1	21546555	21546555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:21546555G>A	ENST00000415912.2	-	19	2283	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	ECE1_ENST00000374893.6_Missense_Mutation_p.R736C|ECE1_ENST00000357071.4_Missense_Mutation_p.R724C|ECE1_ENST00000264205.6_Missense_Mutation_p.R733C|ECE1_ENST00000436918.2_Missense_Mutation_p.R704C	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	736					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACCCGGAAGCGAGAGGGGCTG	0.617000													15	17					0	0	0.000308642	0	0
OR52A5	390054	broad.mit.edu	37	11	5153745	5153745	+	Missense_Mutation	SNP	C	C	T	rs145415920		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5153745C>T	ENST00000307388.1	-	1	127	c.128G>A	c.(127-129)gGa>gAa	p.G43E		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGGGAATTTCCAATCACACC	0.403000													11	35					0	0	0.000978159	0	0
PRB3	5544	broad.mit.edu	37	12	11420975	11420975	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:11420975C>T	ENST00000381842.3	-	0	245				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGTGGGGGACCTTGGGACTGG	0.622000													37	119					0	0	0.00170553	0	0
ZNF679	168417	broad.mit.edu	37	7	63726909	63726909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:63726909G>A	ENST00000421025.1	+	5	1167	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	ZNF679_ENST00000255746.4_Missense_Mutation_p.E300K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CACATGTGAAGAATGTGGCAA	0.443000													13	30					0	0	0.000308642	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430983	37430983	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37430983G>A	ENST00000374660.1	+	7	1089	c.990G>A	c.(988-990)gaG>gaA	p.E330E	ANKRD30A_ENST00000361713.1_Silent_p.E330E|ANKRD30A_ENST00000602533.1_Silent_p.E330E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	386						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCGCATGGGAGAAAAAAGAAG	0.443000													34	81					0	0	0.00111076	0	0
KCNA1	3736	broad.mit.edu	37	12	5021546	5021546	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5021546C>T	ENST00000382545.3	+	2	2109	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	334					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTTCCTCTTCATCGGGGTCA	0.547000													21	63					0	0	0.00121646	0	0
DDX60	55601	broad.mit.edu	37	4	169195106	169195106	+	Silent	SNP	G	G	A	rs138638907		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:169195106G>A	ENST00000393743.3	-	17	2724	c.2433C>T	c.(2431-2433)gtC>gtT	p.V811V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	811	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.V811V(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAACGTACACGACCACCCCGT	0.453000													32	57					0	0	0.00111076	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814871	174814871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:174814871G>A	ENST00000454872.1	+	2	463	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	112					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATTATACACGATCTGCACCA	0.378000													41	85					0	0	0.00148497	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879240	209879240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:209879240G>A	ENST00000367028.2	+	3	342	c.173G>A	c.(172-174)gGa>gAa	p.G58E	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.G58E|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G58E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	58					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GCGAAGATGGGAGCCCATGTG	0.502000													10	62					0	0	0.000442599	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734231	28734231	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:28734231C>T	ENST00000550043.1	+	0	636																											GGCATATTCTCTGCAGAATTT	0.498000													9	8					0	0	0.000673444	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818296	200818296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:200818296C>T	ENST00000358823.2	+	11	2669	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P811L|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P784L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	811						cytoplasm|microtubule	protein binding										GGGATATCTCCTCTACGAGAG	0.418000													34	61					0	0	0.00285205	0	0
CUZD1	50624	broad.mit.edu	37	10	124591942	124591942	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124591942T>C	ENST00000368904.1	-	11	2625	c.1676A>G	c.(1675-1677)gAa>gGa	p.E559G	CUZD1_ENST00000392790.1_Missense_Mutation_p.E559G|CUZD1_ENST00000545804.1_Missense_Mutation_p.E559G			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	559					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGGAGTTTCTTCCGCATGTGT	0.368000													24	35					0	0	0.00127121	0	0
CHRM4	1132	broad.mit.edu	37	11	46407940	46407940	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:46407940G>A	ENST00000433765.2	-	1	167	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	56					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TGACCTTGATGGACAGCATCA	0.537000													14	15					0	0	0.00185496	0	0
CELF4	56853	broad.mit.edu	37	18	34853055	34853055	+	Silent	SNP	G	G	A	rs150488058	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:34853055G>A	ENST00000420428.2	-	7	1268	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CELF4_ENST00000334919.5_Silent_p.F281F|CELF4_ENST00000412753.1_Silent_p.F290F|CELF4_ENST00000588597.1_Silent_p.F280F|CELF4_ENST00000591282.1_Silent_p.F291F|CELF4_ENST00000361795.5_Silent_p.F289F|CELF4_ENST00000591287.1_Silent_p.F290F|CELF4_ENST00000601019.1_Silent_p.F289F|CELF4_ENST00000603232.1_Silent_p.F290F	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	291	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGGCGGCAGCGAAGGCAGCCA	0.632000													16	34					0	0	0.000566183	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684184	75684184	+	Missense_Mutation	SNP	C	C	T	rs143004355	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75684184C>T	ENST00000370855.5	-	17	1633	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	SLC44A5_ENST00000370859.3_Missense_Mutation_p.R507Q|SLC44A5_ENST00000535611.1_Missense_Mutation_p.R377Q	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	507						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCGTATGGCTCGTCCAAATGC	0.433000													96	70					0	0	0.000781405	0	0
HHAT	55733	broad.mit.edu	37	1	210637944	210637944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:210637944C>T	ENST00000367010.1	+	8	1179	c.952C>T	c.(952-954)Cca>Tca	p.P318S	HHAT_ENST00000413764.2_Missense_Mutation_p.P318S|HHAT_ENST00000545781.1_Missense_Mutation_p.P255S|HHAT_ENST00000367009.1_Missense_Mutation_p.P8S|HHAT_ENST00000391905.3_Missense_Mutation_p.P318S|HHAT_ENST00000308852.6_Missense_Mutation_p.P273S|HHAT_ENST00000545154.1_Missense_Mutation_p.P319S|HHAT_ENST00000541565.1_Missense_Mutation_p.P181S|HHAT_ENST00000261458.3_Missense_Mutation_p.P318S|HHAT_ENST00000537898.1_Missense_Mutation_p.P253S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	318					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)		TGGACTCACTCCACCCGCCCT	0.587000													28	44					0	0	0.000878237	0	0
ENAM	10117	broad.mit.edu	37	4	71508463	71508463	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71508463C>T	ENST00000396073.3	+	9	1601	c.1320C>T	c.(1318-1320)ccC>ccT	p.P440P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	440					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGAGAAGCCCCTGGGTCCAA	0.428000													11	37					0	0	0.00136819	0	0
CRAT	1384	broad.mit.edu	37	9	131870246	131870246	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131870246G>A	ENST00000318080.2	-	2	432	c.138C>T	c.(136-138)tcC>tcT	p.S46S	CRAT_ENST00000464290.1_5'UTR|CRAT_ENST00000393384.3_Silent_p.S46S	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	46					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGTGGTCCAGGGACTGCTGGA	0.622000													9	62					0	0	0.000442599	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802381	185802381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:185802381C>T	ENST00000302277.6	+	4	2852	c.2258C>T	c.(2257-2259)gCt>gTt	p.A753V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	753						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						CAGAATCAGGCTGTTAAAAGA	0.333000													21	56					0	0	0.00152264	0	0
TEKT1	83659	broad.mit.edu	37	17	6722553	6722553	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:6722553C>T	ENST00000338694.2	-	3	444	c.315G>A	c.(313-315)ttG>ttA	p.L105L	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	105					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AGGGCTCTTTCAAGGTCTCCA	0.438000													33	35					0	0	0.000814825	0	0
KIF26B	55083	broad.mit.edu	37	1	245848730	245848730	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:245848730G>A	ENST00000366518.4	+	9	1406	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	KIF26B_ENST00000407071.2_Silent_p.G815G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	815					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGTCCGGCGGGGAGAGCTCCT	0.647000													4	8					0	0	0.00024832	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149631	70149631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:70149631C>T	ENST00000374299.3	-	2	361	c.217G>A	c.(217-219)Gct>Act	p.A73T	SLC7A3_ENST00000298085.4_Missense_Mutation_p.A73T			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	73					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACAGGGCAGCCACCAAAAAG	0.572000													10	1					0	0	0.000442599	0	0
ZNF208	7757	broad.mit.edu	37	19	22156338	22156338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22156338C>T	ENST00000397126.4	-	4	1646	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.378000													25	54					0	0	0.000878237	0	0
FSIP2	401024	broad.mit.edu	37	2	186671695	186671695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:186671695G>A	ENST00000343098.5	+	17	17929	c.17929G>A	c.(17929-17931)Gat>Aat	p.D5977N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5888N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATCTGCAGATAAAATGCC	0.383000													18	46					0	0	0.000958276	0	0
SVEP1	79987	broad.mit.edu	37	9	113251984	113251984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:113251984C>T	ENST00000401783.2	-	9	2212	c.1876G>A	c.(1876-1878)Gca>Aca	p.A626T	SVEP1_ENST00000374469.1_Missense_Mutation_p.A603T|SVEP1_ENST00000374461.1_Missense_Mutation_p.A603T|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.A626T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	626	HYR 1.				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						AGGTCAGTTGCCGTGTATACG	0.438000													21	55					0	0	0.00152264	0	0
PHLDB2	90102	broad.mit.edu	37	3	111638006	111638006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111638006G>A	ENST00000431670.2	+	4	2218	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	PHLDB2_ENST00000495180.1_Missense_Mutation_p.E189K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E603K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E630K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E603K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E603K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	603						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CAACCTCGAGGAACTTAAGCA	0.408000													41	68					0	0	0.000781405	0	0
SLC27A2	11001	broad.mit.edu	37	15	50528281	50528281	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:50528281C>T	ENST00000267842.5	+	10	2083	c.1851C>T	c.(1849-1851)acC>acT	p.T617T	SLC27A2_ENST00000544960.1_Silent_p.T382T|SLC27A2_ENST00000380902.4_Silent_p.T564T	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	617					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GTGCTAAAACCCTGAAACTCT	0.378000													22	26					0	0	0.00106085	0	0
FECH	2235	broad.mit.edu	37	18	55221578	55221578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:55221578G>A	ENST00000262093.5	-	9	1142	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	FECH_ENST00000382873.3_Missense_Mutation_p.L337F	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	331					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GGAACCAAGAGGATATTCTTC	0.463000													40	107					0	0	0.00128727	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395173	109395173	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:109395173C>T	ENST00000370001.3	-	2	382	c.114G>A	c.(112-114)aaG>aaA	p.K38K	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Silent_p.K38K|AKNAD1_ENST00000369995.3_Silent_p.K38K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	38										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CAAGGCCATCCTTTTTTGAGG	0.388000													56	77					0	0	0.000781405	0	0
LINC00174	285908	broad.mit.edu	37	7	65842257	65842257	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:65842257G>A	ENST00000421767.1	-	0	3475					NR_026873.1																						TGAACGCAGGGAAGCCTGGGG	0.726000													5	3					0	0	0.000602214	0	0
HNF4G	3174	broad.mit.edu	37	8	76456138	76456138	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:76456138T>C	ENST00000396423.2	+	2	305	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	HNF4G_ENST00000354370.1_Missense_Mutation_p.Y24H	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	24					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGAAAACACTATGGGGCATC	0.468000													11	39					0	0	0.000978159	0	0
OR2C3	81472	broad.mit.edu	37	1	247695664	247695664	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:247695664G>A	ENST00000366487.3	-	2	511	c.150C>T	c.(148-150)tcC>tcT	p.S50S	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CATCTGTATGGGAGACCAGAA	0.493000													23	40					0	0	0.000586117	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:10916422G>A	ENST00000298232.7	-	19	1537	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Silent_p.L370L|TPTE_ENST00000361285.4_Silent_p.L408L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCTTGGAGGGAGATTCCAGT	0.363000													10	137					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179604438	179604438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179604438C>T	ENST00000589042.1	-	48	13746	c.13522G>A	c.(13522-13524)Gat>Aat	p.D4508N	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4191N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.D4270N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D4145N|TTN_ENST00000342175.6_Missense_Mutation_p.D4337N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4191	Ig-like 25.						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)			GAAAAAGAATCCATTTCTTCT	0.383000													71	154					0	0	0.000781405	0	0
DARC	2532	broad.mit.edu	37	1	159176211	159176211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159176211C>T	ENST00000537147.1	+	3	1825	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	DARC_ENST00000368121.2_Missense_Mutation_p.H330Y|DARC_ENST00000368122.2_Missense_Mutation_p.H328Y			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	328					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATGGTCTTCTCATCTGGACAC	0.537000													73	186					0	0	0.000781405	0	0
FMNL2	114793	broad.mit.edu	37	2	153482056	153482056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:153482056G>A	ENST00000288670.9	+	16	2309	c.1942G>A	c.(1942-1944)Gat>Aat	p.D648N	FMNL2_ENST00000475377.2_Missense_Mutation_p.D23N|FMNL2_ENST00000497192.1_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	648	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAATGAAATTGATGATGAGCG	0.433000													12	50					0	0	0.00185496	0	0
SALL1	6299	broad.mit.edu	37	16	51173577	51173577	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:51173577G>A	ENST00000440970.1	-	2	2696	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	SALL1_ENST00000251020.4_Silent_p.S852S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	852					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGGCGAAGAGGATAAGCTGT	0.517000													10	65					0	0	0.000442599	0	0
USP44	84101	broad.mit.edu	37	12	95927181	95927181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:95927181C>T	ENST00000258499.3	-	2	1140	c.852G>A	c.(850-852)atG>atA	p.M284I	USP44_ENST00000552440.1_Missense_Mutation_p.M284I|USP44_ENST00000537435.2_Missense_Mutation_p.M284I|USP44_ENST00000393091.2_Missense_Mutation_p.M284I	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	284					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAACAGAATTCATATAGCAAG	0.368000													18	62					0	0	0.000566183	0	0
PARP9	83666	broad.mit.edu	37	3	122269585	122269585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122269585G>A	ENST00000462315.1	-	6	1465	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	PARP9_ENST00000471785.1_Missense_Mutation_p.S391F|PARP9_ENST00000477522.2_Missense_Mutation_p.S391F|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.S426F	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	426	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GGCAGGAAAGGAAATGGAAGT	0.348000													17	32					0	0	0.000566183	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968026	102968026	+	Missense_Mutation	SNP	G	G	A	rs150294315		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:102968026G>A	ENST00000233954.1	+	11	1587	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	439	TIR.				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						ACCAACATACGAAAGAGCAGG	0.438000													17	23					0	0	0.000958276	0	0
AC015849.16	0	broad.mit.edu	37	17	34236138	34236138	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:34236138C>T	ENST00000587132.1	-	0	1889																											CTCTGGAGGCCGAGTTGGGGT	0.478000													6	20					0	0	0.000157383	0	0
PRKDC	5591	broad.mit.edu	37	8	48751729	48751729	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:48751729G>A	ENST00000314191.2	-	57	7586	c.7530C>T	c.(7528-7530)atC>atT	p.I2510I	PRKDC_ENST00000338368.3_Silent_p.I2510I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2511	KIP-binding.				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)				GGTTCTCATCGATCAATCCTT	0.388000								Non-homologous end-joining					16	27					0	0	0.00152264	0	0
COPS5	10987	broad.mit.edu	37	8	67968840	67968840	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:67968840C>T	ENST00000517736.1	-	5	943		c.e5-1		COPS5_ENST00000357849.4_Splice_Site			Q92905	CSN5_HUMAN	COP9 signalosome subunit 5						cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GTTTGTAGCCCTAAACAAAAA	0.224000													15	37					0	0	0.000422831	0	0
FAM107A	11170	broad.mit.edu	37	3	58552888	58552888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:58552888G>A	ENST00000464064.1	-	3	458	c.374C>T	c.(373-375)tCc>tTc	p.S125F	FAM107A_ENST00000447756.2_Intron|FAM107A_ENST00000394481.1_Intron|FAM107A_ENST00000360997.2_Intron|FAM107A_ENST00000474531.1_Intron			O95990	F107A_HUMAN	family with sequence similarity 107, member A	0					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTCCCTGGAGGACAGCCCTGG	0.622000													6	19					0	0	0.00198382	0	0
POM121	9883	broad.mit.edu	37	7	72413897	72413897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72413897C>T	ENST00000395270.1	+	14	3611	c.2570C>T	c.(2569-2571)aCc>aTc	p.T857I	POM121_ENST00000358357.3_Missense_Mutation_p.T857I|POM121_ENST00000434423.2_Missense_Mutation_p.T1122I|POM121_ENST00000446813.1_Missense_Mutation_p.T857I|POM121_ENST00000257622.4_Missense_Mutation_p.T857I	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCTCCAGCACCACCACCGGA	0.637000													8	10					0	0	0.000274275	0	0
NME1	4830	broad.mit.edu	37	17	49233063	49233063	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:49233063C>T	ENST00000511355.1	+	2	134	c.48C>T	c.(46-48)gtC>gtT	p.V16V	NME2_ENST00000393193.2_Silent_p.V16V|NME1_ENST00000013034.3_Silent_p.V41V|NME1_ENST00000336097.3_Silent_p.V41V|NME2_ENST00000376392.6_Silent_p.V16V|NME2_ENST00000555572.1_Silent_p.V41V|NME1_ENST00000393196.3_Silent_p.V16V|NME1_ENST00000480143.1_Silent_p.V41V					NME/NM23 nucleoside diphosphate kinase 1											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CAGATGGGGTCCAGCGGGGTC	0.488000													14	49					0	0	0.000308642	0	0
NEB	4703	broad.mit.edu	37	2	152499129	152499129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152499129G>A	ENST00000427231.2	-	60	8534	c.8332C>T	c.(8332-8334)Cct>Tct	p.P2778S	NEB_ENST00000409198.1_Missense_Mutation_p.P2778S|NEB_ENST00000603639.1_Missense_Mutation_p.P2778S|NEB_ENST00000604864.1_Missense_Mutation_p.P2778S|NEB_ENST00000172853.10_Missense_Mutation_p.P2778S|NEB_ENST00000397345.3_Missense_Mutation_p.P2778S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2778					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTTGATAGGAATGGCATCT	0.378000													17	50					0	0	0.00121646	0	0
OR52B4	143496	broad.mit.edu	37	11	4388923	4388923	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4388923C>T	ENST00000408920.2	-	1	693	c.603G>A	c.(601-603)ggG>ggA	p.G201G		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAATGGAAAACCCATACCAAA	0.378000													21	47					0	0	0.00152264	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84562512	84562512	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:84562512C>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							AAAAAACCATCTCTTGCATGA	0.483000													16	22					0	0	0.000566183	0	0
P2RY13	53829	broad.mit.edu	37	3	151046404	151046404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151046404C>T	ENST00000325602.5	-	2	459	c.440G>A	c.(439-441)aGa>aAa	p.R147K	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	147						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TCTCAAAGGTCTGATGATCTT	0.383000													8	30					0	0	0.000274275	0	0
SPEF2	79925	broad.mit.edu	37	5	35740274	35740274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35740274G>A	ENST00000440995.2	+	23	3220	c.3220G>A	c.(3220-3222)Gat>Aat	p.D1074N	SPEF2_ENST00000356031.3_Missense_Mutation_p.D1079N|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1079					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACAAGCAAGATTTTGTAGC	0.393000													25	59					0	0	0.000720815	0	0
PDK3	5165	broad.mit.edu	37	X	24523415	24523415	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:24523415G>A	ENST00000441463.2	+	5	595	c.595_splice	c.e5+1	p.D199_splice	PDK3_ENST00000379162.4_Splice_Site_p.D199_splice	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	199	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAAAGGTAAGGAGAC	0.458000													22	13					0	0	0.000586117	0	0
MGAM	8972	broad.mit.edu	37	7	141727450	141727450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141727450G>A	ENST00000475668.2	+	10	1190	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	MGAM_ENST00000549489.2_Missense_Mutation_p.G379E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	379	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGCGCTTGGATTTCACCTC	0.438000													12	48					0	0	0.000422831	0	0
ETS2	2114	broad.mit.edu	37	21	40191503	40191503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:40191503G>A	ENST00000360214.3	+	9	1348	c.888G>A	c.(886-888)tgG>tgA	p.W296*	ETS2_ENST00000360938.3_Nonsense_Mutation_p.W296*	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	296					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCCAGTCCTGGAACAGCCAGT	0.552000													10	16					0	0	0.000442599	0	0
LMO1	4004	broad.mit.edu	37	11	8248592	8248592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:8248592C>T	ENST00000335790.3	-	3	790	c.295G>A	c.(295-297)Gag>Aag	p.E99K	LMO1_ENST00000428101.2_Missense_Mutation_p.E98K|LMO1_ENST00000534484.1_Missense_Mutation_p.E88K	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	99	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ATCACCATCTCGAAGGCTGGG	0.617000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							5	23					0	0	0.000602214	0	0
CSF3R	1441	broad.mit.edu	37	1	36941239	36941239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:36941239G>A	ENST00000373103.1	-	4	647	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	CSF3R_ENST00000440588.2_Missense_Mutation_p.P34S|CSF3R_ENST00000373106.1_Missense_Mutation_p.P34S|CSF3R_ENST00000418048.2_Missense_Mutation_p.P34S|CSF3R_ENST00000331941.5_Missense_Mutation_p.P34S|CSF3R_ENST00000361632.4_Missense_Mutation_p.P34S|CSF3R_ENST00000373104.1_Missense_Mutation_p.P34S|CSF3R_ENST00000338937.5_Missense_Mutation_p.P34S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	34	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGACGATGGGGGCTGAGACA	0.602000													14	17					0	0	0.000958276	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451713	37451713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:37451713G>A	ENST00000374660.1	+	17	1870	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E591K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E591K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	647						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCCTGCCACTGAAATGCAAAA	0.303000													49	90					0	0	0.000781405	0	0
CD164L2	388611	broad.mit.edu	37	1	27706567	27706567	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27706567C>T	ENST00000374027.3	-	5	555	c.492G>A	c.(490-492)aaG>aaA	p.K164K	CD164L2_ENST00000374030.1_Silent_p.K164K	NM_207397.2	NP_997280.1	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	164						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGTCCTTGGCCTTGAGGAAGT	0.602000													52	60					0	0	0.000781405	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903710	20903710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:20903710G>A	ENST00000381552.1	+	14	2268	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D634N|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D634N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D585N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D516N			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	634					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CAGATTATATGATTCAAATGT	0.393000													18	43					0	0	0.000566183	0	0
VIPR2	7434	broad.mit.edu	37	7	158829505	158829505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:158829505G>A	ENST00000262178.2	-	7	871	c.686C>T	c.(685-687)aCc>aTc	p.T229I	VIPR2_ENST00000402066.1_Missense_Mutation_p.T370I|VIPR2_ENST00000377633.3_Missense_Mutation_p.T213I	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	229					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CACCAGGAGGGTGTGGAGGTA	0.612000													8	14					0	0	0.000157383	0	0
CD177	57126	broad.mit.edu	37	19	43858083	43858083	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43858083C>T	ENST00000378009.4	+	0	173				CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CAATGGACCCCTAAGAACACC	0.622000													24	34					0	0	0.00047179	0	0
CNR1	1268	broad.mit.edu	37	6	88854839	88854839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:88854839G>A	ENST00000537554.1	-	2	3717	c.155C>T	c.(154-156)tCc>tTc	p.S52F	CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369501.2_Missense_Mutation_p.S52F|CNR1_ENST00000549890.1_Missense_Mutation_p.S52F|CNR1_ENST00000535130.1_Missense_Mutation_p.S52F|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000428600.2_Missense_Mutation_p.S52F|CNR1_ENST00000369499.2_Missense_Mutation_p.S52F|CNR1_ENST00000362094.5_Intron	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	52					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCCCCTAAAGGAAGTTAAAGG	0.468000													11	33					0	0	0.000978159	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823739	38823739	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38823739C>T	ENST00000303592.3	-	2	657	c.399G>A	c.(397-399)acG>acA	p.T133T		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	133					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGCCGATGGTCGTCTGCGTCT	0.657000													20	60					0	0	0.000586117	0	0
KRT1	3848	broad.mit.edu	37	12	53069116	53069116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53069116G>A	ENST00000252244.3	-	9	1854	c.1796C>T	c.(1795-1797)tCt>tTt	p.S599F		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	599	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCGgccgccagagctgccgcc	0.711000													10	11					0	0	0.00185496	0	0
HDAC9	9734	broad.mit.edu	37	7	18801810	18801810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:18801810G>A	ENST00000406451.3	+	15	2215	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	HDAC9_ENST00000432645.2_Missense_Mutation_p.E689K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E648K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E692K	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	689	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.E692*(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGCCTGGAGGAAATACAGCT	0.483000													10	26					0	0	0.000978159	0	0
OR5F1	338674	broad.mit.edu	37	11	55761238	55761238	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55761238C>T	ENST00000278409.1	-	1	863	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGCTGTAGATCAGAGGATTCA	0.433000													18	27					0	0	0.00074312	0	0
UBBP4	23666	broad.mit.edu	37	17	21731223	21731223	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:21731223C>T	ENST00000584755.1	+	2	922	c.525C>T	c.(523-525)atC>atT	p.I175I	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTGACACCATCGAAAATGTGA	0.547000													21	26					0	0	0.00047179	0	0
CTCF	10664	broad.mit.edu	37	16	67662404	67662404	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:67662404C>T	ENST00000264010.4	+	9	2094	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	CTCF_ENST00000401394.1_Silent_p.F222F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	550					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACCCCAACTTCGTCCCTGCGG	0.502000													42	88					0	0	0.000781405	0	0
KAT6B	23522	broad.mit.edu	37	10	76790158	76790158	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:76790158T>A	ENST00000287239.4	+	18	6065	c.5576T>A	c.(5575-5577)gTt>gAt	p.V1859D	KAT6B_ENST00000372711.1_Missense_Mutation_p.V1676D|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1567D|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1567D|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1567D	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1859	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACAGGGCTTGTTCAACTTTCT	0.517000													37	37					0	0	0.00222228	0	0
AOC4P	90586	broad.mit.edu	37	17	41020194	41020194	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:41020194C>T	ENST00000585538.1	+	0	1033					NR_002773.1																						GGGTCCTGGTCCCTGAAGTCC	0.652000													5	8					0	0	0.00116845	0	0
OTOA	146183	broad.mit.edu	37	16	21698771	21698771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21698771G>A	ENST00000388958.3	+	7	438	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000286149.4_Missense_Mutation_p.R146Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	146					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGAGATTCGAGAACGAGCC	0.522000													31	67					0	0	0.00170553	0	0
CDH10	1008	broad.mit.edu	37	5	24488091	24488091	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:24488091T>C	ENST00000264463.4	-	12	2555	c.2048A>G	c.(2047-2049)gAa>gGa	p.E683G	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	683					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAGCTTTTTTTCCTCAATGGC	0.478000										HNSCC(23;0.051)			26	47					0	0	0.00106085	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945674	43945674	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:43945674G>A	ENST00000389420.3	-	1	50	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ADAMTS20_ENST00000553158.1_Silent_p.F17F	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	17						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCTGGTGATGAAGAGCGAGA	0.652000													16	40					0	0	0.00074312	0	0
IFT140	9742	broad.mit.edu	37	16	1573895	1573895	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:1573895G>A	ENST00000426508.2	-	25	3567	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	IFT140_ENST00000361339.5_Silent_p.I262I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1068										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCCGCCTCGATCATGTCCT	0.667000													11	26					0	0	0.00185496	0	0
MYH2	4620	broad.mit.edu	37	17	10440997	10440997	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10440997G>A	ENST00000245503.5	-	15	1956	c.1572C>T	c.(1570-1572)atC>atT	p.I524I	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.I524I|MYH2_ENST00000397183.2_Silent_p.I524I|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	524	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGATGAGCTCGATGCAGGCAG	0.433000													43	42					0	0	0.000781405	0	0
CFHR2	3080	broad.mit.edu	37	1	196928202	196928202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:196928202G>A	ENST00000367415.4	+	5	919	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	CFHR2_ENST00000367421.3_Missense_Mutation_p.E269K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	269						extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CAGTTGTGAAGAAAAATAGAA	0.294000													15	35					0	0	0.000566183	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520571	72520571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:72520571C>T	ENST00000373208.1	+	22	3643	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1212S	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1212	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTGAGACATCCCGGCACCAG	0.642000													9	8					0	0	0.000673444	0	0
ZNF76	7629	broad.mit.edu	37	6	35259167	35259167	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:35259167C>T	ENST00000373953.3	+	8	1004	c.738C>T	c.(736-738)gtC>gtT	p.V246V	ZNF76_ENST00000339411.5_Silent_p.V246V|ZNF76_ENST00000440666.2_Silent_p.V220V	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	246					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AGAAGCATGTCCGTACCCACA	0.567000													8	19					0	0	0.000274275	0	0
FSHR	2492	broad.mit.edu	37	2	49247283	49247283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:49247283C>T	ENST00000406846.2	-	3	360	c.241G>A	c.(241-243)Gat>Aat	p.D81N	FSHR_ENST00000346173.3_Missense_Mutation_p.D81N|FSHR_ENST00000304421.4_Missense_Mutation_p.D81N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	81					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCCAAGACATCATTCTGAGAG	0.408000									Gonadal Dysgenesis, 46 XX				83	213					0	0	0.000781405	0	0
IL2	3558	broad.mit.edu	37	4	123377456	123377456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:123377456C>T	ENST00000226730.4	-	1	424	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	47					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TACATTAATTCCATTCAAAAT	0.308000			T	TNFRSF17	intestinal T-cell lymphoma								10	27					0	0	0.000442599	0	0
PKHD1	5314	broad.mit.edu	37	6	51941127	51941127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:51941127G>A	ENST00000371117.3	-	6	670	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S132F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	132					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)					CTGCGCCTTGGAAAACTGTTT	0.393000													15	29					0	0	0.00074312	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32487313	32487313	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32487313C>T	ENST00000374975.3	-	3	548	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR beta 5	162	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCTGGCTGTTCCGGAACCACC	0.552000													23	189					0	0	0.00209593	0	0
ZNF785	146540	broad.mit.edu	37	16	30596534	30596534	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30596534C>T	ENST00000395216.2	-	2	402	c.243G>A	c.(241-243)gtG>gtA	p.V81V	ZNF785_ENST00000470110.1_Silent_p.V81V	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CTTCTCCTTCCACCCACGAGA	0.592000													7	18					0	0	0.00198382	0	0
HCN3	57657	broad.mit.edu	37	1	155252280	155252280	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:155252280G>A	ENST00000368358.3	+	2	365	c.357G>A	c.(355-357)aaG>aaA	p.K119K	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	119						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCTTCAAGGAGGAGAACT	0.537000													17	45					0	0	0.000958276	0	0
LLGL1	3996	broad.mit.edu	37	17	18140908	18140908	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:18140908C>T	ENST00000316843.4	+	14	1821	c.1725C>T	c.(1723-1725)agC>agT	p.S575S		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	575					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AGCGGCTGAGCCCACGCACGG	0.677000													9	8					0	0	0.000978159	0	0
FSIP1	161835	broad.mit.edu	37	15	40034077	40034077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:40034077G>A	ENST00000350221.3	-	6	793	c.584C>T	c.(583-585)aCc>aTc	p.T195I	FSIP1_ENST00000559692.1_5'UTR	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	195										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGAGGAAAAGGTGTCTTCCTC	0.313000													17	11					0	0	0.00152264	0	0
RAB35	11021	broad.mit.edu	37	12	120536843	120536843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:120536843G>A	ENST00000229340.5	-	4	531	c.343C>T	c.(343-345)Cga>Tga	p.R115*	RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Nonsense_Mutation_p.R115*	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	115					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CCTAATATTCGGCACACATCA	0.597000													16	29					0	0	0.000566183	0	0
OR4C15	81309	broad.mit.edu	37	11	55322769	55322769	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55322769C>T	ENST00000314644.2	+	1	987	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TATTTTATATCATCTTAAATC	0.378000										HNSCC(20;0.049)			38	46					0	0	0.00148497	0	0
TRPM6	140803	broad.mit.edu	37	9	77339583	77339583	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:77339583C>T	ENST00000451710.3	-	38	6264	c.6027G>A	c.(6025-6027)gaG>gaA	p.E2009E	TRPM6_ENST00000376871.3_Silent_p.E842E|TRPM6_ENST00000361255.3_Silent_p.E2000E|TRPM6_ENST00000360774.1_Silent_p.E2005E|TRPM6_ENST00000449912.2_Silent_p.E2000E|TRPM6_ENST00000376872.3_Silent_p.E960E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	2005					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGCTGGAGGCTCCTCAGCTG	0.438000													51	63					0	0	0.000781405	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121932	73121932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:73121932C>T	ENST00000373189.5	+	6	1047	c.995C>T	c.(994-996)tCc>tTc	p.S332F	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	332					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AACATCGAGTCCCTCAACAAG	0.567000													68	88					0	0	0.000781405	0	0
DDX4	54514	broad.mit.edu	37	5	55111156	55111156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:55111156C>T	ENST00000505374.1	+	21	2094	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	DDX4_ENST00000511853.1_Missense_Mutation_p.P519S|DDX4_ENST00000354991.5_Missense_Mutation_p.P634S|DDX4_ENST00000353507.5_Missense_Mutation_p.P634S|DDX4_ENST00000514278.2_Missense_Mutation_p.P648S	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	668	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACAGGATGTTCCTGCATGGTT	0.343000													28	47					0	0	0.000878237	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573247	90573247	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:90573247C>T	ENST00000551025.1	+	0	3256							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGCATATGTTCCCTCCATAAG	0.423000													6	11					0	0	0.000157383	0	0
SUGP2	10147	broad.mit.edu	37	19	19135663	19135663	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:19135663G>A	ENST00000601879.1	-	3	1791	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SUGP2_ENST00000452918.2_Silent_p.I498I|SUGP2_ENST00000456085.2_Silent_p.I267I|SUGP2_ENST00000600377.1_Silent_p.I512I|SUGP2_ENST00000337018.6_Silent_p.I498I			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	498					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGCTTCTAAGATTTTCTCCT	0.507000													37	93					0	0	0.00111076	0	0
THSD7B	80731	broad.mit.edu	37	2	138163223	138163223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:138163223G>A	ENST00000409968.1	+	13	2719	c.2541G>A	c.(2539-2541)atG>atA	p.M847I	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.M847I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M816I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCAGAAATGATGGAATGCC	0.438000													15	35					0	0	0.00152264	0	0
HNF1B	6928	broad.mit.edu	37	17	36099523	36099523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:36099523G>A	ENST00000225893.4	-	2	813	c.452C>T	c.(451-453)tCc>tTc	p.S151F	HNF1B_ENST00000427275.2_Missense_Mutation_p.S151F|HNF1B_ENST00000561193.1_Missense_Mutation_p.S151F|HNF1B_ENST00000560016.1_Missense_Mutation_p.S151F	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	151			S -> P (in RCAD).		endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAGATGCTGGGAGAGGTGCGA	0.557000													329	376					0	0	0.000781405	0	0
TRHDE	29953	broad.mit.edu	37	12	72771779	72771779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:72771779G>A	ENST00000261180.4	+	3	1154	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	353					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R353Q(1)		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						aattaGGTACGATTATATGCA	0.313000													15	29					0	0	0.00244969	0	0
IQCA1	79781	broad.mit.edu	37	2	237246975	237246975	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:237246975C>T	ENST00000409907.3	-	17	2281	c.2007G>A	c.(2005-2007)ctG>ctA	p.L669L	IQCA1_ENST00000431676.2_Silent_p.L628L|IQCA1_ENST00000309507.5_Silent_p.L666L			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	669							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CATCTGGTTTCAGGAGTTTCA	0.413000													22	63					0	0	0.000878237	0	0
A2ML1	144568	broad.mit.edu	37	12	8998761	8998761	+	Silent	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:8998761T>C	ENST00000299698.7	+	14	1806	c.1626T>C	c.(1624-1626)agT>agC	p.S542S	A2ML1_ENST00000539547.1_Silent_p.S51S|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	386						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTTTCCCAGTGGAGGTGTTG	0.463000													37	67					0	0	0.000814825	0	0
AKAP6	9472	broad.mit.edu	37	14	33069899	33069899	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:33069899G>A	ENST00000280979.4	+	7	2801	c.2631G>A	c.(2629-2631)cgG>cgA	p.R877R	AKAP6_ENST00000557354.1_Silent_p.R877R|AKAP6_ENST00000557272.1_Silent_p.R877R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	877					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAATCAAACGGCAGCACAGCT	0.532000													22	24					0	0	0.00047179	0	0
CTNND2	1501	broad.mit.edu	37	5	11565081	11565081	+	Missense_Mutation	SNP	C	C	T	rs139706540		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:11565081C>T	ENST00000304623.8	-	3	451	c.262G>A	c.(262-264)Gag>Aag	p.E88K	CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E88K|CTNND2_ENST00000503622.1_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	88					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGCCAGTCTCGGATCCGAGC	0.527000													9	23					0	0	0.000442599	0	0
PPL	5493	broad.mit.edu	37	16	4935273	4935273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:4935273C>T	ENST00000345988.2	-	22	3472	c.3383G>A	c.(3382-3384)aGg>aAg	p.R1128K	PPL_ENST00000590782.2_Missense_Mutation_p.R1126K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1128					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGACCTCCCTCTCGGTGGC	0.617000													10	22					0	0	0.000442599	0	0
ALG5	29880	broad.mit.edu	37	13	37573378	37573378	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:37573378G>A	ENST00000239891.3	-	1	126	c.60C>T	c.(58-60)ctC>ctT	p.L20L	ALG5_ENST00000443765.1_Silent_p.L20L|ALG5_ENST00000413537.2_Silent_p.L20L|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000496689.1_Intron	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	20					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCACCAGTACGAGGGCTGCGG	0.697000													12	18					0	0	0.000308642	0	0
AMPD3	272	broad.mit.edu	37	11	10516551	10516551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:10516551G>A	ENST00000444303.2	+	7	1235	c.763G>A	c.(763-765)Gga>Aga	p.G255R	AMPD3_ENST00000396554.3_Missense_Mutation_p.G423R	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	414					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CTATCTGGGAGGAGAGTACTT	0.532000													35	101					0	0	0.00170553	0	0
RYR2	6262	broad.mit.edu	37	1	237777442	237777442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:237777442G>A	ENST00000366574.2	+	37	5331	c.5014G>A	c.(5014-5016)Gtg>Atg	p.V1672M	RYR2_ENST00000542537.1_Missense_Mutation_p.V1656M|RYR2_ENST00000360064.6_Missense_Mutation_p.V1670M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1672	4 X approximate repeats.				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)			GAACCACCGGGTGGCCCATGC	0.522000													14	33					0	0	0.000422831	0	0
PSD3	23362	broad.mit.edu	37	8	18729234	18729234	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:18729234G>A	ENST00000440756.2	-	3	1242	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	PSD3_ENST00000327040.8_Silent_p.S380S|PSD3_ENST00000523619.1_Silent_p.S315S			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	380					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GACGCACAGGGGAAAATGTCC	0.468000													16	31					0	0	0.000566183	0	0
TRAV5	28688	broad.mit.edu	37	14	22217917	22217917	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:22217917G>A	ENST00000390427.3	+	0	280																											GAATAAAAAGGATAAACATCT	0.433000													17	28					0	0	0.00074312	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879626	39879626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:39879626C>T	ENST00000530275.1	+	1	3476	c.3281C>T	c.(3280-3282)tCc>tTc	p.S1094F	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1094	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			GAGCCTGCCTCCCTAGCAGCT	0.647000													3	10					0	0	6.4e-05	0	0
NRXN2	9379	broad.mit.edu	37	11	64416209	64416209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64416209C>T	ENST00000265459.6	-	16	3741	c.3280G>A	c.(3280-3282)Gat>Aat	p.D1094N	NRXN2_ENST00000377559.3_Missense_Mutation_p.D1054N|NRXN2_ENST00000377551.1_Missense_Mutation_p.D1094N|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1087N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1094					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CACTCACCATCACAGCCCCTC	0.647000													17	15					0	0	0.000958276	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673292	141673292	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141673292G>A	ENST00000547270.1	-	1	281	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	66					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493000													28	77					0	0	0.00106085	0	0
MUC16	94025	broad.mit.edu	37	19	9073481	9073481	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9073481G>A	ENST00000397910.4	-	3	14168	c.13965C>T	c.(13963-13965)ttC>ttT	p.F4655F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4657	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						AAATATCTGGGAACTTTGTTG	0.463000													29	61					0	0	0.00178596	0	0
KCTD3	51133	broad.mit.edu	37	1	215777493	215777493	+	Silent	SNP	C	C	T	rs138597417	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:215777493C>T	ENST00000259154.4	+	13	1452	c.1158C>T	c.(1156-1158)atC>atT	p.I386I		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	386						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTAACTGGATCGAGATCGCCT	0.443000													15	47					0	0	0.00074312	0	0
ADAM7	8756	broad.mit.edu	37	8	24342819	24342819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24342819G>A	ENST00000175238.6	+	10	988	c.905G>A	c.(904-906)gGa>gAa	p.G302E	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G74E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G302E	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	302	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G302E(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATGTGCAAGGAATTTCTTAT	0.343000													22	89					0	0	0.000878237	0	0
SDK2	54549	broad.mit.edu	37	17	71348736	71348736	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:71348736C>T	ENST00000392650.3	-	41	5634	c.5634G>A	c.(5632-5634)aaG>aaA	p.K1878K	SDK2_ENST00000388726.3_Silent_p.K1859K|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1878	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCTCACCTCCTTGGGGATGT	0.597000													14	38					0	0	0.000422831	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308473	205308473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205308473C>T	ENST00000367156.3	-	7	1422	c.606G>A	c.(604-606)tgG>tgA	p.W202*	KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.W202*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.W68*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.W202*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.W89*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	202										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAACTTGGTCCAGGAGCGAG	0.582000													7	16					0	0	0.000274275	0	0
PNMA5	114824	broad.mit.edu	37	X	152159968	152159968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:152159968C>T	ENST00000439251.1	-	2	613	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	PNMA5_ENST00000452693.1_Missense_Mutation_p.E59K|PNMA5_ENST00000535214.1_Missense_Mutation_p.E59K|PNMA5_ENST00000361887.5_Missense_Mutation_p.E59K	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	59					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					gcattgtcttccctcctgaac	0.527000													44	15					0	0	0.0025221	0	0
MKS1	54903	broad.mit.edu	37	17	56293523	56293523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:56293523C>T	ENST00000393119.2	-	4	417	c.343G>A	c.(343-345)Gag>Aag	p.E115K	MKS1_ENST00000313863.6_Missense_Mutation_p.E115K|MKS1_ENST00000537529.2_Missense_Mutation_p.E105K|MKS1_ENST00000337050.7_Missense_Mutation_p.E115K|MKS1_ENST00000546108.1_5'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	115					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCGAATTCTCCAGCTTCAGG	0.428000													31	107					0	0	0.0024448	0	0
SPTAN1	6709	broad.mit.edu	37	9	131353854	131353854	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131353854C>T	ENST00000372739.3	+	22	3215	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	SPTAN1_ENST00000358161.5_Silent_p.L1035L|SPTAN1_ENST00000372731.4_Silent_p.L1035L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1035					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGAGAATCTCCTGGAGGAGC	0.572000													49	83					0	0	0.000781405	0	0
MCU	90550	broad.mit.edu	37	10	74631160	74631160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:74631160C>T	ENST00000536019.1	+	6	981	c.536C>T	c.(535-537)gCt>gTt	p.A179V	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Missense_Mutation_p.A228V|MCU_ENST00000357157.6_Missense_Mutation_p.A207V	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	228					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGCAGAAAAGCTGAGAAGAGG	0.448000													71	84					0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168100111G>A	ENST00000409195.1	+	9	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	562					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGTTTCGAAACTCAACC	0.373000													24	31					0	0	0.00229938	0	0
DSG2	1829	broad.mit.edu	37	18	29102112	29102112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:29102112C>T	ENST00000261590.8	+	6	799	c.590C>T	c.(589-591)tCc>tTc	p.S197F	DSG2_ENST00000585206.1_Missense_Mutation_p.S197F	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	197	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)			TCGAAAATTTCCTATAGAATC	0.378000													19	34					0	0	0.00152264	0	0
LMBRD1	55788	broad.mit.edu	37	6	70408946	70408946	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:70408946A>G	ENST00000370577.3	-	13	1556	c.1327T>C	c.(1327-1329)Tac>Cac	p.Y443H	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y370H	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	443					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TCTATTAAGTAATTTTGGCTT	0.289000													15	43					0	0	0.00074312	0	0
CTR9	9646	broad.mit.edu	37	11	10797129	10797129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:10797129C>T	ENST00000361367.2	+	24	3470	c.3044C>T	c.(3043-3045)tCa>tTa	p.S1015L		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	1015	Ser-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCCATAATTTCATCAAGTGAT	0.343000													8	16					0	0	0.000157383	0	0
GJA10	84694	broad.mit.edu	37	6	90605712	90605712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:90605712G>A	ENST00000369352.1	+	1	1525	c.1525G>A	c.(1525-1527)Ggg>Agg	p.G509R		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	509					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTTCTTCCTGGGGTGTGTAT	0.403000													16	53					0	0	0.000422831	0	0
RIMS1	22999	broad.mit.edu	37	6	72889377	72889377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:72889377G>A	ENST00000264839.7	+	5	571	c.571G>A	c.(571-573)Gga>Aga	p.G191R	RIMS1_ENST00000348717.5_Missense_Mutation_p.G191R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G191R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G191R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G191R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G191R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G191R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G191R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	191					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGTCAGGATGGAACCCTGAG	0.493000													13	36					0	0	0.000308642	0	0
AHNAK	79026	broad.mit.edu	37	11	62299704	62299704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:62299704G>A	ENST00000378024.4	-	5	2459	c.2185C>T	c.(2185-2187)Cca>Tca	p.P729S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	729					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTTTGGGCCTTTGAGT	0.468000													89	106					0	0	0.000781405	0	0
ADAM28	10863	broad.mit.edu	37	8	24201064	24201064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24201064C>T	ENST00000265769.4	+	18	2067	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.P400S|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	653	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGGATGGATCCCTCCCGACTG	0.483000													13	35					0	0	0.000422831	0	0
C8orf37	157657	broad.mit.edu	37	8	96259868	96259868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:96259868G>A	ENST00000286688.5	-	6	612	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	201										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CAAACCCAGCGAAGCTGATGA	0.433000													165	360					0	0	0.000781405	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032418	142032418	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142032418C>T	ENST00000547918.2	+	0	271																											ATCGGGGCTTCCCCGTGATCG	0.552000													10	12					0	0	0.000442599	0	0
KRT13	3860	broad.mit.edu	37	17	39659251	39659251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39659251C>T	ENST00000246635.3	-	4	881	c.835G>A	c.(835-837)Gag>Aag	p.E279K	KRT13_ENST00000587544.1_Missense_Mutation_p.E279K|KRT13_ENST00000336861.3_Missense_Mutation_p.E279K	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	279	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCGTACTGCTCCCTCATCTCT	0.602000													104	134					0	0	0.000781405	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													5	92					0	0	0.000602214	0	0
RANBP2	5903	broad.mit.edu	37	2	109371668	109371668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:109371668C>T	ENST00000283195.6	+	17	2545	c.2419C>T	c.(2419-2421)Cag>Tag	p.Q807*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCAGAAGATCAGAATTCTTT	0.328000													84	248					0	0	0.000781405	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226541	152226541	+	Silent	SNP	G	G	A	rs144393744	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:152226541G>A	ENST00000243347.3	+	4	477	c.402G>A	c.(400-402)gaG>gaA	p.E134E		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	134					cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		CAGCAAAGGAGTGTGGTGGCG	0.358000													18	57					0	0	0.00152264	0	0
JADE2	23338	broad.mit.edu	37	5	133895527	133895527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:133895527C>T	ENST00000395003.1	+	5	498	c.319C>T	c.(319-321)Cca>Tca	p.P107S	PHF15_ENST00000282605.4_Missense_Mutation_p.P107S|PHF15_ENST00000361895.2_Missense_Mutation_p.P107S|PHF15_ENST00000402835.1_Missense_Mutation_p.P107S	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		107					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAGGATCCTCCCACCACTGGA	0.637000													4	25					0	0	0.000602214	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997691	19997691	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:19997691G>A	ENST00000391403.2	-	1	187	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	28						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCTCCACAAGAAGAGAACAG	0.413000													13	32					0	0	0.00136819	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697256	48697256	+	Missense_Mutation	SNP	C	C	G	rs147266128		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:48697256C>G	ENST00000236495.5	+	7	775	c.725C>G	c.(724-726)aCg>aGg	p.T242R	SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.T238R|SLC5A9_ENST00000438567.2_Missense_Mutation_p.T217R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	217						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCTCTGCAGACGGTGATCATG	0.542000													14	13					0	0	0.00074312	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940530	21940530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:21940530G>A	ENST00000542643.2	-	9	646	c.344C>T	c.(343-345)tCa>tTa	p.S115L	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S146L|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S115L|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S115L|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S179L	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	115					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)		GTACTTGAGTGAGAAGACAAG	0.607000													5	5					0	0	0.00116845	0	0
MECOM	2122	broad.mit.edu	37	3	168810796	168810796	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:168810796G>A	ENST00000464456.1	-	12	3723	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F	MECOM_ENST00000433243.2_Silent_p.F851F|MECOM_ENST00000472280.1_Silent_p.F851F|MECOM_ENST00000468789.1_Silent_p.F850F|MECOM_ENST00000392736.3_Silent_p.F850F|MECOM_ENST00000494292.1_Silent_p.F1029F|MECOM_ENST00000460814.1_Silent_p.F841F|MECOM_ENST00000264674.3_Silent_p.F915F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTTCCCAATGAAATTTCGAA	0.433000													34	69					0	0	0.000692331	0	0
C2orf16	84226	broad.mit.edu	37	2	27802554	27802554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:27802554G>A	ENST00000408964.2	+	1	3166	c.3115G>A	c.(3115-3117)Gat>Aat	p.D1039N		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1039										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATATTTTACGATAGAGAAGA	0.453000													49	81					0	0	0.000781405	0	0
CENPQ	55166	broad.mit.edu	37	6	49459879	49459879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:49459879C>T	ENST00000335783.3	+	9	792	c.698C>T	c.(697-699)cCa>cTa	p.P233L		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	233					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					GCGCTAATTCCAAACCAGAAT	0.328000													13	29					0	0	0.000422831	0	0
MUC17	140453	broad.mit.edu	37	7	100692607	100692607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100692607G>A	ENST00000306151.4	+	6	12730	c.12666G>A	c.(12664-12666)atG>atA	p.M4222I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4222	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTTTCAGATGAATATTGTGT	0.577000													32	117					0	0	0.000814825	0	0
KCNS2	3788	broad.mit.edu	37	8	99441541	99441541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:99441541G>A	ENST00000287042.4	+	2	1684	c.1334G>A	c.(1333-1335)aGg>aAg	p.R445K	KCNS2_ENST00000521839.1_Missense_Mutation_p.R445K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	445						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTCAATTTAAGGGACTATTAT	0.463000													34	61					0	0	0.000814825	0	0
WRNIP1	56897	broad.mit.edu	37	6	2779538	2779538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:2779538C>T	ENST00000380769.4	+	4	869	c.638C>T	c.(637-639)gCt>gTt	p.A213V	WRNIP1_ENST00000380764.1_Missense_Mutation_p.A49V|WRNIP1_ENST00000380771.4_Missense_Mutation_p.A408V|WRNIP1_ENST00000380773.4_Missense_Mutation_p.A433V			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	433					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GACACCCTGGCTTACCTCAGT	0.532000													19	82					0	0	0.00047179	0	0
CNTN3	5067	broad.mit.edu	37	3	74350890	74350890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:74350890C>T	ENST00000263665.6	-	14	1880	c.1853G>A	c.(1852-1854)tGg>tAg	p.W618*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	618	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTTCTTTCCAAGAGAGTTG	0.453000													16	47					0	0	0.000958276	0	0
NACAP1	83955	broad.mit.edu	37	8	102381355	102381355	+	RNA	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:102381355A>T	ENST00000419462.1	+	0	767					NR_002182.1																						CGGAGTGAAAAGAAGGCACGG	0.463000													25	86					0	0	0.000878237	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100004371	100004371	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100004371G>A	ENST00000398027.2	-	12	1363	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	ZCWPW1_ENST00000324725.6_Silent_p.I252I|ZCWPW1_ENST00000360951.4_Silent_p.I373I|ZCWPW1_ENST00000490721.1_Silent_p.I252I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	372	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTTGACTGGGATCCATGCAC	0.448000													19	61					0	0	0.00152264	0	0
SI	6476	broad.mit.edu	37	3	164767579	164767579	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:164767579C>T	ENST00000264382.3	-	14	1659	c.1597_splice	c.e14+1	p.D533_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	533	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAATTTTACCAGGAGTAAAC	0.264000										HNSCC(35;0.089)			28	61					0	0	0.00106085	0	0
TNFSF14	8740	broad.mit.edu	37	19	6667151	6667151	+	Nonsense_Mutation	SNP	C	C	A	rs143854617	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6667151C>A	ENST00000326176.9	-	4	544	c.163G>T	c.(163-165)Gag>Tag	p.E55*	TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.E91*|TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.E55*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	91					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.E91*(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGGTTGACCTCGTGAGACCTT	0.587000													11	48					5.50884e-06	2.13894e-05	0.00136819	1	0
HERC2	8924	broad.mit.edu	37	15	28436199	28436199	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:28436199C>G	ENST00000261609.7	-	55	8669	c.8561G>C	c.(8560-8562)gGa>gCa	p.G2854A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2854	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGGAATTTCCACCTAGGAA	0.368000													10	19					0	0	0.000442599	0	0
FAT2	2196	broad.mit.edu	37	5	150911369	150911369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:150911369G>A	ENST00000261800.5	-	13	9602	c.9590C>T	c.(9589-9591)cCg>cTg	p.P3197L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3197	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGGACAGCGGTATTGGGGT	0.667000													26	51					0	0	0.000692331	0	0
AKAP6	9472	broad.mit.edu	37	14	33293360	33293360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:33293360C>T	ENST00000280979.4	+	13	6511	c.6341C>T	c.(6340-6342)tCt>tTt	p.S2114F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2114					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCGTACTTATCTCTCTCATCT	0.463000													29	30					0	0	0.001512	0	0
OR6B1	135946	broad.mit.edu	37	7	143701246	143701246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143701246C>T	ENST00000408922.2	+	1	225	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCTGCAAAATCGGCCACTGCA	0.473000													16	38					0	0	0.000308642	0	0
THSD7B	80731	broad.mit.edu	37	2	138414466	138414466	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:138414466G>A	ENST00000409968.1	+	23	4384	c.4206G>A	c.(4204-4206)agG>agA	p.R1402R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.R1405R|THSD7B_ENST00000413152.2_Silent_p.R1374R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTAGATCAAGGACTTTTATAA	0.448000													47	76					0	0	0.000781405	0	0
COX10	1352	broad.mit.edu	37	17	14110257	14110257	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:14110257C>T	ENST00000261643.3	+	7	1136	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	COX10_ENST00000537334.1_Silent_p.C136C|COX10_ENST00000536205.1_Silent_p.C161C	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	353					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CGGGCCTGTGCCGGCGCGTGG	0.667000													18	16					0	0	0.00152264	0	0
SEC16B	89866	broad.mit.edu	37	1	177911163	177911163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:177911163G>A	ENST00000308284.6	-	16	1983	c.1894C>T	c.(1894-1896)Ctt>Ttt	p.L632F	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)	632					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						GAAGCATAAAGGAGCTTATAC	0.493000													5	14					0	0	0.000602214	0	0
RAB6C	84084	broad.mit.edu	37	2	130738127	130738127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:130738127G>A	ENST00000410061.2	+	1	893	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	147					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					GAAAGCCAAAGGGCTGAATGT	0.453000													56	143					0	0	0.000781405	0	0
NKAPL	222698	broad.mit.edu	37	6	28227361	28227361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:28227361C>T	ENST00000343684.3	+	1	264	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	71										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCTCTGGGTCGCGAGGGCGG	0.607000													18	59					0	0	0.00074312	0	0
SUSD2	56241	broad.mit.edu	37	22	24579559	24579559	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:24579559C>T	ENST00000358321.3	+	3	645	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	128					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCATCCCCTTCACTGTGTCAC	0.637000													18	35					0	0	0.00074312	0	0
GLT1D1	144423	broad.mit.edu	37	12	129442178	129442178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:129442178C>T	ENST00000442111.2	+	11	957	c.869C>T	c.(868-870)tCc>tTc	p.S290F	GLT1D1_ENST00000281703.6_Missense_Mutation_p.S210F|GLT1D1_ENST00000537468.1_Missense_Mutation_p.S295F|GLT1D1_ENST00000542193.1_Missense_Mutation_p.S207F			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	290					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTACTGTTTTCCAATCCTCAG	0.448000													7	20					0	0	0.000157383	0	0
MYH13	8735	broad.mit.edu	37	17	10248823	10248823	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10248823G>A	ENST00000418404.3	-	13	1537	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	MYH13_ENST00000252172.4_Silent_p.F458F|MYH13_ENST00000570743.1_Silent_p.F458F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	458	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGACCCCGATGAAGTACTGCC	0.512000													46	45					0	0	0.000781405	0	0
ZHX2	22882	broad.mit.edu	37	8	123966097	123966097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:123966097G>A	ENST00000314393.4	+	3	3182	c.2347G>A	c.(2347-2349)Gac>Aac	p.D783N		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	783						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAGGGTAGCGACGAGAACGA	0.602000													7	15					0	0	0.00198382	0	0
CCDC146	57639	broad.mit.edu	37	7	76908345	76908345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:76908345G>A	ENST00000285871.4	+	13	1748	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	CCDC146_ENST00000431197.1_Missense_Mutation_p.E255K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	541										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GAAAGTAAATGAAATAAAAGA	0.308000													15	35					0	0	0.000422831	0	0
SERPINA1	5265	broad.mit.edu	37	14	94845793	94845793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:94845793G>A	ENST00000402629.1	-	4	1106	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	SERPINA1_ENST00000393088.4_Intron|SERPINA1_ENST00000440909.1_Intron|SERPINA1_ENST00000404814.4_Intron|SERPINA1_ENST00000449399.3_Intron|SERPINA1_ENST00000448921.1_Intron|SERPINA1_ENST00000393087.4_Intron|SERPINA1_ENST00000437397.1_Intron|SERPINA1_ENST00000355814.4_Intron			P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	0					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TCGTCAGGGTGATCTCACCTT	0.582000													24	34					0	0	0.000586117	0	0
PDE1C	5137	broad.mit.edu	37	7	32109955	32109955	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:32109955T>A	ENST00000396184.3	-	2	255	c.51A>T	c.(49-51)aaA>aaT	p.K17N	PDE1C_ENST00000396182.2_Missense_Mutation_p.K17N|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Missense_Mutation_p.K17N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K17N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	17					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTTGCAGGTATTTCAGAGAGT	0.507000													35	65					0	0	0.00148497	0	0
HNF1A	6927	broad.mit.edu	37	12	121416709	121416709	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:121416709G>A	ENST00000257555.6	+	1	364	c.138G>A	c.(136-138)aaG>aaA	p.K46K	HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000544413.1_Silent_p.K46K|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000402929.1_Silent_p.K46K|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000400024.2_Silent_p.K46K|HNF1A_ENST00000541395.1_Silent_p.K46K|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000543427.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	46					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D45fs*9(1)|p.D45fs*102(1)|p.Y36fs*107(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGGACAAGGGGGAGTCCT	0.697000									Hepatic Adenoma, Familial Clustering of				63	139					0	0	0.000781405	0	0
TLL2	7093	broad.mit.edu	37	10	98205860	98205860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:98205860C>T	ENST00000357947.3	-	3	577	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	118					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTTCCAGCTTCCTTGGTGCCA	0.483000													44	50					0	0	0.000781405	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21069035	21069035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21069035G>A	ENST00000381545.3	+	16	2182	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D655N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	655					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCAAGGAAAAGATACCAAGGC	0.333000													16	47					0	0	0.000422831	0	0
FGF13	2258	broad.mit.edu	37	X	137715134	137715134	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:137715134C>T	ENST00000315930.6	-	5	1276	c.615G>A	c.(613-615)aaG>aaA	p.K205K	FGF13_ENST00000305414.4_Silent_p.K152K|FGF13_ENST00000370603.3_Silent_p.K215K|FGF13_ENST00000541469.1_Silent_p.K159K|FGF13_ENST00000441825.2_Silent_p.K186K	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	205					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GTGATGGCTCCTTGTACATGG	0.478000													18	10					0	0	0.00121646	0	0
DNAH10	196385	broad.mit.edu	37	12	124350521	124350521	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:124350521C>T	ENST00000409039.3	+	40	6739	c.6714C>T	c.(6712-6714)tcC>tcT	p.S2238S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2238	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTATGCCTCCCCTGCAACTG	0.363000													27	72					0	0	0.0024448	0	0
CRAT	1384	broad.mit.edu	37	9	131870247	131870247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131870247G>A	ENST00000318080.2	-	2	431	c.137C>T	c.(136-138)tCc>tTc	p.S46F	CRAT_ENST00000464290.1_5'UTR|CRAT_ENST00000393384.3_Missense_Mutation_p.S46F	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	46					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTGGTCCAGGGACTGCTGGAG	0.622000													10	60					0	0	0.000442599	0	0
PCDH17	27253	broad.mit.edu	37	13	58207409	58207409	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:58207409C>T	ENST00000377918.3	+	1	755	c.729C>T	c.(727-729)ttC>ttT	p.F243F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	243	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCCGGTCTTCGAGGCGCCAT	0.612000													20	61					0	0	0.000958276	0	0
TGFBR3	7049	broad.mit.edu	37	1	92262983	92262983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:92262983G>A	ENST00000212355.4	-	3	572	c.107C>T	c.(106-108)tCc>tTc	p.S36F	TGFBR3_ENST00000525962.1_Missense_Mutation_p.S36F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S36F	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	36					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GACAGGATGGGAGGCACTGAC	0.547000													30	78					0	0	0.00283554	0	0
ALS2	57679	broad.mit.edu	37	2	202622460	202622460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:202622460G>A	ENST00000264276.6	-	5	1508	c.1136C>T	c.(1135-1137)cCt>cTt	p.P379L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	379					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTGGAGATTAGGAATTGCTTC	0.393000													11	36					0	0	0.00136819	0	0
SPTA1	6708	broad.mit.edu	37	1	158597434	158597434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158597434C>T	ENST00000368148.3	-	40	5825	c.5645G>A	c.(5644-5646)gGa>gAa	p.G1882E	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1882E|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1882					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATGTCTTCTCCTTGTGCACA	0.418000													26	67					0	0	0.00106085	0	0
MEPE	56955	broad.mit.edu	37	4	88767097	88767097	+	Silent	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:88767097T>C	ENST00000497649.2	+	6	1383	c.1005T>C	c.(1003-1005)gaT>gaC	p.D335D	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Silent_p.D359D|MEPE_ENST00000560249.1_Silent_p.D246D|MEPE_ENST00000424957.3_Silent_p.D359D|MEPE_ENST00000395102.4_Silent_p.D390D|MEPE_ENST00000540395.1_Silent_p.D246D			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	359					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACAGAGTGGATGCTGGCAGCC	0.473000													12	31					0	0	0.00185496	0	0
INSC	387755	broad.mit.edu	37	11	15257208	15257208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:15257208G>A	ENST00000379554.3	+	10	1418	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	INSC_ENST00000530161.1_Missense_Mutation_p.E411K|INSC_ENST00000424273.1_Missense_Mutation_p.E369K|INSC_ENST00000525218.1_Missense_Mutation_p.E369K|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.E411K|INSC_ENST00000528567.1_Missense_Mutation_p.E411K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	458					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CATCATTCAGGAAAATGGTAT	0.413000													42	57					0	0	0.000680045	0	0
DNAH2	146754	broad.mit.edu	37	17	7701560	7701560	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:7701560C>T	ENST00000572933.1	+	54	9776	c.8316C>T	c.(8314-8316)gcC>gcT	p.A2772A	DNAH2_ENST00000389173.2_Silent_p.A2772A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2772	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAGTCTGGCCCGCCTGGCTT	0.612000													22	17					0	0	0.00047179	0	0
DNAH11	8701	broad.mit.edu	37	7	21765493	21765493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:21765493C>T	ENST00000328843.6	+	46	7383	c.7352C>T	c.(7351-7353)cCg>cTg	p.P2451L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2444L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2451					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGAAATTTCCGTCGCAGGGA	0.403000									Kartagener syndrome				5	15					0	0	0.00116845	0	0
ZNF169	169841	broad.mit.edu	37	9	97062705	97062705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:97062705C>T	ENST00000395395.2	+	5	955	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	289						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGGGGAGAAGCCGTATGTGTG	0.557000													28	50					0	0	0.00106085	0	0
CACNA1B	774	broad.mit.edu	37	9	140953056	140953056	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:140953056C>T	ENST00000277549.5	+	30	4501	c.1932C>T	c.(1930-1932)ccC>ccT	p.P644P	CACNA1B_ENST00000277551.2_Silent_p.P1448P|CACNA1B_ENST00000371355.4_Silent_p.P1449P|CACNA1B_ENST00000371357.1_Silent_p.P1449P|CACNA1B_ENST00000371363.1_Silent_p.P1448P|CACNA1B_ENST00000371372.1_Silent_p.P1448P			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1448					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)	GCGCCAAACCCCTGACACGGT	0.527000													14	17					0	0	0.00074312	0	0
GRN	2896	broad.mit.edu	37	17	42429912	42429912	+	Silent	SNP	G	G	A	rs34100802		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:42429912G>A	ENST00000053867.3	+	12	1679	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	GRN_ENST00000589265.1_Silent_p.Q382Q	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	539					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACAACCGACAGGGCTGGGCCT	0.652000													42	35					0	0	0.00148497	0	0
CBX7	23492	broad.mit.edu	37	22	39530028	39530028	+	Silent	SNP	G	G	A	rs148637787		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:39530028G>A	ENST00000216133.5	-	6	829	c.624C>T	c.(622-624)ccC>ccT	p.P208P	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Silent_p.P115P	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	208					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TCCAGGGAGGGGGCCCCTCGG	0.662000													20	52					0	0	0.000586117	0	0
KLHL30	377007	broad.mit.edu	37	2	239049908	239049908	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:239049908C>T	ENST00000409223.1	+	2	620	c.513C>T	c.(511-513)ttC>ttT	p.F171F	KLHL30_ENST00000305959.4_Silent_p.F153F			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	171	BACK.									lung(4)	4		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGGACGAGTTCCTGCAGCTTC	0.657000													4	13					0	0	0.00024832	0	0
SIRT5	23408	broad.mit.edu	37	6	13588655	13588655	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:13588655T>C	ENST00000606117.1	+	4	504	c.208T>C	c.(208-210)Ttc>Ctc	p.F70L	SIRT5_ENST00000379262.4_Missense_Mutation_p.F70L|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.F70L	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	70	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TGTTCCGACCTTCAGAGGAGC	0.423000													13	51					0	0	0.00185496	0	0
NLRP11	204801	broad.mit.edu	37	19	56321612	56321612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56321612G>A	ENST00000443188.1	-	5	1074	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NLRP11_ENST00000589824.2_Missense_Mutation_p.R122C|NLRP11_ENST00000360133.3_Missense_Mutation_p.R122C|NLRP11_ENST00000592953.1_Missense_Mutation_p.R23C|NLRP11_ENST00000589093.1_Missense_Mutation_p.R122C	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	122							ATP binding	p.R122C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383000													11	33					0	0	0.000978159	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813486	24813486	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:24813486C>T	ENST00000376451.2	+	8	2000	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	KIAA1217_ENST00000376452.3_Silent_p.S862S|KIAA1217_ENST00000458595.1_Silent_p.S862S|KIAA1217_ENST00000376462.1_Silent_p.S817S|KIAA1217_ENST00000396446.1_Silent_p.S580S|KIAA1217_ENST00000376454.3_Silent_p.S897S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Silent_p.S580S|KIAA1217_ENST00000396445.1_Silent_p.S580S			Q5T5P2	SKT_HUMAN	KIAA1217	897					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAGCCCTCCCAGCACTCCG	0.647000													8	18					0	0	0.000274275	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121510	38121510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38121510C>T	ENST00000406386.3	+	7	3202	c.2947C>T	c.(2947-2949)Cca>Tca	p.P983S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	983					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCCATAACCCAGGCCACCA	0.642000													37	87					0	0	0.00128727	0	0
IFNK	56832	broad.mit.edu	37	9	27524689	27524689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:27524689G>A	ENST00000276943.2	+	1	378	c.355G>A	c.(355-357)Gat>Aat	p.D119N	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	119					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		AATAGGACTTGATCAGCAAGC	0.413000													39	69					0	0	0.000680045	0	0
MAPK4	5596	broad.mit.edu	37	18	48190850	48190850	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:48190850C>T	ENST00000400384.2	+	2	1558	c.522C>T	c.(520-522)atC>atT	p.I174I	MAPK4_ENST00000588540.1_Silent_p.I174I|MAPK4_ENST00000592595.1_Silent_p.I174I|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	174	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGGCAAGGATCGTTGATCAGC	0.532000													23	49					0	0	0.000720815	0	0
CPSF7	79869	broad.mit.edu	37	11	61183697	61183697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:61183697G>A	ENST00000340437.4	-	6	1054	c.974C>T	c.(973-975)cCt>cTt	p.P325L	CPSF7_ENST00000394888.4_Missense_Mutation_p.P282L|CPSF7_ENST00000439958.3_Missense_Mutation_p.P273L|CPSF7_ENST00000448745.1_Missense_Mutation_p.P273L	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	282	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GATGGCCCCAGGGGGAGGTAC	0.592000													14	19					0	0	0.000308642	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061940	103061940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:103061940C>T	ENST00000306312.3	-	3	283	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	SLC26A5_ENST00000432958.2_Missense_Mutation_p.E8K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E8K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Missense_Mutation_p.E8K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000393735.2_Missense_Mutation_p.E8K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	8					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCAAGGATTTCATTTTCTTCA	0.428000													15	39					0	0	0.000958276	0	0
UNC45B	146862	broad.mit.edu	37	17	33475450	33475450	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:33475450G>A	ENST00000268876.5	+	2	265	c.168_splice	c.e2+1	p.T56_splice	UNC45B_ENST00000591048.1_Splice_Site_p.T56_splice|UNC45B_ENST00000378449.1_Splice_Site_p.T56_splice|UNC45B_ENST00000433649.1_Splice_Site_p.T56_splice|UNC45B_ENST00000394570.2_Splice_Site_p.T56_splice	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	56					cell differentiation|muscle organ development	cytosol	binding	p.T56T(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCTGAAAACGGTCTGGGGCA	0.627000													25	20					0	0	0.000720815	0	0
MDC1	9656	broad.mit.edu	37	6	30672586	30672586	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30672586G>A	ENST00000376406.3	-	10	5021	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	MDC1_ENST00000376405.2_Silent_p.S1194S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1458	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGTGGAGGTGGAAGGCTGGA	0.567000								Other conserved DNA damage response genes					32	127					0	0	0.00209593	0	0
SAMD4A	23034	broad.mit.edu	37	14	55168868	55168868	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:55168868C>T	ENST00000251091.5	+	2	590	c.285C>T	c.(283-285)ctC>ctT	p.L95L	SAMD4A_ENST00000392067.3_Silent_p.L95L|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.L94L|SAMD4A_ENST00000554335.1_Silent_p.L95L	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	95					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGGAAACCTCGACGCGAAAG	0.458000													14	27					0	0	0.00185496	0	0
ASIC5	51802	broad.mit.edu	37	4	156775465	156775465	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:156775465A>G	ENST00000537611.2	-	3	395	c.347_splice	c.e3-1	p.F117_splice		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	117						integral to membrane|plasma membrane											TCTGTTTGGAACCTATTAGCA	0.343000													15	48					0	0	0.000308642	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090817	143090817	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:143090817T>G	ENST00000367603.2	-	5	5801	c.5059A>C	c.(5059-5061)Acc>Ccc	p.T1687P	HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1687P|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1687P	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGGTCTTGGTGTTCAATCCT	0.448000													24	65					0	0	0.00106085	0	0
C16orf92	146378	broad.mit.edu	37	16	30035385	30035385	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30035385C>A	ENST00000300575.2	+	3	376	c.355C>A	c.(355-357)Ctt>Att	p.L119I		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	119						integral to membrane				breast(3)|lung(3)	6						CTTCTTTCTCCTTTTCCAGTT	0.587000													18	47					2.94398e-08	1.14544e-07	0.000958276	1	0
HHIPL1	84439	broad.mit.edu	37	14	100129338	100129338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:100129338C>T	ENST00000330710.5	+	6	1726	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S543F	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	543					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.S543F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TACATCATCTCCTTCGGGGAG	0.607000													16	12					0	0	0.000422831	0	0
ZNF12	7559	broad.mit.edu	37	7	6730531	6730531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:6730531C>T	ENST00000405858.1	-	5	2583	c.2042G>A	c.(2041-2043)aGa>aAa	p.R681K	ZNF12_ENST00000404360.1_Missense_Mutation_p.R607K|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R643K	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	681					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCTATGAATTCTCTGATGGCT	0.378000													8	36					0	0	0.000157383	0	0
OR14C36	127066	broad.mit.edu	37	1	248512475	248512475	+	Silent	SNP	C	C	T	rs150366522		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248512475C>T	ENST00000317861.1	+	1	399	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCCTGTGATCGTGAACTCTC	0.507000													19	35					0	0	0.00229938	0	0
WISP3	8838	broad.mit.edu	37	6	112386127	112386127	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:112386127G>A	ENST00000361714.1	+	3	615	c.570G>A	c.(568-570)aaG>aaA	p.K190K	WISP3_ENST00000604763.1_Silent_p.K172K|WISP3_ENST00000230529.5_Silent_p.K172K|WISP3_ENST00000368666.2_Silent_p.K172K|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Silent_p.K149K			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	172					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	p.K190N(1)		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)		AAGGTGGAAAGAAGTCTGATC	0.483000													33	50					0	0	0.00058488	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693211	187693211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:187693211C>T	ENST00000295131.2	-	9	1441	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	468					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATAGATTATCTATTGTTGTA	0.289000													19	52					0	0	0.00229938	0	0
AIP	9049	broad.mit.edu	37	11	67256782	67256782	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:67256782C>T	ENST00000279146.3	+	3	442	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	108	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TCCGCAACATCGCGGTGGGCA	0.687000									Familial Isolated Pituitary Adenoma				6	12					0	0	0.00198382	0	0
CTNND2	1501	broad.mit.edu	37	5	10992745	10992745	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:10992745G>A	ENST00000304623.8	-	19	3318	c.3129C>T	c.(3127-3129)atC>atT	p.I1043I	CTNND2_ENST00000511377.1_Silent_p.I952I|CTNND2_ENST00000458100.2_Silent_p.I610I|CTNND2_ENST00000359640.2_Silent_p.I985I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.I706I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1043					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCCCTCTCGATGGTTGAAG	0.572000													26	51					0	0	0.00127121	0	0
CERS4	79603	broad.mit.edu	37	19	8319473	8319473	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8319473C>T	ENST00000558331.1	+	4	570	c.111C>T	c.(109-111)ttC>ttT	p.F37F	CERS4_ENST00000559336.1_Silent_p.F88F|CERS4_ENST00000559450.1_Silent_p.F88F|CERS4_ENST00000251363.5_Silent_p.F88F|CERS4_ENST00000595722.1_3'UTR			Q9HA82	CERS4_HUMAN	ceramide synthase 4	88						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGAAACACTTCCTCACGGAAG	0.652000													4	7					0	0	0.000602214	0	0
CTAG2	30848	broad.mit.edu	37	X	153880690	153880690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:153880690C>T	ENST00000247306.4	-	2	548	c.485G>A	c.(484-486)gGg>gAg	p.G162E	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	162						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTTTCTGCCCCTCCGGGGA	0.632000													35	15					0	0	0.00128727	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284533	52284533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:52284533G>A	ENST00000301190.6	+	5	1030	c.803G>A	c.(802-804)gGg>gAg	p.G268E	ANKRD33_ENST00000538991.1_Missense_Mutation_p.G74E|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G143E|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	143										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCCTTGTCCGGGCTCGTggcc	0.667000													9	17					0	0	0.000442599	0	0
PRTG	283659	broad.mit.edu	37	15	55930825	55930825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:55930825C>T	ENST00000389286.4	-	14	2421	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	792	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACGGCAAATTCGTATTTGGTG	0.393000													18	19					0	0	0.00121646	0	0
MIR543	100126335	broad.mit.edu	37	14	101498377	101498377	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:101498377C>T	ENST00000390751.1	+	0	54					NR_030619.1																						ACGAAACATTCGCGGTGCACT	0.498000													12	20					0	0	0.00244969	0	0
IL36A	27179	broad.mit.edu	37	2	113765561	113765561	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:113765561C>T	ENST00000259211.6	+	4	828	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	139					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GTCCTCTCATCCTTACCCAAG	0.507000													13	44					0	0	0.00185496	0	0
OR2J2	26707	broad.mit.edu	37	6	29141693	29141693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29141693C>T	ENST00000377167.2	+	1	383	c.281C>T	c.(280-282)tCg>tTg	p.S94L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S94*(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGACCATCTCGTATGCTGGT	0.473000													40	122					0	0	0.00128727	0	0
CLCA1	1179	broad.mit.edu	37	1	86951181	86951181	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:86951181C>T	ENST00000234701.3	+	7	1242	c.891C>T	c.(889-891)ttC>ttT	p.F297F	CLCA1_ENST00000394711.1_Silent_p.F297F			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	297					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATCCCACCTTCTCATTGCTGC	0.443000													24	97					0	0	0.00106085	0	0
ZNF16	7564	broad.mit.edu	37	8	146157923	146157923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:146157923C>T	ENST00000276816.4	-	4	436	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E84K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E84K(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCAAATCTTCATGAATGTCT	0.423000													27	50					0	0	0.000878237	0	0
OR1L6	392390	broad.mit.edu	37	9	125512453	125512453	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125512453G>A	ENST00000373684.1	+	1	435	c.435G>A	c.(433-435)ggG>ggA	p.G145G	OR1L6_ENST00000304720.2_Silent_p.G109G			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TGGCATTTGGGAACACTGACA	0.502000													54	74					0	0	0.000781405	0	0
BAI3	577	broad.mit.edu	37	6	70071080	70071080	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:70071080A>T	ENST00000370598.1	+	29	4736	c.3915A>T	c.(3913-3915)gaA>gaT	p.E1305D	BAI3_ENST00000238918.8_Missense_Mutation_p.E511D|BAI3_ENST00000546190.1_Missense_Mutation_p.E269D	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1305					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAATGATGGAAAGTGACTATA	0.388000													15	21					0	0	0.000308642	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883546	51883546	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:51883546C>T	ENST00000453097.2	+	19	2728	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	SLC4A8_ENST00000358657.3_Silent_p.I864I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	837					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTGCTCCATCATGGGCCTGC	0.532000													21	62					0	0	0.00278032	0	0
PLCZ1	89869	broad.mit.edu	37	12	18852779	18852779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:18852779C>T	ENST00000266505.7	-	10	1386	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	PLCZ1_ENST00000539875.1_Missense_Mutation_p.E182K|PLCZ1_ENST00000538330.1_Missense_Mutation_p.E157K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E373K|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E238K|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E180K			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	375	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAATTATTTTCATTAAATTGC	0.313000													27	63					0	0	0.00127121	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829085	96829085	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96829085C>T	ENST00000371270.3	-	1	169	c.75G>A	c.(73-75)agG>agA	p.R25R	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	25					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCTTCCTTCTCCTACAGCTCT	0.433000													20	16					0	0	0.00121646	0	0
CFAP54	144535	broad.mit.edu	37	12	97073486	97073486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:97073486G>A	ENST00000524981.3	+	7	1025	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q				Q6ZTY8	CL063_HUMAN		316										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGATCAATCCGACACAGCAGA	0.453000													40	82					0	0	0.00222228	0	0
CPED1	79974	broad.mit.edu	37	7	120884392	120884392	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:120884392G>A	ENST00000310396.5	+	18	2777	c.2310_splice	c.e18+1	p.K770_splice	CPED1_ENST00000423795.1_Splice_Site_p.K550_splice|CPED1_ENST00000450913.2_Splice_Site_p.K770_splice	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GAGGAAGGAAGGTAGGTTCTG	0.478000													12	39					0	0	0.00185496	0	0
RIMS2	9699	broad.mit.edu	37	8	105261748	105261748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:105261748G>A	ENST00000507740.1	+	20	3301	c.3065G>A	c.(3064-3066)gGa>gAa	p.G1022E	RIMS2_ENST00000436393.2_Missense_Mutation_p.G1226E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1208E|RIMS2_ENST00000339750.2_Missense_Mutation_p.G144E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G1047E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1270					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACAAAAAGGGACAGCTGGAG	0.403000										HNSCC(12;0.0054)			20	44					0	0	0.00229938	0	0
CHAD	1101	broad.mit.edu	37	17	48542684	48542684	+	Missense_Mutation	SNP	C	C	T	rs142153342		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48542684C>T	ENST00000508540.1	-	3	1207	c.1055G>A	c.(1054-1056)aGg>aAg	p.R352K	ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R352K|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	352					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TTTCTTGGACCTCTTGGTGGG	0.592000													19	22					0	0	0.00188189	0	0
DEFB115	245929	broad.mit.edu	37	20	29847306	29847306	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:29847306G>A	ENST00000400552.1	+	2	138	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	46					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGATGCAGGAAATCATGCA	0.328000													11	37					0	0	0.00185496	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000556	204000556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:204000556G>A	ENST00000449802.1	+	27	4216	c.3883G>A	c.(3883-3885)Gat>Aat	p.D1295N		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1295							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAAGACAATGATAAAAATAT	0.348000													159	305					0	0	0.000781405	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949646	34949646	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:34949646C>T	ENST00000360359.3	+	4	753	c.615C>T	c.(613-615)caC>caT	p.H205H	ANKS1A_ENST00000535627.1_Silent_p.H205H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	205						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTAATGCACACCCCAACCTCC	0.572000													29	85					0	0	0.001512	0	0
KIAA1549	57670	broad.mit.edu	37	7	138522763	138522763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:138522763G>A	ENST00000440172.1	-	20	5741	c.5693C>T	c.(5692-5694)tCc>tTc	p.S1898F	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1914F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1848F|TMEM213_ENST00000413208.1_Missense_Mutation_p.E102K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1914						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTCTTCCGTGGAGCTGGTGGG	0.647000			O	BRAF	pilocytic astrocytoma								7	3					0	0	0.000157383	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752225	15752225	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15752225G>A	ENST00000221307.7	+	0	48				CYP4F3_ENST00000586182.1_De_novo_Start_InFrame|CYP4F3_ENST00000585846.1_De_novo_Start_InFrame|CYP4F3_ENST00000591058.1_De_novo_Start_InFrame	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGCCCTGCAGGATGCCACAGC	0.677000													19	32					0	0	0.00152264	0	0
NWD1	284434	broad.mit.edu	37	19	16860421	16860421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:16860421G>A	ENST00000524140.2	+	6	1386	c.968G>A	c.(967-969)gGg>gAg	p.G323E	NWD1_ENST00000523826.1_Missense_Mutation_p.G117E|NWD1_ENST00000552788.1_Missense_Mutation_p.G323E|NWD1_ENST00000339803.6_Missense_Mutation_p.G188E|NWD1_ENST00000379808.3_Missense_Mutation_p.G323E|NWD1_ENST00000549814.1_Missense_Mutation_p.G323E	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	323							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCGGCTTGGGCAGCAGCTC	0.617000													13	33					0	0	0.000308642	0	0
LIPJ	142910	broad.mit.edu	37	10	90362355	90362355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:90362355C>T	ENST00000371939.3	+	9	1060	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	249					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GTGTATTTTTCACACAACCCA	0.313000													25	22					0	0	0.00283554	0	0
PHC3	80012	broad.mit.edu	37	3	169824618	169824618	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169824618A>G	ENST00000494943.1	-	12	2501		c.e12+1		PHC3_ENST00000467570.1_Splice_Site|PHC3_ENST00000495893.1_Splice_Site			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCACAGAAATACCTTTTGGCA	0.373000													14	30					0	0	0.00185496	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190814	17190814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:17190814G>A	ENST00000265970.7	-	1	474	c.475C>T	c.(475-477)Cct>Tct	p.P159S	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	159					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAGTAGAAGGATAAATAGAA	0.418000													24	58					0	0	0.000878237	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49344405	49344405	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:49344405C>T	ENST00000263265.6	-	17	2461		c.e17+1		PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCCCCTCACCCTTTGCTCC	0.617000													5	9					0	0	0.00116845	0	0
MYBPC2	4606	broad.mit.edu	37	19	50964891	50964891	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50964891C>T	ENST00000357701.5	+	25	3075	c.3024C>T	c.(3022-3024)acC>acT	p.T1008T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1008	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGTTTACACCGAGAACATCT	0.537000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	10					0	0	0.000602214	0	0
ACBD4	79777	broad.mit.edu	37	17	43216425	43216425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:43216425G>A	ENST00000431281.1	+	11	1194	c.725G>A	c.(724-726)tGg>tAg	p.W242*	ACBD4_ENST00000586346.1_Nonsense_Mutation_p.W242*|ACBD4_ENST00000591859.1_Nonsense_Mutation_p.W242*|ACBD4_ENST00000376955.4_Nonsense_Mutation_p.W226*|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000398322.3_Silent_p.L229L|ACBD4_ENST00000321854.8_Silent_p.L229L	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	226			R -> G (in dbSNP:rs16939879).				fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCCAGGAGTTGGACGTGTGGC	0.687000													29	29					0	0	0.00058488	0	0
PPBP	5473	broad.mit.edu	37	4	74853054	74853054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:74853054G>A	ENST00000296028.3	-	3	415	c.322C>T	c.(322-324)Cca>Tca	p.P108S		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	108					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGAGCATCTGGGTCCAGGCAG	0.423000													25	51					0	0	0.000720815	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481726	27481726	+	Missense_Mutation	SNP	C	C	T	rs141176570		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:27481726C>T	ENST00000233535.4	-	2	524	c.172G>A	c.(172-174)Gac>Aac	p.D58N	SLC30A3_ENST00000447008.2_Missense_Mutation_p.D53N	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	58					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGGGGTCCCTGTGGCAG	0.607000													9	34					0	0	0.000673444	0	0
KCNK13	56659	broad.mit.edu	37	14	90650698	90650698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:90650698C>T	ENST00000282146.4	+	2	1019	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	193						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGGAAGCCCTCCGTGTACTAC	0.627000													31	42					0	0	0.0024448	0	0
ANO5	203859	broad.mit.edu	37	11	22283727	22283727	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:22283727C>T	ENST00000324559.8	+	16	2000	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	561						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAAAATGTTCCTGTTTCAGT	0.323000													35	65					0	0	0.00111076	0	0
MIR548I1	100302204	broad.mit.edu	37	3	125509351	125509351	+	RNA	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:125509351T>C	ENST00000408810.1	-	0	44					NR_031687.1																						aatccgcaattacttttgcac	0.413000													23	37					0	0	0.000586117	0	0
OR51F2	119694	broad.mit.edu	37	11	4843204	4843204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4843204G>A	ENST00000322110.5	+	1	654	c.589G>A	c.(589-591)Gat>Aat	p.D197N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACCATGTTGATCTCATCCA	0.463000													50	96					0	0	0.000781405	0	0
ZNF346	23567	broad.mit.edu	37	5	176471497	176471497	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176471497G>A	ENST00000503039.1	+	5	559	c.555G>A	c.(553-555)aaG>aaA	p.K185K	ZNF346_ENST00000261948.4_Silent_p.K185K|ZNF346_ENST00000358149.3_Silent_p.K160K|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Silent_p.K128K|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000511834.1_Silent_p.K160K			Q9UL40	ZN346_HUMAN	zinc finger protein 346	160						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCACGCAAAGAACTTAAAGC	0.547000													21	75					0	0	0.00047179	0	0
SMARCA1	6594	broad.mit.edu	37	X	128605256	128605256	+	Silent	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:128605256T>C	ENST00000371122.4	-	20	2619	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	SMARCA1_ENST00000371123.1_Silent_p.E818E|SMARCA1_ENST00000371121.3_Silent_p.E818E	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	830					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTTTTGCTCTTCTCTTTGAG	0.343000													57	40					0	0	0.000781405	0	0
CD33	945	broad.mit.edu	37	19	51729165	51729165	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51729165G>A	ENST00000436584.2	+	2	199	c.144G>A	c.(142-144)ccG>ccA	p.P48P	CD33_ENST00000421133.2_Silent_p.P48P|CD33_ENST00000262262.4_Silent_p.P175P|CD33_ENST00000391796.3_Silent_p.P175P			P20138	CD33_HUMAN	CD33 molecule	175	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAACACCCCCGATCTTCTCCT	0.627000													23	46					0	0	0.00229938	0	0
PLEC	5339	broad.mit.edu	37	8	144998577	144998577	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144998577G>A	ENST00000322810.4	-	31	6100	c.5931C>T	c.(5929-5931)gcC>gcT	p.A1977A	PLEC_ENST00000398774.2_Silent_p.A1808A|PLEC_ENST00000356346.3_Silent_p.A1826A|PLEC_ENST00000357649.2_Silent_p.A1844A|PLEC_ENST00000345136.3_Silent_p.A1840A|PLEC_ENST00000527096.1_Silent_p.A1863A|PLEC_ENST00000354589.3_Silent_p.A1840A|PLEC_ENST00000354958.2_Silent_p.A1818A|PLEC_ENST00000436759.2_Silent_p.A1867A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1977	Central fibrous rod domain.				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						CGCCGATGGCGGCCAGCTTCT	0.741000													5	12					0	0	0.00116845	0	0
YTHDC2	64848	broad.mit.edu	37	5	112888986	112888986	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:112888986C>T	ENST00000161863.4	+	13	2010	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	YTHDC2_ENST00000515883.1_Silent_p.F599F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	599							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATCATAGTTTCGATGATGAAA	0.378000													9	36					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9088636	9088636	+	Missense_Mutation	SNP	C	C	T	rs148517753	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9088636C>T	ENST00000397910.4	-	1	3382	c.3179G>A	c.(3178-3180)gGa>gAa	p.G1060E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1060	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						AGCTGTGGTTCCAATGGGCAG	0.483000													44	67					0	0	0.000781405	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625386	43625386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43625386G>A	ENST00000332857.6	-	4	3329	c.3301C>T	c.(3301-3303)Ccc>Tcc	p.P1101S		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGAATAGGGGGAAACATTGGC	0.488000													62	141					0	0	0.000781405	0	0
GPR158	57512	broad.mit.edu	37	10	25701229	25701229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:25701229G>A	ENST00000376351.3	+	4	1521	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	388						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E388*(1)		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						TGTGTCAGAAGAAGCCTATGT	0.473000													38	97					0	0	0.00195071	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257013	140257013	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140257013G>A	ENST00000398631.2	+	1	1956	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGAAGGACCACGGTG	0.687000													9	34					0	0	0.000442599	0	0
DSG4	147409	broad.mit.edu	37	18	28989707	28989707	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:28989707G>A	ENST00000308128.4	+	14	2208		c.e14-1		RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4						homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTCTTTTCAGGATGTGTCAA	0.333000													13	33					0	0	0.00244969	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167741	140167741	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140167741C>T	ENST00000504120.2	+	1	1866	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.F622F	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.657000													25	43					0	0	0.000878237	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470942	53470942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:53470942G>A	ENST00000301463.4	-	2	213	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	SPRYD3_ENST00000547837.1_Nonsense_Mutation_p.Q80*	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	43	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AACCTCTCCTGATATCGGAAA	0.468000													23	48					0	0	0.000586117	0	0
HTT	3064	broad.mit.edu	37	4	3230432	3230432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:3230432C>T	ENST00000355072.5	+	58	8084	c.7939C>T	c.(7939-7941)Cct>Tct	p.P2647S		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2647					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ggCCGACGCCCCTGCACCTTC	0.517000													7	25					0	0	0.000157383	0	0
OR6T1	219874	broad.mit.edu	37	11	123814011	123814011	+	Missense_Mutation	SNP	G	G	A	rs140103246		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:123814011G>A	ENST00000321252.2	-	1	569	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAACTGTCACGAAAGAAGTGG	0.572000													15	20					0	0	0.000308642	0	0
ACKR3	57007	broad.mit.edu	37	2	237489660	237489660	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:237489660G>A	ENST00000272928.3	+	2	862	c.552G>A	c.(550-552)aaG>aaA	p.K184K		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		ACTACCTGAAGACCGTCACGT	0.592000													45	65					0	0	0.000781405	0	0
C10orf120	399814	broad.mit.edu	37	10	124459259	124459259	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124459259C>T	ENST00000329446.4	-	1	79	c.48G>A	c.(46-48)agG>agA	p.R16R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	16										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGTCACTAGCCCTCTGTTTTT	0.433000													16	40					0	0	0.00188189	0	0
MYOCD	93649	broad.mit.edu	37	17	12666750	12666750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:12666750C>T	ENST00000425538.1	+	14	2950	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.S869L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	869					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACACAGTTTTCACCCTCTTCT	0.522000													19	23					0	0	0.00229938	0	0
ZFP42	132625	broad.mit.edu	37	4	188924639	188924639	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:188924639C>T	ENST00000326866.4	+	4	1086	c.678C>T	c.(676-678)ttC>ttT	p.F226F	ZFP42_ENST00000509524.1_Silent_p.F226F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	226					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAAAGCGTTCGTTGAGAGCT	0.507000													22	65					0	0	0.00278032	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596214	24596214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:24596214G>A	ENST00000535378.1	-	4	1303	c.661C>T	c.(661-663)Cct>Tct	p.P221S	KIAA0319_ENST00000430948.2_Missense_Mutation_p.P185S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P230S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	230					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTCTCTCAGGGAGTTTTGGG	0.552000													12	49					0	0	0.000978159	0	0
REEP2	51308	broad.mit.edu	37	5	137780970	137780970	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:137780970C>T	ENST00000378339.2	+	6	663	c.471C>T	c.(469-471)acC>acT	p.T157T	REEP2_ENST00000254901.5_Silent_p.T155T|REEP2_ENST00000506158.1_Silent_p.T117T	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	155						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGACCTGACCCTGATCCGGG	0.692000													11	35					0	0	0.00185496	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73190268	73190268	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:73190268C>T	ENST00000545377.1	+	29	3885	c.3709C>T	c.(3709-3711)Ctg>Ttg	p.L1237L	ARHGEF28_ENST00000296794.6_Silent_p.L1237L|ARHGEF28_ENST00000512883.1_Silent_p.L201L|ARHGEF28_ENST00000426542.2_Silent_p.L1237L|ARHGEF28_ENST00000287898.5_Silent_p.L1237L|ARHGEF28_ENST00000513042.2_Silent_p.L1237L|ARHGEF28_ENST00000437974.1_Silent_p.L1237L|ARHGEF28_ENST00000296799.4_Silent_p.L924L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GGAGGAGAAGCTGCATATCTA	0.438000													4	21					0	0	0.00024832	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630529	43630529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43630529G>A	ENST00000332857.6	-	1	201	c.173C>T	c.(172-174)tCg>tTg	p.S58L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTCCCAGGCGATGGTGAGGG	0.463000													35	100					0	0	0.00222228	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431313	38431313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:38431313G>A	ENST00000322350.5	+	15	2435	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	EGFLAM_ENST00000354891.3_Missense_Mutation_p.E697K|EGFLAM_ENST00000397202.2_Missense_Mutation_p.E63K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E463K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	697	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAACTGGCACGAGCTTCGTGT	0.448000													11	39					0	0	0.000308642	0	0
ACSS3	79611	broad.mit.edu	37	12	81503382	81503382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:81503382C>T	ENST00000548058.1	+	2	1265	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	ACSS3_ENST00000261206.3_Missense_Mutation_p.R118C|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	119						mitochondrion	acetate-CoA ligase activity|ATP binding	p.R119C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGCCGTTGATCGTCATATTGA	0.338000													22	46					0	0	0.00229938	0	0
DLGAP2	9228	broad.mit.edu	37	8	1574988	1574988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:1574988C>T	ENST00000421627.2	+	4	1419	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	508					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGAAATTCCGCTCCCGGAA	0.617000													8	8					0	0	0.000442599	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091654	38091654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38091654C>T	ENST00000261439.4	+	13	2507	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R812C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	718						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGGACATCTCGTGAGCTCCG	0.488000													35	54					0	0	0.000953801	0	0
SLC6A13	6540	broad.mit.edu	37	12	369043	369043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:369043G>A	ENST00000343164.4	-	2	228	c.176C>T	c.(175-177)cCc>cTc	p.P59L	SLC6A13_ENST00000436453.1_Missense_Mutation_p.P59L|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P59L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	59					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCAGAGATAGGGAAACCTCCA	0.562000													42	91					0	0	0.000781405	0	0
QARS	5859	broad.mit.edu	37	3	49138819	49138819	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:49138819T>C	ENST00000306125.6	-	10	1182	c.845A>G	c.(844-846)aAa>aGa	p.K282R	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Silent_p.Q271Q|QARS_ENST00000414533.1_Missense_Mutation_p.K271R			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	282					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ATTGATGGCTTTGGCATGTCC	0.473000													21	16					0	0	0.00047179	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073510	74073510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:74073510C>T	ENST00000370367.3	+	3	634	c.581C>T	c.(580-582)tCc>tTc	p.S194F		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		ACCCAGCGATCCCCCGAAGCT	0.642000													10	19					0	0	0.00136819	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152181	151152181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:151152181C>T	ENST00000367328.1	+	16	2246	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P645L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	645					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGATGACTCCCTTTGGGTCA	0.458000													12	25					0	0	0.00244969	0	0
DNAJC8	22826	broad.mit.edu	37	1	28527822	28527822	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:28527822C>T	ENST00000263697.4	-	9	725	c.699G>A	c.(697-699)aaG>aaA	p.K233K	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	233					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCTCTTTCTTCCCCTTCG	0.493000													113	124					0	0	0.000781405	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795991	15795991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15795991C>T	ENST00000550308.1	+	9	1479	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P367S	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGACCGCGATCCTAAAGAGAT	0.562000													23	67					0	0	0.00209593	0	0
THSD7B	80731	broad.mit.edu	37	2	138030160	138030160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:138030160G>A	ENST00000409968.1	+	11	2502	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G775E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G744E					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGCCAATGGAGGCCAGGAA	0.388000													12	22					0	0	0.00136819	0	0
BCAN	63827	broad.mit.edu	37	1	156617345	156617345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156617345C>T	ENST00000329117.4	+	4	848	c.512C>T	c.(511-513)tCc>tTc	p.S171F	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.S171F	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	171	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TATGCTTTCTCCTTTTCTGGG	0.642000													7	20					0	0	0.000157383	0	0
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39227663C>T	ENST00000340369.3	-	2	3502	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602000													17	25					0	0	0.00188189	0	0
USH2A	7399	broad.mit.edu	37	1	215960078	215960078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:215960078C>T	ENST00000366943.2	-	52	10707	c.10321G>A	c.(10321-10323)Gaa>Aaa	p.E3441K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3441K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3441	Fibronectin type-III 19.				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)		CACATTTCTTCAATTGATGCC	0.453000										HNSCC(13;0.011)			26	61					0	0	0.0024448	0	0
SPRR4	163778	broad.mit.edu	37	1	152944375	152944375	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152944375C>T	ENST00000328051.2	+	2	58	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	3					keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAATGTCTTCCcagcagcagc	0.532000													29	47					0	0	0.00178596	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958766	111958766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111958766G>A	ENST00000305815.5	-	12	1619	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V	SLC9C1_ENST00000487372.1_Missense_Mutation_p.A408V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	456					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAATTTAAGGGCAGAGGCTGC	0.363000													18	45					0	0	0.000958276	0	0
JADE2	23338	broad.mit.edu	37	5	133895526	133895526	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:133895526C>T	ENST00000395003.1	+	5	497	c.318C>T	c.(316-318)ctC>ctT	p.L106L	PHF15_ENST00000282605.4_Silent_p.L106L|PHF15_ENST00000361895.2_Silent_p.L106L|PHF15_ENST00000402835.1_Silent_p.L106L	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		106					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGATCCTCCCACCACTGG	0.637000													4	25					0	0	0.000602214	0	0
PID1	55022	broad.mit.edu	37	2	230020561	230020561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:230020561C>T	ENST00000392054.3	-	3	582	c.243G>A	c.(241-243)atG>atA	p.M81I	PID1_ENST00000482518.2_5'UTR|PID1_ENST00000354069.6_Missense_Mutation_p.M83I|PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.M50I	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	83						cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCTTGTCTTCATCAGCGGTG	0.522000													21	54					0	0	0.000586117	0	0
ZNF554	115196	broad.mit.edu	37	19	2832352	2832352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:2832352C>T	ENST00000317243.5	+	4	503	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF554_ENST00000591265.1_Missense_Mutation_p.S102F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	102	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCACTTTCCCCAGCACAA	0.438000													40	98					0	0	0.00170553	0	0
MPP2	4355	broad.mit.edu	37	17	41975676	41975676	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:41975676A>C	ENST00000269095.4	-	3	408	c.104T>G	c.(103-105)tTc>tGc	p.F35C	MPP2_ENST00000523501.1_Missense_Mutation_p.F24C|MPP2_ENST00000377184.3_Missense_Mutation_p.F52C|MPP2_ENST00000518766.1_Missense_Mutation_p.F80C|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000536246.1_Missense_Mutation_p.F24C|MPP2_ENST00000461854.1_Missense_Mutation_p.F35C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	35	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GCCTCGAAGGAAGATCAGGTC	0.592000													28	43					0	0	0.00209593	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569278	129569278	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:129569278G>A	ENST00000389441.4	-	1	1267	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TMEM132D_ENST00000422113.2_Intron			Q14C87	T132D_HUMAN	transmembrane protein 132D	0						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AAAGGGGAGGGAAAGGTGAGC	0.527000													7	11					0	0	0.00198382	0	0
GHITM	27069	broad.mit.edu	37	10	85912039	85912039	+	Missense_Mutation	SNP	G	G	A	rs143660911	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:85912039G>A	ENST00000372134.3	+	9	1166	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	325					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TATCTACATGGATACATTAAA	0.333000													14	18					0	0	0.000422831	0	0
FCER1A	2205	broad.mit.edu	37	1	159275794	159275794	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159275794G>A	ENST00000368115.1	+	5	447	c.348G>A	c.(346-348)caG>caA	p.Q116Q	FCER1A_ENST00000368114.1_Silent_p.Q83Q	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	116	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGCTCCTTCAGGCCTCTGCTG	0.458000													11	22					0	0	0.00136819	0	0
C9orf153	389766	broad.mit.edu	37	9	88844513	88844513	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:88844513G>A	ENST00000339137.3	-	2	139	c.6C>T	c.(4-6)ttC>ttT	p.F2F	C9orf153_ENST00000376001.3_Silent_p.F2F|C9orf153_ENST00000469914.1_5'UTR	NM_001276367.1|NM_001276368.1	NP_001263296.1|NP_001263297.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	2										breast(1)|lung(1)	2						CTCCAGTGAGGAACATCGTGC	0.398000													16	41					0	0	0.000958276	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591056	234591056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:234591056C>T	ENST00000373426.3	+	1	473	c.473C>T	c.(472-474)gCc>gTc	p.A158V	UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTAATTGTTGCCAAATATTTC	0.438000													62	162					0	0	0.000781405	0	0
OR2A25	392138	broad.mit.edu	37	7	143771684	143771684	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143771684C>T	ENST00000408898.2	+	1	410	c.372C>T	c.(370-372)gcC>gcT	p.A124A		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGTACGTGGCCATCTGCCACC	0.478000													25	76					0	0	0.000720815	0	0
NACA	4666	broad.mit.edu	37	12	57112116	57112116	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:57112116G>A	ENST00000454682.1	-	3	3479	c.3198C>T	c.(3196-3198)tcC>tcT	p.S1066S	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTCCTTTTGGGGAGGGAAGAG	0.662000			T	BCL6	NHL								10	27					0	0	0.000673444	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924828	120924828	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:120924828A>T	ENST00000273666.6	+	10	1207	c.936A>T	c.(934-936)gaA>gaT	p.E312D	STXBP5L_ENST00000472879.1_Missense_Mutation_p.E312D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E312D|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E312D|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E312D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	312					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTAAAGTAGAATACAAGACCT	0.279000													27	44					0	0	0.00209593	0	0
DNAH11	8701	broad.mit.edu	37	7	21827025	21827025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:21827025G>A	ENST00000328843.6	+	61	9800	c.9769G>A	c.(9769-9771)Gat>Aat	p.D3257N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D3250N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3257	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAGGTTGATGATTTTTTGCA	0.343000									Kartagener syndrome				15	49					0	0	0.00152264	0	0
PRR16	51334	broad.mit.edu	37	5	120022286	120022286	+	Missense_Mutation	SNP	G	G	A	rs148660943		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:120022286G>A	ENST00000379551.2	+	3	1085	c.728G>A	c.(727-729)gGa>gAa	p.G243E	PRR16_ENST00000407149.2_Missense_Mutation_p.G266E|PRR16_ENST00000505123.1_Missense_Mutation_p.G196E|PRR16_ENST00000446965.1_Missense_Mutation_p.G196E	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	266	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)		GAAAATGGGGGAATGGGAATA	0.542000													11	26					0	0	0.00136819	0	0
MYH7B	57644	broad.mit.edu	37	20	33589751	33589751	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:33589751G>A	ENST00000262873.7	+	42	5895	c.5802_splice	c.e42-1	p.E1935_splice		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1893						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGCCCCCAGGAGCAGCAGGC	0.612000													19	46					0	0	0.00047179	0	0
DGKK	139189	broad.mit.edu	37	X	50136221	50136221	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:50136221G>A	ENST00000376025.2	-	0	1583							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATTTTCGGAGGAAGACGATCC	0.453000													17	7					0	0	0.00074312	0	0
TENM4	26011	broad.mit.edu	37	11	78412733	78412733	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:78412733A>G	ENST00000278550.7	-	28	5387	c.4925T>C	c.(4924-4926)cTg>cCg	p.L1642P		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGGGACCACCAGCCAGAGGGG	0.547000													11	18					0	0	0.00136819	0	0
FRY	10129	broad.mit.edu	37	13	32802675	32802675	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:32802675C>T	ENST00000380250.3	+	40	5785	c.5289C>T	c.(5287-5289)atC>atT	p.I1763I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTCTAGCATCAGTCTGGGAG	0.542000													35	82					0	0	0.00283554	0	0
ZAN	7455	broad.mit.edu	37	7	100350287	100350287	+	RNA	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100350287C>A	ENST00000542585.1	+	0	2707				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACCATCTCCACAGAAAAAC	0.493000													30	69					4.65686e-17	1.82168e-16	0.000692331	1	0
ZMYM4	9202	broad.mit.edu	37	1	35851166	35851166	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:35851166T>C	ENST00000314607.6	+	10	1773	c.1693T>C	c.(1693-1695)Tac>Cac	p.Y565H	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	565					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTATCTGCTTACAGAGTTAA	0.343000													18	53					0	0	0.00152264	0	0
NBEAL1	65065	broad.mit.edu	37	2	203976774	203976774	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:203976774G>T	ENST00000449802.1	+	15	2401	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	690							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTATGACAATGGACAACAGAA	0.418000													11	462					0.000978159	0.00378232	0.000978159	1	0
PSG5	5673	broad.mit.edu	37	19	43679591	43679591	+	Missense_Mutation	SNP	G	G	A	rs144866823		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43679591G>A	ENST00000404580.1	-	4	828	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG5_ENST00000342951.6_Missense_Mutation_p.S247L|PSG5_ENST00000366175.3_Missense_Mutation_p.S247L|PSG5_ENST00000599812.1_Missense_Mutation_p.S340L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.S247L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	247	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S247L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATAGGTGAATGAAGGGTAAAT	0.483000													52	136					0	0	0.000781405	0	0
TPTE2	93492	broad.mit.edu	37	13	20025365	20025365	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:20025365C>T	ENST00000400230.2	-	11	786	c.741_splice	c.e11-1	p.E248_splice	TPTE2_ENST00000255310.6_Splice_Site_p.E171_splice|TPTE2_ENST00000457266.2_Splice_Site_p.E137_splice|TPTE2_ENST00000400103.2_Splice_Site_p.E137_splice|TPTE2_ENST00000390680.2_Splice_Site_p.E171_splice|TPTE2_ENST00000382975.4_Splice_Site_p.E208_splice|TPTE2_ENST00000382978.1_Splice_Site_p.E208_splice|TPTE2_ENST00000382977.4_Splice_Site_p.E248_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	248	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGCACAACTTCCTAAAAAAGA	0.333000													13	42					0	0	0.000308642	0	0
TG	7038	broad.mit.edu	37	8	134031881	134031881	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:134031881A>T	ENST00000220616.4	+	39	6857	c.6817A>T	c.(6817-6819)Acg>Tcg	p.T2273S	TG_ENST00000377869.1_Missense_Mutation_p.T2216S|TG_ENST00000519543.1_Missense_Mutation_p.T406S|TG_ENST00000542445.1_Missense_Mutation_p.T643S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2273					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)		CAGAACATCCACGTCTCCTGG	0.527000													20	33					0	0	0.00278032	0	0
TSSC1	7260	broad.mit.edu	37	2	3341912	3341912	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:3341912G>A	ENST00000398659.4	-	3	275	c.135C>T	c.(133-135)atC>atT	p.I45I	TSSC1_ENST00000382125.4_Silent_p.I45I|TSSC1_ENST00000443925.2_Silent_p.I45I			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	45							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CAAAATCTATGATATGGATCT	0.388000													16	20					0	0	0.000422831	0	0
MTMR4	9110	broad.mit.edu	37	17	56581722	56581722	+	Missense_Mutation	SNP	G	G	A	rs144640723		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:56581722G>A	ENST00000323456.5	-	13	1551	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	MTMR4_ENST00000579925.1_Missense_Mutation_p.S476F	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	476	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGATGAACAGAATCAAGCCA	0.493000													42	51					0	0	0.00195071	0	0
TBCK	93627	broad.mit.edu	37	4	107165818	107165818	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:107165818G>A	ENST00000273980.4	-	12	1482	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	TBCK_ENST00000361687.4_Silent_p.I282I|TBCK_ENST00000394706.3_Silent_p.I306I|TBCK_ENST00000394708.2_Silent_p.I345I|TBCK_ENST00000432496.2_Silent_p.I345I			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	345						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TGGATCGAATGATTTCCTTGT	0.358000													45	74					0	0	0.000781405	0	0
MRPL20	55052	broad.mit.edu	37	1	1342368	1342368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:1342368C>T	ENST00000482352.1	-	2	191	c.119G>A	c.(118-120)aGg>aAg	p.R40K	MRPL20_ENST00000344843.7_Missense_Mutation_p.R40K			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	40							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GACCGCCAACCTGTAGCAGCG	0.592000													79	88					0	0	0.000781405	0	0
VPS8	23355	broad.mit.edu	37	3	184577778	184577778	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:184577778G>A	ENST00000287546.4	+	14	1320	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	VPS8_ENST00000446204.2_Silent_p.K381K|VPS8_ENST00000437079.3_Silent_p.K383K|VPS8_ENST00000436792.2_Silent_p.K381K	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	383							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCAGGTAAAGAGAGATGAAT	0.323000													16	33					0	0	0.00074312	0	0
FAM167A	83648	broad.mit.edu	37	8	11301779	11301779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11301779C>T	ENST00000284486.4	-	2	680	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	FAM167A_ENST00000528897.1_Missense_Mutation_p.E48K|FAM167A_ENST00000534308.1_Missense_Mutation_p.E48K	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	48										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GCCTGCCATTCCAGGTAGGAG	0.706000													17	37					0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9061272	9061272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9061272C>T	ENST00000397910.4	-	3	26377	c.26174G>A	c.(26173-26175)aGa>aAa	p.R8725K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8727	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						AGAAGCACTTCTCTCTGTTGC	0.512000													13	32					0	0	0.00244969	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188937	32188937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32188937G>A	ENST00000375023.3	-	4	755	c.617C>T	c.(616-618)cCc>cTc	p.P206L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	206	EGF-like 5; calcium-binding (Potential).		P -> L (in dbSNP:rs2071282).		cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTGCCTTTGGGGCAGGGTCC	0.652000													97	304					0	0	0.000781405	0	0
CES1	1066	broad.mit.edu	37	16	55862811	55862811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:55862811C>T	ENST00000422046.2	-	2	406	c.125G>A	c.(124-126)gGa>gAa	p.G42E	CES1_ENST00000361503.4_Missense_Mutation_p.G42E|CES1_ENST00000360526.3_Missense_Mutation_p.G43E			P23141	EST1_HUMAN	carboxylesterase 1	42					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGTGCAAATCCTTCTAAGCT	0.562000													6	31					0	0	0.00198382	0	0
FAM46D	169966	broad.mit.edu	37	X	79698637	79698637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:79698637C>T	ENST00000538312.1	+	5	933	c.599C>T	c.(598-600)cCt>cTt	p.P200L	FAM46D_ENST00000308293.5_Missense_Mutation_p.P200L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	200										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GAATCCTATCCTGTTGTGGTA	0.403000													22	15					0	0	0.00229938	0	0
PRB3	5544	broad.mit.edu	37	12	11420974	11420974	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:11420974C>T	ENST00000381842.3	-	0	246				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGGTGGGGGACCTTGGGACTG	0.627000													37	118					0	0	0.00170553	0	0
SGPL1	8879	broad.mit.edu	37	10	72633179	72633179	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:72633179C>T	ENST00000373202.3	+	12	1331	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	377					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	ATCAGTTCTTCGTCGATACAG	0.502000													38	47					0	0	0.00222228	0	0
ITIH2	3698	broad.mit.edu	37	10	7745462	7745462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:7745462C>T	ENST00000358415.4	+	1	231	c.65C>T	c.(64-66)cCc>cTc	p.P22L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.P22L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	22					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCGAAATCCCCATAAATGGA	0.413000													21	60					0	0	0.00188189	0	0
CPQ	10404	broad.mit.edu	37	8	97892214	97892214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:97892214G>A	ENST00000220763.5	+	4	1040	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	277					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GAGATCACTGGGAGCAAATAT	0.433000													41	103					0	0	0.00222228	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519598	113519598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:113519598C>T	ENST00000284601.3	-	4	1617	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	517					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTTCTTCATCATCCTTACCA	0.328000													15	45					0	0	0.000308642	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749041	33749041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:33749041G>A	ENST00000403687.3	+	8	1352	c.612G>A	c.(610-612)tgG>tgA	p.W204*	RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.W204*|RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.W204*	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	204	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TCTCTAAGTGGGTCCAGTTGA	0.428000													56	150					0	0	0.000781405	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:11187673G>A	ENST00000337414.4	-	9	2633	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000303025.6_Silent_p.I384I	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.I587I(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACAGCGATGATGGCCGTGC	0.493000													25	21					0	0	0.00047179	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811142	65811142	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:65811142G>A	ENST00000312006.4	-	3	413	c.132C>T	c.(130-132)ccC>ccT	p.P44P	GAL3ST3_ENST00000527878.1_Silent_p.P44P	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	44					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGAACAGCTTGGGGTACCTGC	0.662000													5	3					0	0	0.000157383	0	0
F7	2155	broad.mit.edu	37	13	113771786	113771786	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113771786G>A	ENST00000375581.3	+	8	716		c.e8-1		F7_ENST00000541084.1_Splice_Site|F7_ENST00000346342.3_Splice_Site	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)						anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCCCGCCCAGGTCCTGTTGT	0.557000													19	41					0	0	0.00188189	0	0
OR2J2	26707	broad.mit.edu	37	6	29142018	29142018	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29142018C>T	ENST00000377167.2	+	1	708	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCCTCATGGTCATGAGCTCCA	0.478000													28	117					0	0	0.000878237	0	0
PLOD2	5352	broad.mit.edu	37	3	145822082	145822082	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:145822082G>A	ENST00000282903.5	-	6	840	c.663C>T	c.(661-663)acC>acT	p.T221T	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.T166T|PLOD2_ENST00000360060.3_Silent_p.T221T	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	221					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTCCATTTAAGGTCTGGAAAA	0.328000													30	74					0	0	0.000814825	0	0
AKR1C1	1645	broad.mit.edu	37	10	5014477	5014477	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:5014477C>T	ENST00000380872.4	+	6	847	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Silent_p.L219L	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						CTATAGTGCTCTGGGATCCCA	0.408000													20	42					0	0	0.00188189	0	0
ZNF655	79027	broad.mit.edu	37	7	99169387	99169387	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:99169387T>A	ENST00000425063.1	+	4	401	c.299T>A	c.(298-300)cTa>cAa	p.L100Q	ZNF655_ENST00000493277.1_Silent_p.T71T|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000424881.1_Silent_p.T71T|ZNF655_ENST00000454654.1_Missense_Mutation_p.L100Q|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000252713.4_Intron			Q8N720	ZN655_HUMAN	zinc finger protein 655	0					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAACTAAGACTAGAGAAGTCT	0.428000													4	9					0	0	0.00116845	0	0
RPTN	126638	broad.mit.edu	37	1	152127456	152127456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152127456C>T	ENST00000316073.3	-	3	2183	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	707	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGCTCTTCCTCTGCCCAG	0.562000													54	117					0	0	0.000781405	0	0
TRHDE	29953	broad.mit.edu	37	12	73012704	73012704	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:73012704G>A	ENST00000261180.4	+	13	2316	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	740					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						TTCCTCTGGAGATTATCAGAT	0.388000													30	69					0	0	0.00178596	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220910	140220910	+	Missense_Mutation	SNP	G	G	A	rs111298048	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140220910G>A	ENST00000531613.1	+	1	4	c.4G>A	c.(4-6)Gat>Aat	p.D2N	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D2N	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTAACATGGATTATCACTG	0.473000													26	66					0	0	0.001512	0	0
GCLC	2729	broad.mit.edu	37	6	53363632	53363632	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:53363632T>A	ENST00000229416.6	-	16	2319	c.1836A>T	c.(1834-1836)ttA>ttT	p.L612F		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	612					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GGCATTCACATAATTCATTTG	0.338000													44	106					0	0	0.000680045	0	0
TSPAN32	10077	broad.mit.edu	37	11	2339110	2339110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:2339110C>T	ENST00000182290.4	+	10	1056	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	TSPAN32_ENST00000451520.2_Missense_Mutation_p.R296C|TSPAN32_ENST00000381121.3_Missense_Mutation_p.S246L	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	307					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		gggcagaagtcgcggtgggct	0.587000													7	16					0	0	0.000673444	0	0
LPA	4018	broad.mit.edu	37	6	160963746	160963746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:160963746C>T	ENST00000447678.1	-	35	5613	c.5493G>A	c.(5491-5493)tgG>tgA	p.W1831*	LPA_ENST00000316300.5_Nonsense_Mutation_p.W1831*|LPA_ENST00000484276.1_5'UTR	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4339	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTTGCCAGGGCCAGGAATGTG	0.507000													19	47					0	0	0.00121646	0	0
E2F1	1869	broad.mit.edu	37	20	32264940	32264940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:32264940G>A	ENST00000343380.5	-	6	1176	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	346	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGACTGGCTGGGATCTGTGGT	0.637000													10	29					0	0	0.00136819	0	0
OBSCN	84033	broad.mit.edu	37	1	228473846	228473846	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:228473846C>T	ENST00000570156.2	+	39	10433	c.10359C>T	c.(10357-10359)ttC>ttT	p.F3453F	OBSCN_ENST00000422127.1_Silent_p.F3024F|OBSCN_ENST00000284548.11_Silent_p.F3024F|OBSCN_ENST00000366709.4_Silent_p.F143F|OBSCN_ENST00000366707.4_Silent_p.F143F|OBSCN_ENST00000359599.6_Silent_p.F1871F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2488	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCACCTTCCGTTGCCGGA	0.632000													6	10					0	0	0.00198382	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95454674	95454674	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:95454674G>A	ENST00000359204.4	-	5	437	c.240C>T	c.(238-240)ttC>ttT	p.F80F	FRA10AC1_ENST00000371430.2_Silent_p.F80F|FRA10AC1_ENST00000536233.1_Silent_p.F80F|FRA10AC1_ENST00000394100.2_Silent_p.F80F	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	80						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AGTCATTTACGAACTTTGTAT	0.333000													52	83					0	0	0.000781405	0	0
MAATS1	89876	broad.mit.edu	37	3	119466664	119466664	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:119466664C>T	ENST00000273390.5	+	16	2135	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TTAGCCGAACCTATCTTCAGT	0.343000													18	26					0	0	0.00152264	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502338	220502338	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:220502338C>T	ENST00000358055.3	+	17	3083	c.2571C>T	c.(2569-2571)ccC>ccT	p.P857P	SLC4A3_ENST00000373760.2_Silent_p.P857P|SLC4A3_ENST00000273063.6_Silent_p.P884P|SLC4A3_ENST00000317151.3_Silent_p.P857P|SLC4A3_ENST00000373762.3_Silent_p.P884P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	857	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTTCTACCCCCCTGAGGGGG	0.637000													8	22					0	0	0.000157383	0	0
DYNAP	284254	broad.mit.edu	37	18	52262317	52262317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:52262317G>A	ENST00000321600.1	+	2	329	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		TCTACAGTCAGAATCCTGTAA	0.433000													34	84					0	0	0.00111076	0	0
DNAH3	55567	broad.mit.edu	37	16	21115824	21115824	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21115824C>T	ENST00000261383.3	-	16	2333	c.2334G>A	c.(2332-2334)aaG>aaA	p.K778K	DNAH3_ENST00000415178.1_Silent_p.K778K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	778	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTGATCCCTCTTGTGAAGGA	0.473000													55	141					0	0	0.000781405	0	0
PXDNL	137902	broad.mit.edu	37	8	52359645	52359645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:52359645C>T	ENST00000356297.4	-	12	1544	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D482N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	482	Ig-like C2-type 3.				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)				TGGCCTTGATCGTGCTGTGCT	0.473000													41	98					0	0	0.000781405	0	0
TRIM69	140691	broad.mit.edu	37	15	45047536	45047536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:45047536G>A	ENST00000559390.1	+	3	1373	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.E149K|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	149	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCAGTCTAAGGAGTTCCTGCA	0.473000													14	18					0	0	0.00244969	0	0
PDLIM5	10611	broad.mit.edu	37	4	95494539	95494539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:95494539C>T	ENST00000317968.4	+	4	422	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	PDLIM5_ENST00000450793.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000538141.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000437932.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000514743.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000508216.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000318007.5_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000380180.3_Nonsense_Mutation_p.Q96*	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	96					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTCCTGTTCAAAAGGTGTG	0.383000													33	74					0	0	0.000692331	0	0
SPTBN4	57731	broad.mit.edu	37	19	40993709	40993709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:40993709G>A	ENST00000352632.3	+	3	361	c.275G>A	c.(274-276)gGc>gAc	p.G92D	SPTBN4_ENST00000338932.3_Missense_Mutation_p.G92D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G92D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G92D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G92D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	92	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCGGGACGGCTTCGTGCTC	0.672000													12	30					0	0	0.00136819	0	0
SEZ6L	23544	broad.mit.edu	37	22	26694973	26694973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26694973C>T	ENST00000529632.2	+	5	1382	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	SEZ6L_ENST00000360929.3_Missense_Mutation_p.P396S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P396S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P396S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P396S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P169S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P169S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	396	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCAACTTTCCCCGCCGGCC	0.592000													14	28					0	0	0.000566183	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648426	15648426	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15648426C>T	ENST00000269703.2	+	6	701	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	CYP4F22_ENST00000601005.2_Silent_p.L168L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	168						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CTTTGACATCCTGAAGCCTTA	0.567000													24	66					0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	9046066	9046066	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9046066C>T	ENST00000397910.4	-	5	35768	c.35565G>A	c.(35563-35565)ggG>ggA	p.G11855G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11857	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						TGGTTTCTGTCCCTGGATGGG	0.488000													31	66					0	0	0.00209593	0	0
ARMC4	55130	broad.mit.edu	37	10	28273152	28273152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:28273152C>T	ENST00000305242.5	-	5	735	c.643G>A	c.(643-645)Gga>Aga	p.G215R	ARMC4_ENST00000239715.3_Missense_Mutation_p.G72R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	215							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTGGTTTCCTTTTCCTGAG	0.308000													46	125					0	0	0.000781405	0	0
ENAM	10117	broad.mit.edu	37	4	71510045	71510045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71510045G>A	ENST00000396073.3	+	9	3183	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	968					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGGCCAAAAGGAAATTATGCC	0.433000													19	64					0	0	0.00152264	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192458	133192458	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133192458G>A	ENST00000388996.4	-	4	1143	c.723C>T	c.(721-723)gaC>gaT	p.D241D	KCNQ3_ENST00000521134.1_Silent_p.D121D|KCNQ3_ENST00000519445.1_Silent_p.D241D	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	241					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACCTCTCCGGTCCATCCGCA	0.602000													14	52					0	0	0.00185496	0	0
ZNF555	148254	broad.mit.edu	37	19	2853213	2853213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:2853213C>T	ENST00000334241.4	+	4	1288	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Nonsense_Mutation_p.R383*	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTCCTTTCGAAGACATGA	0.478000													9	23					0	0	0.000442599	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173185	207173185	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:207173185G>A	ENST00000374423.3	+	5	4319	c.3933G>A	c.(3931-3933)agG>agA	p.R1311R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1311							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATCTTTTGAGGGAGGAACATG	0.363000													12	32					0	0	0.00185496	0	0
MED13L	23389	broad.mit.edu	37	12	116445418	116445418	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:116445418C>A	ENST00000281928.3	-	11	2242	c.2036G>T	c.(2035-2037)cGg>cTg	p.R679L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	679					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.R679L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GATTTTAAACCGTTTGTTAGG	0.368000													6	138					0.00198382	0.00762708	0.00198382	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558795	140558795	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140558795C>T	ENST00000239444.2	+	1	1425	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		394	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTTCCTCCTGAAATCTTC	0.458000													26	110					0	0	0.00047179	0	0
SCAF1	58506	broad.mit.edu	37	19	50149840	50149840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50149840C>T	ENST00000360565.3	+	5	443	c.319C>T	c.(319-321)Ccg>Tcg	p.P107S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	107					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCTGGATCCCCCGGATACCTG	0.657000													21	37					0	0	0.000586117	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724243	7724243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:7724243G>A	ENST00000303635.7	+	9	1843	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E546K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATGGCCAAAGAAGCGTACTC	0.682000			T	WWTR1	epitheliod hemangioendothelioma								27	12					0	0	0.00178596	0	0
FAM135B	51059	broad.mit.edu	37	8	139190802	139190802	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:139190802G>A	ENST00000395297.1	-	10	1175	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	335								p.L335L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTCCTGGGTGAGATAAGTGG	0.498000										HNSCC(54;0.14)			17	37					0	0	0.00152264	0	0
ANK1	286	broad.mit.edu	37	8	41519069	41519069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:41519069C>T	ENST00000396942.1	-	42	5716	c.5633G>A	c.(5632-5634)gGg>gAg	p.G1878E	RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.G128E|ANK1_ENST00000352337.4_Missense_Mutation_p.G1831E|ANK1_ENST00000522231.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000396945.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.G1853E			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TAGGCCACTCCCTCTCAGCTC	0.607000													17	54					0	0	0.00229938	0	0
CHTOP	26097	broad.mit.edu	37	1	153617696	153617696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153617696C>T	ENST00000368694.3	+	6	1010	c.698C>T	c.(697-699)gCt>gTt	p.A233V	CHTOP_ENST00000403433.1_Missense_Mutation_p.A187V|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368687.1_Missense_Mutation_p.A208V|CHTOP_ENST00000368690.3_Missense_Mutation_p.A187V	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						CACCTGGATGCTGAGTTGGAT	0.502000													21	40					0	0	0.00229938	0	0
COL6A6	131873	broad.mit.edu	37	3	130285619	130285619	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:130285619C>T	ENST00000358511.6	+	4	1387	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	COL6A6_ENST00000453409.2_Silent_p.F452F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	452	Nonhelical region.|VWFA 3.				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						CCACAGATTTCCATGAAATGA	0.498000													19	55					0	0	0.00074312	0	0
RBM44	375316	broad.mit.edu	37	2	238738075	238738075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:238738075C>T	ENST00000316997.4	+	13	2951	c.2819C>T	c.(2818-2820)tCt>tTt	p.S940F	RBM44_ENST00000409864.1_Missense_Mutation_p.S940F	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	939							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)		TTCTCCATTTCTAGATTGCCC	0.413000													41	107					0	0	0.00195071	0	0
OR52D1	390066	broad.mit.edu	37	11	5510709	5510709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5510709C>T	ENST00000322641.5	+	1	795	c.773C>T	c.(772-774)gCc>gTc	p.A258V	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACATCCCTGCCTTCTTCTCC	0.517000													27	44					0	0	0.00106085	0	0
GPR98	84059	broad.mit.edu	37	5	89989931	89989931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:89989931C>T	ENST00000405460.2	+	33	7454	c.7358C>T	c.(7357-7359)tCa>tTa	p.S2453L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2453					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGCGTTTTCATTTTTCAGT	0.493000													16	17					0	0	0.00074312	0	0
SHANK2	22941	broad.mit.edu	37	11	70333102	70333102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:70333102G>A	ENST00000338508.4	-	32	3298	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	SHANK2_ENST00000423696.2_Missense_Mutation_p.S720F|SHANK2_ENST00000449833.2_Missense_Mutation_p.S504F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S503F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	720					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAAGGCCGGGGAGTTCCTCCT	0.697000													9	12					0	0	0.000274275	0	0
PPT1	5538	broad.mit.edu	37	1	40557736	40557736	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:40557736A>G	ENST00000433473.3	-	3	807	c.343T>C	c.(343-345)Tcc>Ccc	p.S115P	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	115					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTCCCTGGGAGAATCCCATA	0.388000													34	63					0	0	0.00128727	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143846	91143846	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:91143846A>G	ENST00000371809.3	+	2	856	c.776A>G	c.(775-777)aAg>aGg	p.K259R	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	259							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TATGCAGCCAAGTTTTATCGA	0.443000													51	71					0	0	0.000781405	0	0
FAM160B1	57700	broad.mit.edu	37	10	116606378	116606378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:116606378C>T	ENST00000369248.4	+	11	1794	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L487F	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	487										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAGCACATTCTTTACAACTT	0.308000													21	19					0	0	0.00152264	0	0
SCAI	286205	broad.mit.edu	37	9	127828290	127828290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:127828290C>T	ENST00000373549.4	-	3	204	c.146G>A	c.(145-147)aGa>aAa	p.R49K	SCAI_ENST00000336505.5_Intron	NM_173690.4	NP_775961.2	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	32	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						atgttgatatctttccccttg	0.294000													59	84					0	0	0.000781405	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532997	84532997	+	RNA	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:84532997T>C	ENST00000527857.1	+	0	3019					NR_026851.1																						TCTCCTCACCTATTGGCAAAG	0.478000													33	29					0	0	0.00148497	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830535	7830535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:7830535C>T	ENST00000327325.5	+	4	344	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	CLEC4M_ENST00000359059.5_Missense_Mutation_p.P55S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.P76S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P55S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P48S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.P48S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P64S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P76S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P55S|CLEC4M_ENST00000357361.2_Missense_Mutation_p.P76S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	76					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTCCAAGGTCCCCAGCTCCCT	0.498000													16	69					0	0	0.000958276	0	0
ANO2	57101	broad.mit.edu	37	12	5848555	5848555	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:5848555G>A	ENST00000327087.8	-	13	1421	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	ANO2_ENST00000356134.5_Silent_p.F451F|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Silent_p.F451F			Q9NQ90	ANO2_HUMAN	anoctamin 2	455						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTTTCCAGGAACATGGTAG	0.438000													7	10					0	0	0.00198382	0	0
SERAC1	84947	broad.mit.edu	37	6	158535902	158535902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:158535902G>A	ENST00000367104.3	-	15	1734	c.1603C>T	c.(1603-1605)Cat>Tat	p.H535Y	SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	535					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGTGATCCATGATGAGGGACA	0.383000													74	174					0	0	0.000781405	0	0
ZNF728	388523	broad.mit.edu	37	19	23159500	23159500	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:23159500G>A	ENST00000594710.1	-	4	784	c.639C>T	c.(637-639)tcC>tcT	p.S213S		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TAAGGGCTGAGGACCAGTTAA	0.368000													12	36					0	0	0.00136819	0	0
ACACA	31	broad.mit.edu	37	17	35578713	35578713	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:35578713G>A	ENST00000353139.5	-	29	4096	c.3615C>T	c.(3613-3615)caC>caT	p.H1205H	ACACA_ENST00000360679.3_Silent_p.H1110H|ACACA_ENST00000335166.5_Silent_p.H1090H|ACACA_ENST00000394406.2_Silent_p.H1168H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1168					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAAGCTGGCGGTGTTGTACGC	0.438000													21	77					0	0	0.00229938	0	0
OR9A4	130075	broad.mit.edu	37	7	141619260	141619260	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141619260G>A	ENST00000548136.1	+	1	644	c.585G>A	c.(583-585)acG>acA	p.T195T	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTCTTTTCACGGAGTTTATCC	0.388000													39	113					0	0	0.00128727	0	0
QRICH2	84074	broad.mit.edu	37	17	74287969	74287969	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:74287969A>T	ENST00000262765.5	-	4	2520	c.2341T>A	c.(2341-2343)Tat>Aat	p.Y781N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	781							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCATGCAAATATGCACCAGGT	0.502000													52	143					0	0	0.000781405	0	0
OR2F1	26211	broad.mit.edu	37	7	143657982	143657982	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143657982A>G	ENST00000392899.1	+	1	956	c.919A>G	c.(919-921)Aaa>Gaa	p.K307E		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	307					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)					ACTATTATGGAAATTCTCTGG	0.433000													14	48					0	0	0.00185496	0	0
BCR	613	broad.mit.edu	37	22	23524071	23524071	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:23524071C>T	ENST00000305877.8	+	1	1675	c.924C>T	c.(922-924)cgC>cgT	p.R308R	BCR_ENST00000398512.5_Silent_p.R308R|BCR_ENST00000359540.3_Silent_p.R308R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	308	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGGAGAAGCGCCTTACCTGGC	0.642000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								10	19					0	0	0.000673444	0	0
SLC34A1	6569	broad.mit.edu	37	5	176812783	176812783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176812783C>T	ENST00000324417.5	+	2	132	c.41C>T	c.(40-42)tCc>tTc	p.S14F	SLC34A1_ENST00000512593.1_Missense_Mutation_p.S14F	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	14					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCTGTCTCCCCACTCCCA	0.622000													8	17					0	0	0.000442599	0	0
OR52A5	390054	broad.mit.edu	37	11	5152977	5152977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5152977G>A	ENST00000307388.1	-	1	895	c.896C>T	c.(895-897)aCc>aTc	p.T299I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATTTGCTTGGTCTTCACTCC	0.363000													15	50					0	0	0.000422831	0	0
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:3126851G>A	ENST00000356443.4	-	19	3172	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_ENST00000261606.7_Missense_Mutation_p.R851C|MYOM1_ENST00000400569.3_Missense_Mutation_p.R947C|MYOM1_ENST00000582016.1_5'UTR	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	947	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle	p.R947C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423000													5	15					0	0	0.00116845	0	0
LRP1	4035	broad.mit.edu	37	12	57597059	57597059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:57597059G>A	ENST00000243077.3	+	69	11273	c.10807G>A	c.(10807-10809)Ggc>Agc	p.G3603S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3603	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCGCGGACGGCTCGGACGA	0.672000													5	9					0	0	0.000602214	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352659	92352659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:92352659G>A	ENST00000276609.3	+	8	1145	c.906G>A	c.(904-906)atG>atA	p.M302I	SLC26A7_ENST00000309536.2_Missense_Mutation_p.M302I|SLC26A7_ENST00000523719.1_Missense_Mutation_p.M302I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	302						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTCCCCCGATGAACATCCTCT	0.438000													29	68					0	0	0.00283554	0	0
OR7G3	390883	broad.mit.edu	37	19	9237102	9237102	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9237102G>A	ENST00000305444.2	-	1	524	c.525C>T	c.(523-525)ccC>ccT	p.P175P		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAAAAAGTGGGGAATTTCCA	0.488000													16	48					0	0	0.000308642	0	0
FTSJ3	117246	broad.mit.edu	37	17	61903470	61903470	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:61903470A>G	ENST00000427159.2	-	5	891	c.246T>C	c.(244-246)ccT>ccC	p.P82P		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	82					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CATTGGGGAGAGGCTTGATTG	0.468000													97	104					0	0	0.000781405	0	0
KLF7	8609	broad.mit.edu	37	2	207953206	207953206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:207953206G>A	ENST00000309446.6	-	3	1209	c.833C>T	c.(832-834)cCc>cTc	p.P278L	KLF7_ENST00000458272.1_Missense_Mutation_p.P88L|KLF7_ENST00000421199.1_Missense_Mutation_p.P245L|KLF7_ENST00000423015.1_Missense_Mutation_p.P211S|KLF7_ENST00000412414.2_Missense_Mutation_p.P250L|KLF7_ENST00000467833.1_5'UTR	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	278					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GCATTTGAAGGGCTTTGCACC	0.537000													25	70					0	0	0.000586117	0	0
B3GNT4	79369	broad.mit.edu	37	12	122690864	122690864	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:122690864G>A	ENST00000546192.1	+	2	121		c.e2-1		B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000324189.4_Splice_Site|B3GNT4_ENST00000545141.1_Intron			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4						protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCTCCTTGCAGGGACCGGCGA	0.662000													11	23					0	0	0.00136819	0	0
CDK20	23552	broad.mit.edu	37	9	90584726	90584726	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:90584726G>A	ENST00000375883.3	-	5	915	c.609C>T	c.(607-609)aaC>aaT	p.N203N	CDK20_ENST00000336654.5_Silent_p.N216N|CDK20_ENST00000325303.8_Silent_p.N224N|CDK20_ENST00000605159.1_Silent_p.N203N|CDK20_ENST00000375871.4_Intron	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	224	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AGACTTGAGGGTTTGGGGTGC	0.567000													14	48					0	0	0.000308642	0	0
HAP1	9001	broad.mit.edu	37	17	39881380	39881380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39881380C>T	ENST00000393939.2	-	10	1367	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R461Q|HAP1_ENST00000310778.5_Missense_Mutation_p.R530Q|HAP1_ENST00000347901.4_Missense_Mutation_p.R478Q			P54257	HAP1_HUMAN	huntingtin-associated protein 1	477	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CACCTGCTCTCGATCCTCACT	0.607000													92	121					0	0	0.000781405	0	0
C2orf71	388939	broad.mit.edu	37	2	29293647	29293647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:29293647C>T	ENST00000331664.5	-	1	3480	c.3481G>A	c.(3481-3483)Gaa>Aaa	p.E1161K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1161					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCAGCATTCTGCTGGGTTC	0.622000													14	22					0	0	0.00244969	0	0
TRANK1	9881	broad.mit.edu	37	3	36874203	36874203	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:36874203C>G	ENST00000429976.2	-	21	6986	c.6739G>C	c.(6739-6741)Gaa>Caa	p.E2247Q	TRANK1_ENST00000301807.6_Missense_Mutation_p.E1697Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1697Q			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2247					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						TTGAGGATTTCTTTGCATGCC	0.433000													35	28					0	0	0.00222228	0	0
TSNARE1	203062	broad.mit.edu	37	8	143412303	143412303	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:143412303G>A	ENST00000519651.1	-	4	298	c.195C>T	c.(193-195)tcC>tcT	p.S65S	TSNARE1_ENST00000520166.1_Silent_p.S284S|TSNARE1_ENST00000307180.3_Silent_p.S284S|TSNARE1_ENST00000524325.1_Silent_p.S284S			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	284					vesicle-mediated transport	integral to membrane		p.S284S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGTCCCTAAGGACTGAAGGC	0.627000													9	32					0	0	0.00136819	0	0
PRB3	5544	broad.mit.edu	37	12	11420818	11420818	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:11420818C>T	ENST00000381842.3	-	0	402				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGGGGTGGTCCTTCTGGCTT	0.637000													36	65					0	0	0.000781405	0	0
MAGI1	9223	broad.mit.edu	37	3	65439006	65439006	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:65439006C>T	ENST00000330909.8	-	6	968	c.969G>A	c.(967-969)acG>acA	p.T323T	MAGI1_ENST00000402939.2_Silent_p.T323T|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Silent_p.T323T|MAGI1_ENST00000483466.1_Silent_p.T323T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	323	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATGTTGTTTTCGTGTTATGGC	0.403000													38	80					0	0	0.00148497	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785896	11785896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:11785896G>A	ENST00000356957.3	-	9	1338	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	TXNDC11_ENST00000283033.5_Nonsense_Mutation_p.Q384*			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	411					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCACCACCTGGTCCCCATGA	0.617000													15	20					0	0	0.000566183	0	0
COL5A2	1290	broad.mit.edu	37	2	189931166	189931166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:189931166G>A	ENST00000374866.3	-	23	1787	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	505					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCACCTCTGGGACCTCTTTTG	0.483000													77	122					0	0	0.000781405	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888155	12888155	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:12888155G>A	ENST00000379672.5	+	20	2547	c.2247G>A	c.(2245-2247)tcG>tcA	p.S749S	ARHGAP44_ENST00000340825.3_Silent_p.S743S|ARHGAP44_ENST00000262444.9_Silent_p.S749S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	749					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TAAACCTCTCGGCCTCTAGTC	0.567000													13	21					0	0	0.00244969	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061655	13061655	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13061655A>G	ENST00000014914.5	+	2	1362	c.472A>G	c.(472-474)Aat>Gat	p.N158D	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	158						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCTGACCATGAATAGGACCAA	0.517000													57	145					0	0	0.000781405	0	0
MRAP2	112609	broad.mit.edu	37	6	84765138	84765138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84765138C>T	ENST00000257776.4	+	2	236	c.101C>T	c.(100-102)tCc>tTc	p.S34F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	34					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACCAGTTTCCTTTGAAGGA	0.373000													17	40					0	0	0.000958276	0	0
NCOR2	9612	broad.mit.edu	37	12	124831144	124831144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:124831144G>A	ENST00000356219.3	-	32	4501	c.4346C>T	c.(4345-4347)gCc>gTc	p.A1449V	NCOR2_ENST00000429285.2_Missense_Mutation_p.A1432V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A1442V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A1432V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A1433V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1003V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1450					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGGCCGCGGGGCCAGGGGCAG	0.731000													4	9					0	0	0.00024832	0	0
PRSS38	339501	broad.mit.edu	37	1	228033728	228033728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:228033728G>A	ENST00000366757.3	+	5	824	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGGGGCCGAGGCTGCTCC	0.512000													18	30					0	0	0.00074312	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													6	25					0	0	0.00116845	0	0
BTBD1	53339	broad.mit.edu	37	15	83718904	83718904	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:83718904A>G	ENST00000261721.4	-	3	787	c.585T>C	c.(583-585)ctT>ctC	p.L195L	BTBD1_ENST00000379403.2_Silent_p.L195L|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	195						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		AAAGACTAGCAAGCTGAGGTT	0.308000													46	24					0	0	0.000781405	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989510	121989510	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:121989510G>A	ENST00000263707.5	-	13	1330	c.1233C>T	c.(1231-1233)acC>acT	p.T411T		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	411					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCAGCTCCAAGGTGGTCAGCT	0.597000													19	56					0	0	0.00229938	0	0
FAM127A	8933	broad.mit.edu	37	X	134166497	134166497	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:134166497C>T	ENST00000257013.7	+	1	165	c.84C>T	c.(82-84)ccC>ccT	p.P28P	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	28										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					ACCCGATTCCCTTTCCCGAGA	0.632000													28	16					0	0	0.001512	0	0
OR2H1	26716	broad.mit.edu	37	6	29430458	29430458	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29430458G>A	ENST00000377136.1	+	4	1377	c.912G>A	c.(910-912)ggG>ggA	p.G304G	OR2H1_ENST00000396792.2_Silent_p.G304G|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Silent_p.G304G|OR2H1_ENST00000377133.1_Silent_p.G304G|OR2H1_ENST00000442615.1_Silent_p.G304G			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GGTTACTAGGGAAGGAAAGAG	0.433000													10	47					0	0	0.00136819	0	0
TSSK2	23617	broad.mit.edu	37	22	19119524	19119524	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:19119524G>A	ENST00000399635.2	+	1	1204	c.612G>A	c.(610-612)gtG>gtA	p.V204V	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	204	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCCTGGGCGTGATCCTGTACA	0.597000													19	51					0	0	0.000958276	0	0
SLC44A5	204962	broad.mit.edu	37	1	75681480	75681480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:75681480C>T	ENST00000370855.5	-	19	1800	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	SLC44A5_ENST00000370859.3_Missense_Mutation_p.E563K|SLC44A5_ENST00000535611.1_Missense_Mutation_p.E433K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	563						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATTGCATTTTCCAAACACCAG	0.338000													28	74					0	0	0.000692331	0	0
SLC6A15	55117	broad.mit.edu	37	12	85277535	85277535	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:85277535T>A	ENST00000450363.3	-	5	1317	c.859A>T	c.(859-861)Act>Tct	p.T287S	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Intron|SLC6A15_ENST00000552192.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	0					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TAGAATGAAGTGTTATGTGTG	0.328000													11	40					0	0	0.000422831	0	0
NLRC4	58484	broad.mit.edu	37	2	32475575	32475575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:32475575C>T	ENST00000404025.2	-	5	1846	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R453Q|NLRC4_ENST00000402280.1_Missense_Mutation_p.R453Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	453	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.R453Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTGAGTCTTCGTCCTGCTGT	0.448000													22	56					0	0	0.00127121	0	0
UCK1	83549	broad.mit.edu	37	9	134404515	134404515	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:134404515C>T	ENST00000372215.4	-	4	601	c.508_splice	c.e4+1	p.V170_splice	UCK1_ENST00000372211.3_Splice_Site_p.V175_splice|UCK1_ENST00000372208.3_Splice_Site_p.D170_splice|UCK1_ENST00000372210.3_Splice_Site_p.V161_splice|UCK1_ENST00000459858.1_5'UTR	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	170					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCGCCTTACCTCTTCGAGAC	0.657000													18	19					0	0	0.00188189	0	0
GP1BA	2811	broad.mit.edu	37	17	4836164	4836164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:4836164G>A	ENST00000329125.5	+	2	340	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	89										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GCTCCAGGTCGATGGGACGCT	0.587000													29	17					0	0	0.00178596	0	0
POLQ	10721	broad.mit.edu	37	3	121251894	121251894	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121251894G>A	ENST00000264233.5	-	6	1031	c.903C>T	c.(901-903)tcC>tcT	p.S301S	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	301					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGTCATATATGGAATTTCCAA	0.393000								DNA polymerases (catalytic subunits)					19	46					0	0	0.00121646	0	0
FLNA	2316	broad.mit.edu	37	X	153583356	153583356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:153583356G>A	ENST00000422373.1	-	30	5278	c.5030C>T	c.(5029-5031)aCg>aTg	p.T1677M	FLNA_ENST00000360319.4_Missense_Mutation_p.T1677M|FLNA_ENST00000369850.3_Missense_Mutation_p.T1685M|FLNA_ENST00000369856.3_De_novo_Start_InFrame|FLNA_ENST00000344736.4_Missense_Mutation_p.T1677M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1685					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGGTGCACGTCACTTTGCC	0.622000											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	14					0	0	0.00229938	0	0
STK31	56164	broad.mit.edu	37	7	23825120	23825120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:23825120G>A	ENST00000354639.3	+	18	2567	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	STK31_ENST00000433467.2_Missense_Mutation_p.M724I|STK31_ENST00000428484.1_Missense_Mutation_p.M701I|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.M724I	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	724							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.M724I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCTTACAATGAGCTTGGAAC	0.393000													34	64					0	0	0.00058488	0	0
PSG3	5671	broad.mit.edu	37	19	43233405	43233405	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43233405C>T	ENST00000327495.5	-	5	1297	c.1113G>A	c.(1111-1113)aaG>aaA	p.K371K	PSG3_ENST00000595140.1_Silent_p.K371K	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	371	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATAGCTGAAACTTCCCATTAA	0.453000													53	163					0	0	0.000781405	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975989	76975989	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:76975989G>A	ENST00000409911.1	-	3	1831	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	LRRTM4_ENST00000409093.1_Silent_p.I535I|LRRTM4_ENST00000409884.1_Silent_p.I535I	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	535						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGCAGTACCCGATCACAGGCT	0.537000													16	32					0	0	0.000422831	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966907	41966907	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:41966907A>T	ENST00000298919.7	+	10	1934	c.1546A>T	c.(1546-1548)Atg>Ttg	p.M516L	PDZRN4_ENST00000402685.2_Missense_Mutation_p.M776L|PDZRN4_ENST00000539469.2_Missense_Mutation_p.M518L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	776							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGAAGCACAATGGCAGCCAC	0.517000													35	88					0	0	0.000953801	0	0
MYH8	4626	broad.mit.edu	37	17	10295881	10295881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10295881C>T	ENST00000403437.2	-	38	5640	c.5546G>A	c.(5545-5547)cGa>cAa	p.R1849Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1849					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTTTTACTCGTCGCTCATG	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				43	66					0	0	0.000781405	0	0
MCC	4163	broad.mit.edu	37	5	112384869	112384869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:112384869G>A	ENST00000302475.4	-	14	2569	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	MCC_ENST00000515367.2_Missense_Mutation_p.S606F|MCC_ENST00000408903.3_Missense_Mutation_p.S859F|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	669					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTCCACCTCGGACTTCAGGTG	0.617000													15	35					0	0	0.000308642	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417004	89417004	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:89417004C>T	ENST00000490686.1	-	0	206																											TCCCTGGTTTCTGCTGATACC	0.527000													57	103					0	0	0.000781405	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402383	47402383	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:47402383G>A	ENST00000310638.4	-	4	494	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	CYP4A11_ENST00000457840.2_Silent_p.L51L|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.L155L|CYP4A11_ENST00000371905.1_Silent_p.L155L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	155					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TAGGGCTTCAGGATGTCATAG	0.547000													29	44					0	0	0.00178596	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425870	71425870	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:71425870T>C	ENST00000373657.1	-	3	2980	c.2378A>G	c.(2377-2379)gAa>gGa	p.E793G	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.E916G			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	916					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATCAGCTATTTCAATAATGGA	0.403000													20	9					0	0	0.000586117	0	0
ABCC10	89845	broad.mit.edu	37	6	43412653	43412653	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:43412653C>T	ENST00000244533.3	+	11	3092	c.2733C>T	c.(2731-2733)ctC>ctT	p.L911L	ABCC10_ENST00000372530.4_Silent_p.L939L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	939	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CGCAGCTGCTCCTCTTTTCCC	0.617000													24	60					0	0	0.000878237	0	0
OR4C12	283093	broad.mit.edu	37	11	50003394	50003394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:50003394G>A	ENST00000335238.4	-	1	677	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GATCACATAGGATACCACCAA	0.388000													14	40					0	0	0.000566183	0	0
ECE2	9718	broad.mit.edu	37	3	184008848	184008848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:184008848G>A	ENST00000402825.3	+	17	2209	c.2209G>A	c.(2209-2211)Ggg>Agg	p.G737R	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.G590R|ECE2_ENST00000357474.5_Missense_Mutation_p.G665R|ECE2_ENST00000404464.3_Missense_Mutation_p.G619R	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	737	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAAAGAAGGGAACCTGCG	0.597000													13	54					0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179604434	179604434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179604434G>A	ENST00000589042.1	-	48	13750	c.13526C>T	c.(13525-13527)tCt>tTt	p.S4509F	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S4192F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.S4271F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S4146F|TTN_ENST00000342175.6_Missense_Mutation_p.S4338F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4192	Ig-like 25.						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)			ACCTGAAAAAGAATCCATTTC	0.378000													67	146					0	0	0.000781405	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773766	25773766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:25773766C>T	ENST00000377905.4	+	8	970	c.851C>T	c.(850-852)cCc>cTc	p.P284L	SLC17A4_ENST00000397076.2_Missense_Mutation_p.P54L|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	284					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGTCTCTTCCCATTAGGGCT	0.458000													21	59					0	0	0.00152264	0	0
TET3	200424	broad.mit.edu	37	2	74273784	74273784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:74273784C>T	ENST00000409262.3	+	1	335	c.335C>T	c.(334-336)tCt>tTt	p.S112F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	112							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGGCTGCTCTGCTGGCAGC	0.632000													18	34					0	0	0.000958276	0	0
RSAD1	55316	broad.mit.edu	37	17	48559766	48559766	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48559766C>T	ENST00000258955.2	+	4	874	c.789C>T	c.(787-789)gtC>gtT	p.V263V		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	263					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCGGGCTGTCCTTCGGGAGG	0.647000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	49					0	0	0.000978159	0	0
LAMC2	3918	broad.mit.edu	37	1	183155554	183155554	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:183155554T>A	ENST00000264144.4	+	1	132	c.67T>A	c.(67-69)Tcc>Acc	p.S23T	LAMC2_ENST00000493293.1_Missense_Mutation_p.S23T	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	23					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCGGGCCACCTCCAGGAGGGA	0.652000													9	15					0	0	0.000442599	0	0
AK5	26289	broad.mit.edu	37	1	77987620	77987620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:77987620G>A	ENST00000344720.5	+	12	2368	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	AK5_ENST00000354567.2_Missense_Mutation_p.G474R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	474					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGAAGAGTTCGGACGCAGGGT	0.527000													16	38					0	0	0.000958276	0	0
OR5H2	79310	broad.mit.edu	37	3	98002051	98002051	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:98002051T>A	ENST00000355273.2	+	1	320	c.320T>A	c.(319-321)tTt>tAt	p.F107Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ATTCAATTTTTTTCCTTTGCA	0.368000													44	79					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82581416	82581416	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:82581416C>T	ENST00000423517.2	-	5	9190	c.8853G>A	c.(8851-8853)agG>agA	p.R2951R	PCLO_ENST00000333891.8_Silent_p.R2951R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2882					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTGCAGCTCCTTCCAAATG	0.433000													42	78					0	0	0.00148497	0	0
SEPP1	6414	broad.mit.edu	37	5	42801088	42801088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:42801088C>T	ENST00000514985.1	-	5	1136	c.880G>A	c.(880-882)Gag>Aag	p.E294K	CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.E294K|SEPP1_ENST00000506577.1_Missense_Mutation_p.E294K	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	294					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GGAGCCAACTCTGAATCTGTG	0.403000													26	57					0	0	0.00058488	0	0
USP5	8078	broad.mit.edu	37	12	6972504	6972504	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6972504A>T	ENST00000229268.8	+	15	1969	c.1917A>T	c.(1915-1917)gaA>gaT	p.E639D	USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	639					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACGAAGACGAAGACTCCTTCT	0.587000													27	60					0	0	0.00106085	0	0
AMBP	259	broad.mit.edu	37	9	116823280	116823280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:116823280C>T	ENST00000265132.3	-	9	1214	c.952G>A	c.(952-954)Ggg>Agg	p.G318R		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	318	BPTI/Kunitz inhibitor 2.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	p.G318W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGGCAGCCCCCGTAGGGGAAG	0.622000													28	38					0	0	0.000720815	0	0
MAP3K19	80122	broad.mit.edu	37	2	135741363	135741363	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:135741363C>T	ENST00000375845.3	-	8	3135	c.3105G>A	c.(3103-3105)agG>agA	p.R1035R	MAP3K19_ENST00000375844.3_Silent_p.R217R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Silent_p.R922R|MAP3K19_ENST00000392918.3_Silent_p.R217R|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.R1052R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATTTCTCCTCCCTGTCATATA	0.398000													21	51					0	0	0.00047179	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112076	64112076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64112076G>A	ENST00000356786.5	+	14	2107	c.2063G>A	c.(2062-2064)gGg>gAg	p.G688E	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	688					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCTGGAAGGGACGGTCAGG	0.647000													4	2					0	0	0.000602214	0	0
TNXB	7148	broad.mit.edu	37	6	32017215	32017215	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32017215T>A	ENST00000375244.3	-	28	9790	c.9589A>T	c.(9589-9591)Acc>Tcc	p.T3197S	TNXB_ENST00000375247.2_Missense_Mutation_p.T3195S			P22105	TENX_HUMAN	tenascin XB	3242					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						TACTGCACGGTGAAGGAGTCG	0.682000													95	326					0	0	0.000781405	0	0
LMO3	55885	broad.mit.edu	37	12	16713469	16713469	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:16713469G>A	ENST00000320122.6	-	3	732	c.210C>T	c.(208-210)ctC>ctT	p.L70L	LMO3_ENST00000540848.1_Silent_p.L70L|LMO3_ENST00000540445.1_Silent_p.L92L|LMO3_ENST00000261169.6_Silent_p.L81L|LMO3_ENST00000534946.1_Silent_p.L70L|LMO3_ENST00000541295.1_Silent_p.L88L|LMO3_ENST00000354662.1_Silent_p.L70L|LMO3_ENST00000541846.1_Silent_p.L70L|LMO3_ENST00000537304.1_Silent_p.L70L|LMO3_ENST00000447609.1_Silent_p.L70L|LMO3_ENST00000535535.1_Silent_p.L70L|LMO3_ENST00000441439.2_Silent_p.L70L	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	70	LIM zinc-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TTACACCAAAGAGCCTAGAAT	0.403000													20	28					0	0	0.00121646	0	0
HCN3	57657	broad.mit.edu	37	1	155252281	155252281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:155252281G>A	ENST00000368358.3	+	2	366	c.358G>A	c.(358-360)Gag>Aag	p.E120K	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	120						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTCTTCAAGGAGGAGAACTC	0.532000													16	45					0	0	0.00074312	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550874	169550874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:169550874C>T	ENST00000340806.6	+	4	1433	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	478										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATGGACAATCCCATGGAAGAA	0.433000													18	35					0	0	0.00074312	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956468	96956468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:96956468G>A	ENST00000323853.5	-	19	2584	c.2507C>T	c.(2506-2508)cCa>cTa	p.P836L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	836	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCCCTTCTCTGGACTGTACAC	0.488000													36	68					0	0	0.00111076	0	0
GRM4	2914	broad.mit.edu	37	6	34101135	34101135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:34101135C>T	ENST00000374181.3	-	1	308	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	GRM4_ENST00000538487.1_Missense_Mutation_p.G47R|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	47					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTGATGTCCCCATCTATGCGG	0.607000													11	36					0	0	0.00136819	0	0
ISLR	3671	broad.mit.edu	37	15	74467805	74467805	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:74467805C>T	ENST00000249842.3	+	2	963	c.606C>T	c.(604-606)atC>atT	p.I202I	ISLR_ENST00000395118.1_Silent_p.I202I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	202	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCGTGTCCATCCCGGAGCAGG	0.662000													21	9					0	0	0.00278032	0	0
METTL24	728464	broad.mit.edu	37	6	110620142	110620142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:110620142C>T	ENST00000338882.4	-	4	768	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	257						extracellular region											TGTCCAAATTCATTCAAAATG	0.398000													14	32					0	0	0.00185496	0	0
ZNF567	163081	broad.mit.edu	37	19	37210633	37210633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:37210633C>T	ENST00000585696.1	+	3	2144	c.914C>T	c.(913-915)tCg>tTg	p.S305L	ZNF567_ENST00000392163.2_Missense_Mutation_p.S305L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.S305L|ZNF567_ENST00000536254.2_Missense_Mutation_p.S336L|ZNF567_ENST00000360729.4_Missense_Mutation_p.S305L			Q8N184	ZN567_HUMAN	zinc finger protein 567	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S305L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGGAGAAATCGTATGAATGT	0.458000													10	28					0	0	0.000673444	0	0
KCNN1	3780	broad.mit.edu	37	19	18092692	18092692	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:18092692G>A	ENST00000601725.1	+	0	308																											GGCCGAGGCCGACGTGGACGT	0.672000													7	12					0	0	0.000157383	0	0
TRIM31	11074	broad.mit.edu	37	6	30076814	30076814	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30076814G>A	ENST00000376734.3	-	5	881	c.756C>T	c.(754-756)gtC>gtT	p.V252V	TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.V252V	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	252						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGCACAAGACGACTTTGATAT	0.488000													15	75					0	0	0.00074312	0	0
RC3H2	54542	broad.mit.edu	37	9	125622240	125622240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125622240G>A	ENST00000373670.1	-	10	2405	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	RC3H2_ENST00000423239.2_Missense_Mutation_p.P602L|RC3H2_ENST00000357244.2_Missense_Mutation_p.P602L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	602	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGAGTCCTTGGATCTTGAAA	0.378000													150	168					0	0	0.000781405	0	0
PCSK5	5125	broad.mit.edu	37	9	78711007	78711007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:78711007G>A	ENST00000545128.1	+	8	1634	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	PCSK5_ENST00000376752.4_Missense_Mutation_p.D366N|PCSK5_ENST00000376767.3_Missense_Mutation_p.D366N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	366	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGTCCTACGATAAGAAAAT	0.428000													19	18					0	0	0.00188189	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453303	21453303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21453303C>T	ENST00000307378.6	-	9	1609	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E295K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E297K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	297					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCATATTTTTCCTTCTTGACC	0.294000													7	37					0	0	0.00198382	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500389	90500389	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:90500389G>A	ENST00000325643.5	+	4	1053	c.987G>A	c.(985-987)cgG>cgA	p.R329R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCCAGCCACGGCATCTTCCCG	0.612000													9	32					0	0	0.000274275	0	0
BAGE2	85319	broad.mit.edu	37	21	11058362	11058362	+	RNA	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:11058362T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATAAAACCTTGAAAAGGAA	0.348000													8	69					0	0	0.000157383	0	0
PCSK5	5125	broad.mit.edu	37	9	78808202	78808202	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:78808202G>C	ENST00000376752.4	+	21	3153	c.2676G>C	c.(2674-2676)aaG>aaC	p.K892N	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	892	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGTGAAAAAGAACAATCTGT	0.458000													14	41					0	0	0.000308642	0	0
NRG1	3084	broad.mit.edu	37	8	32621496	32621496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:32621496C>T	ENST00000338921.4	+	13	2040	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	NRG1_ENST00000287840.5_Missense_Mutation_p.S500F|NRG1_ENST00000287845.5_Missense_Mutation_p.S471F|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.S505F|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.S497F|NRG1_ENST00000405005.2_Missense_Mutation_p.S500F|NRG1_ENST00000539990.1_Missense_Mutation_p.S343F|NRG1_ENST00000519301.1_Missense_Mutation_p.S450F			Q02297	NRG1_HUMAN	neuregulin 1	500					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CAGTTCAGCTCCTTCCACCAC	0.557000													18	24					0	0	0.00074312	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588761	140588761	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140588761G>A	ENST00000239450.2	+	1	471	c.282G>A	c.(280-282)gaG>gaA	p.E94E	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		94	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E94D(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGGGAGGAGCTCTGTGGCT	0.478000													22	49					0	0	0.00152264	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698863	153698863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:153698863G>A	ENST00000369682.3	+	30	5240	c.5065G>A	c.(5065-5067)Gcc>Acc	p.A1689T	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1689					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCCCCTGGCCATCAAGTA	0.612000													30	19					0	0	0.00178596	0	0
MUSK	4593	broad.mit.edu	37	9	113563252	113563252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:113563252G>A	ENST00000416899.2	+	13	2696	c.2570G>A	c.(2569-2571)gGa>gAa	p.G857E	MUSK_ENST00000374448.4_Missense_Mutation_p.G865E|MUSK_ENST00000189978.5_Missense_Mutation_p.G865E			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	865					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AGGGCAGAGGGAACTGTGAGT	0.493000													9	24					0	0	0.000673444	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420485	55420485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55420485C>T	ENST00000242994.3	+	2	640	c.262C>T	c.(262-264)Cga>Tga	p.R88*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	88					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R88*(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ATTCAGGGCTCGAAGAGTCAA	0.507000													12	37					0	0	0.00136819	0	0
ITPR2	3709	broad.mit.edu	37	12	26639045	26639045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:26639045C>T	ENST00000381340.3	-	41	6219	c.5803G>A	c.(5803-5805)Gaa>Aaa	p.E1935K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1935					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACCTGCAATTCCCGGTTGTGA	0.388000													28	49					0	0	0.00283554	0	0
SULF1	23213	broad.mit.edu	37	8	70533414	70533414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:70533414G>A	ENST00000260128.4	+	14	2239	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SULF1_ENST00000458141.2_Missense_Mutation_p.E508K|SULF1_ENST00000419716.3_Missense_Mutation_p.E508K|SULF1_ENST00000402687.4_Missense_Mutation_p.E508K|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	508					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGTTGTAGGGAGTCTGGTTA	0.527000													20	45					0	0	0.00229938	0	0
NFASC	23114	broad.mit.edu	37	1	204923330	204923330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:204923330G>A	ENST00000367172.4	+	6	558	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	NFASC_ENST00000360049.4_Missense_Mutation_p.R71Q|NFASC_ENST00000338586.6_Missense_Mutation_p.R77Q|NFASC_ENST00000401399.1_Missense_Mutation_p.R77Q|NFASC_ENST00000404907.1_Missense_Mutation_p.R71Q|NFASC_ENST00000338515.6_Missense_Mutation_p.R77Q|NFASC_ENST00000367171.4_Missense_Mutation_p.R77Q|NFASC_ENST00000513543.1_Missense_Mutation_p.R71Q|NFASC_ENST00000403080.1_Missense_Mutation_p.R77Q|NFASC_ENST00000367170.4_Missense_Mutation_p.R77Q|NFASC_ENST00000404076.1_Missense_Mutation_p.R71Q|NFASC_ENST00000339876.6_Missense_Mutation_p.R77Q|NFASC_ENST00000367169.4_Missense_Mutation_p.R77Q|NFASC_ENST00000539706.1_Missense_Mutation_p.R71Q			O94856	NFASC_HUMAN	neurofascin	77	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACTGGACACGAAACAGCAGA	0.617000													7	28					0	0	0.000274275	0	0
MYT1L	23040	broad.mit.edu	37	2	1893142	1893142	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:1893142G>A	ENST00000399161.2	-	16	3138	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	MYT1L_ENST00000428368.2_Silent_p.S795S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	797					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)		GCTGCTGGGGGGACATGGGCT	0.617000													17	27					0	0	0.00074312	0	0
SETX	23064	broad.mit.edu	37	9	135139746	135139746	+	Silent	SNP	G	G	A	rs80296256	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:135139746G>A	ENST00000372169.2	-	27	8183	c.8001C>T	c.(7999-8001)ttC>ttT	p.F2667F	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Silent_p.F2605F|SETX_ENST00000224140.5_Silent_p.F2638F			Q7Z333	SETX_HUMAN	senataxin	2638	Necessary for nuclear localization.				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCCCTTCACTGAAAGCCCTGG	0.592000													150	194					0	0	0.000781405	0	0
ZNF169	169841	broad.mit.edu	37	9	97062706	97062706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:97062706C>T	ENST00000395395.2	+	5	956	c.866C>T	c.(865-867)cCg>cTg	p.P289L	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	289						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGGGAGAAGCCGTATGTGTGC	0.562000													28	50					0	0	0.00106085	0	0
MXRA5	25878	broad.mit.edu	37	X	3241590	3241590	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:3241590C>T	ENST00000217939.6	-	5	2290	c.2136G>A	c.(2134-2136)agG>agA	p.R712R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	712						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAGAAGTCTCCTTGAAGTGT	0.502000													27	13					0	0	0.00106085	0	0
SLC6A13	6540	broad.mit.edu	37	12	369044	369044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:369044G>A	ENST00000343164.4	-	2	227	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	SLC6A13_ENST00000436453.1_Missense_Mutation_p.P59S|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P59S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	59					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CAGAGATAGGGAAACCTCCAG	0.562000													42	96					0	0	0.000781405	0	0
DMXL2	23312	broad.mit.edu	37	15	51829950	51829950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:51829950G>A	ENST00000251076.5	-	11	1639	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	DMXL2_ENST00000449909.3_Missense_Mutation_p.S451F|DMXL2_ENST00000543779.2_Missense_Mutation_p.S451F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	451						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTATCCAGGGATAAATCTGA	0.323000													7	14					0	0	0.00198382	0	0
MYH1	4619	broad.mit.edu	37	17	10411972	10411972	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10411972G>A	ENST00000226207.5	-	16	1699	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	535	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCCAGGATGGAGAAGATGC	0.393000													24	34					0	0	0.00127121	0	0
APOBR	55911	broad.mit.edu	37	16	28507365	28507365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:28507365G>A	ENST00000564831.1	+	2	1036	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	APOBR_ENST00000328423.5_Missense_Mutation_p.E335K|APOBR_ENST00000431282.1_Missense_Mutation_p.E335K	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	335	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTCGGGAGGGGAGGAGGCCGG	0.716000													5	12					0	0	0.00116845	0	0
OR8K5	219453	broad.mit.edu	37	11	55927378	55927378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55927378C>T	ENST00000313447.1	-	1	415	c.416G>A	c.(415-417)cGa>cAa	p.R139Q		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGACACAGTCGCTGAGACAT	0.403000													39	39					0	0	0.00170553	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227561	56227561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:56227561G>A	ENST00000341744.3	-	4	731	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S	PMEPA1_ENST00000347215.4_Missense_Mutation_p.P103S|PMEPA1_ENST00000395814.1_Missense_Mutation_p.P88S|PMEPA1_ENST00000395816.3_Missense_Mutation_p.P88S|PMEPA1_ENST00000265626.4_Missense_Mutation_p.P88S	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	138					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGCAGGTACGGATAGGTGGGC	0.716000													10	7					0	0	0.000978159	0	0
SCRIB	23513	broad.mit.edu	37	8	144874934	144874934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144874934G>A	ENST00000356994.2	-	30	4127	c.4121C>T	c.(4120-4122)cCt>cTt	p.P1374L	SCRIB_ENST00000377533.3_Missense_Mutation_p.P1293L|SCRIB_ENST00000320476.3_Missense_Mutation_p.P1374L|SCRIB_ENST00000546337.1_5'UTR	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1374					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACGCGCTTAGGGGGGCCCTC	0.697000													7	10					0	0	0.00198382	0	0
FLT4	2324	broad.mit.edu	37	5	180057250	180057250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:180057250G>A	ENST00000261937.6	-	4	566	c.488C>T	c.(487-489)cCc>cTc	p.P163L	FLT4_ENST00000502649.1_Missense_Mutation_p.P163L|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.P163L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	163	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATTGAGGCCGGGGATGGACAC	0.632000													13	16					0	0	0.00244969	0	0
ADAM7	8756	broad.mit.edu	37	8	24339764	24339764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:24339764C>T	ENST00000175238.6	+	9	898	c.815C>T	c.(814-816)tCa>tTa	p.S272L	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.S44L|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S272L	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	272	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGCGTTTTTCATTTTGGCAA	0.338000													28	72					0	0	0.000720815	0	0
RAD23A	5886	broad.mit.edu	37	19	13058990	13058990	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:13058990G>A	ENST00000586534.1	+	3	295		c.e3-1		RAD23A_ENST00000541222.1_Splice_Site|RAD23A_ENST00000588826.2_Splice_Site|RAD23A_ENST00000592268.1_Splice_Site|RAD23A_ENST00000316856.3_Splice_Site			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)						interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGCTGTTGCAGACCAAAGCCG	0.622000								Nucleotide excision repair (NER)					13	28					0	0	0.00244969	0	0
GARNL3	84253	broad.mit.edu	37	9	130098439	130098439	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:130098439C>T	ENST00000373387.4	+	11	1258	c.906C>T	c.(904-906)atC>atT	p.I302I	GARNL3_ENST00000435213.2_Silent_p.I280I|GARNL3_ENST00000314904.5_Silent_p.I302I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	302	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.I284I(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAAACGATATCGTCACCATTG	0.433000													36	39					0	0	0.00195071	0	0
HAO2	51179	broad.mit.edu	37	1	119927482	119927482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:119927482G>A	ENST00000361035.4	+	5	689	c.406G>A	c.(406-408)Ggc>Agc	p.G136S	HAO2_ENST00000325945.3_Missense_Mutation_p.G123S	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	123	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGCTCCCGAAGGCCTCCGATG	0.493000													26	104					0	0	0.00047179	0	0
GPR98	84059	broad.mit.edu	37	5	89930994	89930994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:89930994G>A	ENST00000405460.2	+	10	1999	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	635					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGATTTGGGGAAATCTGCAA	0.348000													23	63					0	0	0.00188189	0	0
IL4	3565	broad.mit.edu	37	5	132018273	132018273	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:132018273G>A	ENST00000231449.2	+	4	521	c.456G>A	c.(454-456)tcG>tcA	p.S152S	IL4_ENST00000350025.2_Silent_p.S136S	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	152					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CAAAGTGTTCGAGCTGAATAT	0.299000													11	40					0	0	0.000673444	0	0
WDR52	55779	broad.mit.edu	37	3	113120439	113120439	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:113120439A>G	ENST00000393845.2	-	10	1384	c.1318T>C	c.(1318-1320)Ttg>Ctg	p.L440L	WDR52_ENST00000295868.2_Silent_p.L440L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	440										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACCTGAGCCAACCAAAAGTTA	0.343000													17	34					0	0	0.00074312	0	0
MARCH3	115123	broad.mit.edu	37	5	126206432	126206432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:126206432G>A	ENST00000308660.5	-	5	1169	c.655C>T	c.(655-657)Cag>Tag	p.Q219*		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	219					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		ATCACCCTCTGATTGGTCCGA	0.488000													20	28					0	0	0.00278032	0	0
PCDH15	65217	broad.mit.edu	37	10	55582522	55582522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:55582522G>A	ENST00000361849.3	-	34	5364	c.4970C>T	c.(4969-4971)tCt>tTt	p.S1657F	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1655F|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1632F|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1652F|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1586F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1615F|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1655					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGAGAGAGATTTCAACTG	0.403000										HNSCC(58;0.16)			27	28					0	0	0.000878237	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481727	27481727	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:27481727C>T	ENST00000233535.4	-	2	523	c.171G>A	c.(169-171)agG>agA	p.R57R	SLC30A3_ENST00000447008.2_Silent_p.R52R	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	57					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGGGGTCCCTGTGGCAGT	0.612000													9	31					0	0	0.000673444	0	0
GABRR2	2570	broad.mit.edu	37	6	89967511	89967511	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:89967511G>A	ENST00000402938.3	-	9	1409	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L	GABRR2_ENST00000602399.1_Silent_p.L451L			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	451					synaptic transmission	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(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGGCCCTTCAGAAGCCCCTTC	0.473000													16	26					0	0	0.000566183	0	0
SEPN1	57190	broad.mit.edu	37	1	26138011	26138011	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:26138011C>T	ENST00000361547.2	+	8	1132	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	SEPN1_ENST00000354177.4_Silent_p.I325I|SEPN1_ENST00000374315.1_Silent_p.I325I	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	359						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGGACATCGGCTACATAC	0.607000											OREG0013258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	168					0	0	0.000781405	0	0
RYR1	6261	broad.mit.edu	37	19	38939053	38939053	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:38939053G>T	ENST00000355481.4	+	10	990	c.859G>T	c.(859-861)Ggg>Tgg	p.G287W	RYR1_ENST00000360985.3_Missense_Mutation_p.G287W|RYR1_ENST00000359596.3_Missense_Mutation_p.G287W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	287	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCACTACCGGGCAGTACCT	0.652000													5	91					0.00116845	0.0045107	0.00116845	1	0
CRYGN	155051	broad.mit.edu	37	7	151127230	151127230	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:151127230G>A	ENST00000337323.2	-	4	579	c.453C>T	c.(451-453)ttC>ttT	p.F151F	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	151										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCAGCTGGAAGTCCTCAG	0.562000													30	40					0	0	0.001512	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:64988779C>T	ENST00000358738.3	+	2	948	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413000													17	25					0	0	0.00074312	0	0
TCOF1	6949	broad.mit.edu	37	5	149754238	149754238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:149754238C>T	ENST00000451292.1	+	9	1250	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	TCOF1_ENST00000504761.2_Missense_Mutation_p.S381F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S304F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S304F|TCOF1_ENST00000394269.3_Missense_Mutation_p.S381F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S381F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S381F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S381F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	381					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCAAGGAGTCCCCCAGGAAA	0.657000													11	38					0	0	0.000978159	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33406562	33406562	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33406562C>T	ENST00000418600.2	+	10	1643	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	SYNGAP1_ENST00000293748.5_Silent_p.I514I|SYNGAP1_ENST00000428982.2_Silent_p.I455I|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	514	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGAATTCATCCGTGCTCTGT	0.557000													34	134					0	0	0.000953801	0	0
C6	729	broad.mit.edu	37	5	41176764	41176764	+	Silent	SNP	C	C	T	rs146851023		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41176764C>T	ENST00000263413.3	-	8	1245	c.981G>A	c.(979-981)acG>acA	p.T327T	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T327T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	327	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.T327T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTAGCTTTCGTTGTGAAGT	0.338000													17	29					0	0	0.000958276	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:46230641C>T	ENST00000334344.6	+	8	1062	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_ENST00000422737.1_Missense_Mutation_p.S148F|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma								28	68					0	0	0.001512	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216060	20216060	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:20216060C>T	ENST00000331723.1	+	1	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCACTCTATCATGCAGGTCA	0.507000													9	13					0	0	0.000442599	0	0
KCNQ4	9132	broad.mit.edu	37	1	41298783	41298783	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:41298783C>T	ENST00000347132.5	+	11	1693	c.1611C>T	c.(1609-1611)atC>atT	p.I537I	KCNQ4_ENST00000509682.2_Silent_p.I483I|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	537					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCCGCTCCATCAGGTAAGACT	0.597000													5	21					0	0	0.000602214	0	0
RSPH3	83861	broad.mit.edu	37	6	159420880	159420880	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:159420880C>T	ENST00000252655.1	-	1	318	c.129G>A	c.(127-129)ggG>ggA	p.G43G	RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000297262.3_Silent_p.G43G	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	43										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCCCAGGTTTCCCGGGAAGGA	0.687000													6	20					0	0	0.00198382	0	0
SLC26A8	116369	broad.mit.edu	37	6	35959503	35959503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:35959503C>T	ENST00000490799.1	-	7	1228	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R292Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	292					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTTGTTGATTCGCAGAGCAAC	0.333000													25	29					0	0	0.00047179	0	0
HAUS1	115106	broad.mit.edu	37	18	43698189	43698189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:43698189C>T	ENST00000282058.6	+	3	328	c.248C>T	c.(247-249)tCc>tTc	p.S83F	HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	83					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GTGAATTTTTCCCCCGCCAAT	0.418000													27	64					0	0	0.00127121	0	0
MPP2	4355	broad.mit.edu	37	17	41975675	41975675	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:41975675G>A	ENST00000269095.4	-	3	409	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MPP2_ENST00000523501.1_Silent_p.F24F|MPP2_ENST00000377184.3_Silent_p.F52F|MPP2_ENST00000518766.1_Silent_p.F80F|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000536246.1_Silent_p.F24F|MPP2_ENST00000461854.1_Silent_p.F35F	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	35	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGCCTCGAAGGAAGATCAGGT	0.587000													29	42					0	0	0.0024448	0	0
LILRB4	11006	broad.mit.edu	37	19	55175926	55175926	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55175926C>T	ENST00000391736.1	+	6	960	c.645C>T	c.(643-645)ctC>ctT	p.L215L	LILRB4_ENST00000270452.2_Silent_p.L215L|LILRB4_ENST00000391733.3_Silent_p.L215L|LILRB4_ENST00000430952.2_Silent_p.L215L|LILRB4_ENST00000391734.3_Silent_p.L215L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	215	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCTGGAGCTCATAGTCTCAG	0.622000													10	33					0	0	0.000673444	0	0
AMER3	205147	broad.mit.edu	37	2	131520966	131520966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:131520966G>A	ENST00000423981.1	+	2	1431	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	AMER3_ENST00000321420.4_Missense_Mutation_p.D441N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCCAGATGATGACCTGTGCGT	0.662000													15	37					0	0	0.00074312	0	0
GRIK3	2899	broad.mit.edu	37	1	37307391	37307391	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:37307391C>T	ENST00000373091.3	-	10	1492	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G	GRIK3_ENST00000373093.4_Silent_p.G492G	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	492					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATCCTGTGCCCCGTACTTGC	0.597000													49	77					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179636071	179636071	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179636071C>T	ENST00000589042.1	-	34	8207	c.7983G>A	c.(7981-7983)ctG>ctA	p.L2661L	TTN_ENST00000591111.1_Silent_p.L2661L|TTN_ENST00000342992.6_Silent_p.L2661L|TTN_ENST00000359218.5_Silent_p.L2615L|TTN_ENST00000360870.5_Silent_p.L2661L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L2615L|TTN_ENST00000342175.6_Silent_p.L2615L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2397	Ig-like 15.						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)			TGTTGTTAGTCAGTGGTAGGT	0.458000													20	43					0	0	0.00188189	0	0
COL7A1	1294	broad.mit.edu	37	3	48617237	48617237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:48617237C>T	ENST00000328333.8	-	57	5242	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1712E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1712	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1712V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTCCAGGTCCTGTGTCTAC	0.582000													20	27					0	0	0.00278032	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312110	102312110	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:102312110C>T	ENST00000561463.1	+	0	13478																											CAGTGAGAGCCTCCCCTGCCC	0.632000													39	36					0	0	0.000781405	0	0
NUAK2	81788	broad.mit.edu	37	1	205277745	205277745	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205277745G>A	ENST00000367157.3	-	3	594	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	156	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGATCTGCCGGAAGAAATGCC	0.572000													11	30					0	0	0.000673444	0	0
MICAL1	64780	broad.mit.edu	37	6	109767004	109767004	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:109767004T>A	ENST00000368952.4	-	20	2990	c.2700A>T	c.(2698-2700)gaA>gaT	p.E900D	MICAL1_ENST00000358807.3_Missense_Mutation_p.E881D|MICAL1_ENST00000358577.3_Missense_Mutation_p.E795D			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	881					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AAGGCACATCTTCTTCTTCCT	0.537000													10	15					0	0	0.00244969	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137358	40137358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:40137358C>T	ENST00000278198.2	-	2	2448	c.485G>A	c.(484-486)aGc>aAc	p.S162N	LRRC4C_ENST00000528697.1_Missense_Mutation_p.S162N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.S162N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.S162N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	162					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)				AGAAGGGATGCTTTCAATGGG	0.423000													14	51					0	0	0.000566183	0	0
GLRB	2743	broad.mit.edu	37	4	158043524	158043524	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:158043524T>G	ENST00000264428.4	+	4	542	c.272T>G	c.(271-273)tTt>tGt	p.F91C	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.F91C|GLRB_ENST00000541722.1_Missense_Mutation_p.F91C	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	91					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATTAACAGTTTTGGATCCATT	0.254000													5	27					0	0	0.00116845	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141131	63141131	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:63141131C>T	ENST00000279178.3	+	3	771	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	174					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGAAGGTTCGTGCTCAGAT	0.458000													21	25					0	0	0.00229938	0	0
FRAS1	80144	broad.mit.edu	37	4	79369463	79369463	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:79369463C>T	ENST00000264895.6	+	44	6707	c.6267C>T	c.(6265-6267)ctC>ctT	p.L2089L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2088					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCTACAGCTCTCAGCAGGTA	0.463000													4	3					0	0	0.00024832	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355470	21355470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21355470G>A	ENST00000256958.2	+	10	1277	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	394					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.G394E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTTAGGAGGATATATCATT	0.289000													18	40					0	0	0.00074312	0	0
LPPR5	163404	broad.mit.edu	37	1	99418669	99418669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:99418669G>A	ENST00000370188.3	-	3	938	c.578C>T	c.(577-579)tCc>tTc	p.S193F	LPPR5_ENST00000263177.4_Missense_Mutation_p.S193F	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		193						integral to membrane	hydrolase activity										TGCTTCTTTGGATGGAAAGGT	0.408000													21	69					0	0	0.00188189	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927151	111927151	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:111927151C>T	ENST00000305815.5	-	16	2112	c.1860G>A	c.(1858-1860)gtG>gtA	p.V620V	SLC9C1_ENST00000487372.1_Silent_p.V572V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	620	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCATTAATATCACAAGGTATC	0.294000													45	143					0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	121980867	121980867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121980867G>A	ENST00000498619.1	+	4	1423	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	CASR_ENST00000490131.1_Missense_Mutation_p.G329S|CASR_ENST00000296154.5_Missense_Mutation_p.G329S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	329					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGATCCCAGGCTTCCGGGA	0.557000													15	30					0	0	0.000308642	0	0
NLRP10	338322	broad.mit.edu	37	11	7982828	7982828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:7982828C>T	ENST00000328600.2	-	2	492	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	111							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCTGCCATTCCTCTAGGCAG	0.517000													19	56					0	0	0.00278032	0	0
ARPP21	10777	broad.mit.edu	37	3	35732458	35732458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:35732458G>A	ENST00000187397.4	+	9	1103	c.647G>A	c.(646-648)gGa>gAa	p.G216E	ARPP21_ENST00000417925.1_Missense_Mutation_p.G216E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G216E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G216E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G216E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	216	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GATCAAACAGGAAAATCTGTT	0.378000													39	49					0	0	0.00195071	0	0
LPHN2	23266	broad.mit.edu	37	1	82435023	82435023	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:82435023C>T	ENST00000370728.1	+	17	3318	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	LPHN2_ENST00000370713.1_Silent_p.F878F|LPHN2_ENST00000370717.2_Silent_p.F891F|LPHN2_ENST00000359929.3_Silent_p.F878F|LPHN2_ENST00000370723.1_Silent_p.F878F|LPHN2_ENST00000370715.1_Silent_p.F878F|LPHN2_ENST00000370727.1_Silent_p.F891F|LPHN2_ENST00000335786.5_Silent_p.F891F|LPHN2_ENST00000319517.6_Silent_p.F878F|LPHN2_ENST00000370730.1_Silent_p.F891F|LPHN2_ENST00000271029.4_Silent_p.F891F|LPHN2_ENST00000370721.1_Silent_p.F816F|LPHN2_ENST00000370725.1_Silent_p.F891F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.F878F			O95490	LPHN2_HUMAN	latrophilin 2	891					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAACCTTTTCATTGCTGAAT	0.378000													36	94					0	0	0.000692331	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247385	142247385	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142247385G>A	ENST00000390361.3	-	0	120																											GGGGGTCTGGGAGACTCCAGC	0.478000													11	35					0	0	0.00136819	0	0
BMP10	27302	broad.mit.edu	37	2	69093461	69093461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:69093461C>T	ENST00000295379.1	-	2	735	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	193					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGTTGGTTCCATATATCTCC	0.483000													11	37					0	0	0.000978159	0	0
BCL11A	53335	broad.mit.edu	37	2	60688963	60688963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:60688963G>A	ENST00000335712.6	-	4	1311	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	BCL11A_ENST00000356842.4_Missense_Mutation_p.P362S|BCL11A_ENST00000358510.4_Missense_Mutation_p.P328S|BCL11A_ENST00000538214.1_Missense_Mutation_p.P328S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	362	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GATTGCAGAGGAGGGAGGGGG	0.637000			T	IGH@	B-CLL								88	124					0	0	0.000781405	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473925	6473925	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:6473925T>A	ENST00000382599.4	-	1	248	c.32A>T	c.(31-33)aAc>aTc	p.N11I	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	11					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GAAGCTGTGGTTAATTTTCCG	0.657000													47	96					0	0	0.000781405	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996397	140996397	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:140996397C>T	ENST00000285879.4	+	4	3493	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	MAGEC1_ENST00000406005.2_Silent_p.F136F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1069	MAGE.						protein binding	p.F1069F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTACGAATTCCTGTGGGGTC	0.488000										HNSCC(15;0.026)			48	37					0	0	0.000781405	0	0
LRBA	987	broad.mit.edu	37	4	151770044	151770044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:151770044G>A	ENST00000535741.1	-	26	4738	c.4265C>T	c.(4264-4266)tCt>tTt	p.S1422F	LRBA_ENST00000510413.1_Missense_Mutation_p.S1422F|LRBA_ENST00000357115.3_Missense_Mutation_p.S1422F|LRBA_ENST00000507224.1_Missense_Mutation_p.S1422F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1422						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAGCCAAGAGAACTTGCAAA	0.413000													36	111					0	0	0.00148497	0	0
CBLL1	79872	broad.mit.edu	37	7	107399438	107399438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:107399438C>T	ENST00000440859.2	+	6	1758	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	CBLL1_ENST00000222597.2_Nonsense_Mutation_p.Q430*	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	431	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTCATTACCCCAGTTCACTGA	0.522000													18	63					0	0	0.00121646	0	0
ASNS	440	broad.mit.edu	37	7	97498279	97498279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:97498279C>T	ENST00000175506.4	-	4	718	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	ASNS_ENST00000422745.1_Missense_Mutation_p.V43M|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.V43M|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394309.3_Missense_Mutation_p.V64M|ASNS_ENST00000394308.3_Missense_Mutation_p.V64M	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	64	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TATTTCTTCACTCGAATTGGC	0.433000													15	30					0	0	0.00074312	0	0
KCND2	3751	broad.mit.edu	37	7	119914607	119914607	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:119914607A>T	ENST00000331113.4	+	0	886					NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2						regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCTTGACTGGAGGAAGTGGGT	0.517000													21	53					0	0	0.00152264	0	0
IDE	3416	broad.mit.edu	37	10	94291658	94291658	+	Silent	SNP	G	G	A	rs34747737		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:94291658G>A	ENST00000265986.6	-	4	564	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	170					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGGGGCACAGAAAAAACTGT	0.353000													126	132					0	0	0.000781405	0	0
LRP5L	91355	broad.mit.edu	37	22	25755824	25755824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:25755824G>A	ENST00000444995.3	-	4	936	c.236C>T	c.(235-237)cCc>cTc	p.P79L	LRP5L_ENST00000402785.2_Missense_Mutation_p.P79L|LRP5L_ENST00000402859.2_Missense_Mutation_p.P79L			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	79										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AATGGCACGGGGCTCGTCCAT	0.607000													19	62					0	0	0.00188189	0	0
COL4A6	1288	broad.mit.edu	37	X	107447583	107447583	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:107447583G>A	ENST00000394872.2	-	13	972	c.741C>T	c.(739-741)ttC>ttT	p.F247F	COL4A6_ENST00000372216.4_Silent_p.F250F|COL4A6_ENST00000334504.7_Silent_p.F249F|COL4A6_ENST00000545689.1_Silent_p.F249F|COL4A6_ENST00000538570.1_Silent_p.F249F			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	250	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGAATCCCATGAATTCCAGCT	0.398000									Alport syndrome with Diffuse Leiomyomatosis				20	9					0	0	0.00047179	0	0
SPACA7	122258	broad.mit.edu	37	13	113052392	113052392	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113052392C>T	ENST00000375699.3	+	2	260	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	SPACA7_ENST00000283550.3_Silent_p.L61L			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	61						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GATTTTAGATCTGAATAAAAC	0.478000													27	76					0	0	0.001512	0	0
LONP2	83752	broad.mit.edu	37	16	48296762	48296762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:48296762C>T	ENST00000285737.4	+	6	1054	c.961C>T	c.(961-963)Cct>Tct	p.P321S	LONP2_ENST00000535754.1_Missense_Mutation_p.P277S	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	321					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTAGAACTTCCTTGGAACAA	0.348000													15	18					0	0	0.000566183	0	0
C6orf58	352999	broad.mit.edu	37	6	127898383	127898383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:127898383C>T	ENST00000329722.7	+	1	65	c.53C>T	c.(52-54)tCc>tTc	p.S18F	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	18						extracellular region		p.S18F(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTTCTGCTTCCTTAGCAGGG	0.502000													18	67					0	0	0.00121646	0	0
LCN9	392399	broad.mit.edu	37	9	138555263	138555263	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:138555263G>A	ENST00000277526.3	+	1	96	c.96_splice	c.e1+1	p.R32_splice	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	32						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		ACGTGGCCAGGGTGTGTCTGC	0.617000													15	22					0	0	0.000566183	0	0
PSG2	5670	broad.mit.edu	37	19	43579626	43579626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43579626C>T	ENST00000406487.1	-	3	687	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	197	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTGTTGGTTTCGGACAGCTGA	0.498000													89	196					0	0	0.000781405	0	0
OR10X1	128367	broad.mit.edu	37	1	158549368	158549368	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158549368T>C	ENST00000368150.1	-	1	321	c.322A>G	c.(322-324)Att>Gtt	p.I108V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGACTGAAATGCTTCTGTCC	0.478000													27	52					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9075932	9075932	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9075932C>T	ENST00000397910.4	-	3	11717	c.11514G>A	c.(11512-11514)gtG>gtA	p.V3838V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3839	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						TGTGTGGGATCACATCCAGAG	0.512000													36	80					0	0	0.000692331	0	0
OR6C4	341418	broad.mit.edu	37	12	55945125	55945125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55945125G>A	ENST00000394256.2	+	1	143	c.115G>A	c.(115-117)Gga>Aga	p.G39R	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AAGTATCCTAGGAAATCTGAC	0.423000													46	110					0	0	0.000781405	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096357	73096357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:73096357C>T	ENST00000450736.2	+	4	1014	c.599C>T	c.(598-600)aCc>aTc	p.T200I	SLC16A5_ENST00000329783.4_Missense_Mutation_p.T200I|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T240I|SLC16A5_ENST00000580123.1_Missense_Mutation_p.T200I			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	200					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCCCTGAGACCAAAGAATGT	0.647000													15	15					0	0	0.00244969	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359170	64359170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64359170C>T	ENST00000377574.1	+	1	889	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	SLC22A12_ENST00000377572.1_Missense_Mutation_p.R48C|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R48C|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R48C	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	48					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.S41fs*22(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCCCAGCCACCGCTGCTGGGC	0.637000													7	12					0	0	0.000157383	0	0
DNMT1	1786	broad.mit.edu	37	19	10246816	10246816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10246816G>A	ENST00000340748.4	-	37	4824	c.4589C>T	c.(4588-4590)cCc>cTc	p.P1530L	DNMT1_ENST00000359526.4_Missense_Mutation_p.P1546L|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1533L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1530	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.P1530L(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CATGGGCTCGGGGTTGGTGAC	0.652000													7	29					0	0	0.000274275	0	0
CFAP54	144535	broad.mit.edu	37	12	97102521	97102521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:97102521G>A	ENST00000524981.3	+	15	2017	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K				Q6ZTY8	CL063_HUMAN		647										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTGTGTCCCAGAAAATAAATT	0.333000													23	66					0	0	0.000586117	0	0
LCA5	167691	broad.mit.edu	37	6	80196870	80196870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:80196870G>A	ENST00000392959.1	-	9	2556	c.1945C>T	c.(1945-1947)Caa>Taa	p.Q649*	LCA5_ENST00000369846.4_Nonsense_Mutation_p.Q649*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	649					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCATGTTCTTGATCTCTGCTG	0.413000													37	95					0	0	0.00148497	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716075	170716075	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:170716075G>A	ENST00000314251.3	-	10	1360	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	SLC2A2_ENST00000382808.4_Silent_p.F308F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	427					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GTCCTTGACTGAAAAACTCAG	0.473000													19	54					0	0	0.00152264	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761582	13761582	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13761582G>A	ENST00000279593.3	-	9	2174	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	655					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTCCTCTTGGATCATGAAGG	0.498000													16	24					0	0	0.000422831	0	0
ACSL6	23305	broad.mit.edu	37	5	131308513	131308513	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:131308513G>A	ENST00000379264.2	-	13	1350	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	ACSL6_ENST00000296869.4_Silent_p.L414L|ACSL6_ENST00000379246.1_Silent_p.L400L|ACSL6_ENST00000379249.3_Silent_p.L389L|ACSL6_ENST00000379240.1_Silent_p.L389L|ACSL6_ENST00000379255.1_Silent_p.L314L|ACSL6_ENST00000357096.1_Silent_p.L314L|ACSL6_ENST00000543479.1_Silent_p.L389L|ACSL6_ENST00000379244.1_Silent_p.L389L|ACSL6_ENST00000544770.1_Silent_p.L298L|ACSL6_ENST00000379272.2_Silent_p.L404L|ACSL6_ENST00000431707.1_Silent_p.L369L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	389					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAACTCCAGGAGCCAGCGCT	0.453000													24	50					0	0	0.000878237	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157146	65157146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:65157146C>T	ENST00000323544.4	+	6	660	c.532C>T	c.(532-534)Ccg>Tcg	p.P178S	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	178	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTTGATGTTCCGGACAGTGG	0.592000													54	38					0	0	0.000781405	0	0
OR3A1	4994	broad.mit.edu	37	17	3195490	3195490	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:3195490G>A	ENST00000323404.1	-	1	386	c.387C>T	c.(385-387)atC>atT	p.I129I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGGCCGGCAGATGGCCAGGA	0.597000													22	27					0	0	0.00229938	0	0
CD163L1	283316	broad.mit.edu	37	12	7556136	7556136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7556136C>T	ENST00000313599.3	-	6	1460	c.1403G>A	c.(1402-1404)tGt>tAt	p.C468Y	CD163L1_ENST00000416109.2_Missense_Mutation_p.C478Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.C468Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	468	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTTACCAGAACAAATTACTCC	0.393000													18	45					0	0	0.00152264	0	0
MME	4311	broad.mit.edu	37	3	154859807	154859807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:154859807G>A	ENST00000460393.1	+	11	1105	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	MME_ENST00000462745.1_Missense_Mutation_p.E329K|MME_ENST00000360490.2_Missense_Mutation_p.E329K|MME_ENST00000492661.1_Missense_Mutation_p.E329K|MME_ENST00000493237.1_Missense_Mutation_p.E329K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	329					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTCACAAATGAAATCATGTC	0.343000													21	56					0	0	0.00121646	0	0
ZNF653	115950	broad.mit.edu	37	19	11609119	11609119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:11609119C>A	ENST00000585656.1	-	2	246	c.247G>T	c.(247-249)Gga>Tga	p.G83*	ZNF653_ENST00000293771.5_Missense_Mutation_p.R112L|ZNF653_ENST00000593191.1_5'UTR																							ACTTTTCTTCCGCTTTGGCTT	0.607000													6	195					0.00198382	0.00762708	0.00198382	1	0
HIVEP2	3097	broad.mit.edu	37	6	143081087	143081087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:143081087G>A	ENST00000367603.2	-	9	7080	c.6338C>T	c.(6337-6339)cCa>cTa	p.P2113L	HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2113L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2113L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2113	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGCCTCCTTGGAGACAAATG	0.468000													11	26					0	0	0.000673444	0	0
CCDC62	84660	broad.mit.edu	37	12	123273346	123273346	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:123273346T>A	ENST00000253079.6	+	5	884	c.540T>A	c.(538-540)tgT>tgA	p.C180*	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Nonsense_Mutation_p.C180*|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	180						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTGCAGATTGTTCGGGTAAAT	0.348000													24	66					0	0	0.000720815	0	0
FLNB	2317	broad.mit.edu	37	3	58141800	58141800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:58141800C>T	ENST00000295956.4	+	41	7051	c.6886C>T	c.(6886-6888)Cag>Tag	p.Q2296*	FLNB_ENST00000429972.2_Nonsense_Mutation_p.Q2285*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.Q2116*|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Nonsense_Mutation_p.Q2327*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.Q2272*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.Q2103*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.Q2255*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2296	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATGAGCCTTCAGGTGAGATG	0.602000													8	20					0	0	0.000157383	0	0
LRP1	4035	broad.mit.edu	37	12	57585135	57585135	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:57585135C>T	ENST00000243077.3	+	44	7735	c.7269C>T	c.(7267-7269)ttC>ttT	p.F2423F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2423					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCACCCCTTCGGGCTGGCCG	0.617000													7	21					0	0	0.00198382	0	0
SEC14L1	6397	broad.mit.edu	37	17	75186987	75186987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:75186987G>A	ENST00000413679.2	+	4	469	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	SEC14L1_ENST00000585618.1_Missense_Mutation_p.E56K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E56K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E56K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E22K|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E56K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E56K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E22K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	56	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCATGTCATTGAAAGGCGCTG	0.512000													29	90					0	0	0.0024448	0	0
RNASET2	8635	broad.mit.edu	37	6	167343100	167343100	+	Silent	SNP	G	G	A	rs76894173		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:167343100G>A	ENST00000366855.6	-	10	1308	c.633C>T	c.(631-633)ccC>ccT	p.P211P	RNASET2_ENST00000476238.2_Silent_p.P249P|RNASET2_ENST00000508775.1_Silent_p.P249P|RP11-514O12.4_ENST00000507747.1_Intron			O00584	RNT2_HUMAN	ribonuclease T2	249					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTAGGTGGGGGATAGAAGA	0.502000													100	234					0	0	0.000781405	0	0
HTR2A	3356	broad.mit.edu	37	13	47409042	47409042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:47409042C>T	ENST00000378688.4	-	3	1477	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	HTR2A_ENST00000543956.1_Missense_Mutation_p.G365E|HTR2A_ENST00000542664.1_Missense_Mutation_p.G449E			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	449					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATGCTGCTTTCCTAGAGCAAC	0.448000													41	92					0	0	0.0025221	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:30365209G>A	ENST00000389194.2	-	1	61	c.56C>T	c.(55-57)tCt>tTt	p.S19F	LTN1_ENST00000389195.2_Missense_Mutation_p.S19F|LTN1_ENST00000361371.4_5'UTR			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000													4	6					0	0	0.00024832	0	0
NRP2	8828	broad.mit.edu	37	2	206580965	206580965	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:206580965C>T	ENST00000360409.3	+	3	1091	c.300C>T	c.(298-300)ctC>ctT	p.L100L	NRP2_ENST00000357118.4_Silent_p.L100L|NRP2_ENST00000357785.5_Silent_p.L100L|NRP2_ENST00000540841.1_Silent_p.L100L|NRP2_ENST00000355117.4_Silent_p.L100L|NRP2_ENST00000412873.2_Silent_p.L100L|NRP2_ENST00000272849.3_Silent_p.L100L|NRP2_ENST00000540178.1_Silent_p.L100L|NRP2_ENST00000417189.1_Silent_p.L100L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	100	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCGCAGACCTCCTGGGCAAAC	0.577000													28	58					0	0	0.00127121	0	0
ZBBX	79740	broad.mit.edu	37	3	167051674	167051674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:167051674C>T	ENST00000392766.2	-	10	968	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZBBX_ENST00000307529.5_Missense_Mutation_p.E210K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E210K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E210K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.E181K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	210						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						TTACTGGTTTCCTTTGTAGAA	0.348000													30	49					0	0	0.00127121	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859746	96859746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:96859746C>T	ENST00000375360.3	+	7	1076	c.736C>T	c.(736-738)Cct>Tct	p.P246S	PTPDC1_ENST00000288976.3_Missense_Mutation_p.P298S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	246							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTTTCTAACTCCTCTCCGCAA	0.453000													47	57					0	0	0.000781405	0	0
OR4A15	81328	broad.mit.edu	37	11	55135991	55135991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55135991C>T	ENST00000314706.3	+	1	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211					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						GATTTGTATCCCTTATTGAAA	0.413000													30	29					0	0	0.00058488	0	0
DMRT1	1761	broad.mit.edu	37	9	847071	847071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:847071C>T	ENST00000382276.3	+	2	615	c.466C>T	c.(466-468)Ccg>Tcg	p.P156S	DMRT1_ENST00000569227.1_5'UTR	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	156					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGGCAGTAACCCGTGCCTCAT	0.607000													13	16					0	0	0.000308642	0	0
KLF3	51274	broad.mit.edu	37	4	38690447	38690447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38690447C>T	ENST00000261438.5	+	3	604	c.299C>T	c.(298-300)tCc>tTc	p.S100F	KLF3_ENST00000514033.1_Missense_Mutation_p.S100F	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	100	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATGCCTTCTTCCAGCCCACCG	0.617000													18	50					0	0	0.00188189	0	0
FOXJ2	55810	broad.mit.edu	37	12	8192620	8192620	+	Silent	SNP	C	C	T	rs148966560		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:8192620C>T	ENST00000162391.3	+	2	1337	c.192C>T	c.(190-192)gaC>gaT	p.D64D	FOXJ2_ENST00000428177.2_Silent_p.D64D	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	64					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TGCACCAGGACGGCAAGCCAC	0.587000													18	35					0	0	0.00074312	0	0
FGGY	55277	broad.mit.edu	37	1	59805663	59805663	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:59805663C>T	ENST00000371218.4	+	3	419	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Nonsense_Mutation_p.R79*|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	79					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AAACCAAATTCGAGGACTTGG	0.363000													25	24					0	0	0.00178596	0	0
TNXB	7148	broad.mit.edu	37	6	32037450	32037450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32037450C>T	ENST00000375244.3	-	15	5668	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1823K			P22105	TENX_HUMAN	tenascin XB	1905	Fibronectin type-III 10.				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						AGGCTGCCCTCCACGGGCACC	0.662000													59	170					0	0	0.000781405	0	0
KRT80	144501	broad.mit.edu	37	12	52579308	52579308	+	Missense_Mutation	SNP	C	C	T	rs142483540		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:52579308C>T	ENST00000313234.5	-	2	461	c.364G>A	c.(364-366)Gac>Aac	p.D122N	KRT80_ENST00000394815.2_Missense_Mutation_p.D122N	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	122	Linker 1.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATGGCTGAGTCCTGGCCCTGC	0.637000													9	16					0	0	0.000978159	0	0
PLA2G6	8398	broad.mit.edu	37	22	38508283	38508283	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38508283A>C	ENST00000332509.3	-	17	2489	c.2306T>G	c.(2305-2307)aTg>aGg	p.M769R	PLA2G6_ENST00000335539.3_Missense_Mutation_p.M715R|PLA2G6_ENST00000402064.1_Missense_Mutation_p.M715R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	769					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTCATCCAGCATGATGTCCGT	0.617000													5	12					0	0	0.000602214	0	0
ZNF235	9310	broad.mit.edu	37	19	44791596	44791596	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:44791596G>A	ENST00000291182.4	-	5	2094	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACTCCAACTGAATTCTTTCC	0.483000													25	42					0	0	0.00278032	0	0
UBE4A	9354	broad.mit.edu	37	11	118252157	118252157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:118252157C>T	ENST00000252108.3	+	12	2059	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	UBE4A_ENST00000545354.1_Missense_Mutation_p.A115V|UBE4A_ENST00000431736.2_Missense_Mutation_p.A650V	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	643					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CGCCGCTTTGCCGATGACATT	0.398000													45	50					0	0	0.000781405	0	0
KRT9	3857	broad.mit.edu	37	17	39724826	39724826	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39724826C>T	ENST00000246662.4	-	5	1169	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K	KRT9_ENST00000588431.1_Silent_p.K135K	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	368	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GGGTCACCTCCTTGGCACTGG	0.547000													164	183					0	0	0.000781405	0	0
MRPL4	51073	broad.mit.edu	37	19	10369321	10369321	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10369321C>T	ENST00000393733.2	+	8	726	c.699C>T	c.(697-699)gcC>gcT	p.A233A	CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000253099.6_Silent_p.A233A|MRPL4_ENST00000307422.5_Silent_p.A233A|MRPL4_ENST00000590669.1_Silent_p.A233A			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	233					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCGTGGAGGCCACCTCTAGGC	0.592000													20	39					0	0	0.000958276	0	0
SACS	26278	broad.mit.edu	37	13	23906653	23906653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:23906653G>A	ENST00000382298.3	-	10	11950	c.11362C>T	c.(11362-11364)Cgt>Tgt	p.R3788C	SACS_ENST00000402364.1_Missense_Mutation_p.R3038C|SACS_ENST00000382292.3_Missense_Mutation_p.R3788C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3788					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R3641C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACTGAAAACGAAATTCCCTT	0.383000													25	40					0	0	0.000720815	0	0
IGHG1	3500	broad.mit.edu	37	14	106208459	106208459	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:106208459C>T	ENST00000390548.2	-	0	440																											GGCTCACGTCCACCACCACGC	0.592000													39	34					0	0	0.000814825	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753756	140753756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140753756C>T	ENST00000517434.1	+	1	106	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCTATTCCCGAGGAGCT	0.662000													8	14					0	0	0.000274275	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984892	117984892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:117984892C>T	ENST00000356554.3	+	6	1630	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	299					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGAGAAACTCCTTCCTGCCTT	0.343000													23	108					0	0	0.000878237	0	0
TCTN1	79600	broad.mit.edu	37	12	111066746	111066746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:111066746C>T	ENST00000550703.2	+	4	803	c.647C>T	c.(646-648)tCt>tTt	p.S216F	TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551590.1_Intron|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	218					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTGATTGATTCTTTTCATCCC	0.348000													9	32					0	0	0.000274275	0	0
IPO5	3843	broad.mit.edu	37	13	98645155	98645155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:98645155G>A	ENST00000261574.5	+	10	913	c.733G>A	c.(733-735)Gac>Aac	p.D245N	IPO5_ENST00000539640.1_Missense_Mutation_p.D102N|IPO5_ENST00000490680.1_Missense_Mutation_p.D227N	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	227					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GGCGGTAAATGACTCGTGCTA	0.403000													29	65					0	0	0.001512	0	0
MSR1	4481	broad.mit.edu	37	8	16012621	16012621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:16012621G>A	ENST00000350896.3	-	6	1047	c.850C>T	c.(850-852)Cga>Tga	p.R284*	MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302*|MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000262101.5_Nonsense_Mutation_p.R284*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	284	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTGGGACCTCGATCTCCTTTT	0.393000													18	33					0	0	0.000958276	0	0
CD86	942	broad.mit.edu	37	3	121828152	121828152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121828152G>A	ENST00000330540.2	+	5	860	c.744G>A	c.(742-744)tgG>tgA	p.W248*	CD86_ENST00000469710.1_Nonsense_Mutation_p.W166*|CD86_ENST00000264468.5_Nonsense_Mutation_p.W35*|CD86_ENST00000493101.1_Nonsense_Mutation_p.W136*|CD86_ENST00000393627.2_Nonsense_Mutation_p.W242*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	248					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACATTCCTTGGATTACAGCTG	0.413000													28	64					0	0	0.000878237	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175450	140175450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140175450G>A	ENST00000526136.1	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHA2_ENST00000520672.2_Missense_Mutation_p.E301K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E301K|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCAGGGGAAATCAGAAC	0.433000													12	26					0	0	0.00185496	0	0
HYDIN	54768	broad.mit.edu	37	16	70884501	70884501	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:70884501C>T	ENST00000393567.2	-	74	12651	c.12501G>A	c.(12499-12501)ttG>ttA	p.L4167L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4167										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CATTGCAGATCAAATTAAAGT	0.443000													8	22					0	0	0.000442599	0	0
SLC30A9	10463	broad.mit.edu	37	4	42037347	42037347	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:42037347C>T	ENST00000264451.6	+	7	846	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	222					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGGAAATACCAAGGTATGGA	0.303000													20	55					0	0	0.00278032	0	0
GCNT4	51301	broad.mit.edu	37	5	74324903	74324903	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:74324903G>A	ENST00000322348.4	-	1	1821	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	320					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGTCTTGAACGATGGAGTTGT	0.408000													18	30					0	0	0.00229938	0	0
BTBD11	121551	broad.mit.edu	37	12	108013935	108013935	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:108013935G>A	ENST00000280758.5	+	11	3153	c.2625G>A	c.(2623-2625)gcG>gcA	p.A875A	BTBD11_ENST00000357167.4_Silent_p.A412A|BTBD11_ENST00000420571.2_Silent_p.A756A|BTBD11_ENST00000490090.2_Silent_p.A875A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	875						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTGAAAGCGAGCAAGGTAT	0.507000													18	41					0	0	0.00121646	0	0
GABRA4	2557	broad.mit.edu	37	4	46930372	46930372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:46930372C>T	ENST00000264318.3	-	9	2517	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	512					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTGCCAGATCCAGAAGGTGG	0.433000													39	93					0	0	0.000680045	0	0
OR13C3	138803	broad.mit.edu	37	9	107298427	107298427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107298427G>A	ENST00000374781.2	-	1	710	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATTGAGGGATATATCAGC	0.393000													25	89					0	0	0.000720815	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77529010	77529010	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:77529010G>A	ENST00000373304.3	-	3	526	c.234C>T	c.(232-234)ctC>ctT	p.L78L		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	78					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGACCACACGGAGAGGCAGTG	0.423000													7	9					0	0	0.000274275	0	0
MYOC	4653	broad.mit.edu	37	1	171621335	171621335	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:171621335C>T	ENST00000037502.5	-	1	476	c.417G>A	c.(415-417)gaG>gaA	p.E139E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	139					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTAGGCAGTCTCCAACTCTC	0.592000													29	66					0	0	0.000878237	0	0
FNDC1	84624	broad.mit.edu	37	6	159692442	159692442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:159692442G>A	ENST00000297267.9	+	23	5853	c.5653G>A	c.(5653-5655)Gag>Aag	p.E1885K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E1822K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1885						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)		GGGCTGGTACGAGTGTGGGGT	0.577000													5	11					0	0	0.000602214	0	0
PROL1	58503	broad.mit.edu	37	4	71275427	71275427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71275427C>T	ENST00000399575.2	+	3	556	c.382C>T	c.(382-384)Cct>Tct	p.P128S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	128	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.P128S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCTCCTATTCCTTTTTTTCT	0.433000													36	93					0	0	0.000692331	0	0
ANKH	56172	broad.mit.edu	37	5	14751205	14751205	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:14751205G>A	ENST00000284268.6	-	5	990	c.660C>T	c.(658-660)atC>atT	p.I220I	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.I22I	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	220					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTGTCAGGGATGATGTCGT	0.542000													18	40					0	0	0.000958276	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53639522	53639522	+	Missense_Mutation	SNP	G	G	A	rs151332923	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:53639522G>A	ENST00000262135.4	-	24	3559	c.3466C>T	c.(3466-3468)Cgc>Tgc	p.R1156C	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R1236C|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1190C|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1202C	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1236					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACGGTGAAGCGAAGGCTGGTA	0.517000													15	146					0	0	0.000308642	0	0
MCTP1	79772	broad.mit.edu	37	5	94275859	94275859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:94275859G>A	ENST00000515393.1	-	5	1101	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	MCTP1_ENST00000429576.2_Missense_Mutation_p.P147S|MCTP1_ENST00000312216.8_Missense_Mutation_p.P147S|MCTP1_ENST00000505208.1_Missense_Mutation_p.P147S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	368					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCATGGTCAGGATAATGAGGA	0.403000													45	94					0	0	0.000781405	0	0
ADCY8	114	broad.mit.edu	37	8	131859750	131859750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:131859750C>T	ENST00000286355.5	-	11	4514	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	808					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGTCAAAATCACACCACAGC	0.393000										HNSCC(32;0.087)			18	42					0	0	0.000958276	0	0
OR2A25	392138	broad.mit.edu	37	7	143771942	143771942	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143771942C>T	ENST00000408898.2	+	1	668	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F210F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGGAGCCTTCTTTTCCACTG	0.473000													35	66					0	0	0.000692331	0	0
DYRK2	8445	broad.mit.edu	37	12	68051932	68051932	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:68051932C>T	ENST00000344096.3	+	3	1658	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	DYRK2_ENST00000393555.3_Silent_p.L342L	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	415	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TAGCAGAGCTCCTGACGGGTT	0.552000													9	16					0	0	0.000442599	0	0
GRM3	2913	broad.mit.edu	37	7	86416063	86416063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:86416063G>A	ENST00000361669.2	+	3	2054	c.955G>A	c.(955-957)Ggc>Agc	p.G319S	GRM3_ENST00000394720.2_Missense_Mutation_p.G317S|GRM3_ENST00000439827.1_Missense_Mutation_p.G319S|GRM3_ENST00000536043.1_Missense_Mutation_p.G191S|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	319					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTGGCCTACGGCGCCATCAC	0.672000													12	20					0	0	0.00136819	0	0
ITGA8	8516	broad.mit.edu	37	10	15573138	15573138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:15573138G>A	ENST00000378076.3	-	28	3246	c.2893C>T	c.(2893-2895)Ccc>Tcc	p.P965S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	965					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGAGCATAGGGATCATTTTTT	0.338000													21	60					0	0	0.00188189	0	0
R3HDM1	23518	broad.mit.edu	37	2	136433040	136433040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:136433040C>T	ENST00000264160.4	+	19	2556	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L	R3HDM1_ENST00000410054.1_Missense_Mutation_p.S674L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.S730L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.S601L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.S600L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	729							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCCTATACTTCAGTGCCAACA	0.418000													24	68					0	0	0.00106085	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322296	67322296	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:67322296C>T	ENST00000360461.5	+	19	5982	c.3447C>T	c.(3445-3447)ccC>ccT	p.P1149P	PLEKHG4_ENST00000379344.3_Silent_p.P1149P|PLEKHG4_ENST00000450733.1_Silent_p.P1068P|PLEKHG4_ENST00000427155.2_Silent_p.P1149P	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	1149					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)		GCGGCCAGCCCTCTTTGAGTA	0.627000													11	20					0	0	0.000673444	0	0
ADAM18	8749	broad.mit.edu	37	8	39486947	39486947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:39486947G>A	ENST00000265707.5	+	7	622	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.E193K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	193	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTATAGTGGAAAAAGCTTT	0.318000													25	59					0	0	0.000878237	0	0
FOXK1	221937	broad.mit.edu	37	7	4798970	4798970	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:4798970C>T	ENST00000328914.4	+	7	1440	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	FOXK1_ENST00000446823.1_Silent_p.I317I	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	480					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCAGTGATCATGGCCGTGC	0.746000													7	10					0	0	0.000978159	0	0
FLNC	2318	broad.mit.edu	37	7	128478071	128478071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128478071C>T	ENST00000325888.8	+	6	1261	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	FLNC_ENST00000346177.6_Missense_Mutation_p.R334C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	334					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						TGACAAGGATCGCACCTATGC	0.537000													29	45					0	0	0.000814825	0	0
TEX26	122046	broad.mit.edu	37	13	31513914	31513914	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:31513914C>T	ENST00000380473.3	+	2	158	c.146_splice	c.e2+1	p.R49_splice		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	49																	TGCCTTAATTCGGTAGATCAT	0.383000													14	41					0	0	0.000422831	0	0
GBF1	8729	broad.mit.edu	37	10	104126904	104126904	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:104126904C>T	ENST00000369983.3	+	20	2753	c.2493C>T	c.(2491-2493)atC>atT	p.I831I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	831	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGCTGTCATCATGCTTAATA	0.493000													46	47					0	0	0.000781405	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475713	42475713	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:42475713G>A	ENST00000434000.1	-	9	3780	c.3498C>T	c.(3496-3498)ctC>ctT	p.L1166L	GPATCH8_ENST00000591680.1_Silent_p.L1244L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1244						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGGGTCGGGGAGGTAGTTAT	0.597000													70	85					0	0	0.000781405	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380147	380147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:380147G>A	ENST00000329962.6	+	17	2660	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	887						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGAGACGAACCGGGAAC	0.687000													5	13					0	0	0.00198382	0	0
TEX19	400629	broad.mit.edu	37	17	80320140	80320140	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:80320140C>T	ENST00000333437.4	+	2	424	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	38						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						TCACCTGCTTCAAGGCTGCCT	0.512000													43	116					0	0	0.000781405	0	0
GALNT14	79623	broad.mit.edu	37	2	31147628	31147628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:31147628C>T	ENST00000349752.5	-	12	1852	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	GALNT14_ENST00000406653.1_Missense_Mutation_p.E385K|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.E370K|GALNT14_ENST00000356174.3_Missense_Mutation_p.E372K|GALNT14_ENST00000324589.5_Missense_Mutation_p.E410K	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	405						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TAGATATTCTCCAGGTACCAC	0.532000													11	38					0	0	0.000308642	0	0
FAM131C	348487	broad.mit.edu	37	1	16386022	16386022	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:16386022C>G	ENST00000375662.4	-	6	712	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	177										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTGTTCTCGGGGTGCAGC	0.652000													5	14					0	0	0.000274275	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830919	43830919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:43830919G>A	ENST00000372458.3	-	3	292	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	ELOVL1_ENST00000413844.2_Missense_Mutation_p.R59C|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	59					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAAGCCACGGAGCTGGAAG	0.542000													28	32					0	0	0.001512	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830536	7830536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:7830536C>T	ENST00000327325.5	+	4	345	c.227C>T	c.(226-228)cCc>cTc	p.P76L	CLEC4M_ENST00000359059.5_Missense_Mutation_p.P55L|CLEC4M_ENST00000597522.1_Missense_Mutation_p.P76L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P55L|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P48L|CLEC4M_ENST00000596363.1_Missense_Mutation_p.P48L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P64L|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P76L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P55L|CLEC4M_ENST00000357361.2_Missense_Mutation_p.P76L	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	76					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TCCAAGGTCCCCAGCTCCCTA	0.498000													16	67					0	0	0.000958276	0	0
ABCC9	10060	broad.mit.edu	37	12	21998642	21998642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21998642C>T	ENST00000261200.4	-	24	2990	c.2991G>A	c.(2989-2991)atG>atA	p.M997I	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.M961I|ABCC9_ENST00000261201.4_Missense_Mutation_p.M997I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	997	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGAGAAAATCATCAGGATGA	0.438000													19	27					0	0	0.00152264	0	0
TRPC4	7223	broad.mit.edu	37	13	38211422	38211422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:38211422C>T	ENST00000379705.3	-	11	3409	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.R678Q|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.R856Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.R678Q|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	851	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTGTTTTGATCGTCTATGAAA	0.438000													17	33					0	0	0.00074312	0	0
CARS	833	broad.mit.edu	37	11	3047965	3047965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:3047965G>A	ENST00000397114.3	-	10	1191	c.815C>T	c.(814-816)tCc>tTc	p.S272F	CARS_ENST00000278224.9_Missense_Mutation_p.S282F|CARS_ENST00000401769.3_Missense_Mutation_p.S295F|CARS_ENST00000397111.5_Missense_Mutation_p.S282F|CARS_ENST00000380525.4_Missense_Mutation_p.S365F			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	282					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCCCATAGGAGTGCTTCTC	0.522000			T	ALK	ALCL								23	62					0	0	0.00047179	0	0
RGPD3	653489	broad.mit.edu	37	2	107041046	107041046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:107041046G>A	ENST00000409886.3	-	20	3464	c.3377C>T	c.(3376-3378)tCa>tTa	p.S1126L	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1126	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGCTCTATCTGATCCAGAGAG	0.428000													53	125					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9063888	9063888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9063888G>A	ENST00000397910.4	-	3	23761	c.23558C>T	c.(23557-23559)tCt>tTt	p.S7853F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7855	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						GGGCACTTTAGAGAGGACAGT	0.547000													11	29					0	0	0.000673444	0	0
ABCA12	26154	broad.mit.edu	37	2	215890416	215890416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:215890416G>A	ENST00000272895.7	-	11	1487	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	ABCA12_ENST00000389661.4_Missense_Mutation_p.P105L|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	423					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)		TAGGACTTCAGGAACTGGAGG	0.299000													25	51					0	0	0.00127121	0	0
ACTN2	88	broad.mit.edu	37	1	236912487	236912487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:236912487C>T	ENST00000366578.4	+	14	1745	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	ACTN2_ENST00000542672.1_Missense_Mutation_p.P527S|ACTN2_ENST00000546208.1_Missense_Mutation_p.P21S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	527					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGGGCTGCTCCTTTCAACAA	0.433000													23	61					0	0	0.00278032	0	0
COL4A5	1287	broad.mit.edu	37	X	107865086	107865086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:107865086G>A	ENST00000328300.6	+	32	2975	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	COL4A5_ENST00000361603.2_Missense_Mutation_p.G911R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	911	Triple-helical region.		G -> E (in APSX).		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						AGGACCTTTGGGAATTCCTGG	0.428000									Alport syndrome with Diffuse Leiomyomatosis				22	10					0	0	0.00188189	0	0
CCDC87	55231	broad.mit.edu	37	11	66359695	66359695	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:66359695G>A	ENST00000333861.3	-	1	859	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	264										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCCAGTGGAAAGGCTTTT	0.532000													16	19					0	0	0.000422831	0	0
MAPT	4137	broad.mit.edu	37	17	44039838	44039838	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:44039838T>C	ENST00000344290.5	+	2	455		c.e2+2		MAPT_ENST00000446361.3_Splice_Site|MAPT_ENST00000347967.5_Splice_Site|MAPT_ENST00000334239.8_Splice_Site|MAPT_ENST00000535772.1_Splice_Site|MAPT_ENST00000431008.3_Splice_Site|MAPT_ENST00000420682.2_Splice_Site|MAPT_ENST00000415613.2_Splice_Site|MAPT_ENST00000571987.1_Splice_Site|MAPT_ENST00000262410.5_Splice_Site|MAPT_ENST00000351559.5_Splice_Site|MAPT_ENST00000570299.1_Splice_Site|MAPT_ENST00000574436.1_Splice_Site|MAPT_ENST00000340799.5_Splice_Site	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau						cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCCTGAAAGGTTAGTGGACAG	0.527000													9	12					0	0	0.000274275	0	0
MS4A6A	64231	broad.mit.edu	37	11	59942973	59942973	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:59942973A>G	ENST00000528851.1	-	5	591	c.451T>C	c.(451-453)Ttg>Ctg	p.L151L	MS4A6A_ENST00000412309.2_Silent_p.L179L|MS4A6A_ENST00000323961.3_Silent_p.L151L|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000529054.1_Silent_p.L179L|MS4A6A_ENST00000426738.2_Silent_p.L106L|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000530839.1_Silent_p.L151L			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	151						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTTGTCCAACTCACACTGC	0.438000													13	21					0	0	0.00185496	0	0
BLK	640	broad.mit.edu	37	8	11406606	11406606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11406606C>T	ENST00000259089.4	+	5	935	c.343C>T	c.(343-345)Cga>Tga	p.R115*	BLK_ENST00000529894.1_Nonsense_Mutation_p.R44*	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	115	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTTTGTGGCCCGAGTGGAGAG	0.577000													6	12					0	0	0.00198382	0	0
INO80	54617	broad.mit.edu	37	15	41276081	41276081	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:41276081G>A	ENST00000361937.3	-	34	4540	c.4116C>T	c.(4114-4116)ccC>ccT	p.P1372P	INO80_ENST00000401393.3_Silent_p.P1372P			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1372	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTCGTCCAGGGGAATGGAGC	0.572000													17	20					0	0	0.00152264	0	0
OR8K1	390157	broad.mit.edu	37	11	56113937	56113937	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56113937C>T	ENST00000279783.2	+	1	517	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACGTGATCATCATGGCAGAGA	0.388000										HNSCC(65;0.19)			47	71					0	0	0.000680045	0	0
MEF2D	4209	broad.mit.edu	37	1	156437976	156437976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156437976G>A	ENST00000348159.4	-	11	1843	c.1363C>T	c.(1363-1365)Cct>Tct	p.P455S	MEF2D_ENST00000360595.3_Missense_Mutation_p.P448S|MEF2D_ENST00000353795.3_Missense_Mutation_p.P409S|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000340875.5_Missense_Mutation_p.P454S|MEF2D_ENST00000368240.2_Missense_Mutation_p.P448S	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	455	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACAGCTGGAGGGGGAGGCGCA	0.687000													9	20					0	0	0.000442599	0	0
GPN2	54707	broad.mit.edu	37	1	27216268	27216268	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27216268A>C	ENST00000374135.4	-	1	520	c.320T>G	c.(319-321)tTc>tGc	p.F107C		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	107							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GTCGAAGAGGAAGTAGTGGCC	0.662000													44	50					0	0	0.000781405	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36104692	36104692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:36104692G>A	ENST00000258840.6	-	32	4802	c.4412C>T	c.(4411-4413)tCt>tTt	p.S1471F	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1424F|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1424F|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1437F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1424	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATTGAGAACAGATTTTTCTGT	0.358000													11	11					0	0	0.000978159	0	0
GATA3-AS1	399717	broad.mit.edu	37	10	8093113	8093113	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:8093113G>A	ENST00000355358.1	-	0	1513					NR_024256.1																						TCGCCCCTGGGAGGGCGGGTG	0.627000													8	13					0	0	0.000442599	0	0
ASXL3	80816	broad.mit.edu	37	18	31323767	31323767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:31323767G>A	ENST00000269197.5	+	12	3955	c.3955G>A	c.(3955-3957)Gat>Aat	p.D1319N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1319	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGCTCCATGGATGATAAGCA	0.453000													60	127					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13769624C>T	ENST00000265104.4	-	57	9810	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome				50	99					0	0	0.000781405	0	0
PDZD2	23037	broad.mit.edu	37	5	32089406	32089406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:32089406C>T	ENST00000438447.1	+	20	6240	c.5852C>T	c.(5851-5853)cCc>cTc	p.P1951L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1951L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1951					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACAGCTGCCCCCAGGTCCCCC	0.577000													17	47					0	0	0.00074312	0	0
COBLL1	22837	broad.mit.edu	37	2	165551054	165551054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:165551054G>A	ENST00000375458.2	-	11	3069	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S	COBLL1_ENST00000342193.4_Missense_Mutation_p.P988S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P1026S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P1055S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P988S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1026										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GGAGCTATGGGAGGAGGGGAG	0.463000													12	37					0	0	0.00185496	0	0
ADGRG6	57211	broad.mit.edu	37	6	142737042	142737042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:142737042G>A	ENST00000230173.6	+	20	3255	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	GPR126_ENST00000367609.3_Missense_Mutation_p.D927N|GPR126_ENST00000296932.8_Missense_Mutation_p.D899N|GPR126_ENST00000367608.2_Missense_Mutation_p.D899N	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	927					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTTCAATGTGGATGGACTTTG	0.473000													57	120					0	0	0.000781405	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826976	96826976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:96826976C>T	ENST00000371270.3	-	3	564	c.470G>A	c.(469-471)aGa>aAa	p.R157K	CYP2C8_ENST00000539050.1_Missense_Mutation_p.R71K|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R55K	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	157					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CTTGGTTTTTCTCAACTCCTC	0.517000													52	49					0	0	0.000781405	0	0
RNF144A	9781	broad.mit.edu	37	2	7154674	7154674	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:7154674C>T	ENST00000320892.6	+	4	667	c.225C>T	c.(223-225)caC>caT	p.H75H	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	75						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AACAGGGCCACCTACAGGAGA	0.473000													21	44					0	0	0.00229938	0	0
CDKL5	6792	broad.mit.edu	37	X	18606210	18606210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:18606210C>T	ENST00000379989.3	+	10	976	c.691C>T	c.(691-693)Cca>Tca	p.P231S	CDKL5_ENST00000379996.3_Missense_Mutation_p.P231S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	231	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGGACCACTTCCATCTGAGCA	0.443000													122	54					0	0	0.000781405	0	0
C3orf67	200844	broad.mit.edu	37	3	58739519	58739519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:58739519G>A	ENST00000295966.7	-	15	2059	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	C3orf67_ENST00000482387.1_Missense_Mutation_p.S645F	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	511										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTTTCACAGGAATCTGGACG	0.388000													25	39					0	0	0.00209593	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829558	43829558	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43829558C>T	ENST00000319294.6	+	3	226	c.195C>T	c.(193-195)tcC>tcT	p.S65S	UBASH3A_ENST00000398367.1_Silent_p.S65S|UBASH3A_ENST00000450356.1_Silent_p.S65S|UBASH3A_ENST00000291535.6_Silent_p.S65S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	65						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGACCCTTCCCTAGACGACC	0.527000													17	80					0	0	0.00121646	0	0
BAGE2	85319	broad.mit.edu	37	21	11047490	11047490	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:11047490C>T	ENST00000470054.1	-	0	764									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTTGCATTTCCAGCCGTTGG	0.358000													10	226					0	0	0.00136819	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87459344	87459344	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:87459344G>A	ENST00000338056.3	+	12	1832	c.1421G>A	c.(1420-1422)tGa>tAa	p.*474*	RUNDC3B_ENST00000394654.3_Silent_p.*457*|RUNDC3B_ENST00000493037.1_Silent_p.*408*	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	0										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ACTCCATCCTGAAAATTTTTG	0.353000													15	45					0	0	0.000958276	0	0
ZNF714	148206	broad.mit.edu	37	19	21299951	21299951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:21299951C>T	ENST00000596143.1	+	5	806	c.481C>T	c.(481-483)Caa>Taa	p.Q161*	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACACCTACATCAACATAAAAG	0.323000													16	53					0	0	0.000566183	0	0
FAM13A	10144	broad.mit.edu	37	4	89671049	89671049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:89671049G>A	ENST00000264344.5	-	16	2159	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F	FAM13A_ENST00000503556.1_Missense_Mutation_p.S311F|FAM13A_ENST00000395002.2_Missense_Mutation_p.S325F|FAM13A_ENST00000513837.1_Missense_Mutation_p.S297F|FAM13A_ENST00000511976.1_Missense_Mutation_p.S237F|FAM13A_ENST00000508369.1_Missense_Mutation_p.S325F	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	651					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCCCAGAGAGGAGCTTCGCCG	0.547000													13	32					0	0	0.00185496	0	0
GORAB	92344	broad.mit.edu	37	1	170501292	170501292	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:170501292G>A	ENST00000367763.3	+	1	23	c.3G>A	c.(1-3)atG>atA	p.M1I	GORAB_ENST00000367762.1_Start_Codon_SNP_p.M1I|RP11-576I22.2_ENST00000456083.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	1						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AAACCCGGATGAGCTGGGCAG	0.662000													9	21					0	0	0.000274275	0	0
MROH2B	133558	broad.mit.edu	37	5	41054925	41054925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:41054925G>A	ENST00000399564.4	-	11	1501	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GAAATGATGTGATCCCTCAAC	0.373000													29	61					0	0	0.0024448	0	0
COL6A3	1293	broad.mit.edu	37	2	238303736	238303736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:238303736G>A	ENST00000295550.4	-	3	655	c.203C>T	c.(202-204)tCc>tTc	p.S68F	COL6A3_ENST00000347401.3_Missense_Mutation_p.S68F|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.S68F|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	68	Nonhelical region.|VWFA 1.				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)		CACAGCTAAGGATTTTACAAC	0.403000													15	29					0	0	0.000308642	0	0
CHAT	1103	broad.mit.edu	37	10	50828588	50828588	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:50828588C>T	ENST00000395562.2	+	5	850	c.381C>T	c.(379-381)gcC>gcT	p.A127A	CHAT_ENST00000351556.3_Silent_p.A91A|CHAT_ENST00000337653.2_Silent_p.A209A|CHAT_ENST00000455728.2_Silent_p.A91A|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Silent_p.A91A|CHAT_ENST00000395559.2_Silent_p.A91A	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	209					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)	ACCGCCTGGCCCTGCCTGTCA	0.602000													22	23					0	0	0.00152264	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144265	35144265	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:35144265G>A	ENST00000436258.1	-	0	1801																											CCTGTCGAGAGCATATCAAGG	0.368000													18	30					0	0	0.00188189	0	0
AGBL1	123624	broad.mit.edu	37	15	87531227	87531227	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:87531227A>G	ENST00000441037.2	+	23	3188	c.3093A>G	c.(3091-3093)tcA>tcG	p.S1031S	AGBL1_ENST00000389298.3_Silent_p.S762S|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Silent_p.S1031S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1031					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						gattaaaatcatccaatttcc	0.318000													197	78					0	0	0.000781405	0	0
C3	718	broad.mit.edu	37	19	6682022	6682022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6682022C>T	ENST00000245907.6	-	35	4372	c.4280G>A	c.(4279-4281)aGa>aAa	p.R1427K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1427	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGAGATGTATCTGTCAACACC	0.552000													30	61					0	0	0.0024448	0	0
TRPC1	7220	broad.mit.edu	37	3	142523420	142523420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:142523420G>A	ENST00000273482.6	+	11	2391	c.2000G>A	c.(1999-2001)tGg>tAg	p.W667*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.W701*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	701					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTCAGTAAGTGGATTTGCTCT	0.373000													24	49					0	0	0.001512	0	0
ITPR2	3709	broad.mit.edu	37	12	26811014	26811014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:26811014G>A	ENST00000381340.3	-	17	2352	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	646					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGAGTTACAGGGATAGCAGTG	0.338000													11	27					0	0	0.000978159	0	0
PBX1	5087	broad.mit.edu	37	1	164790786	164790786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:164790786C>T	ENST00000420696.2	+	8	1311	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	PBX1_ENST00000367897.1_Missense_Mutation_p.S337L|PBX1_ENST00000559240.1_Missense_Mutation_p.R284C|PBX1_ENST00000401534.1_Missense_Mutation_p.S337L|PBX1_ENST00000560641.1_Missense_Mutation_p.R270C|PBX1_ENST00000540236.1_Missense_Mutation_p.R375C|PBX1_ENST00000540246.1_Missense_Mutation_p.R270C	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	375					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						GGATACCCTTCGCCATGTTAT	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								23	51					0	0	0.00127121	0	0
CCDC141	285025	broad.mit.edu	37	2	179732807	179732807	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179732807G>A	ENST00000420890.2	-	16	2637	c.2520C>T	c.(2518-2520)ctC>ctT	p.L840L	CCDC141_ENST00000295723.5_Silent_p.L265L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	265	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTCTGTGGAGATGGTCTA	0.512000													16	50					0	0	0.00121646	0	0
BLK	640	broad.mit.edu	37	8	11406605	11406605	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11406605C>T	ENST00000259089.4	+	5	934	c.342C>T	c.(340-342)gcC>gcT	p.A114A	BLK_ENST00000529894.1_Silent_p.A43A	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	114	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ACTTTGTGGCCCGAGTGGAGA	0.577000													5	12					0	0	0.00116845	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67174403	67174403	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:67174403C>T	ENST00000312390.5	+	8	783	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000542590.1_Silent_p.L252L	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	252	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGCTGTACCTGCCCGAGTG	0.677000													39	54					0	0	0.00285205	0	0
DCLK1	9201	broad.mit.edu	37	13	36410263	36410263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:36410263C>T	ENST00000255448.4	-	8	1347	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	DCLK1_ENST00000379893.1_Missense_Mutation_p.G72D|DCLK1_ENST00000360631.3_Missense_Mutation_p.G379D	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	379					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)		AATCTGGAAGCCTTCCTCCGA	0.353000													34	103					0	0	0.000953801	0	0
RETNLB	84666	broad.mit.edu	37	3	108476028	108476028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:108476028C>T	ENST00000295755.6	-	1	203	c.5G>A	c.(4-6)gGg>gAg	p.G2E		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	2					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGAGGACGGCCCCATCCTGTA	0.522000													18	26					0	0	0.00152264	0	0
ACSF2	80221	broad.mit.edu	37	17	48551159	48551159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:48551159G>A	ENST00000427954.2	+	14	1727	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	ACSF2_ENST00000541920.1_Missense_Mutation_p.E377K|ACSF2_ENST00000300441.4_Missense_Mutation_p.E537K|ACSF2_ENST00000502667.1_Missense_Mutation_p.E524K|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Missense_Mutation_p.E494K			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	537					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GAAGGTGCAGGAAGTGCAGGT	0.532000													25	63					0	0	0.00106085	0	0
SHANK3	85358	broad.mit.edu	37	22	51160137	51160137	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:51160137C>T	ENST00000414786.2	+	21	4061	c.3834C>T	c.(3832-3834)tcC>tcT	p.S1278S	SHANK3_ENST00000262795.3_Silent_p.S1308S|SHANK3_ENST00000445220.2_Silent_p.S1294S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1308										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCTGTCGTCCAGCGATGAGG	0.672000													7	10					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179616439	179616439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179616439G>A	ENST00000360870.5	-	46	10910	c.10688C>T	c.(10687-10689)tCc>tTc	p.S3563F	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3558	Ig-like 21.						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)			CTCTAAGCTGGAAGAGTGATG	0.413000													47	60					0	0	0.000781405	0	0
SPATC1	375686	broad.mit.edu	37	8	145094817	145094817	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:145094817C>T	ENST00000377470.3	+	2	321	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SPATC1_ENST00000447830.2_Silent_p.F73F	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	73	Necessary for targeting centrosomes (By similarity).									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)			CAGGTGTCTTCCTGCCCCCGT	0.632000													15	44					0	0	0.000422831	0	0
NLRP9	338321	broad.mit.edu	37	19	56235485	56235485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56235485C>T	ENST00000332836.2	-	4	2047	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	674						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATTCTGAATCATGTCCAAAG	0.413000													12	20					0	0	0.00136819	0	0
ELTD1	64123	broad.mit.edu	37	1	79383582	79383582	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:79383582G>A	ENST00000370742.3	-	11	1678	c.1615C>T	c.(1615-1617)Cta>Tta	p.L539L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	539					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCTGGGCTTAGATAGCCAAAG	0.383000													106	109					0	0	0.000781405	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187627	58187627	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:58187627G>A	ENST00000318203.5	+	3	811	c.114G>A	c.(112-114)ggG>ggA	p.G38G		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	38					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAAGAAGGGATTTCTGAGT	0.383000													15	47					0	0	0.000422831	0	0
SLFN13	146857	broad.mit.edu	37	17	33772608	33772608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:33772608C>T	ENST00000285013.6	-	3	367	c.92G>A	c.(91-93)aGa>aAa	p.R31K	SLFN13_ENST00000542635.1_Missense_Mutation_p.R31K|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.R31K|SLFN13_ENST00000526861.1_Missense_Mutation_p.R31K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	31						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGCTTTTTTCTGTTTTCTTC	0.478000													44	59					0	0	0.00285205	0	0
MUC21	394263	broad.mit.edu	37	6	30955265	30955265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:30955265C>T	ENST00000376296.3	+	2	1554	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	438	Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGGGTCCAGT	0.577000													15	70					0	0	0.000422831	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778985	31778985	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:31778985G>A	ENST00000375654.4	-	2	954	c.765C>T	c.(763-765)atC>atT	p.I255I	HSPA1L_ENST00000417199.3_Silent_p.I255I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	255					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTTCTGGCTGATGTCCTTTT	0.587000													274	286					0	0	0.000781405	0	0
OR5M11	219487	broad.mit.edu	37	11	56310057	56310057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56310057C>T	ENST00000528616.2	-	1	700	c.677G>A	c.(676-678)cGg>cAg	p.R226Q		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGATTTGATCCGGAGGATGGC	0.493000													25	21					0	0	0.000586117	0	0
KRT24	192666	broad.mit.edu	37	17	38859395	38859395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:38859395C>T	ENST00000264651.2	-	1	607	c.551G>A	c.(550-552)gGa>gAa	p.G184E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	184	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCACCGTCTCCAGACCCAGG	0.438000													84	86					0	0	0.000781405	0	0
ATP2A1	487	broad.mit.edu	37	16	28912174	28912174	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:28912174G>A	ENST00000395503.4	+	15	2221	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	ATP2A1_ENST00000357084.3_Silent_p.V679V|ATP2A1_ENST00000536376.1_Silent_p.V554V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	679					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCGCCCGTGTGGAGCCCTCGC	0.637000													24	38					0	0	0.00127121	0	0
TLE4	7091	broad.mit.edu	37	9	82322050	82322050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:82322050G>A	ENST00000376520.4	+	12	1777	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	TLE4_ENST00000376552.2_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.G317R|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Intron			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGGGATATGGGGAAATTGAG	0.368000													80	99					0	0	0.000781405	0	0
SCAND3	114821	broad.mit.edu	37	6	28543043	28543043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:28543043C>T	ENST00000452236.2	-	3	2056	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	480	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AATCCTCTTTCGGATATCCTC	0.428000													27	94					0	0	0.000878237	0	0
KMT2E	55904	broad.mit.edu	37	7	104722179	104722179	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:104722179T>A	ENST00000334877.4	+	13	1827	c.1293T>A	c.(1291-1293)taT>taA	p.Y431*	KMT2E_ENST00000311117.3_Nonsense_Mutation_p.Y431*|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.Y431*|KMT2E_ENST00000476671.1_Nonsense_Mutation_p.Y431*					lysine (K)-specific methyltransferase 2E																		TTTATATTTATTCTATACACA	0.303000													45	93					0	0	0.000781405	0	0
DENND6A	201627	broad.mit.edu	37	3	57649398	57649398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:57649398G>A	ENST00000311128.5	-	5	548	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		GTTTTATCTCGAACTTGTCGG	0.308000													21	66					0	0	0.00127121	0	0
CSMD3	114788	broad.mit.edu	37	8	114111130	114111130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:114111130G>A	ENST00000297405.5	-	5	1016	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P218S|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.P258S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P258S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	258	CUB 2.					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						TACTCATTAGGAAAACTAGGG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	35					0	0	0.00074312	0	0
TP63	8626	broad.mit.edu	37	3	189604206	189604206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:189604206C>T	ENST00000264731.3	+	11	1462	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	TP63_ENST00000392463.2_Missense_Mutation_p.S364L|TP63_ENST00000456148.1_Missense_Mutation_p.S360L|TP63_ENST00000320472.5_Missense_Mutation_p.S458L|TP63_ENST00000449992.1_Missense_Mutation_p.S279L|TP63_ENST00000392461.3_Missense_Mutation_p.S364L|TP63_ENST00000354600.5_Missense_Mutation_p.S364L|TP63_ENST00000382063.4_Missense_Mutation_p.S373L|TP63_ENST00000392460.3_Missense_Mutation_p.S458L|TP63_ENST00000440651.2_Missense_Mutation_p.S454L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	458					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCCATCTTCATATGGTAAC	0.473000										HNSCC(45;0.13)			18	51					0	0	0.00047179	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965880	49965880	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:49965880G>A	ENST00000293350.4	+	8	1129	c.966G>A	c.(964-966)cgG>cgA	p.R322R	ALDH16A1_ENST00000433981.2_Silent_p.R157R|ALDH16A1_ENST00000540132.1_Silent_p.R159R|ALDH16A1_ENST00000455361.2_Silent_p.R271R	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	322							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)		CCATGAGACGGCTGCAGGAGC	0.652000													27	59					0	0	0.00178596	0	0
FAT4	79633	broad.mit.edu	37	4	126241933	126241933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126241933C>T	ENST00000394329.3	+	1	4380	c.4367C>T	c.(4366-4368)tCc>tTc	p.S1456F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1456	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTCAACTATCCTACACAATC	0.393000													25	58					0	0	0.000878237	0	0
IARS2	55699	broad.mit.edu	37	1	220312353	220312353	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:220312353A>G	ENST00000366922.1	+	18	2294	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G	IARS2_ENST00000302637.5_Missense_Mutation_p.R727G			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	727					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGAATAGCTTAGGAATACACT	0.333000													29	41					0	0	0.000814825	0	0
TRIM50	135892	broad.mit.edu	37	7	72732989	72732989	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72732989C>T	ENST00000333149.2	-	4	758	c.558G>A	c.(556-558)gtG>gtA	p.V186V	TRIM50_ENST00000453152.1_Silent_p.V186V	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	186						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TCTCCTCATCCACCAGGTGGT	0.662000													24	66					0	0	0.001512	0	0
KCNAB1	7881	broad.mit.edu	37	3	156249266	156249266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:156249266G>A	ENST00000302490.8	+	13	1967	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.E337K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.E384K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E373K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E355K	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	384						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACAACTCATTGAAAACCTTGG	0.512000													32	73					0	0	0.00058488	0	0
DNAH8	1769	broad.mit.edu	37	6	38862525	38862525	+	Nonsense_Mutation	SNP	C	C	T	rs149070832	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38862525C>T	ENST00000359357.3	+	57	8235	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2625*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2878*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTCAATCTTCGAGATCTTTC	0.393000													16	36					0	0	0.000566183	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6984794	6984794	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6984794C>T	ENST00000600751.1	-	0	321					NR_024075.1																						ATGTAACCTCCAACTTTATTC	0.353000													10	17					0	0	0.000673444	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:47535945C>T	ENST00000602212.1	+	5	697	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_ENST00000449844.2_Silent_p.F159F|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	46					0	0	0.00278032	0	0
SELP	6403	broad.mit.edu	37	1	169582930	169582930	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:169582930G>A	ENST00000263686.6	-	4	520	c.481_splice	c.e4-1	p.A161_splice	SELP_ENST00000367791.2_Splice_Site_p.A161_splice|SELP_ENST00000367792.2_Splice_Site_p.A161_splice|SELP_ENST00000367786.2_Splice_Site_p.A161_splice|SELP_ENST00000367788.2_Splice_Site_p.A161_splice|SELP_ENST00000458599.2_Splice_Site_p.A161_splice|SELP_ENST00000367794.2_Splice_Site_p.A161_splice|SELP_ENST00000367793.2_Splice_Site_p.A161_splice	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	161	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCTGGCAGGAGGCTGCATAGA	0.507000													19	25					0	0	0.000958276	0	0
OBSCN	84033	broad.mit.edu	37	1	228487623	228487623	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:228487623G>A	ENST00000570156.2	+	51	13589	c.13515G>A	c.(13513-13515)aaG>aaA	p.K4505K	OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.K1195K|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3548	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAAACCAGAAGGCCACAGAAG	0.522000													26	58					0	0	0.000878237	0	0
VCL	7414	broad.mit.edu	37	10	75854043	75854043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:75854043C>T	ENST00000211998.4	+	11	1461	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.S456F	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	456	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AAAGGAGATTCTCCAGAGGCT	0.512000													18	17					0	0	0.00278032	0	0
ERICH1	157697	broad.mit.edu	37	8	614675	614675	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:614675G>A	ENST00000262109.7	-	6	1337	c.1258_splice	c.e6-1	p.D420_splice	ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	420										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTCTGGCATGGTCTAGAAAGC	0.348000													25	77					0	0	0.000878237	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976780	47976780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47976780C>T	ENST00000543600.1	-	2	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	PTCHD4_ENST00000339488.4_Missense_Mutation_p.R166Q			Q6ZW05	CF138_HUMAN	patched domain containing 4	166						integral to membrane	hedgehog receptor activity										TGACTTGACCCGCTGATCTTT	0.493000													7	23					0	0	0.00198382	0	0
STXBP5L	9515	broad.mit.edu	37	3	121097680	121097680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:121097680G>A	ENST00000273666.6	+	22	2637	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	STXBP5L_ENST00000472879.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R789Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	789					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCACCATTTCGAAAGGCCCAG	0.398000													10	31					0	0	0.00136819	0	0
AXDND1	126859	broad.mit.edu	37	1	179398701	179398701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179398701G>A	ENST00000367618.3	+	13	1666	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	AXDND1_ENST00000457238.2_Missense_Mutation_p.E427K|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	427										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						TTACCTTAATGAAAAAGGCTG	0.318000													20	46					0	0	0.00278032	0	0
C2orf44	80304	broad.mit.edu	37	2	24261392	24261392	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:24261392T>A	ENST00000295148.4	-	2	1030	c.973A>T	c.(973-975)Aag>Tag	p.K325*	C2orf44_ENST00000406895.3_Nonsense_Mutation_p.K325*	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	325							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCCTTCTTAAAGGTCACA	0.413000			T	ALK	NSCLC								18	41					0	0	0.00188189	0	0
TG	7038	broad.mit.edu	37	8	133919002	133919002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133919002C>T	ENST00000220616.4	+	17	3744	c.3704C>T	c.(3703-3705)tCg>tTg	p.S1235L	TG_ENST00000377869.1_Missense_Mutation_p.S1235L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1235					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)		GAGACAATCTCGGGCCCCACA	0.622000													12	35					0	0	0.00244969	0	0
RBM19	9904	broad.mit.edu	37	12	114261086	114261086	+	Silent	SNP	G	G	A	rs140794490		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:114261086G>A	ENST00000545145.2	-	24	2904	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	RBM19_ENST00000392561.3_Silent_p.I942I|RBM19_ENST00000261741.5_Silent_p.I942I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	942					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGCTCCAGGATCTCGTCCA	0.632000													11	31					0	0	0.000978159	0	0
PIF1	80119	broad.mit.edu	37	15	65114806	65114806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:65114806C>T	ENST00000268043.4	-	3	656	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	PIF1_ENST00000333425.6_Missense_Mutation_p.A188T|PIF1_ENST00000559239.1_Missense_Mutation_p.A188T			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	188	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CACCTTGGGGCTTCCTGGGGG	0.617000													13	5					0	0	0.000308642	0	0
CACNA1C	775	broad.mit.edu	37	12	2714944	2714944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:2714944C>T	ENST00000399655.1	+	24	3413	c.3148C>T	c.(3148-3150)Ctc>Ttc	p.L1050F	CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1050F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1075F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1050F|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L1070F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1070F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1050F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1070					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGGGGTCCAGCTCTTCAAGGT	0.547000													6	27					0	0	0.00116845	0	0
COLGALT2	23127	broad.mit.edu	37	1	183909790	183909790	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:183909790A>G	ENST00000361927.4	-	11	1900	c.1529T>C	c.(1528-1530)cTg>cCg	p.L510P	COLGALT2_ENST00000367520.3_Missense_Mutation_p.L247P|COLGALT2_ENST00000546159.1_Missense_Mutation_p.L510P|COLGALT2_ENST00000367521.1_Missense_Mutation_p.L118P|COLGALT2_ENST00000486375.1_5'UTR	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		GGCTCCAACCAGCTTCTGTGC	0.542000													29	66					0	0	0.00127121	0	0
OR13D1	286365	broad.mit.edu	37	9	107457211	107457211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107457211G>A	ENST00000318763.5	+	1	552	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATCATGAACGGAGTGCTGTAT	0.512000													38	77					0	0	0.00111076	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119222389	119222389	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:119222389A>T	ENST00000494664.1	+	3	573	c.371A>T	c.(370-372)cAt>cTt	p.H124L	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	124						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAATCTGCACATCGTGCTGCC	0.408000													7	15					0	0	0.00198382	0	0
ESYT3	83850	broad.mit.edu	37	3	138192384	138192384	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:138192384G>A	ENST00000389567.4	+	19	2430	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	748						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACAGAGGTGGGGACCTCAGGC	0.562000													72	194					0	0	0.000781405	0	0
TMEM255B	348013	broad.mit.edu	37	13	114498161	114498161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:114498161C>T	ENST00000375353.3	+	4	320	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_182614.2	NP_872420.1			transmembrane protein 255B																		GGCGTGGTGGCCGCCTTCTGC	0.547000													22	21					0	0	0.000720815	0	0
ANXA9	8416	broad.mit.edu	37	1	150957108	150957108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:150957108G>A	ENST00000368947.4	+	7	904	c.428G>A	c.(427-429)cGa>cAa	p.R143Q		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	143					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTGCCACTCGAACCCCACCC	0.542000													15	25					0	0	0.000308642	0	0
PRKCQ	5588	broad.mit.edu	37	10	6483980	6483980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:6483980C>T	ENST00000263125.5	-	16	1810	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	PRKCQ_ENST00000397176.2_Intron|PRKCQ_ENST00000539722.1_Missense_Mutation_p.E446K	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	571	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						ATCAGCATTTCATAAAGGAGA	0.512000													12	46					0	0	0.00185496	0	0
BCAN	63827	broad.mit.edu	37	1	156617346	156617346	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:156617346C>T	ENST00000329117.4	+	4	849	c.513C>T	c.(511-513)tcC>tcT	p.S171S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S171S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	171	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCTTTCTCCTTTTCTGGGG	0.642000													7	20					0	0	0.000157383	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215542	134215542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:134215542G>A	ENST00000359579.4	+	2	534	c.214G>A	c.(214-216)Gac>Aac	p.D72N	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	72					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GAAGCGGGAGGACCTGTTCAT	0.517000													26	69					0	0	0.00127121	0	0
IL6ST	3572	broad.mit.edu	37	5	55265424	55265424	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:55265424G>A	ENST00000381298.2	-	4	636	c.324C>T	c.(322-324)ttC>ttT	p.F108F	IL6ST_ENST00000381287.4_Silent_p.F108F|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000502326.3_Silent_p.F108F|IL6ST_ENST00000522633.2_Silent_p.F108F|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000336909.5_Silent_p.F108F|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Silent_p.F108F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Silent_p.F108F	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	108	Ig-like C2-type.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CAAGCTGTCCGAATGTAAGAA	0.338000			O		hepatocellular ca								15	31					0	0	0.000422831	0	0
A2M	2	broad.mit.edu	37	12	9262611	9262611	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9262611G>A	ENST00000318602.7	-	6	832	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	175					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.I175I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCATTGTGCGATGCGATTTC	0.433000													49	97					0	0	0.000781405	0	0
COL5A1	1289	broad.mit.edu	37	9	137717651	137717651	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:137717651C>T	ENST00000371817.3	+	63	5382	c.4968C>T	c.(4966-4968)gtC>gtT	p.V1656V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1656	Fibrillar collagen NC1.				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)		AATACTGGGTCGATCCTAACC	0.557000													28	20					0	0	0.00127121	0	0
STAB2	55576	broad.mit.edu	37	12	104084258	104084258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:104084258C>T	ENST00000388887.2	+	30	3443	c.3239C>T	c.(3238-3240)tCt>tTt	p.S1080F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1080	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGTCTTCTTCTGACATGTTG	0.418000													34	52					0	0	0.00195071	0	0
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:45396681G>A	ENST00000303230.4	-	4	1200	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507000													18	35					0	0	0.000958276	0	0
FANCC	2176	broad.mit.edu	37	9	97873870	97873870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:97873870C>T	ENST00000289081.3	-	13	1458	c.1204G>A	c.(1204-1206)Gga>Aga	p.G402R	FANCC_ENST00000375305.1_Missense_Mutation_p.G402R	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	402					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TCAGCCCATCCTCCGAAGTGA	0.567000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				27	77					0	0	0.00209593	0	0
SPRY3	10251	broad.mit.edu	37	X	155004345	155004345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:155004345G>A	ENST00000302805.2	+	2	1243	c.812G>A	c.(811-813)aGa>aAa	p.R271K		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	271					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTGTGTGCAGAAAGATCTCT	0.562000													41	87					0	0	0.00128727	0	0
GPALPP1	55425	broad.mit.edu	37	13	45582997	45582997	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:45582997G>A	ENST00000357537.3	+	0	302				RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000361121.2_Missense_Mutation_p.D131N|KIAA1704_ENST00000379151.4_Missense_Mutation_p.D131N			Q8IXQ4	K1704_HUMAN												breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		CAAGGGCAGAGATGATCCAGG	0.363000													11	29					0	0	0.000308642	0	0
LEP	3952	broad.mit.edu	37	7	127894690	127894690	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:127894690G>A	ENST00000308868.4	+	3	429	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	126					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GTGGCCTGGAGACCTTGGACA	0.607000													9	37					0	0	0.000274275	0	0
TCTN2	79867	broad.mit.edu	37	12	124192218	124192218	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:124192218C>T	ENST00000303372.5	+	18	2180	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Silent_p.F683F	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	684					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGGCCTTGTTCCTCAGCAACC	0.448000													42	76					0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86469060	86469060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:86469060G>A	ENST00000361669.2	+	4	3329	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D616N|GRM3_ENST00000546348.1_Missense_Mutation_p.D336N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	744					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTTACCTACGATGTGATCCT	0.463000													16	35					0	0	0.000422831	0	0
OR3A2	4995	broad.mit.edu	37	17	3181445	3181445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:3181445C>T	ENST00000408891.2	-	1	823	c.785G>A	c.(784-786)gGa>gAa	p.G262E		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	262					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GATACCTCTTCCAAAGAAAAG	0.502000													19	24					0	0	0.00152264	0	0
TLR4	7099	broad.mit.edu	37	9	120470925	120470925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:120470925G>A	ENST00000355622.6	+	2	279	c.178G>A	c.(178-180)Gac>Aac	p.D60N	TLR4_ENST00000394487.4_Missense_Mutation_p.D20N|TLR4_ENST00000472304.1_Intron	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	60					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAAGAACCTGGACCTGAGCTT	0.433000													99	86					0	0	0.000781405	0	0
IYD	389434	broad.mit.edu	37	6	150713596	150713596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:150713596G>A	ENST00000344419.3	+	3	626	c.486G>A	c.(484-486)atG>atA	p.M162I	IYD_ENST00000229447.5_Missense_Mutation_p.M162I|IYD_ENST00000392256.2_Missense_Mutation_p.M162I|IYD_ENST00000425615.3_Missense_Mutation_p.M107I|IYD_ENST00000392255.3_Missense_Mutation_p.M162I|IYD_ENST00000500320.3_Missense_Mutation_p.M162I	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	162					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TCAACTACATGAAAAGGATGG	0.488000													12	30					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179596691	179596691	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179596691A>G	ENST00000589042.1	-	58	17135	c.16911T>C	c.(16909-16911)ccT>ccC	p.P5637P	TTN_ENST00000591111.1_Silent_p.P5320P|TTN_ENST00000342992.6_Silent_p.P4393P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5320	Ig-like 37.						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)			TGGTAAAATAAGGTGACTCTA	0.443000													17	56					0	0	0.00121646	0	0
DLK1	8788	broad.mit.edu	37	14	101200607	101200607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:101200607C>T	ENST00000341267.4	+	5	768	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	DLK1_ENST00000331224.6_Missense_Mutation_p.P176S	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	176	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAGCTGCACCCCCAACCCATG	0.662000													21	18					0	0	0.00152264	0	0
SPAG17	200162	broad.mit.edu	37	1	118570916	118570916	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:118570916G>A	ENST00000336338.5	-	26	3776	c.3711C>T	c.(3709-3711)ttC>ttT	p.F1237F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1237						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGTCCAATGAAAGTCAACA	0.448000													38	117					0	0	0.00170553	0	0
MORC1	27136	broad.mit.edu	37	3	108703568	108703568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:108703568C>T	ENST00000232603.5	-	23	2401	c.2319G>A	c.(2317-2319)tgG>tgA	p.W773*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.W752*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	773					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACCTTTTCCAGCTAGGTA	0.333000													7	27					0	0	0.00198382	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77529033	77529033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:77529033G>A	ENST00000373304.3	-	3	503	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	71					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CACACACAAAGTAGATCTGCT	0.433000													12	11					0	0	0.00185496	0	0
CAPSL	133690	broad.mit.edu	37	5	35910057	35910057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:35910057G>A	ENST00000397367.2	-	4	562	c.436C>T	c.(436-438)Cca>Tca	p.P146S	CAPSL_ENST00000397366.1_Missense_Mutation_p.P146S|CAPSL_ENST00000514524.1_Missense_Mutation_p.P146S	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	146	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGTACTTTGGGTGGTGTTTT	0.368000													41	108					0	0	0.000680045	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110376775	110376775	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110376775G>A	ENST00000378402.5	+	2	177		c.e2-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						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)			ATATTTTTCAGATGGCTCTCA	0.348000										HNSCC(38;0.096)			9	18					0	0	0.000442599	0	0
XIRP2	129446	broad.mit.edu	37	2	168104261	168104261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168104261C>T	ENST00000409195.1	+	9	6448	c.6359C>T	c.(6358-6360)aCc>aTc	p.T2120I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2120I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1898I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1945	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGGTAAAACCGTTGGAAAG	0.353000													9	37					0	0	0.000442599	0	0
TMCO4	255104	broad.mit.edu	37	1	20021023	20021023	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:20021023G>A	ENST00000294543.6	-	15	1645	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	TMCO4_ENST00000375122.2_Silent_p.F428F|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Silent_p.F468F	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	468						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGCGGTACACGAAACTCAGCA	0.632000													16	32					0	0	0.00121646	0	0
ANKK1	255239	broad.mit.edu	37	11	113270613	113270613	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:113270613T>A	ENST00000303941.3	+	8	2016	c.1922T>A	c.(1921-1923)gTg>gAg	p.V641E		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	641							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GAGGAGGCGGTGGTGTCAGCA	0.627000													6	11					0	0	0.00116845	0	0
KPRP	448834	broad.mit.edu	37	1	152733053	152733053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152733053C>T	ENST00000368773.1	+	2	1047	c.989C>T	c.(988-990)tCc>tTc	p.S330F	KPRP_ENST00000606109.1_Missense_Mutation_p.S330F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	330	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCGAGATTTCCTCCCCGTGC	0.632000													5	29					0	0	0.000602214	0	0
ITIH5	80760	broad.mit.edu	37	10	7608105	7608105	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:7608105G>A	ENST00000256861.6	-	13	2493	c.2415C>T	c.(2413-2415)gcC>gcT	p.A805A	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.A591A|ITIH5_ENST00000446830.2_Silent_p.A587A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	805					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGATGACAAAGGCTATGGAGC	0.602000													10	30					0	0	0.000673444	0	0
TRHR	7201	broad.mit.edu	37	8	110100443	110100443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110100443G>A	ENST00000518632.1	+	2	1053	c.702G>A	c.(700-702)tgG>tgA	p.W234*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W234*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	234						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTAAGACATGGAAAAATGATT	0.378000													11	30					0	0	0.000978159	0	0
MYOM2	9172	broad.mit.edu	37	8	2033405	2033405	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:2033405G>A	ENST00000262113.4	+	14	1668	c.1527G>A	c.(1525-1527)caG>caA	p.Q509Q	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	509					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGACGCCCAGGTTCCAGGGC	0.627000													5	30					0	0	0.00116845	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7806666	7806666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:7806666G>A	ENST00000443676.1	+	3	144	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	ZNF705B_ENST00000400120.3_Missense_Mutation_p.E10K			P0CI00	Z705L_HUMAN	zinc finger protein 705B	10	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						AGTGACTTTTGAAGATGTAGC	0.408000													41	75					0	0	0.000781405	0	0
AKNA	80709	broad.mit.edu	37	9	117143571	117143571	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:117143571G>A	ENST00000307564.4	-	2	204	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	AKNA_ENST00000312033.3_Silent_p.L15L|AKNA_ENST00000374088.3_Silent_p.L15L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCCTTCCCCAGGCCAGGCTCA	0.632000													4	14					0	0	0.00024832	0	0
CLU	1191	broad.mit.edu	37	8	27462697	27462697	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:27462697G>A	ENST00000316403.10	-	5	978	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CLU_ENST00000405140.3_Silent_p.F191F|CLU_ENST00000523500.1_Silent_p.F191F|CLU_ENST00000546343.1_Silent_p.F202F|CLU_ENST00000560366.1_Silent_p.F243F			P10909	CLUS_HUMAN	clusterin	191					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ACCTGTCCTGGAAGAGCTCGT	0.612000													6	23					0	0	0.000157383	0	0
KL	9365	broad.mit.edu	37	13	33635671	33635671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:33635671G>T	ENST00000380099.3	+	4	2463	c.2455G>T	c.(2455-2457)Gaa>Taa	p.E819*	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	819	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTCAGAAAAAGAAGATCCAAT	0.428000													17	35					2.48551e-13	9.70265e-13	0.000566183	1	0
TBX15	6913	broad.mit.edu	37	1	119427676	119427676	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:119427676G>A	ENST00000369429.3	-	8	1497	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	TBX15_ENST00000207157.3_Silent_p.F390F			Q96SF7	TBX15_HUMAN	T-box 15	496						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGCTGCCCCCGAACATGTGTG	0.552000													19	15					0	0	0.000958276	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206777	70206777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70206777C>T	ENST00000550536.1	+	10	1769	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	RAB3IP_ENST00000550847.1_Nonsense_Mutation_p.R129*|RAB3IP_ENST00000483530.2_Silent_p.F388F|AC025263.3_ENST00000550437.1_Nonsense_Mutation_p.R63*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.R216*|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.R422*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.R216*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.R216*|RAB3IP_ENST00000362025.5_Silent_p.F404F	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	438					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TACATACATTCGATACATTCA	0.333000													41	89					0	0	0.000781405	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719247	140719247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140719247G>A	ENST00000394576.2	+	1	709	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCGAACGACAATGCGCC	0.587000													15	42					0	0	0.000422831	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321894	79321894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:79321894G>A	ENST00000428286.1	-	8	5419	c.4219C>T	c.(4219-4221)Ccc>Tcc	p.P1407S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1766S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1766					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAAGTCCAGGGATCAGGGCTG	0.438000													16	46					0	0	0.000566183	0	0
PIK3CB	5291	broad.mit.edu	37	3	138384011	138384011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:138384011G>A	ENST00000477593.1	-	19	2612	c.2539C>T	c.(2539-2541)Cgc>Tgc	p.R847C	PIK3CB_ENST00000544716.1_Missense_Mutation_p.R298C|PIK3CB_ENST00000289153.2_Missense_Mutation_p.R847C			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	847	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R847G(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCCAGAGCGATCTCCTGTT	0.418000													116	234					0	0	0.000781405	0	0
TPTE	7179	broad.mit.edu	37	21	10934955	10934955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:10934955G>A	ENST00000298232.7	-	14	1151	c.784C>T	c.(784-786)Cga>Tga	p.R262*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R242*|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R280*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R262*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTAGACTCGATAGTGGTTT	0.333000													15	156					0	0	0.000958276	0	0
ZNF800	168850	broad.mit.edu	37	7	127013995	127013995	+	Silent	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:127013995A>T	ENST00000393313.1	-	5	1986	c.1395T>A	c.(1393-1395)gcT>gcA	p.A465A	ZNF800_ENST00000265827.3_Silent_p.A465A|ZNF800_ENST00000393312.1_Silent_p.A465A			Q2TB10	ZN800_HUMAN	zinc finger protein 800	465					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						GGCCACCTGCAGCCGACGGAC	0.388000													44	72					0	0	0.000781405	0	0
KCNIP1	30820	broad.mit.edu	37	5	169931626	169931626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:169931626G>A	ENST00000328939.4	+	1	587	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	KCNIP1_ENST00000390656.4_Missense_Mutation_p.R17Q|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000411494.1_Missense_Mutation_p.R17Q|KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000434108.1_Missense_Mutation_p.R17Q	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	17					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAAAGGCGACCCTCGAAA	0.632000													16	43					0	0	0.000422831	0	0
DDX43	55510	broad.mit.edu	37	6	74115448	74115448	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:74115448A>G	ENST00000370336.4	+	6	855	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	233						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGATGGGGAGAAACGACCTAT	0.393000													6	24					0	0	0.00198382	0	0
MYH1	4619	broad.mit.edu	37	17	10408571	10408571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10408571C>T	ENST00000226207.5	-	21	2438	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	782	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGCTTCTCATCTCGCATCTCC	0.458000													17	21					0	0	0.00074312	0	0
IGSF10	285313	broad.mit.edu	37	3	151155338	151155338	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151155338C>T	ENST00000282466.3	-	6	7010	c.7011G>A	c.(7009-7011)ccG>ccA	p.P2337P	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2337	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTAAATGTCGGTCTTCTCA	0.433000													24	73					0	0	0.000586117	0	0
MCTP1	79772	broad.mit.edu	37	5	94275892	94275892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:94275892C>T	ENST00000515393.1	-	5	1068	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	MCTP1_ENST00000429576.2_Missense_Mutation_p.D136N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D136N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D136N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	357					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGGTCACATCTGTGGGCCTG	0.333000													30	63					0	0	0.001512	0	0
CECR2	27443	broad.mit.edu	37	22	18028630	18028630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:18028630C>T	ENST00000262608.8	+	16	3590	c.3590C>T	c.(3589-3591)cCc>cTc	p.P1197L	CECR2_ENST00000400585.2_Missense_Mutation_p.P1054L|CECR2_ENST00000400573.4_Missense_Mutation_p.P1196L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1238					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCTCCATCCCCAGGGAAGC	0.582000													11	27					0	0	0.000673444	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283782	151283782	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:151283782G>A	ENST00000509345.2	-	0	554																											TCCATAGAGTGAAATCGATGG	0.607000													27	18					0	0	0.000878237	0	0
TMC5	79838	broad.mit.edu	37	16	19460898	19460898	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:19460898C>T	ENST00000396229.2	+	5	1742	c.993C>T	c.(991-993)gtC>gtT	p.V331V	TMC5_ENST00000541464.1_Silent_p.V331V|TMC5_ENST00000381414.4_Silent_p.V331V|TMC5_ENST00000542583.2_Silent_p.V331V	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	331						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGTCCTGTCCATGCTTATG	0.478000													34	100					0	0	0.000814825	0	0
B3GNT4	79369	broad.mit.edu	37	12	122690865	122690865	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:122690865G>A	ENST00000324189.4	+	3	423	c.66_splice	c.e3-1	p.G23_splice	B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000546192.1_5'UTR|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	23					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CTCCTTGCAGGGACCGGCGAT	0.662000													11	23					0	0	0.00136819	0	0
MYH1	4619	broad.mit.edu	37	17	10402058	10402058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10402058C>T	ENST00000226207.5	-	30	4160	c.4066G>A	c.(4066-4068)Gaa>Aaa	p.E1356K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1356						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTTGGCTTCCTGCTCCTCC	0.567000													42	43					0	0	0.00285205	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482885	54482885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:54482885C>T	ENST00000317802.7	-	1	524	c.404G>A	c.(403-405)gGg>gAg	p.G135E	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	135					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTCCGACCTCCCTGCCCCACA	0.597000													20	33					0	0	0.00188189	0	0
ABCA13	154664	broad.mit.edu	37	7	48313737	48313737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:48313737C>T	ENST00000435803.1	+	17	4498	c.4474C>T	c.(4474-4476)Ctt>Ttt	p.L1492F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1492					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTATTAGCTCTTTTAAATGA	0.289000													10	16					0	0	0.000673444	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528960	16528960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:16528960G>A	ENST00000270747.3	-	13	2153	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	673	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCGTGGAGGAGCTGGAGG	0.647000													4	11					0	0	0.00024832	0	0
AFF4	27125	broad.mit.edu	37	5	132227973	132227973	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:132227973G>A	ENST00000265343.5	-	13	2899	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	AFF4_ENST00000378595.3_Silent_p.S840S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	840	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGACTTTAAGGAAGAAGACT	0.463000													49	102					0	0	0.000781405	0	0
MAEL	84944	broad.mit.edu	37	1	166959042	166959042	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:166959042G>A	ENST00000367872.4	+	2	445	c.201G>A	c.(199-201)aaG>aaA	p.K67K	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	67					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTCAGGGAAAGGACCCTGGGC	0.502000													11	37					0	0	0.00185496	0	0
OMA1	115209	broad.mit.edu	37	1	59002379	59002379	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:59002379T>A	ENST00000371226.3	-	3	648	c.535A>T	c.(535-537)Aac>Tac	p.N179Y	OMA1_ENST00000358603.2_Missense_Mutation_p.N179Y|OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	179					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCCTTCTTGTTAGGAGGAAGT	0.348000													30	105					0	0	0.000692331	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10912726	10912726	+	Silent	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:10912726C>A	ENST00000381661.3	+	8	737	c.628C>A	c.(628-630)Cga>Aga	p.R210R	ATP6V1C2_ENST00000272238.4_Silent_p.R210R	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	210					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.R210R(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGTGGTCCCTCGATCAACCAA	0.512000													6	212					0.00116845	0.0045107	0.00116845	1	0
SERPINB12	89777	broad.mit.edu	37	18	61234211	61234211	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61234211C>T	ENST00000382768.1	+	7	1245	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	SERPINB12_ENST00000269491.1_Silent_p.T395T			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	395					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAACCCAAACCATTCTCTTTT	0.453000													25	50					0	0	0.00106085	0	0
USHBP1	83878	broad.mit.edu	37	19	17370418	17370418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:17370418C>T	ENST00000252597.3	-	6	1065	c.892G>A	c.(892-894)Gag>Aag	p.E298K	USHBP1_ENST00000431146.2_Missense_Mutation_p.E234K	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	298							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CGGAGTTGCTCCATCTGGGCT	0.567000													68	149					0	0	0.000781405	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966498	58966498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:58966498G>A	ENST00000391696.1	+	3	1089	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	204	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGCCTGCCCTGGTCCTCTCCT	0.582000													8	28					0	0	0.000157383	0	0
OR7E24	26648	broad.mit.edu	37	19	9362289	9362289	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9362289G>A	ENST00000456448.1	+	1	684	c.570G>A	c.(568-570)gtG>gtA	p.V190V		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCAAGGATGTGGACATTTCTA	0.403000													15	31					0	0	0.00244969	0	0
TUSC5	286753	broad.mit.edu	37	17	1183440	1183440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:1183440G>A	ENST00000333813.3	+	1	484	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	49					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACCCTCTCGGGGCCTCTGGA	0.637000													20	21					0	0	0.00229938	0	0
EVPL	2125	broad.mit.edu	37	17	74019640	74019640	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:74019640G>A	ENST00000301607.3	-	3	547	c.294C>T	c.(292-294)ttC>ttT	p.F98F	EVPL_ENST00000586740.1_Silent_p.F98F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	98	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACGTCCAGGAAGAGGTCCT	0.662000													20	25					0	0	0.00188189	0	0
NOS1	4842	broad.mit.edu	37	12	117665347	117665347	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:117665347G>A	ENST00000317775.6	-	23	4190	c.3505C>T	c.(3505-3507)Ctg>Ttg	p.L1169L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L1203L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1169	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTGGGTCAGGAGCAGGGTG	0.582000													28	60					0	0	0.00111076	0	0
PER3	8863	broad.mit.edu	37	1	7886711	7886711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:7886711C>T	ENST00000377532.3	+	16	2353	c.2129C>T	c.(2128-2130)cCc>cTc	p.P710L	PER3_ENST00000361923.2_Missense_Mutation_p.P702L|RP3-467L1.4_ENST00000451646.1_RNA			P56645	PER3_HUMAN	period circadian clock 3	702	CSNK1E binding domain (By similarity).				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)		CTGTCATCACCCTACAGCTCC	0.388000													9	17					0	0	0.000978159	0	0
KDR	3791	broad.mit.edu	37	4	55956220	55956220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:55956220C>T	ENST00000263923.4	-	23	3390	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032Q(2)		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)	GAGGATATTTCGTGCCGCCAG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			29	55					0	0	0.0024448	0	0
FAM214B	80256	broad.mit.edu	37	9	35107468	35107468	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:35107468G>A	ENST00000378561.1	-	2	3859	c.804C>T	c.(802-804)tcC>tcT	p.S268S	FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000378554.2_Silent_p.S268S|FAM214B_ENST00000378557.1_Silent_p.S268S|FAM214B_ENST00000603301.1_Silent_p.S268S|FAM214B_ENST00000322813.5_Silent_p.S268S|FAM214B_ENST00000605244.1_Silent_p.S268S|FAM214B_ENST00000488109.2_Silent_p.S268S			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	268						nucleus											GGTGGCCCAGGGATCCCCGGC	0.637000													40	42					0	0	0.000680045	0	0
HMCN1	83872	broad.mit.edu	37	1	186008000	186008000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:186008000C>T	ENST00000271588.4	+	38	6120	c.5891C>T	c.(5890-5892)tCc>tTc	p.S1964F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1964F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1964	Ig-like C2-type 17.				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						CTCTCAGGTTCCACCAGCATG	0.363000													23	67					0	0	0.000878237	0	0
BNC2	54796	broad.mit.edu	37	9	16437449	16437449	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:16437449A>T	ENST00000380672.4	-	6	800	c.743T>A	c.(742-744)tTt>tAt	p.F248Y	BNC2_ENST00000380666.2_Missense_Mutation_p.F248Y|BNC2_ENST00000545497.1_Missense_Mutation_p.F153Y|BNC2_ENST00000380667.2_Missense_Mutation_p.F181Y	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAACCGCAGAAACTGCTGAAG	0.502000													18	27					0	0	0.00074312	0	0
APOB	338	broad.mit.edu	37	2	21230775	21230775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:21230775G>A	ENST00000233242.1	-	26	9092	c.8965C>T	c.(8965-8967)Caa>Taa	p.Q2989*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2989					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTTGTGATTGAATTTCAAGT	0.428000													173	353					0	0	0.000781405	0	0
LAMA3	3909	broad.mit.edu	37	18	21426417	21426417	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:21426417C>T	ENST00000313654.9	+	31	4117	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I	LAMA3_ENST00000399516.3_Silent_p.I1292I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1292	Domain III B.|Laminin EGF-like 9.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.I1292I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAACGTCATCGGGCGGCAGT	0.657000													6	15					0	0	0.00198382	0	0
AADACL2	344752	broad.mit.edu	37	3	151475216	151475216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:151475216G>A	ENST00000356517.3	+	5	1149	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	347						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATGATGGACTTATGTAT	0.378000													26	61					0	0	0.00106085	0	0
XIRP2	129446	broad.mit.edu	37	2	168107053	168107053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:168107053G>A	ENST00000409195.1	+	9	9240	c.9151G>A	c.(9151-9153)Gaa>Aaa	p.E3051K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3051K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2829K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2876					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGTCTTGATGAAACATCATC	0.353000													42	79					0	0	0.000781405	0	0
SSTR5	6755	broad.mit.edu	37	16	1129186	1129186	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:1129186C>T	ENST00000293897.4	+	1	406	c.318C>T	c.(316-318)ccC>ccT	p.P106P	SSTR5_ENST00000562758.1_Silent_p.P106P|SSTR5_ENST00000397547.2_Silent_p.P106P	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	106					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCTTCTGGCCCTTCGGCCCCG	0.627000													16	24					0	0	0.000958276	0	0
PRRT3	285368	broad.mit.edu	37	3	9991216	9991216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:9991216C>T	ENST00000412055.1	-	2	713	c.584G>A	c.(583-585)aGg>aAg	p.R195K	PRRT3_ENST00000411976.2_Missense_Mutation_p.R195K|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	195						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGGTGGGACCCTGCTCTTAGT	0.597000													14	18					0	0	0.000308642	0	0
FMN2	56776	broad.mit.edu	37	1	240492397	240492397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:240492397G>A	ENST00000319653.9	+	9	4467	c.4237G>A	c.(4237-4239)Gaa>Aaa	p.E1413K	FMN2_ENST00000545751.1_Missense_Mutation_p.E9K	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1413	FH2.				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)			AGACGAACTCGAAAAAATAGA	0.378000													23	64					0	0	0.00229938	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390527	61390527	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:61390527G>A	ENST00000544088.1	+	0	1135				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTGTAAAAAGCCTACCAATG	0.502000													22	42					0	0	0.00278032	0	0
STXBP4	252983	broad.mit.edu	37	17	53084923	53084923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:53084923C>T	ENST00000376352.2	+	8	838	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	STXBP4_ENST00000405898.1_Missense_Mutation_p.P211S|STXBP4_ENST00000434978.2_Missense_Mutation_p.P211S|STXBP4_ENST00000398391.2_Missense_Mutation_p.P136S|STXBP4_ENST00000299341.4_Missense_Mutation_p.P136S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	211						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTCCCTAAATCCCTCTGTTCG	0.368000													157	512					0	0	0.000781405	0	0
ANTXR1	84168	broad.mit.edu	37	2	69240670	69240670	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:69240670C>T	ENST00000303714.4	+	1	361	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ANTXR1_ENST00000409829.3_Silent_p.F13F|ANTXR1_ENST00000409349.3_Silent_p.F13F	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	13					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCATCGGCTTCCAGTGGCTCT	0.692000									Familial Infantile Hemangioma				6	10					0	0	0.00198382	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233494	56233494	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:56233494G>A	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CAAGACCCACGGACTCCTGGT	0.537000													5	11					0	0	0.000602214	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518733	113518733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:113518733G>A	ENST00000284601.3	-	4	2482	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	805					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCTAAACGTGATTCCTTTTC	0.383000													18	36					0	0	0.000958276	0	0
C10orf118	55088	broad.mit.edu	37	10	115891749	115891749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:115891749G>A	ENST00000369287.3	-	11	2116	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	C10orf118_ENST00000543782.1_Missense_Mutation_p.S215F	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	617										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCACTACAGGAAACTTTATC	0.333000													28	39					0	0	0.00178596	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691392	157691392	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:157691392C>T	ENST00000389413.3	-	11	1777	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	PTPRN2_ENST00000389416.4_Silent_p.L570L|PTPRN2_ENST00000389418.4_Silent_p.L587L|PTPRN2_ENST00000409483.1_Silent_p.L549L|PTPRN2_ENST00000404321.2_Silent_p.L610L	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	587						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GAAGAATTTTCAGTCCAGAGG	0.522000													72	145					0	0	0.000781405	0	0
FABP9	646480	broad.mit.edu	37	8	82373741	82373741	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:82373741C>A	ENST00000379071.2	-	1	73	c.18G>T	c.(16-18)ttG>ttT	p.L6F	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	6							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCCAGGTTCCCAAGAAGGGCT	0.403000													6	140					0.00198382	0.00762708	0.00198382	1	0
ATP1A2	477	broad.mit.edu	37	1	160105045	160105045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:160105045C>T	ENST00000361216.3	+	15	2164	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.P692L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	692					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGAACGTCTCCCCAGCAGAAG	0.597000													21	45					0	0	0.00047179	0	0
ORAI1	84876	broad.mit.edu	37	12	122079438	122079438	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:122079438G>A	ENST00000330079.7	+	2	994	c.801G>A	c.(799-801)aaG>aaA	p.K267K		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	265					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		TTAGCCATAAGACTGACCGAC	0.622000													19	62					0	0	0.00152264	0	0
GSX2	170825	broad.mit.edu	37	4	54967785	54967785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:54967785G>A	ENST00000326902.2	+	2	925	c.611G>A	c.(610-612)aGg>aAg	p.R204K	GSX2_ENST00000503800.1_Missense_Mutation_p.G134R|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	204						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AATGGCAAGAGGATGAGGACG	0.587000													20	41					0	0	0.00229938	0	0
TSIX	9383	broad.mit.edu	37	X	73047456	73047456	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:73047456G>A	ENST00000604411.1	+	0	35417				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAAAACGAACGAGAAGGGGAA	0.398000													6	0					0	0	0.00116845	0	0
KMT2B	9757	broad.mit.edu	37	19	36218489	36218489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:36218489C>T	ENST00000222270.7	+	16	4268	c.4268C>T	c.(4267-4269)tCc>tTc	p.S1423F	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.S1423F	NM_014727.1	NP_055542.1																					CTGCTGAGCTCCAAGGTGGTG	0.741000													7	17					0	0	0.000157383	0	0
OR14C36	127066	broad.mit.edu	37	1	248512472	248512472	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248512472G>A	ENST00000317861.1	+	1	396	c.396G>A	c.(394-396)gtG>gtA	p.V132V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACTACCCTGTGATCGTGAACT	0.507000													19	34					0	0	0.00229938	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704083	60704083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:60704083G>A	ENST00000005286.4	+	11	2932	c.2779G>A	c.(2779-2781)Gag>Aag	p.E927K	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E926K	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	926	Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGCCCCTGTGAGAGTGGGGG	0.726000													4	9					0	0	0.000602214	0	0
ZNF318	24149	broad.mit.edu	37	6	43322558	43322558	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:43322558G>A	ENST00000361428.2	-	4	2591	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ZNF318_ENST00000318149.3_Silent_p.I838I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	838					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCACAGTGGGGATCACACGAA	0.512000													16	47					0	0	0.00152264	0	0
ANXA10	11199	broad.mit.edu	37	4	169099070	169099070	+	Silent	SNP	G	G	A	rs145284874	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:169099070G>A	ENST00000359299.3	+	8	750	c.564G>A	c.(562-564)acG>acA	p.T188T		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	188							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGCAGAAGACGGGGGAGCACA	0.502000													26	49					0	0	0.00127121	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123201852	123201852	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:123201852C>G	ENST00000349780.4	-	24	3726	c.3547G>C	c.(3547-3549)Gtg>Ctg	p.V1183L	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V1151L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V1183L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V1142L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1183	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGGATTTTCACGTGTTTCACG	0.522000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	60					0	0	0.000602214	0	0
HYDIN	54768	broad.mit.edu	37	16	70926327	70926327	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:70926327G>A	ENST00000393567.2	-	56	9504	c.9354C>T	c.(9352-9354)gtC>gtT	p.V3118V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3118										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAAAACTTGGACATTTGTGG	0.473000													21	71					0	0	0.00188189	0	0
C10orf12	26148	broad.mit.edu	37	10	98742252	98742252	+	Missense_Mutation	SNP	G	G	A	rs139771197		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:98742252G>A	ENST00000286067.2	+	1	1212	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	369										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGCTTTTCCGGGGGAGTCAG	0.488000													26	40					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9065348	9065348	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9065348C>T	ENST00000397910.4	-	3	22301	c.22098G>A	c.(22096-22098)gaG>gaA	p.E7366E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7368	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						GAGTGGTTATCTCTGAGTGTG	0.498000													7	40					0	0	0.00198382	0	0
OSBP2	23762	broad.mit.edu	37	22	31091508	31091508	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:31091508C>T	ENST00000332585.6	+	1	716	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OSBP2_ENST00000446658.2_Silent_p.F204F|OSBP2_ENST00000382310.3_Silent_p.F204F|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	204	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCCGCTGGTTCGTGCTGGGCA	0.602000													23	59					0	0	0.000878237	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989507	121989507	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:121989507C>T	ENST00000263707.5	-	13	1333	c.1236G>A	c.(1234-1236)ttG>ttA	p.L412L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	412					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAATCAGCTCCAAGGTGGTCA	0.592000													22	54					0	0	0.00106085	0	0
DRD2	1813	broad.mit.edu	37	11	113286233	113286233	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:113286233C>T	ENST00000362072.3	-	5	977	c.633G>A	c.(631-633)aaG>aaA	p.K211K	DRD2_ENST00000544518.1_Silent_p.K210K|DRD2_ENST00000538967.1_Silent_p.K211K|DRD2_ENST00000355319.2_Silent_p.K211K|DRD2_ENST00000542968.1_Silent_p.K211K|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Silent_p.K211K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	211	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAATGTAGATCTTGATGTAGA	0.562000													25	28					0	0	0.000586117	0	0
OR6B3	150681	broad.mit.edu	37	2	240985208	240985208	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:240985208G>A	ENST00000319423.4	-	1	281	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCACCCGACGAAAGAGATGC	0.567000													10	22					0	0	0.000308642	0	0
GPR115	221393	broad.mit.edu	37	6	47682214	47682214	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47682214C>T	ENST00000283303.2	+	6	1491	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	GPR115_ENST00000371220.1_Silent_p.V468V|GPR115_ENST00000327753.3_Silent_p.V411V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	411					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCTCAGCGTCTCAATCCTAA	0.488000													17	36					0	0	0.000566183	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562928	140562928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140562928C>T	ENST00000361016.2	+	1	1949	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		265	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S265C(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGTCTCCGCCAGGGAT	0.478000													19	46					0	0	0.00152264	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560508	44560508	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:44560508G>A	ENST00000332567.4	-	1	1480	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	376					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGGCTGCTCGAATTCCTCAG	0.507000													21	47					0	0	0.00229938	0	0
BRD8	10902	broad.mit.edu	37	5	137500762	137500762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:137500762G>A	ENST00000254900.5	-	12	1743	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	BRD8_ENST00000230901.5_Missense_Mutation_p.P531S|BRD8_ENST00000455658.2_Missense_Mutation_p.P417S|BRD8_ENST00000411594.2_Missense_Mutation_p.P461S|BRD8_ENST00000402931.1_Missense_Mutation_p.P458S	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	458					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTCCCAGGGGCCAGGCAGG	0.537000													24	46					0	0	0.00229938	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000													25	81					0	0	0.000878237	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631110	122631110	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:122631110A>G	ENST00000195173.4	-	19	3105	c.2802T>C	c.(2800-2802)cgT>cgC	p.R934R	SEMA5B_ENST00000451055.2_Silent_p.R989R|SEMA5B_ENST00000357599.3_Silent_p.R935R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	935	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGTGCAGGAACGGGTGCGTT	0.637000													4	8					0	0	0.000602214	0	0
C1orf94	84970	broad.mit.edu	37	1	34666597	34666597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:34666597C>T	ENST00000488417.1	+	3	1354	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	222							protein binding	p.R222*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCGAGACTTCGAAACAAAGT	0.577000													5	7					0	0	0.000602214	0	0
FBN3	84467	broad.mit.edu	37	19	8136957	8136957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8136957C>T	ENST00000600128.1	-	63	8477	c.8063G>A	c.(8062-8064)cGa>cAa	p.R2688Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R2688Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2688Q			Q75N90	FBN3_HUMAN	fibrillin 3	2688						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCACTGCGTCGTGGCCGGTC	0.637000													23	48					0	0	0.000720815	0	0
C12orf36	283422	broad.mit.edu	37	12	13526287	13526287	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:13526287G>A	ENST00000318426.2	-	3	485	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	C12orf36_ENST00000527705.2_Silent_p.L90L					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		GGATTTCCCAGGGGAGGAGCT	0.463000													54	112					0	0	0.000781405	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583473	80583473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:80583473C>T	ENST00000305904.6	+	3	292	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	DYNLRB2_ENST00000568035.1_Intron|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.R87C|DYNLRB2_ENST00000570222.1_3'UTR	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	58					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AAGCACAGTTCGTGATATTGA	0.403000													9	26					0	0	0.000442599	0	0
RYR1	6261	broad.mit.edu	37	19	39017657	39017657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:39017657G>A	ENST00000355481.4	+	71	10767	c.10636G>A	c.(10636-10638)Gaa>Aaa	p.E3546K	RYR1_ENST00000360985.3_Missense_Mutation_p.E3551K|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.E3551K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3551					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGTCCGGGAATTTCTGCA	0.512000													10	32					0	0	0.000422831	0	0
NLRP3	114548	broad.mit.edu	37	1	247588833	247588833	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:247588833G>A	ENST00000366497.2	+	4	2868	c.2088G>A	c.(2086-2088)aaG>aaA	p.K696K	NLRP3_ENST00000336119.3_Silent_p.K696K|NLRP3_ENST00000391828.3_Silent_p.K696K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.K696K|NLRP3_ENST00000366496.2_Silent_p.K696K|NLRP3_ENST00000348069.2_Silent_p.K696K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	696	Poly-Glu.				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)			AGGAGGAAAAGGAAGGCCGAC	0.527000													6	38					0	0	0.000157383	0	0
FOXD4	2298	broad.mit.edu	37	9	117520	117520	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:117520G>A	ENST00000382500.2	-	1	897	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	200					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGTGGCGCTGGAAACGCTTCC	0.692000													54	62					0	0	0.000781405	0	0
OR4X1	390113	broad.mit.edu	37	11	48286288	48286288	+	Silent	SNP	G	G	A	rs140713653		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48286288G>A	ENST00000320048.1	+	1	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V292V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGCTGAAGTGAAAAATGCCA	0.413000													9	40					0	0	0.000274275	0	0
FAT4	79633	broad.mit.edu	37	4	126241934	126241934	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126241934C>T	ENST00000394329.3	+	1	4381	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1456	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCAACTATCCTACACAATCA	0.388000													25	58					0	0	0.000878237	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26900643	26900643	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:26900643C>G	ENST00000374168.2	+	22	2313	c.2159C>G	c.(2158-2160)tCc>tGc	p.S720C	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S704C|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S628C|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S628C|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S709C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S729C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	720					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATCGAGTCATCCATCCTGGCC	0.627000													31	36					0	0	0.0024448	0	0
ZNF80	7634	broad.mit.edu	37	3	113955649	113955649	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:113955649G>A	ENST00000482457.2	-	1	776	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	91						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTCGAACGAAGTCGACCTTTT	0.532000													12	15					0	0	0.00136819	0	0
A2ML1	144568	broad.mit.edu	37	12	9010680	9010680	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9010680C>T	ENST00000299698.7	+	26	3426	c.3246C>T	c.(3244-3246)ctC>ctT	p.L1082L	A2ML1_ENST00000539547.1_Silent_p.L591L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	926						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGGAAATCTCCTTCACACAG	0.527000													13	17					0	0	0.000308642	0	0
DRGX	644168	broad.mit.edu	37	10	50594600	50594600	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:50594600G>A	ENST00000374139.2	-	5	460	c.450C>T	c.(448-450)ttC>ttT	p.F150F	DRGX_ENST00000434016.1_Silent_p.F155F			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	155					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						AGCAGGAGGGGAAGAAAGGCC	0.622000													6	3					0	0	0.00198382	0	0
OR52E8	390079	broad.mit.edu	37	11	5878020	5878020	+	Nonsense_Mutation	SNP	G	G	A	rs142656457		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5878020G>A	ENST00000537935.1	-	1	944	c.913C>T	c.(913-915)Cga>Tga	p.R305*	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305*(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTCTCTCGAATCTGCTTT	0.418000													46	98					0	0	0.000781405	0	0
COL6A6	131873	broad.mit.edu	37	3	130287097	130287097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:130287097G>A	ENST00000358511.6	+	5	2081	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D684N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	684	Nonhelical region.|VWFA 4.				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						GTCCCAAAGCGACATTTCAAA	0.478000													54	125					0	0	0.000781405	0	0
BIN3	55909	broad.mit.edu	37	8	22481737	22481737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:22481737G>A	ENST00000276416.6	-	7	546	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	BIN3_ENST00000519513.1_Nonsense_Mutation_p.Q106*|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Nonsense_Mutation_p.Q112*	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	160	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCTGGTACCTGGTGGAGCTTG	0.627000													10	24					0	0	0.00136819	0	0
ASTN1	460	broad.mit.edu	37	1	176913084	176913084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:176913084C>T	ENST00000367654.2	-	14	2357	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	ASTN1_ENST00000424564.2_Missense_Mutation_p.E774K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E774K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E774K|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	782					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						CATTGATTCTCCAGGGGCACA	0.522000													13	37					0	0	0.00185496	0	0
SPON1	10418	broad.mit.edu	37	11	14101558	14101558	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:14101558G>A	ENST00000310358.7	+	0	1202							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACACCCAAAGGATTACCCTCG	0.483000													15	40					0	0	0.00074312	0	0
LILRA1	11024	broad.mit.edu	37	19	55106319	55106319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55106319C>T	ENST00000453777.1	+	4	430	c.260C>T	c.(259-261)tCc>tTc	p.S87F	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S87F|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	87	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCATCCCATCCATCACCTGG	0.562000													30	60					0	0	0.00178596	0	0
DMBX1	127343	broad.mit.edu	37	1	46976761	46976761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:46976761C>T	ENST00000371956.4	+	3	518	c.503C>T	c.(502-504)cCa>cTa	p.P168L	DMBX1_ENST00000360032.3_Missense_Mutation_p.P163L	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	168					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCCCCACGTCTGCCT	0.647000													45	59					0	0	0.000781405	0	0
MYCT1	80177	broad.mit.edu	37	6	153042884	153042884	+	Silent	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:153042884T>A	ENST00000367245.5	+	2	212	c.204T>A	c.(202-204)ctT>ctA	p.L68L	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	68						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAGAGGACCTTATCATGTCCT	0.373000													21	37					0	0	0.00229938	0	0
SPAM1	6677	broad.mit.edu	37	7	123594010	123594010	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:123594010A>T	ENST00000340011.5	+	3	743	c.386A>T	c.(385-387)aAa>aTa	p.K129I	SPAM1_ENST00000223028.7_Missense_Mutation_p.K129I|SPAM1_ENST00000460182.1_Missense_Mutation_p.K129I|SPAM1_ENST00000439500.1_Missense_Mutation_p.K129I|SPAM1_ENST00000402183.2_Missense_Mutation_p.K129I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	129					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)	AAAGCTAAGAAAGACATTACA	0.408000													24	51					0	0	0.000586117	0	0
GPR176	11245	broad.mit.edu	37	15	40094123	40094123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:40094123G>A	ENST00000299092.3	-	4	953	c.755C>T	c.(754-756)tCt>tTt	p.S252F	GPR176_ENST00000543580.1_Missense_Mutation_p.S208F|GPR176_ENST00000561100.1_Missense_Mutation_p.S253F|GPR176_ENST00000560729.1_5'UTR	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	253					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		ATAGGGAATAGAGATGGTGTT	0.587000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	27					0	0	0.00278032	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673171	141673171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141673171G>A	ENST00000547270.1	-	1	402	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	107					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCAAGCCAGAGGTTGGCTTGG	0.517000													30	71					0	0	0.00058488	0	0
OR13C8	138802	broad.mit.edu	37	9	107331799	107331799	+	Silent	SNP	G	G	A	rs140558238		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107331799G>A	ENST00000335040.1	+	1	351	c.351G>A	c.(349-351)acG>acA	p.T117T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTAGGCACGATGGCACTGG	0.522000													23	54					0	0	0.00229938	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644352	45644352	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:45644352C>T	ENST00000427229.2	+	0	523																											CCTTGAGTTTCGAGTGGGTGA	0.353000													9	12					0	0	0.000673444	0	0
ARMC4	55130	broad.mit.edu	37	10	28149605	28149605	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:28149605G>A	ENST00000305242.5	-	19	3062	c.2970C>T	c.(2968-2970)ctC>ctT	p.L990L	ARMC4_ENST00000545014.1_Silent_p.L515L|ARMC4_ENST00000537576.1_Silent_p.L682L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	990							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CGTCTTCTGAGAGTTGGTACA	0.483000													27	61					0	0	0.00106085	0	0
TCF21	6943	broad.mit.edu	37	6	134210846	134210846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:134210846C>T	ENST00000367882.4	+	1	571	c.311C>T	c.(310-312)aCc>aTc	p.T104I	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T104I	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	104	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGACTCAAGACCACCCTGCCC	0.667000													20	61					0	0	0.00121646	0	0
SYNE2	23224	broad.mit.edu	37	14	64588807	64588807	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:64588807G>A	ENST00000357395.3	+	70	13535	c.2391G>A	c.(2389-2391)caG>caA	p.Q797Q	SYNE2_ENST00000344113.4_Silent_p.Q4412Q|SYNE2_ENST00000553455.1_Silent_p.Q131Q|SYNE2_ENST00000394768.2_Silent_p.Q797Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Silent_p.Q4412Q|SYNE2_ENST00000554584.1_Silent_p.Q4427Q|SYNE2_ENST00000555002.1_Silent_p.Q1046Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4412					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGGCCCCAGTATTGCCAAC	0.333000													32	23					0	0	0.00178596	0	0
PDZD2	23037	broad.mit.edu	37	5	32089405	32089405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:32089405C>T	ENST00000438447.1	+	20	6239	c.5851C>T	c.(5851-5853)Ccc>Tcc	p.P1951S	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1951S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1951					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CACAGCTGCCCCCAGGTCCCC	0.577000													16	49					0	0	0.000566183	0	0
COL11A2	1302	broad.mit.edu	37	6	33154564	33154564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33154564C>T	ENST00000341947.2	-	5	865	c.638G>A	c.(637-639)gGg>gAg	p.G213E	COL11A2_ENST00000374713.1_Missense_Mutation_p.G213E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G213E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G213E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G213E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G213E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G213E|COL11A2_ENST00000395194.1_Missense_Mutation_p.G213E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G213E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	213	TSP N-terminal.				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						TGCCTGGACCCCTGGGACAAT	0.562000													35	130					0	0	0.00222228	0	0
PROSER1	80209	broad.mit.edu	37	13	39611365	39611365	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:39611365G>A	ENST00000352251.3	-	1	848	c.15C>T	c.(13-15)tcC>tcT	p.S5S	PROSER1_ENST00000350125.3_Silent_p.S5S	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	5																	CCATTTCAAAGGACTTTTTAT	0.368000													17	34					0	0	0.00121646	0	0
CDH13	1012	broad.mit.edu	37	16	83636148	83636148	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:83636148G>A	ENST00000566620.1	+	8	1340	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	CDH13_ENST00000428848.3_Silent_p.T311T|CDH13_ENST00000268613.10_Silent_p.T397T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	350	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACAGCCACGATCATGATCG	0.463000													12	143					0	0	0.00136819	0	0
TMEM202	338949	broad.mit.edu	37	15	72700033	72700033	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:72700033G>A	ENST00000341689.3	+	5	675	c.619_splice	c.e5-1	p.G207_splice	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	207						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTCCCGTAGGGATCATCTCTC	0.443000													44	8					0	0	0.000781405	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553766	140553766	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140553766C>T	ENST00000231137.3	+	1	1524	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		450	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCTCCCGCCTTCACCCAAA	0.592000													53	96					0	0	0.000781405	0	0
NELL2	4753	broad.mit.edu	37	12	44902763	44902763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:44902763C>T	ENST00000429094.2	-	20	2909	c.2405G>A	c.(2404-2406)gGc>gAc	p.G802D	NELL2_ENST00000395487.2_Missense_Mutation_p.G801D|NELL2_ENST00000551601.1_Missense_Mutation_p.G754D|NELL2_ENST00000437801.2_Missense_Mutation_p.G852D|NELL2_ENST00000549027.1_Missense_Mutation_p.G801D|NELL2_ENST00000452445.2_Missense_Mutation_p.G802D|NELL2_ENST00000333837.4_Missense_Mutation_p.G825D	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	802	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAGATGTGGCCATTCTAGAT	0.323000													17	57					0	0	0.00121646	0	0
OR51L1	119682	broad.mit.edu	37	11	5021082	5021082	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5021082C>T	ENST00000321543.1	+	1	870	c.870C>T	c.(868-870)aaC>aaT	p.N290N		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCCTTAACCCTATTGTCT	0.453000													18	38					0	0	0.00152264	0	0
AMPD2	271	broad.mit.edu	37	1	110163683	110163683	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:110163683C>T	ENST00000256578.3	+	1	408	c.48C>T	c.(46-48)ttC>ttT	p.F16F	AMPD2_ENST00000528667.1_Silent_p.F16F|AMPD2_ENST00000342115.4_Intron|AMPD2_ENST00000526301.1_Intron	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	16					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCGCTGCTTCCTGCATCAGT	0.682000													4	12					0	0	0.00116845	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663592	44663592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:44663592G>A	ENST00000454036.1	+	2	203	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	SLC12A5_ENST00000372315.1_Missense_Mutation_p.G20S|SLC12A5_ENST00000539566.1_Missense_Mutation_p.G20S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G20S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	43					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCAGGTGATGGCAACCCCAA	0.527000													15	78					0	0	0.000958276	0	0
DMXL1	1657	broad.mit.edu	37	5	118484445	118484445	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:118484445T>A	ENST00000311085.8	+	18	3003	c.2923T>A	c.(2923-2925)Tca>Aca	p.S975T	DMXL1_ENST00000539542.1_Missense_Mutation_p.S975T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	975										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACATCTGAGTTCATCTTCTAT	0.313000													28	95					0	0	0.001512	0	0
IGFBP3	3486	broad.mit.edu	37	7	45954538	45954538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:45954538G>A	ENST00000275521.6	-	4	890	c.757C>T	c.(757-759)Cct>Tct	p.P253S	IGFBP3_ENST00000381086.5_Missense_Mutation_p.P156S|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P259S	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	253	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CCTTTGGAAGGGCGACACTGT	0.587000													20	29					0	0	0.000586117	0	0
CNBD1	168975	broad.mit.edu	37	8	87951846	87951846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:87951846G>A	ENST00000518476.1	+	4	346	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	99										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGGCAAAGAGGAAAGTCAACA	0.348000													38	94					0	0	0.000680045	0	0
OR10J1	26476	broad.mit.edu	37	1	159410279	159410279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159410279G>A	ENST00000423932.3	+	1	768	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	244					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTTGAGGGCCGGAAGAAGGCT	0.478000													24	47					0	0	0.000586117	0	0
HTR4	3360	broad.mit.edu	37	5	147928410	147928410	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:147928410G>A	ENST00000360693.3	-	4	312	c.174C>T	c.(172-174)ttC>ttT	p.F58F	HTR4_ENST00000377888.3_Silent_p.F58F|HTR4_ENST00000517929.1_Silent_p.F58F|HTR4_ENST00000314512.6_Silent_p.F58F|HTR4_ENST00000521735.1_Silent_p.F58F|HTR4_ENST00000362016.2_Silent_p.F58F|HTR4_ENST00000354217.2_Silent_p.F58F|HTR4_ENST00000520514.1_Silent_p.F58F|HTR4_ENST00000521530.1_Silent_p.F58F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	58					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GAGATACAATGAAATAATTTG	0.453000													6	18					0	0	0.00198382	0	0
OR10J3	441911	broad.mit.edu	37	1	159283508	159283508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159283508C>T	ENST00000332217.5	-	1	941	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AACCTCTCTTCATTAAGGAGA	0.413000													26	70					0	0	0.00127121	0	0
AVP	551	broad.mit.edu	37	20	3065240	3065240	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:3065240C>T	ENST00000380293.3	-	1	130	c.81G>A	c.(79-81)agG>agA	p.R27R		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	27					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		TCTTGCCGCCCCTCGGGCAGT	0.647000													29	83					0	0	0.00058488	0	0
LMBR1L	55716	broad.mit.edu	37	12	49497573	49497573	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:49497573C>T	ENST00000267102.8	-	6	801	c.459G>A	c.(457-459)gaG>gaA	p.E153E	LMBR1L_ENST00000395141.4_Silent_p.E148E|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Silent_p.E153E	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	153					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACCACTGTCTCATAGACCC	0.552000													37	106					0	0	0.00128727	0	0
ANGPT1	284	broad.mit.edu	37	8	108264096	108264096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:108264096G>A	ENST00000520734.1	-	8	1169	c.884C>T	c.(883-885)cCt>cTt	p.P295L	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.P294L			Q15389	ANGP1_HUMAN	angiopoietin 1	495	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAAATCTAAAGGTCGAATCAT	0.418000													26	59					0	0	0.000878237	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407269	185407269	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:185407269C>A	ENST00000382199.2	-	6	646	c.551G>T	c.(550-552)gGg>gTg	p.G184V	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.G184V|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.G190V|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.G127V	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	184					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AGAAGTGCCCCCAGGGGCGTG	0.607000													8	236					2.17888e-05	8.45304e-05	0.000442599	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077940	19077940	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:19077940T>C	ENST00000329773.2	-	2	97	c.10A>G	c.(10-12)Acc>Gcc	p.T4A		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	4					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCCGGGGTGGTTGGATCCATG	0.502000													51	152					0	0	0.000781405	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449092	104449092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104449092C>T	ENST00000361820.3	-	2	1690	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	364					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)	GTCCTCAGTTCCTCCACATTC	0.512000													17	23					0	0	0.000422831	0	0
MCM10	55388	broad.mit.edu	37	10	13214665	13214665	+	Silent	SNP	T	T	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:13214665T>G	ENST00000378694.1	+	4	567	c.492T>G	c.(490-492)gtT>gtG	p.V164V	MCM10_ENST00000484800.2_Silent_p.V165V|MCM10_ENST00000378714.3_Silent_p.V164V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	165					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGAGGAGAGTTCAGAGAATTC	0.473000													12	54					0	0	0.00185496	0	0
MYO7B	4648	broad.mit.edu	37	2	128370139	128370139	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:128370139A>G	ENST00000389524.4	+	25	3334	c.3281A>G	c.(3280-3282)cAc>cGc	p.H1094R	MYO7B_ENST00000409816.2_Missense_Mutation_p.H1094R|MYO7B_ENST00000428314.1_Missense_Mutation_p.H1094R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1094	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGAAGGTGCACTTCATCGTG	0.607000													4	6					0	0	0.00024832	0	0
KIAA0368	23392	broad.mit.edu	37	9	114136276	114136276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:114136276G>A	ENST00000259335.4	-	40	4686	c.4687C>T	c.(4687-4689)Cct>Tct	p.P1563S	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.P1385S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGGTCCTGAGGACACTGAGTA	0.428000													63	76					0	0	0.000781405	0	0
OR2T2	401992	broad.mit.edu	37	1	248616432	248616432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248616432G>A	ENST00000342927.3	+	1	356	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			GATTGGAGGGGAATTCTTCCT	0.537000													21	149					0	0	0.00047179	0	0
ENPEP	2028	broad.mit.edu	37	4	111470877	111470877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:111470877C>T	ENST00000265162.5	+	17	2678	c.2336C>T	c.(2335-2337)cCc>cTc	p.P779L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	779					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCTAGCCTTCCCGTAAATCTC	0.398000													22	49					0	0	0.000586117	0	0
RBM11	54033	broad.mit.edu	37	21	15592007	15592007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:15592007C>T	ENST00000400577.3	+	2	229	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	74	RRM.						nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GAATGGAATTCGTTTATATGG	0.388000													9	30					0	0	0.000673444	0	0
RUFY2	55680	broad.mit.edu	37	10	70161453	70161453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:70161453G>A	ENST00000388768.2	-	3	651	c.325C>T	c.(325-327)Cct>Tct	p.P109S	RUFY2_ENST00000602465.1_Missense_Mutation_p.P74S|RUFY2_ENST00000342616.4_Missense_Mutation_p.P74S|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.P74S|RUFY2_ENST00000454950.2_Missense_Mutation_p.P16S	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	123	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AGTTCCAAAGGGCCCCAGATG	0.403000													18	16					0	0	0.00074312	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965341	26965341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:26965341G>A	ENST00000528896.2	-	13	1515	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q338*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q338*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	481						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GGCGCCCGCTGAATGTGGGAG	0.572000													26	26					0	0	0.000586117	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665942	665942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:665942G>A	ENST00000266383.5	+	15	2303	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	764						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TAGGAGACAGGTCCTGAATAC	0.647000													11	20					0	0	0.000978159	0	0
ALG14	199857	broad.mit.edu	37	1	95538398	95538398	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:95538398G>A	ENST00000370205.4	-	1	103	c.57C>T	c.(55-57)atC>atT	p.I19I	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	19					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		ATATTCGCAGGATTAGGAAAA	0.587000													56	55					0	0	0.000781405	0	0
FHOD1	29109	broad.mit.edu	37	16	67265199	67265199	+	Silent	SNP	C	C	T	rs143498229		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:67265199C>T	ENST00000258201.4	-	17	2806	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	FHOD1_ENST00000567687.1_Silent_p.T432T	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	853	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTCGACGCACCGTGTCCTTCA	0.587000													15	25					0	0	0.000566183	0	0
NLRP7	199713	broad.mit.edu	37	19	55450450	55450450	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55450450C>T	ENST00000446217.1	-	6	2223	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	NLRP7_ENST00000448121.2_Silent_p.Q579Q|NLRP7_ENST00000592784.1_Silent_p.Q579Q|NLRP7_ENST00000590030.1_Silent_p.Q579Q|NLRP7_ENST00000588756.1_Silent_p.Q579Q|NLRP7_ENST00000340844.2_Silent_p.Q579Q|NLRP7_ENST00000328092.5_Silent_p.Q579Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	579							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTCCTCCTCCTGAGACTCAT	0.493000													17	42					0	0	0.000958276	0	0
CEP192	55125	broad.mit.edu	37	18	13068116	13068116	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:13068116C>T	ENST00000506447.1	+	23	4718	c.4638C>T	c.(4636-4638)ttC>ttT	p.F1546F	CEP192_ENST00000430049.2_Silent_p.F1071F|CEP192_ENST00000325971.8_Silent_p.F950F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1141										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCGCTGTTTCACGTTTTCCA	0.463000													28	91					0	0	0.00127121	0	0
LINC01566	283914	broad.mit.edu	37	16	34624169	34624169	+	RNA	SNP	G	G	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:34624169G>C	ENST00000569242.1	+	0	2015					NR_027079.1																						CTGCCAGGGTGAATGTGAAAG	0.453000													65	94					0	0	0.000781405	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656152	167656152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:167656152C>T	ENST00000357154.3	-	12	1368	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	SPOCK3_ENST00000511531.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D291N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D315N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D368N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D360N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D408N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D279N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D313N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D313N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	411	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcatcttcatcattcataata	0.358000													12	42					0	0	0.00136819	0	0
TAF1L	138474	broad.mit.edu	37	9	32633981	32633981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:32633981G>A	ENST00000242310.4	-	1	1686	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	533					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCATCAGGAATTTCCAAA	0.483000													36	44					0	0	0.000814825	0	0
PIGV	55650	broad.mit.edu	37	1	27121059	27121059	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27121059C>T	ENST00000374145.1	+	3	1216	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Silent_p.F178F	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	178					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCCTGACATTCAGTGCCATGG	0.562000													21	61					0	0	0.00188189	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17443452	17443452	+	RNA	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:17443452T>C	ENST00000458468.1	+	0	46					NR_027790.1																						GAGAACGCTGTCTGGGCTTGG	0.468000													49	120					0	0	0.000781405	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469100	25469100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:25469100G>A	ENST00000264709.3	-	11	1695	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P453L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P264L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P230L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	453					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTTGGCTGGTGGAGGTGG	0.562000			"""Mis, F, N, S"""		AML								32	82					0	0	0.000692331	0	0
PCED1B	91523	broad.mit.edu	37	12	47629900	47629900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:47629900C>T	ENST00000546455.1	+	4	1785	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*	PCED1B_ENST00000432328.1_Nonsense_Mutation_p.Q352*					PC-esterase domain containing 1B																		CCAGTCGGATCAATTCTATTG	0.527000													37	77					0	0	0.00111076	0	0
PRF1	5551	broad.mit.edu	37	10	72358237	72358237	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:72358237G>A	ENST00000441259.1	-	3	1400	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	PRF1_ENST00000373209.2_Silent_p.L414L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	414					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGCTGGGCCAGGCCCCTCTGC	0.652000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				8	2					0	0	0.000274275	0	0
ZNF676	163223	broad.mit.edu	37	19	22363165	22363165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:22363165C>T	ENST00000397121.2	-	3	1671	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCACATTCTTCACATTTGTAG	0.438000													30	83					0	0	0.000814825	0	0
DNAH9	1770	broad.mit.edu	37	17	11631209	11631209	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:11631209C>T	ENST00000262442.3	+	28	5852	c.5784C>T	c.(5782-5784)tcC>tcT	p.S1928S	DNAH9_ENST00000454412.2_Silent_p.S1928S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1928	AAA 1 (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)		ATCGAATCTCCGTGGAGGTCT	0.483000													12	11					0	0	0.00185496	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581190	101581190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:101581190C>T	ENST00000536262.2	-	7	1495	c.937G>A	c.(937-939)Gcc>Acc	p.A313T		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	313					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTTTCTTGGCTGTCCAAGGA	0.433000													21	32					0	0	0.00278032	0	0
ASIC1	41	broad.mit.edu	37	12	50453691	50453691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:50453691C>T	ENST00000228468.4	+	3	897	c.512C>T	c.(511-513)tCc>tTc	p.S171F	ASIC1_ENST00000447966.2_Missense_Mutation_p.S171F	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	171					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ATGCTGCTCTCCTGCCACTTC	0.597000													15	26					0	0	0.00074312	0	0
KPRP	448834	broad.mit.edu	37	1	152733215	152733215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152733215C>T	ENST00000368773.1	+	2	1209	c.1151C>T	c.(1150-1152)cCa>cTa	p.P384L	KPRP_ENST00000606109.1_Missense_Mutation_p.P384L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	384	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTCTGTCCACCACGGCGT	0.637000													13	30					0	0	0.00244969	0	0
NEIL2	252969	broad.mit.edu	37	8	11637335	11637335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11637335C>T	ENST00000284503.6	+	3	966	c.367C>T	c.(367-369)Cct>Tct	p.P123S	NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.P62S|NEIL2_ENST00000436750.3_Missense_Mutation_p.P123S|NEIL2_ENST00000455213.2_Missense_Mutation_p.P123S	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	123					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GAGAGACGCCCCTGCAGGAGA	0.587000								Base excision repair (BER), DNA glycosylases					15	47					0	0	0.000422831	0	0
FOLH1	2346	broad.mit.edu	37	11	49190808	49190808	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:49190808C>T	ENST00000340334.7	-	13	1634	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.E437E|FOLH1_ENST00000356696.3_Silent_p.E437E|FOLH1_ENST00000343844.4_Silent_p.E129E|FOLH1_ENST00000533034.1_Silent_p.E422E	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	437	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTTGAATTCTCCTATAATA	0.343000													15	36					0	0	0.000958276	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68179591	68179591	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:68179591C>T	ENST00000262215.3	-	11	2048	c.1659G>A	c.(1657-1659)acG>acA	p.T553T	ARFGEF1_ENST00000520381.1_Silent_p.T7T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	553					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)			CACAAATCCTCGTCAGTGTCT	0.303000													31	82					0	0	0.00111076	0	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	C	T	rs148031312		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5079889C>T	ENST00000321522.2	-	1	968	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000													21	49					0	0	0.00278032	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182185	57182185	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:57182185G>A	ENST00000395123.2	-	11	1267	c.963C>T	c.(961-963)gcC>gcT	p.A321A	SLC43A3_ENST00000529554.1_Silent_p.A321A|SLC43A3_ENST00000395124.1_Silent_p.A321A|SLC43A3_ENST00000533524.1_Silent_p.A334A|SLC43A3_ENST00000352187.1_Silent_p.A321A	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	321					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TGAAGGCAAAGGCATTTGTGT	0.522000													62	80					0	0	0.000781405	0	0
SALL2	6297	broad.mit.edu	37	14	21990273	21990273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:21990273G>A	ENST00000317492.5	-	3	509	c.497C>T	c.(496-498)cCt>cTt	p.P166L	SALL2_ENST00000450879.2_Silent_p.L864L|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000327430.3_3'UTR|SALL2_ENST00000538754.1_Missense_Mutation_p.P164L			Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	0	Poly-Pro.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACAGTTCCTAGGCCAAACAGC	0.582000													7	6					0	0	0.000157383	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276351	153276351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153276351G>A	ENST00000290722.1	-	4	563	c.511C>T	c.(511-513)Cca>Tca	p.P171S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	171					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCATCACTGGATGTTGAGGG	0.532000													23	71					0	0	0.00047179	0	0
SELE	6401	broad.mit.edu	37	1	169697258	169697258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:169697258G>A	ENST00000333360.7	-	8	1359	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	SELE_ENST00000367781.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.S407F|SELE_ENST00000367776.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.S407F|SELE_ENST00000367775.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	407	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GAGCCTTTTGGATCCCTTCAA	0.463000													34	82					0	0	0.000953801	0	0
MSLN	10232	broad.mit.edu	37	16	813661	813661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:813661G>A	ENST00000566549.1	+	4	566	c.149G>A	c.(148-150)gGa>gAa	p.G50E	MSLN_ENST00000382862.3_Missense_Mutation_p.G50E|MSLN_ENST00000563941.1_Missense_Mutation_p.G50E|MSLN_ENST00000545450.2_Missense_Mutation_p.G50E			Q13421	MSLN_HUMAN	mesothelin	50					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCCTGGACGGAGTCCTGGCC	0.667000													4	12					0	0	0.00116845	0	0
FAM71C	196472	broad.mit.edu	37	12	100042121	100042121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:100042121G>A	ENST00000324341.1	+	1	591	c.169G>A	c.(169-171)Gga>Aga	p.G57R	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	57										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CAGCAAAAGAGGAGAAGTGAT	0.527000													22	54					0	0	0.000720815	0	0
BCAS3	54828	broad.mit.edu	37	17	59118169	59118169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:59118169G>A	ENST00000589222.1	+	19	2013	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	BCAS3_ENST00000408905.3_Missense_Mutation_p.E649K|BCAS3_ENST00000585744.1_Missense_Mutation_p.E435K|BCAS3_ENST00000407086.3_Missense_Mutation_p.E649K|BCAS3_ENST00000588874.1_Missense_Mutation_p.E420K|BCAS3_ENST00000588462.1_Missense_Mutation_p.E664K|BCAS3_ENST00000390652.5_Missense_Mutation_p.E664K|RP11-264B14.1_ENST00000588604.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	664						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCAATGGAATGAATTGCAGCC	0.413000													80	110					0	0	0.000781405	0	0
CSF3R	1441	broad.mit.edu	37	1	36941240	36941240	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:36941240G>A	ENST00000373103.1	-	4	646	c.99C>T	c.(97-99)gcC>gcT	p.A33A	CSF3R_ENST00000440588.2_Silent_p.A33A|CSF3R_ENST00000373106.1_Silent_p.A33A|CSF3R_ENST00000418048.2_Silent_p.A33A|CSF3R_ENST00000331941.5_Silent_p.A33A|CSF3R_ENST00000361632.4_Silent_p.A33A|CSF3R_ENST00000373104.1_Silent_p.A33A|CSF3R_ENST00000338937.5_Silent_p.A33A	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	33	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGACGATGGGGGCTGAGACAC	0.602000													14	17					0	0	0.000958276	0	0
BPIFC	254240	broad.mit.edu	37	22	32827390	32827390	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:32827390G>A	ENST00000397452.1	-	12	1271	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	BPIFC_ENST00000300399.3_Silent_p.T387T|BPIFC_ENST00000534972.1_Silent_p.T111T|BPIFC_ENST00000432451.2_Silent_p.T144T			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	387						extracellular region	lipopolysaccharide binding|phospholipid binding										GGCCAACACTGGTACTAGCAA	0.373000													8	22					0	0	0.000274275	0	0
CXCL3	2921	broad.mit.edu	37	4	74903826	74903826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:74903826C>T	ENST00000296026.4	-	3	369	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	98					immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			AGTATCTTTTCGATGATTTTC	0.468000													13	36					0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92085510	92085510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:92085510G>A	ENST00000298047.6	+	1	249	c.232G>A	c.(232-234)Gat>Aat	p.D78N	FAT3_ENST00000409404.2_Missense_Mutation_p.D78N|FAT3_ENST00000541502.1_Missense_Mutation_p.D78N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	78	Cadherin 1.				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)				TCTATCCTGGGATATCAAATA	0.413000										TCGA Ovarian(4;0.039)			173	215					0	0	0.000781405	0	0
TTLL2	83887	broad.mit.edu	37	6	167754124	167754124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:167754124C>T	ENST00000239587.5	+	3	824	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	246	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TATCTCCAATCCTTTACTTAT	0.383000													31	94					0	0	0.00127121	0	0
INTS9	55756	broad.mit.edu	37	8	28625707	28625707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:28625707C>T	ENST00000416984.2	-	16	2229	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	INTS9_ENST00000521777.1_Missense_Mutation_p.V621M|INTS9_ENST00000521022.1_Missense_Mutation_p.V645M|INTS9_ENST00000397363.4_Missense_Mutation_p.V539M	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	645					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGCAGTCGCACTCTGAGCATC	0.537000													65	130					0	0	0.000781405	0	0
RUFY3	22902	broad.mit.edu	37	4	71648891	71648891	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:71648891C>T	ENST00000226328.4	+	9	1541	c.978C>T	c.(976-978)tcC>tcT	p.S326S	RUFY3_ENST00000417478.2_Silent_p.S386S|RUFY3_ENST00000502653.1_Silent_p.S273S|RUFY3_ENST00000536664.1_Silent_p.S310S|RUFY3_ENST00000381006.3_Silent_p.S326S	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	326					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TACTGGAATCCAATCGGAAGG	0.358000													12	20					0	0	0.00244969	0	0
KCNQ1	3784	broad.mit.edu	37	11	2591881	2591881	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:2591881C>T	ENST00000155840.5	+	3	609	c.501C>T	c.(499-501)ttC>ttT	p.F167F	KCNQ1_ENST00000335475.5_Silent_p.F40F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	167			FG -> W (in LQT1).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGGTGTTCTTCGGGACGGAGT	0.642000													45	91					0	0	0.000781405	0	0
CORO2A	7464	broad.mit.edu	37	9	100888860	100888860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:100888860C>T	ENST00000343933.5	-	11	1674	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	CORO2A_ENST00000375077.4_Missense_Mutation_p.E473K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	473					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.E473K(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGGGGGCATTCGAAAACGTCA	0.567000													31	133					0	0	0.00111076	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713260	142713260	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:142713260C>T	ENST00000369381.2	-	0	1345																											TCTTTCATTTCCTTTATTTGC	0.363000													25	52					0	0	0.000878237	0	0
NRK	203447	broad.mit.edu	37	X	105189954	105189954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:105189954C>T	ENST00000428173.2	+	25	4456	c.4153C>T	c.(4153-4155)Cca>Tca	p.P1385S	NRK_ENST00000243300.9_Missense_Mutation_p.P1384S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1384	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCAGCTGATCCAGTGAACCG	0.448000										HNSCC(51;0.14)			11	6					0	0	0.000673444	0	0
IGDCC3	9543	broad.mit.edu	37	15	65628177	65628177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:65628177C>T	ENST00000327987.4	-	3	778	c.527G>A	c.(526-528)aGa>aAa	p.R176K		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	176	Ig-like C2-type 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AATTGGGACTCTGTTCTTCTC	0.587000													66	35					0	0	0.000781405	0	0
ZNF813	126017	broad.mit.edu	37	19	53994065	53994065	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:53994065G>A	ENST00000396403.4	+	4	707	c.579G>A	c.(577-579)ggG>ggA	p.G193G	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATAACTATGGGAATAATTTCC	0.363000													54	113					0	0	0.000781405	0	0
CR1L	1379	broad.mit.edu	37	1	207890857	207890857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:207890857G>A	ENST00000508064.2	+	11	1523	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	488	Sushi 8.					cytoplasm|extracellular region|membrane		p.G488E(1)|p.G488A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGACACACAGGAACTCCCCTT	0.428000													28	81					0	0	0.0024448	0	0
BRAT1	221927	broad.mit.edu	37	7	2583225	2583225	+	Splice_Site	SNP	G	G	A	rs145047426		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:2583225G>A	ENST00000340611.4	-	5	1058	c.803_splice	c.e5+1	p.R268_splice		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	268					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGCCCTGACCGAGCCACACAG	0.677000													12	41					0	0	0.000308642	0	0
FBXO15	201456	broad.mit.edu	37	18	71740773	71740773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:71740773C>T	ENST00000269500.5	-	10	1563	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	FBXO15_ENST00000419743.2_Missense_Mutation_p.E486K|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	410										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGGTATTCTTCGGTCTCTCTG	0.453000													49	136					0	0	0.000781405	0	0
OR4S1	256148	broad.mit.edu	37	11	48327915	48327915	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:48327915C>T	ENST00000319988.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TCATCACCATCAATGCTAGAA	0.448000													38	70					0	0	0.00111076	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123301373	123301373	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:123301373C>T	ENST00000349780.4	-	6	632	c.453G>A	c.(451-453)aaG>aaA	p.K151K	CDK5RAP2_ENST00000360822.3_Silent_p.K151K|CDK5RAP2_ENST00000360190.4_Silent_p.K151K|CDK5RAP2_ENST00000359309.3_Silent_p.K151K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	151					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTGCACCTTCTTTCGAGCAT	0.458000													52	167					0	0	0.000781405	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675876	167675876	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:167675876G>A	ENST00000357154.3	-	9	860	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SPOCK3_ENST00000511531.1_Silent_p.F241F|SPOCK3_ENST00000504953.1_Silent_p.F238F|SPOCK3_ENST00000506886.1_Silent_p.F241F|SPOCK3_ENST00000511269.1_Silent_p.F238F|SPOCK3_ENST00000541354.1_Silent_p.F121F|SPOCK3_ENST00000502330.1_Silent_p.F241F|SPOCK3_ENST00000534949.1_Silent_p.F145F|SPOCK3_ENST00000510741.1_Silent_p.F198F|SPOCK3_ENST00000421836.2_Silent_p.F190F|SPOCK3_ENST00000357545.4_Silent_p.F238F|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000535728.1_Silent_p.F109F|SPOCK3_ENST00000512648.1_Silent_p.F238F|SPOCK3_ENST00000512681.1_Silent_p.F143F|SPOCK3_ENST00000541637.1_Silent_p.F143F	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	241					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGCTGGTATCGAATCCTAAAG	0.383000													16	44					0	0	0.000958276	0	0
TLR10	81793	broad.mit.edu	37	4	38774794	38774794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:38774794C>T	ENST00000308973.4	-	4	3023	c.2418G>A	c.(2416-2418)atG>atA	p.M806I	TLR10_ENST00000508334.1_Missense_Mutation_p.M806I|TLR10_ENST00000506111.1_Missense_Mutation_p.M806I|TLR10_ENST00000361424.2_Missense_Mutation_p.M806I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	806					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AATCTGTTCTCATCAGAGAGA	0.393000													21	34					0	0	0.00047179	0	0
MRPS7	51081	broad.mit.edu	37	17	73258480	73258480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:73258480C>T	ENST00000579002.1	+	1	488	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	0					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GCGCCGCTCCCCCTCGTCGGC	0.592000													26	25					0	0	0.000586117	0	0
ZNF572	137209	broad.mit.edu	37	8	125989878	125989878	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:125989878C>T	ENST00000319286.5	+	3	1522	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTAACCTTATCAGGCACCGGA	0.458000										HNSCC(60;0.17)			44	119					0	0	0.000781405	0	0
ATOH8	84913	broad.mit.edu	37	2	85991120	85991120	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:85991120T>A	ENST00000306279.3	+	2	1071	c.775T>A	c.(775-777)Tgc>Agc	p.C259S	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	259	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCAGGTGCCGTGCTACTCATA	0.617000													4	13					0	0	0.00116845	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768640	31768640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:31768640C>T	ENST00000355459.2	+	1	249	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	79	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCCAGACCTCCTGCTACCGT	0.607000													19	38					0	0	0.00188189	0	0
ACSM1	116285	broad.mit.edu	37	16	20682950	20682950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:20682950C>T	ENST00000307493.4	-	4	722	c.655G>A	c.(655-657)Gac>Aac	p.D219N	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.D219N	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	219					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ACCATTGGGTCCAAGGTCTTT	0.483000													23	53					0	0	0.00047179	0	0
MGAM	8972	broad.mit.edu	37	7	141732706	141732706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:141732706C>T	ENST00000475668.2	+	14	1720	c.1666C>T	c.(1666-1668)Ccc>Tcc	p.P556S	MGAM_ENST00000549489.2_Missense_Mutation_p.P556S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	556	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCATTCACTCCCAGTAAGTC	0.378000													8	14					0	0	0.000274275	0	0
CFAP54	144535	broad.mit.edu	37	12	97078503	97078503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:97078503G>A	ENST00000524981.3	+	8	1147	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K				Q6ZTY8	CL063_HUMAN		357										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CATCTTCGCAGAAAAGAAAAG	0.323000													29	84					0	0	0.001512	0	0
FAM26E	254228	broad.mit.edu	37	6	116836900	116836900	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:116836900G>A	ENST00000368599.3	+	2	729	c.678G>A	c.(676-678)ttG>ttA	p.L226L	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	226						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGGAGCAGTTGGAAAATACAT	0.438000													33	56					0	0	0.000953801	0	0
MLF1	4291	broad.mit.edu	37	3	158310243	158310243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:158310243G>A	ENST00000355893.5	+	2	206	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	MLF1_ENST00000478894.2_5'UTR|MLF1_ENST00000484955.1_5'UTR|MLF1_ENST00000471745.1_5'UTR|MLF1_ENST00000469452.1_5'UTR|MLF1_ENST00000392822.3_Missense_Mutation_p.R39Q|MLF1_ENST00000359117.5_5'UTR|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000482628.1_5'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	23					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CTTGCACACCGAGAAAATATG	0.363000			T	NPM1	AML								14	38					0	0	0.000958276	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887684	30887684	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:30887684G>A	ENST00000392772.2	-	11	1072	c.795C>T	c.(793-795)ttC>ttT	p.F265F	SEC14L4_ENST00000255858.7_Silent_p.F319F|SEC14L4_ENST00000381982.3_Silent_p.F319F|SEC14L4_ENST00000540456.1_Silent_p.F304F			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	319	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TGGTCTTCAGGAAAACCCCAA	0.627000													15	65					0	0	0.000958276	0	0
NPY5R	4889	broad.mit.edu	37	4	164272537	164272537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:164272537C>T	ENST00000515560.1	+	4	2634	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I	NPY5R_ENST00000338566.3_Missense_Mutation_p.T371I|NPY5R_ENST00000506953.1_Missense_Mutation_p.T371I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	371					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TACAGACTGACCATACTGATA	0.328000													27	54					0	0	0.000878237	0	0
ATAD2B	54454	broad.mit.edu	37	2	23977110	23977110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:23977110G>A	ENST00000238789.5	-	27	4617	c.4274C>T	c.(4273-4275)tCt>tTt	p.S1425F	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1425							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAAGAAGAGAATATAATCT	0.308000													8	4					0	0	0.000442599	0	0
RNPEP	6051	broad.mit.edu	37	1	201972423	201972423	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:201972423C>T	ENST00000295640.4	+	9	1528	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	RNPEP_ENST00000367286.3_Silent_p.L456L|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	495					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCCCTGATCTCTCCCCTGGGG	0.567000													10	25					0	0	0.000673444	0	0
SV2A	9900	broad.mit.edu	37	1	149879344	149879344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:149879344G>A	ENST00000369146.3	-	10	2076	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	SV2A_ENST00000369145.1_Missense_Mutation_p.S529F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	529					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TTCAAACAGGGAATCCTCAAA	0.493000													21	39					0	0	0.00188189	0	0
SCRIB	23513	broad.mit.edu	37	8	144874935	144874935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144874935G>A	ENST00000356994.2	-	30	4126	c.4120C>T	c.(4120-4122)Cct>Tct	p.P1374S	SCRIB_ENST00000377533.3_Missense_Mutation_p.P1293S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P1374S|SCRIB_ENST00000546337.1_5'UTR	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1374					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCGCTTAGGGGGGCCCTCG	0.697000													7	10					0	0	0.00198382	0	0
NYAP2	57624	broad.mit.edu	37	2	226446965	226446965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:226446965G>A	ENST00000272907.6	+	4	1245	c.832G>A	c.(832-834)Gac>Aac	p.D278N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	278																	TATCTTTGACGACTTGGGCCA	0.537000													32	54					0	0	0.001512	0	0
MYO18B	84700	broad.mit.edu	37	22	26219577	26219577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26219577G>A	ENST00000335473.7	+	13	2877	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	MYO18B_ENST00000407587.2_Missense_Mutation_p.R876Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.R876Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	876	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCACCTTCGACAGATCATC	0.577000													64	161					0	0	0.000781405	0	0
OR51E1	143503	broad.mit.edu	37	11	4674639	4674639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4674639G>A	ENST00000396952.5	+	2	1533	c.883G>A	c.(883-885)Gga>Aga	p.G295R	OR51E1_ENST00000530215.1_Missense_Mutation_p.M71I	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATTGTCTATGGAGTGAAGAC	0.512000													30	63					0	0	0.00283554	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561514	32561514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:32561514G>A	ENST00000345122.3	+	2	1954	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G547R|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G547R|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G547R	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	547					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAAGCATATAGGATTTGTTTA	0.353000													18	19					0	0	0.00152264	0	0
CLUL1	27098	broad.mit.edu	37	18	619283	619283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:619283G>A	ENST00000581619.1	+	3	1099	c.252G>A	c.(250-252)atG>atA	p.M84I	CLUL1_ENST00000400606.2_Missense_Mutation_p.M59I|CLUL1_ENST00000540035.1_Missense_Mutation_p.M111I|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000338387.7_Missense_Mutation_p.M59I|CLUL1_ENST00000579494.1_Missense_Mutation_p.M59I			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	59					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TTAAGCAAATGAAAATCATGA	0.378000													13	27					0	0	0.00185496	0	0
ARAP2	116984	broad.mit.edu	37	4	36230379	36230379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:36230379G>A	ENST00000303965.4	-	2	1219	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	244					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGAATGGGGATGGTGGT	0.388000													28	65					0	0	0.00209593	0	0
TCF19	6941	broad.mit.edu	37	6	31129706	31129706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:31129706C>T	ENST00000376257.3	+	3	1475	c.721C>T	c.(721-723)Cct>Tct	p.P241S	TCF19_ENST00000376255.4_Missense_Mutation_p.P241S|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	241	Pro-rich.		P -> L (in dbSNP:rs2073724).		cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGTGAGCCTCCTGAGAACCC	0.577000													14	58					0	0	0.00074312	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356900	104356900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:104356900C>T	ENST00000374806.1	-	1	383	c.313G>A	c.(313-315)Gat>Aat	p.D105N	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	102	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCATCTTTATCCATGTCGTAA	0.532000													54	60					0	0	0.000781405	0	0
PRSS35	167681	broad.mit.edu	37	6	84234203	84234203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84234203C>T	ENST00000536636.1	+	3	1388	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	PRSS35_ENST00000369700.3_Missense_Mutation_p.S348L	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	348	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TCCACCGGTTCGGGGGTCTAT	0.517000													23	61					0	0	0.000586117	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373551	97373551	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:97373551G>A	ENST00000264963.4	-	7	826	c.804C>T	c.(802-804)tcC>tcT	p.S268S	LMAN2L_ENST00000377079.4_Silent_p.S279S|LMAN2L_ENST00000537039.1_Silent_p.S130S|LMAN2L_ENST00000534882.1_Silent_p.S123S|LMAN2L_ENST00000426463.2_Silent_p.S134S	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	268	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						ACAACTTCAAGGAAATGACAT	0.418000													24	66					0	0	0.001512	0	0
MRC2	9902	broad.mit.edu	37	17	60741970	60741970	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:60741970G>A	ENST00000303375.5	+	2	582	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	60	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCAGGGCGGGCAGGTCAGAG	0.622000													22	70					0	0	0.00229938	0	0
TEX15	56154	broad.mit.edu	37	8	30703036	30703036	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:30703036G>A	ENST00000256246.2	-	1	3572	c.3498C>T	c.(3496-3498)ccC>ccT	p.P1166P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1166										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)		TTCCAGAAAAGGGCTGATGTT	0.358000													16	40					0	0	0.000308642	0	0
MYH4	4622	broad.mit.edu	37	17	10353861	10353861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10353861C>T	ENST00000255381.2	-	30	4200	c.4090G>A	c.(4090-4092)Gga>Aga	p.G1364R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1364					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						TTGGACATTCCCCTCTGCAGC	0.612000													36	39					0	0	0.00170553	0	0
NDRG2	57447	broad.mit.edu	37	14	21485762	21485762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:21485762G>A	ENST00000556147.1	-	16	2049	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	NDRG2_ENST00000298687.5_Missense_Mutation_p.S370F|NDRG2_ENST00000553503.1_Missense_Mutation_p.S356F|NDRG2_ENST00000554143.1_Missense_Mutation_p.S356F|NDRG2_ENST00000397844.2_Missense_Mutation_p.S340F|NDRG2_ENST00000403829.3_Missense_Mutation_p.S366F|NDRG2_ENST00000554104.1_Missense_Mutation_p.S283F|NDRG2_ENST00000360463.3_Missense_Mutation_p.S356F|NDRG2_ENST00000397853.3_Missense_Mutation_p.S370F|NDRG2_ENST00000397856.3_Missense_Mutation_p.S340F|NDRG2_ENST00000298684.5_Missense_Mutation_p.S327F|NDRG2_ENST00000397858.1_Missense_Mutation_p.S370F|NDRG2_ENST00000397847.2_Missense_Mutation_p.S359F|NDRG2_ENST00000350792.3_Missense_Mutation_p.S356F|NDRG2_ENST00000397851.2_Missense_Mutation_p.S370F|NDRG2_ENST00000555158.1_Missense_Mutation_p.S356F|NDRG2_ENST00000397855.3_Missense_Mutation_p.S327F			Q9UN36	NDRG2_HUMAN	NDRG family member 2	370					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CATTCAACAGGAGACCTCCAT	0.632000													3	7					0	0	0.00024832	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:100263983G>A	ENST00000515683.1	-	0	1148					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													101	210					0	0	0.000781405	0	0
OR1J4	26219	broad.mit.edu	37	9	125281448	125281448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125281448C>T	ENST00000340750.1	+	1	29	c.29C>T	c.(28-30)tCt>tTt	p.S10F		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						AGCAGTGTGTCTGAGTTCCTC	0.502000													22	96					0	0	0.00278032	0	0
FAM153C	653316	broad.mit.edu	37	5	177468702	177468702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:177468702G>A	ENST00000398106.2	+	6	595	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	FAM153C_ENST00000507848.1_Missense_Mutation_p.E48K|FAM153C_ENST00000511189.1_Missense_Mutation_p.E77K					family with sequence similarity 153, member C											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTGACCTGGAAGACCTGGA	0.527000													72	139					0	0	0.000781405	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509276	110509276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110509276G>A	ENST00000378402.5	+	64	10560	c.10456G>A	c.(10456-10458)Gat>Aat	p.D3486N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3486					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)			GACATGCTGGGATTATGGAAT	0.338000										HNSCC(38;0.096)			26	83					0	0	0.000878237	0	0
CYCS	54205	broad.mit.edu	37	7	25163633	25163633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:25163633G>A	ENST00000305786.2	-	2	275	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	CYCS_ENST00000409764.1_Missense_Mutation_p.L36F|CYCS_ENST00000409409.1_Missense_Mutation_p.L36F	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	36					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	CGCCCAAAGAGACCATGGAGA	0.448000													20	53					0	0	0.000958276	0	0
CHD4	1108	broad.mit.edu	37	12	6715448	6715448	+	Missense_Mutation	SNP	G	G	A	rs138912992		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6715448G>A	ENST00000309577.6	-	2	255	c.92C>T	c.(91-93)cCc>cTc	p.P31L	CHD4_ENST00000544484.1_Missense_Mutation_p.P31L|CHD4_ENST00000357008.2_Missense_Mutation_p.P31L|CHD4_ENST00000544040.1_Missense_Mutation_p.P31L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	31					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTGGGTGGGGTGGGGGCAG	0.657000													19	25					0	0	0.00152264	0	0
PCDH15	65217	broad.mit.edu	37	10	55568613	55568613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:55568613C>T	ENST00000395445.1	-	36	5591	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.E598K|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E929K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.E667K	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCACTTTCCACACCTCCT	0.507000										HNSCC(58;0.16)			6	5					0	0	0.000157383	0	0
FAM105A	54491	broad.mit.edu	37	5	14607499	14607499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:14607499C>T	ENST00000274217.3	+	6	679	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	187										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAGTTTTGGTCCTGAGAAGTA	0.378000													20	51					0	0	0.00229938	0	0
UNC13A	23025	broad.mit.edu	37	19	17741529	17741529	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:17741529C>T	ENST00000428389.2	-	30	3722	c.3723G>A	c.(3721-3723)ctG>ctA	p.L1241L	UNC13A_ENST00000519716.2_Silent_p.L1153L|UNC13A_ENST00000252773.7_Silent_p.L1153L|UNC13A_ENST00000550896.1_Silent_p.L1151L|UNC13A_ENST00000552293.1_Silent_p.L1153L|UNC13A_ENST00000551649.1_Silent_p.L1153L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1153					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATTCTCATCCAGCCACTGGA	0.582000													20	35					0	0	0.00047179	0	0
SPATA6L	55064	broad.mit.edu	37	9	4635384	4635384	+	Missense_Mutation	SNP	G	G	A	rs112181012		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:4635384G>A	ENST00000454239.2	-	5	487	c.242C>T	c.(241-243)gCc>gTc	p.A81V	SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Missense_Mutation_p.A95V|SPATA6L_ENST00000381895.5_5'UTR|SPATA6L_ENST00000475086.1_Intron			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	38																	TTCGTAGTAGGCCAACTCATC	0.443000													8	13					0	0	0.000274275	0	0
PTGFR	5737	broad.mit.edu	37	1	78958515	78958515	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:78958515C>T	ENST00000370756.3	+	2	324	c.87C>T	c.(85-87)tcC>tcT	p.S29S	PTGFR_ENST00000370757.3_Silent_p.S29S|PTGFR_ENST00000370758.1_Silent_p.S29S	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	29					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ACCGGCTTTCCGTATTTTTTT	0.438000													25	80					0	0	0.000586117	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101869	69101869	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:69101869C>T	ENST00000332644.5	-	3	401	c.240_splice	c.e3+1	p.K80_splice		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TCTGATTTACCTTAGTCTCAA	0.284000													11	22					0	0	0.000673444	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093207	30093207	+	RNA	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:30093207A>C	ENST00000567636.1	+	0	1582					NR_003558.1																						GGGAACCCCCACCAAGGATAC	0.532000													3	4					0	0	6.4e-05	0	0
CR1	1378	broad.mit.edu	37	1	207758215	207758215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:207758215C>T	ENST00000367049.4	+	33	5524	c.5524C>T	c.(5524-5526)Cgt>Tgt	p.R1842C	CR1_ENST00000367052.1_Missense_Mutation_p.R1392C|CR1_ENST00000367053.1_Missense_Mutation_p.R1392C|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R1392C|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R1392C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1392	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTTTCTGTTCGTGCTGGTCA	0.488000													32	61					0	0	0.0024448	0	0
N4BP2	55728	broad.mit.edu	37	4	40104546	40104546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:40104546C>T	ENST00000261435.6	+	4	1497	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	361	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCCACCTCCACCGATGTGGAA	0.517000													25	52					0	0	0.000720815	0	0
GNA11	2767	broad.mit.edu	37	19	3118967	3118967	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:3118967C>T	ENST00000078429.4	+	5	893	c.651C>T	c.(649-651)atC>atT	p.I217I	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	217					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GGAAGTGGATCCACTGCTTTG	0.617000			Mis		uveal melanoma								17	50					0	0	0.00152264	0	0
CDK13	8621	broad.mit.edu	37	7	40102466	40102466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:40102466C>T	ENST00000181839.4	+	8	3247	c.2642C>T	c.(2641-2643)cCa>cTa	p.P881L	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P881L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	881	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGGTACCGTCCACCTGAACTG	0.388000													120	248					0	0	0.000781405	0	0
ANKIB1	54467	broad.mit.edu	37	7	91924316	91924316	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:91924316C>T	ENST00000265742.3	+	2	400	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	8							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCACCAAATTCCGTAAAGCAC	0.388000													4	13					0	0	0.00024832	0	0
MISP	126353	broad.mit.edu	37	19	757656	757656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:757656C>T	ENST00000215582.6	+	2	813	c.710C>T	c.(709-711)cCc>cTc	p.P237L		NM_173481.2	NP_775752.1			mitotic spindle positioning																		TTCAACAAGCCCCACCTGGCC	0.682000													4	4					0	0	0.00116845	0	0
OR2L3	391192	broad.mit.edu	37	1	248223987	248223987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:248223987G>A	ENST00000359959.3	+	1	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			ATGCCCCATGGAAAATTACAA	0.408000													52	123					0	0	0.000781405	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:105367188C>T	ENST00000297581.2	+	3	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000													18	57					0	0	0.000958276	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777712	43777712	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:43777712C>T	ENST00000389420.3	-	30	4520	c.4521G>A	c.(4519-4521)caG>caA	p.Q1507Q		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1507	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTCAACCACCTGACCAACAC	0.502000													29	43					0	0	0.00127121	0	0
ERICH1	157697	broad.mit.edu	37	8	614674	614674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:614674G>A	ENST00000262109.7	-	6	1338	c.1261C>T	c.(1261-1263)Cat>Tat	p.H421Y	ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	421										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ACTCTGGCATGGTCTAGAAAG	0.348000													24	77					0	0	0.000720815	0	0
STRBP	55342	broad.mit.edu	37	9	125901814	125901814	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125901814G>A	ENST00000447404.2	-	13	1795	c.1491C>T	c.(1489-1491)acC>acT	p.T497T	STRBP_ENST00000360998.3_Silent_p.T483T|STRBP_ENST00000348403.5_Silent_p.T497T			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	497					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATACCTCTAAGGTACTGGAGG	0.289000													7	41					0	0	0.000157383	0	0
MARC1	64757	broad.mit.edu	37	1	220970051	220970051	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:220970051C>T	ENST00000366910.5	+	3	702	c.516C>T	c.(514-516)ttC>ttT	p.F172F	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	172							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TAACCAGCTTCCTGAAGTCAC	0.602000													9	26					0	0	0.000673444	0	0
HDAC9	9734	broad.mit.edu	37	7	18767315	18767315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:18767315C>T	ENST00000406451.3	+	13	1985	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	HDAC9_ENST00000432645.2_Missense_Mutation_p.S612F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S571F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S615F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	612					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACTCACTCTTCCCCTGCTGCC	0.587000													6	11					0	0	0.00116845	0	0
PREX2	80243	broad.mit.edu	37	8	69136817	69136817	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:69136817G>A	ENST00000288368.4	+	39	5008	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A		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	1577					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						AGAACACAGCGAAGAATTTGG	0.458000													10	36					0	0	0.000673444	0	0
PPP2CB	5516	broad.mit.edu	37	8	30655114	30655114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:30655114C>T	ENST00000221138.4	-	3	919	c.469G>A	c.(469-471)Gct>Act	p.A157T	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	157					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TCTACTAAAGCTGTAAGTGGA	0.383000													16	47					0	0	0.000958276	0	0
OR51A7	119687	broad.mit.edu	37	11	4929315	4929315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4929315C>T	ENST00000359350.4	+	1	716	c.716C>T	c.(715-717)aCc>aTc	p.T239I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCTAAATACCTGTGTCTCC	0.478000													46	120					0	0	0.000781405	0	0
FAM71B	153745	broad.mit.edu	37	5	156592675	156592675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:156592675C>T	ENST00000302938.4	-	1	600	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	169						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAAGTTTTTCCCAATAGCAA	0.498000													117	275					0	0	0.000781405	0	0
CLCN1	1180	broad.mit.edu	37	7	143017764	143017764	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143017764C>T	ENST00000343257.2	+	3	396	c.309C>T	c.(307-309)atC>atT	p.I103I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	103					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TAGATTGTATCCACCGCCTGG	0.438000													12	37					0	0	0.00136819	0	0
XRN2	22803	broad.mit.edu	37	20	21314391	21314391	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:21314391T>C	ENST00000377191.3	+	11	1078	c.983T>C	c.(982-984)gTt>gCt	p.V328A	XRN2_ENST00000539513.1_Missense_Mutation_p.V274A|XRN2_ENST00000430571.2_Missense_Mutation_p.V252A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	328					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ACATTTGATGTTGAGAGGAGC	0.428000													70	161					0	0	0.000781405	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83374994	83374994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:83374994C>T	ENST00000262752.2	-	9	695	c.688G>A	c.(688-690)Gct>Act	p.A230T	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A230T	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	230	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AATGAGTAAGCCTTCTTTTCT	0.373000													17	15					0	0	0.000958276	0	0
OR5D14	219436	broad.mit.edu	37	11	55563901	55563901	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:55563901G>A	ENST00000335605.1	+	1	870	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	290			L -> P (in dbSNP:rs297055).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L290L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAACCCTCTGATCTACAGCC	0.408000													24	16					0	0	0.00127121	0	0
CYLC2	1539	broad.mit.edu	37	9	105767772	105767772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:105767772G>A	ENST00000374798.3	+	5	929	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D287N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	287	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCAAAGGATgatgtcaagaa	0.398000													11	29					0	0	0.00136819	0	0
RRN3	54700	broad.mit.edu	37	16	15179506	15179506	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:15179506A>T	ENST00000198767.6	-	6	605	c.522T>A	c.(520-522)gaT>gaA	p.D174E	RRN3_ENST00000564131.1_Missense_Mutation_p.D174E|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.D141E|RRN3_ENST00000540462.1_Missense_Mutation_p.D25E|RRN3_ENST00000429751.2_Missense_Mutation_p.D144E|RRN3_ENST00000563559.1_Missense_Mutation_p.D174E	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	174					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TATCATCTTCATCATCAGAAT	0.403000													12	17					0	0	0.00185496	0	0
MYH15	22989	broad.mit.edu	37	3	108195301	108195301	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:108195301G>A	ENST00000273353.3	-	13	1292	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	412	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTAGGATGGATCAAGCACT	0.388000													14	33					0	0	0.00185496	0	0
ELAC1	55520	broad.mit.edu	37	18	48500853	48500853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:48500853C>T	ENST00000269466.3	+	2	186	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	ELAC1_ENST00000591429.1_Missense_Mutation_p.R27W|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.R27W|ELAC1_ENST00000588577.1_Missense_Mutation_p.R27W|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_5'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	27					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGTGGTCCTTCGGTGTGAAGG	0.532000													11	36					0	0	0.000978159	0	0
EMR1	2015	broad.mit.edu	37	19	6904109	6904109	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6904109C>T	ENST00000312053.4	+	8	902	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.L237L|EMR1_ENST00000381407.5_Silent_p.L148L|EMR1_ENST00000250572.8_Silent_p.L289L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	289	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CACCAATGCCCTGGGCTCCTA	0.473000													24	52					0	0	0.000720815	0	0
ACE2	59272	broad.mit.edu	37	X	15605946	15605946	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:15605946C>T	ENST00000427411.1	-	7	948	c.732G>A	c.(730-732)gtG>gtA	p.V244V	ACE2_ENST00000252519.3_Silent_p.V244V	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	244					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACTTTGCCCTCACATAGGCAT	0.398000													33	18					0	0	0.00128727	0	0
CD2	914	broad.mit.edu	37	1	117311132	117311132	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:117311132G>A	ENST00000369478.3	+	5	891	c.783G>A	c.(781-783)agG>agA	p.R261R		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	261					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CTGAAGAAAGGGGCCGGAAGC	0.512000													5	25					0	0	0.000602214	0	0
COBL	23242	broad.mit.edu	37	7	51097239	51097239	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:51097239G>A	ENST00000395542.2	-	12	1984	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	COBL_ENST00000265136.7_Silent_p.I518I			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	518										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATGCACCATGGATGGAGCTGG	0.488000													27	59					0	0	0.0024448	0	0
AP2A2	161	broad.mit.edu	37	11	993824	993824	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:993824C>T	ENST00000448903.2	+	13	1762	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	AP2A2_ENST00000332231.5_Silent_p.L542L|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	541					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGCGCTGCTCCTGTCCACCTA	0.637000													3	10					0	0	0.000602214	0	0
IBTK	25998	broad.mit.edu	37	6	82924094	82924094	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:82924094A>T	ENST00000306270.7	-	12	2603	c.2054T>A	c.(2053-2055)gTt>gAt	p.V685D	IBTK_ENST00000510291.1_Missense_Mutation_p.V685D|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	685					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACTTTTGTAAACTTCAAATGC	0.333000													23	78					0	0	0.00278032	0	0
ZNF710	374655	broad.mit.edu	37	15	90610516	90610516	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:90610516C>T	ENST00000268154.4	+	2	398	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACCTGGGGCCCGAGCTTTCAG	0.672000													16	6					0	0	0.000566183	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332526	22332526	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:22332526C>T	ENST00000558896.1	+	0	333																											TGCTATTGTCCTGGGAAACCT	0.388000													49	44					0	0	0.000781405	0	0
OR4C13	283092	broad.mit.edu	37	11	49974218	49974218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:49974218G>A	ENST00000555099.1	+	1	276	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCTGATCACAGATTCACTCTA	0.418000													49	140					0	0	0.000781405	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222032	140222032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140222032G>A	ENST00000531613.1	+	1	1126	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D376N	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCGTGAACGACCTCGATTC	0.502000													53	92					0	0	0.000781405	0	0
HYDIN	54768	broad.mit.edu	37	16	70891710	70891710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:70891710G>A	ENST00000393567.2	-	72	12343	c.12193C>T	c.(12193-12195)Ccc>Tcc	p.P4065S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4065										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTGTGCTCGGGAATTAGGAAG	0.468000													6	32					0	0	0.000274275	0	0
VIL1	7429	broad.mit.edu	37	2	219294026	219294026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:219294026G>A	ENST00000248444.5	+	7	674	c.586G>A	c.(586-588)Gag>Aag	p.E196K	VIL1_ENST00000440053.1_Missense_Mutation_p.E196K|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	196	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGCCAAGGAGATCCGAGA	0.617000													15	37					0	0	0.000566183	0	0
WASF3	10810	broad.mit.edu	37	13	27250709	27250709	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:27250709C>T	ENST00000335327.5	+	7	742	c.564C>T	c.(562-564)acC>acT	p.T188T	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	188					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TAGATGGCACCACCCGTGAGG	0.463000													16	40					0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179416592	179416592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179416592C>T	ENST00000589042.1	-	335	91259	c.91035G>A	c.(91033-91035)tgG>tgA	p.W30345*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W28704*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W27777*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21405*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21280*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21472*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28704	Fibronectin type-III 121.						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)			CTGGAGCATCCCAAGTTAGTG	0.408000													67	131					0	0	0.000781405	0	0
GALR1	2587	broad.mit.edu	37	18	74962745	74962745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:74962745G>A	ENST00000299727.3	+	1	241	c.241G>A	c.(241-243)Gac>Aac	p.D81N		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	81					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GAGCATCGCCGACCTGGCCTA	0.627000													27	48					0	0	0.00106085	0	0
IK	3550	broad.mit.edu	37	5	140039372	140039372	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140039372C>T	ENST00000417647.2	+	14	1366	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	409					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCAAGTCCATCAATGAAA	0.478000													4	2					0	0	0.000602214	0	0
AP001347.6	0	broad.mit.edu	37	21	15399842	15399842	+	RNA	SNP	C	C	T	rs13047459	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:15399842C>T	ENST00000428809.1	+	0	101																											TCTGCCACTCCCTCCGTCGCT	0.577000													9	21					0	0	0.000274275	0	0
POLR3E	55718	broad.mit.edu	37	16	22328451	22328451	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:22328451C>T	ENST00000299853.5	+	12	956	c.789C>T	c.(787-789)gcC>gcT	p.A263A	POLR3E_ENST00000418581.2_Silent_p.A227A|POLR3E_ENST00000564209.1_Silent_p.A263A|POLR3E_ENST00000359210.4_Silent_p.A263A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	263					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AGCCTGTGGCCCCCAGCAACG	0.632000													25	59					0	0	0.00209593	0	0
TENM1	10178	broad.mit.edu	37	X	123539077	123539077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:123539077G>A	ENST00000422452.2	-	27	5258	c.5195C>T	c.(5194-5196)tCc>tTc	p.S1732F	TENM1_ENST00000371130.3_Missense_Mutation_p.S1725F|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GACACGCAGGGAACCATCTGG	0.537000													23	10					0	0	0.00278032	0	0
UST	10090	broad.mit.edu	37	6	149262487	149262487	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:149262487C>T	ENST00000367463.4	+	3	467	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	122					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGTCTTGCTTCTGAGAATCTT	0.438000													34	79					0	0	0.00058488	0	0
STK24	8428	broad.mit.edu	37	13	99115960	99115960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:99115960G>A	ENST00000397517.2	-	7	990	c.914C>T	c.(913-915)tCc>tTc	p.S305F	STK24_ENST00000539966.1_Missense_Mutation_p.S286F|STK24_ENST00000376547.3_Missense_Mutation_p.S317F	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	317					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGAATCCTCGGAGCTCGAGTC	0.522000													7	20					0	0	0.000157383	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691074	88691074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:88691074C>T	ENST00000301011.5	+	12	2163	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P679S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	655	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AACCACTGCTCCTGTCCCCGA	0.692000													7	12					0	0	0.000673444	0	0
KRT9	3857	broad.mit.edu	37	17	39725762	39725762	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:39725762G>A	ENST00000246662.4	-	4	1025	c.960C>T	c.(958-960)acC>acT	p.T320T	KRT9_ENST00000588431.1_Silent_p.T87T	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	320	Linker 12.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGAGGGTCTTGGTGAGATCTT	0.498000													40	54					0	0	0.00170553	0	0
NOS3	4846	broad.mit.edu	37	7	150695477	150695477	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:150695477G>A	ENST00000297494.3	+	6	972	c.615G>A	c.(613-615)caG>caA	p.Q205Q	NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Silent_p.Q205Q|NOS3_ENST00000484524.1_Silent_p.Q205Q	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	205	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGTCTGCACAGGAAATGTTCA	0.617000													9	24					0	0	0.000673444	0	0
GPR112	139378	broad.mit.edu	37	X	135429748	135429748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:135429748G>A	ENST00000394143.1	+	6	4174	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	GPR112_ENST00000287534.4_Missense_Mutation_p.E1232K|GPR112_ENST00000412101.1_Missense_Mutation_p.E1090K|GPR112_ENST00000394141.1_Missense_Mutation_p.E1090K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1295K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1295					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)					TCCATCTTTGGAAATGACAGA	0.433000													27	16					0	0	0.000878237	0	0
DSP	1832	broad.mit.edu	37	6	7580162	7580162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7580162C>T	ENST00000379802.3	+	23	4080	c.3739C>T	c.(3739-3741)Cga>Tga	p.R1247*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1247	Central fibrous rod domain.				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)		AAGGGAAAATCGAGATCTGAA	0.443000													22	54					0	0	0.00229938	0	0
ABCG1	9619	broad.mit.edu	37	21	43710228	43710228	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43710228G>A	ENST00000398437.1	+	12	1915	c.1767G>A	c.(1765-1767)ggG>ggA	p.G589G	ABCG1_ENST00000398457.2_Silent_p.G433G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.G442G|ABCG1_ENST00000340588.4_Silent_p.G551G|ABCG1_ENST00000347800.2_Silent_p.G428G|ABCG1_ENST00000361802.2_Silent_p.G443G|ABCG1_ENST00000398449.3_Silent_p.G431G			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	443	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGTACTTGGGGATCGGGAACG	0.572000													27	63					0	0	0.00127121	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560087	44560087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:44560087C>T	ENST00000332567.4	-	1	1901	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	517	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCTGGAGCCCGAGTACACC	0.617000													34	91					0	0	0.00111076	0	0
IVL	3713	broad.mit.edu	37	1	152882513	152882513	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152882513G>A	ENST00000368764.3	+	2	304	c.240G>A	c.(238-240)aaG>aaA	p.K80K	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	80					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aacagcagaaggagccacagg	0.522000													11	34					0	0	0.000673444	0	0
EPHA6	285220	broad.mit.edu	37	3	96533487	96533487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:96533487C>T	ENST00000389672.5	+	1	58	c.20C>T	c.(19-21)cCa>cTa	p.P7L	EPHA6_ENST00000470610.2_Missense_Mutation_p.P7L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCTCGCCTCCAGCCGCGAGG	0.697000													8	23					0	0	0.000673444	0	0
VCAM1	7412	broad.mit.edu	37	1	101197031	101197031	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:101197031C>T	ENST00000294728.2	+	6	1583	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	VCAM1_ENST00000370119.4_Silent_p.F432F|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Silent_p.F402F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	494	Ig-like C2-type 5.				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)	ACATGGAATTCGAACCCAAAC	0.378000													26	60					0	0	0.00209593	0	0
ZNF536	9745	broad.mit.edu	37	19	30934939	30934939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:30934939C>T	ENST00000355537.3	+	2	617	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	157					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)					GGCGAGAAGCCCTTCAAGTGC	0.652000													5	24					0	0	0.00116845	0	0
KEL	3792	broad.mit.edu	37	7	142643326	142643326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142643326G>A	ENST00000355265.2	-	11	1756	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	428					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGGCCTCACGAACAAACAAA	0.592000													10	27					0	0	0.000978159	0	0
PTPRB	5787	broad.mit.edu	37	12	70988436	70988436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:70988436C>T	ENST00000334414.6	-	6	1371	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	PTPRB_ENST00000451516.2_Missense_Mutation_p.G225S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G442S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G225S|PTPRB_ENST00000261266.5_Missense_Mutation_p.G225S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G443S|PTPRB_ENST00000550857.1_Missense_Mutation_p.G225S|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	225	Fibronectin type-III 5.				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)			TTCCCAGAACCATGGGACCAG	0.438000													18	40					0	0	0.00188189	0	0
DSC3	1825	broad.mit.edu	37	18	28574293	28574293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:28574293C>T	ENST00000360428.4	-	16	2619	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	847					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGGACATAATCTTGGGATGGC	0.358000													21	42					0	0	0.00229938	0	0
CTU1	90353	broad.mit.edu	37	19	51602353	51602353	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:51602353G>A	ENST00000421832.2	-	3	596	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_145232.3	NP_660275.2	Q7Z7A3	CTU1_HUMAN	cytosolic thiouridylase subunit 1	184					tRNA thio-modification|tRNA wobble uridine modification	cytosol	ATP binding|protein binding|transferase activity|tRNA binding			large_intestine(2)|lung(1)|urinary_tract(1)	4						cgccccgTAGGAAGTTCATGA	0.766000													4	15					0	0	0.00024832	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298254	4298254	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:4298254C>T	ENST00000301272.2	-	2	180	c.135G>A	c.(133-135)caG>caA	p.Q45Q	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Silent_p.Q45Q|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	45	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTCCACCTGGCAGACCA	0.632000													9	15					0	0	0.000274275	0	0
KAT6A	7994	broad.mit.edu	37	8	41790402	41790402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:41790402G>A	ENST00000396930.3	-	18	5879	c.5336C>T	c.(5335-5337)tCc>tTc	p.S1779F	KAT6A_ENST00000265713.2_Missense_Mutation_p.S1779F|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1779F	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1779					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGTTGCATAGGAAGTCACAGC	0.537000													46	115					0	0	0.000781405	0	0
BAI3	577	broad.mit.edu	37	6	69348689	69348689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:69348689C>T	ENST00000370598.1	+	3	943	c.122C>T	c.(121-123)tCg>tTg	p.S41L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	41	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTATGGATCGTATTCTGTA	0.368000													20	43					0	0	0.00188189	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101929	82101929	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:82101929G>A	ENST00000199936.4	+	2	613	c.420G>A	c.(418-420)acG>acA	p.T140T	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	140					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGGACATCACGAAGCCAGTGC	0.537000													4	18					0	0	0.00024832	0	0
CCBE1	147372	broad.mit.edu	37	18	57103238	57103238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:57103238G>A	ENST00000439986.4	-	11	1160	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	CCBE1_ENST00000398179.2_Missense_Mutation_p.P104S	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	375					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGGTAGCTGGGAAATTCCTGA	0.537000													39	99					0	0	0.00111076	0	0
TRPM2	7226	broad.mit.edu	37	21	45861640	45861640	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:45861640C>T	ENST00000397928.1	+	32	4897	c.4452C>T	c.(4450-4452)ctC>ctT	p.L1484L	TRPM2_ENST00000397932.2_Silent_p.L1534L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.L1430L|TRPM2_ENST00000300482.5_Silent_p.L1484L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1484	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCATCCCACTCTATGCGAACC	0.642000													13	25					0	0	0.000308642	0	0
BTN1A1	696	broad.mit.edu	37	6	26508836	26508836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:26508836G>A	ENST00000244513.6	+	7	1081	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	339	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGAGAAAACAGAGAGATTTGA	0.517000													37	163					0	0	0.000814825	0	0
DCC	1630	broad.mit.edu	37	18	50432551	50432551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:50432551C>T	ENST00000442544.2	+	3	1166	c.550C>T	c.(550-552)Cca>Tca	p.P184S	DCC_ENST00000412726.1_Missense_Mutation_p.P32S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	184	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GACTCCAATCCCAGGTGACTC	0.542000													17	30					0	0	0.000422831	0	0
DHX9	1660	broad.mit.edu	37	1	182856422	182856422	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:182856422C>T	ENST00000367549.3	+	28	3776	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1222	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGGAGTTTCCCGAGGTGGCT	0.587000													21	40					0	0	0.00278032	0	0
CACNA1B	774	broad.mit.edu	37	9	140995575	140995575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:140995575G>A	ENST00000371365.2	+	4	379	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1748					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)	TCATTATAAGGATATGTACAG	0.527000													4	30					0	0	0.000602214	0	0
GBP3	2635	broad.mit.edu	37	1	89476671	89476671	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:89476671C>T	ENST00000370481.4	-	8	1498	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	426						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCCTGGTTTCGAATAAATTC	0.413000													69	262					0	0	0.000781405	0	0
RGPD4	285190	broad.mit.edu	37	2	108487530	108487530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:108487530G>A	ENST00000408999.3	+	20	3147	c.3070G>A	c.(3070-3072)Gat>Aat	p.D1024N	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1024N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1024					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTTTGAGAAAGATGATGATGC	0.398000													109	222					0	0	0.000781405	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509196	106509196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:106509196G>A	ENST00000359195.3	+	2	1500	c.1190G>A	c.(1189-1191)aGg>aAg	p.R397K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R397K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R397K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	397					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTTTGCCAAAGGAGAACCAGC	0.502000													12	43					0	0	0.000308642	0	0
MAMLD1	10046	broad.mit.edu	37	X	149613849	149613849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:149613849C>T	ENST00000370401.2	+	2	377	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	MAMLD1_ENST00000426613.2_Missense_Mutation_p.R23C|MAMLD1_ENST00000432680.2_Missense_Mutation_p.R23C|MAMLD1_ENST00000262858.5_Missense_Mutation_p.R23C|MAMLD1_ENST00000468306.1_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	23					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGGAAATCGTCAGGAGCC	0.463000													10	19					0	0	0.000978159	0	0
NRSN1	140767	broad.mit.edu	37	6	24145875	24145875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:24145875G>A	ENST00000378491.4	+	4	590	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	97					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGGCGAAGCCGATTTTGTGGT	0.507000													18	69					0	0	0.00074312	0	0
SLC27A2	11001	broad.mit.edu	37	15	50528280	50528280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:50528280C>T	ENST00000267842.5	+	10	2082	c.1850C>T	c.(1849-1851)aCc>aTc	p.T617I	SLC27A2_ENST00000544960.1_Missense_Mutation_p.T382I|SLC27A2_ENST00000380902.4_Missense_Mutation_p.T564I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	617					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGTGCTAAAACCCTGAAACTC	0.378000													23	26					0	0	0.00127121	0	0
MTFR1	9650	broad.mit.edu	37	8	66619433	66619433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:66619433C>T	ENST00000262146.4	+	6	832	c.706C>T	c.(706-708)Cca>Tca	p.P236S	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.P203S	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	236						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			ACCTGAAATGCCAAATATGCT	0.388000													18	55					0	0	0.000958276	0	0
SPINK9	643394	broad.mit.edu	37	5	147716009	147716009	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:147716009A>G	ENST00000511717.2	+	3	413	c.143A>G	c.(142-144)aAa>aGa	p.K48R	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.K27R			Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	27	Kazal-like.	Reactive bond (By similarity).				extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGACGAAACAGATGGTC	0.299000													34	88					0	0	0.00128727	0	0
DNAH17	8632	broad.mit.edu	37	17	76457748	76457748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:76457748G>A	ENST00000389840.5	-	58	9299	c.9175C>T	c.(9175-9177)Ctc>Ttc	p.L3059F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.L3068F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTGCTTGAGCTCAGCCTCC	0.567000													6	10					0	0	0.00198382	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6422912	6422912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6422912C>T	ENST00000449001.2	+	2	654	c.160C>T	c.(160-162)Cat>Tat	p.H54Y	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.H86Y|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.H86Y|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.H86Y	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	86					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCACGGGGGCCATGTGGGGGC	0.637000													16	33					0	0	0.00188189	0	0
TIMD4	91937	broad.mit.edu	37	5	156381622	156381622	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:156381622G>A	ENST00000274532.2	-	2	260	c.204C>T	c.(202-204)ctC>ctT	p.L68L	TIMD4_ENST00000407087.3_Silent_p.L68L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	68	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTGCGGATGAGCGCCTCCT	0.527000													125	328					0	0	0.000781405	0	0
NLRC5	84166	broad.mit.edu	37	16	57054867	57054867	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:57054867G>A	ENST00000436936.1	+	3	468	c.243G>A	c.(241-243)gaG>gaA	p.E81E	NLRC5_ENST00000539144.1_Silent_p.E81E|NLRC5_ENST00000262510.6_Silent_p.E81E|NLRC5_ENST00000308149.7_Silent_p.E81E			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	81					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCAGCTGGAGGTGCCTCTGG	0.552000													8	19					0	0	0.000274275	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149099	142149099	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142149099G>A	ENST00000390372.3	-	0	178																											CCCTGACCCAGGACCTGTTGG	0.498000													17	43					0	0	0.00074312	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800571	185800571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:185800571G>A	ENST00000302277.6	+	4	1042	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	150						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						AAACTGTAATGAAATTTCCCA	0.373000													14	46					0	0	0.00244969	0	0
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:5969065C>T	ENST00000329564.6	+	1	496	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443000													24	56					0	0	0.00278032	0	0
HTRA1	5654	broad.mit.edu	37	10	124271522	124271522	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124271522C>T	ENST00000368984.3	+	8	1343	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	405	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACCGGGACTTCCCAGACGTGA	0.483000													23	26					0	0	0.00106085	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108111	64108111	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:64108111G>A	ENST00000356786.5	+	2	137	c.93G>A	c.(91-93)gcG>gcA	p.A31A	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	31					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCggggaggcggaggactcgg	0.682000													20	20					0	0	0.00047179	0	0
CES5A	221223	broad.mit.edu	37	16	55880590	55880590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:55880590G>A	ENST00000521992.1	-	14	1733	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S	CES5A_ENST00000319165.9_Missense_Mutation_p.P451S|CES5A_ENST00000290567.9_Missense_Mutation_p.P501S|CES5A_ENST00000518005.1_Missense_Mutation_p.P395S|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.P471S	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	501						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTCCCATTAGGATTCCTAGAA	0.542000													17	87					0	0	0.000422831	0	0
CD177	57126	broad.mit.edu	37	19	43866475	43866475	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:43866475C>T	ENST00000378009.4	+	0	1478				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCTGCTAACTCTATTACCCCC	0.592000													4	7					0	0	0.00024832	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569483	76569483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:76569483C>T	ENST00000307431.8	+	19	3179	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R860W|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R884W|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R936W	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	933	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGGCTGCATTCGGTCTCTGCA	0.493000													22	38					0	0	0.00047179	0	0
SDPR	8436	broad.mit.edu	37	2	192701434	192701434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:192701434C>T	ENST00000304141.4	-	2	822	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	165						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCAGGGATCTCATTTTCCTCC	0.468000													6	12					0	0	0.00198382	0	0
TNS4	84951	broad.mit.edu	37	17	38652320	38652320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:38652320G>A	ENST00000254051.6	-	2	516	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	120					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTCCCTGGGGGAAGCAGCTGG	0.577000													27	82					0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179549655	179549655	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179549655C>T	ENST00000589042.1	-	130	32756	c.32532G>A	c.(32530-32532)aaG>aaA	p.K10844K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.K10527K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.K9600K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10527	Glu-rich.|Pro-rich.						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)			GCACCTTTTCCTTTTTAGGAA	0.318000													8	23					0	0	0.000274275	0	0
OR13C3	138803	broad.mit.edu	37	9	107298917	107298917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107298917G>A	ENST00000374781.2	-	1	220	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ACTAGAATGAGAGCAAAGTAA	0.383000													26	40					0	0	0.00209593	0	0
CD164L2	388611	broad.mit.edu	37	1	27706566	27706566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:27706566C>T	ENST00000374027.3	-	5	556	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	CD164L2_ENST00000374030.1_Missense_Mutation_p.A165T	NM_207397.2	NP_997280.1	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	165						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTCCTTGGCCTTGAGGAAG	0.602000													53	60					0	0	0.000781405	0	0
MYH8	4626	broad.mit.edu	37	17	10297710	10297710	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10297710C>T	ENST00000403437.2	-	35	5116	c.5022G>A	c.(5020-5022)ctG>ctA	p.L1674L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1674					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCACAATTGCCAGCTGTTCCT	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				12	17					0	0	0.000978159	0	0
ITGAL	3683	broad.mit.edu	37	16	30495274	30495274	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:30495274C>T	ENST00000356798.6	+	8	1029	c.849C>T	c.(847-849)atC>atT	p.I283I	ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I200I|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	283	VWFA.				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)	TCCGCTACATCATCGGGGTAG	0.562000													44	87					0	0	0.000781405	0	0
MB21D2	151963	broad.mit.edu	37	3	192516332	192516332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:192516332G>A	ENST00000392452.2	-	2	1639	c.1319C>T	c.(1318-1320)cCa>cTa	p.P440L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	440										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GTCAGACTGTGGAGAGGGGAT	0.582000													27	62					0	0	0.00209593	0	0
MBD5	55777	broad.mit.edu	37	2	149247566	149247566	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:149247566C>T	ENST00000407073.1	+	12	4663	c.3666C>T	c.(3664-3666)atC>atT	p.I1222I	MBD5_ENST00000404807.1_Silent_p.I1455I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1222						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGGCCATATCCACAGTAGTC	0.502000													24	61					0	0	0.00229938	0	0
CACNA1E	777	broad.mit.edu	37	1	181708310	181708310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:181708310G>A	ENST00000526775.1	+	24	3748	c.3583G>A	c.(3583-3585)Gat>Aat	p.D1195N	CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1195N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D821N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1165N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1214N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1146N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1214N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1214					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATCCTGCAGGATGGGTCCTA	0.498000													38	108					0	0	0.00148497	0	0
COBL	23242	broad.mit.edu	37	7	51097132	51097132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:51097132G>A	ENST00000395542.2	-	12	2091	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	COBL_ENST00000265136.7_Missense_Mutation_p.S554L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	554										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAACAACCCCGAATCCACAGG	0.532000													14	17					0	0	0.000308642	0	0
A2M	2	broad.mit.edu	37	12	9264772	9264772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:9264772G>A	ENST00000318602.7	-	4	773	c.466C>T	c.(466-468)Cac>Tac	p.H156Y		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	156					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCAGGGGGTGAAAGTTTTCA	0.418000													16	43					0	0	0.00121646	0	0
TRGC2	6967	broad.mit.edu	37	7	38289004	38289004	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:38289004G>A	ENST00000436911.2	-	0	169																											TCCCCTCCTGGGATCCCAGAA	0.418000													87	171					0	0	0.000781405	0	0
ZP2	7783	broad.mit.edu	37	16	21218165	21218165	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21218165G>A	ENST00000574002.1	-	6	959	c.477C>T	c.(475-477)ttC>ttT	p.F159F	ZP2_ENST00000219593.4_Silent_p.F159F|ZP2_ENST00000574091.1_Silent_p.F159F			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	159					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCACAGACATGAAATCCTTCT	0.493000													40	61					0	0	0.00170553	0	0
ZNF626	199777	broad.mit.edu	37	19	20828490	20828490	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:20828490C>T	ENST00000601440.1	-	3	372	c.226_splice	c.e3+1	p.V76_splice	ZNF626_ENST00000291750.6_Splice_Site_p.V76_splice|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCACACCTACCTGAGGGTTTG	0.438000													18	48					0	0	0.00074312	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84683372	84683372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:84683372C>T	ENST00000286744.5	+	24	4276	c.4052C>T	c.(4051-4053)tCc>tTc	p.S1351F	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1351F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1351	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAATGGATCCCTGTTGTTG	0.438000													104	28					0	0	0.000781405	0	0
USO1	8615	broad.mit.edu	37	4	76714942	76714942	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:76714942C>A	ENST00000538159.1	+	13	1346	c.1346C>A	c.(1345-1347)gCg>gAg	p.A449E	USO1_ENST00000514213.2_Missense_Mutation_p.A432E			O60763	USO1_HUMAN	USO1 vesicle transport factor	447	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTGCCCATGCGTTGCAAGAA	0.453000													17	31					6.49762e-13	2.53542e-12	0.00074312	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603310	138603310	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:138603310G>A	ENST00000440172.1	-	2	1110	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	KIAA1549_ENST00000422774.1_Silent_p.F354F|KIAA1549_ENST00000242365.4_Silent_p.F304F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	354						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGTCCTGCTGAATGCAAGGG	0.488000			O	BRAF	pilocytic astrocytoma								39	101					0	0	0.00148497	0	0
TNNT3	7140	broad.mit.edu	37	11	1956059	1956059	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:1956059G>A	ENST00000381558.1	+	13	846	c.566_splice	c.e13-1	p.R189_splice	TNNT3_ENST00000381579.3_Splice_Site_p.R189_splice|TNNT3_ENST00000360603.3_Splice_Site_p.R191_splice|TNNT3_ENST00000446240.1_Splice_Site_p.R178_splice|TNNT3_ENST00000278317.6_Splice_Site_p.R197_splice|TNNT3_ENST00000381548.3_Splice_Site_p.R199_splice|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Splice_Site_p.R195_splice|TNNT3_ENST00000397301.1_Splice_Site_p.R208_splice|TNNT3_ENST00000381549.3_Splice_Site_p.R189_splice|TNNT3_ENST00000397304.2_Splice_Site_p.R178_splice|TNNT3_ENST00000381561.4_Splice_Site_p.R200_splice			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	208					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TCTGCCCCAGGGACAAGGCCA	0.602000													48	114					0	0	0.000781405	0	0
MDGA1	266727	broad.mit.edu	37	6	37605941	37605941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:37605941C>T	ENST00000505425.1	-	16	2815	c.2816G>A	c.(2815-2817)gGg>gAg	p.G939E	MDGA1_ENST00000434837.2_Intron|MDGA1_ENST00000297153.7_Intron			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	939					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCACAGCTCCCTCCAGATTC	0.557000													5	14					0	0	0.00116845	0	0
MEGF8	1954	broad.mit.edu	37	19	42861645	42861645	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:42861645C>T	ENST00000334370.4	+	27	5354	c.4719C>T	c.(4717-4719)tcC>tcT	p.S1573S	MEGF8_ENST00000251268.6_Silent_p.S1640S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1640						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCGGTTACTCCCCGGAAAATG	0.667000													9	31					0	0	0.000673444	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605203	142605203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:142605203G>A	ENST00000370503.2	-	1	100	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	6										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGGTGCTGGAAGTTGGCTG	0.453000													44	44					0	0	0.000781405	0	0
ASGR2	433	broad.mit.edu	37	17	7012104	7012104	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:7012104C>T	ENST00000380952.2	-	3	492	c.228G>A	c.(226-228)gtG>gtA	p.V76V	ASGR2_ENST00000254850.7_Silent_p.V57V|ASGR2_ENST00000446679.2_Silent_p.V57V|ASGR2_ENST00000355035.5_Silent_p.V76V	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	76					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GGGACCCAGTCACACAGATGA	0.637000													9	9					0	0	0.000442599	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453483	20453483	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:20453483C>T	ENST00000377252.3	+	7	1711	c.870C>T	c.(868-870)atC>atT	p.I290I	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.I241I	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	290						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCCACAGGATCCAACAAATTC	0.448000													17	21					0	0	0.000958276	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317550	103317550	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:103317550A>T	ENST00000233969.2	+	8	1750	c.1608A>T	c.(1606-1608)aaA>aaT	p.K536N	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	536						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTGATGATAAATATCTGCGGA	0.294000													17	36					0	0	0.00074312	0	0
HIF3A	64344	broad.mit.edu	37	19	46842805	46842805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:46842805C>T	ENST00000339613.2	+	15	2023	c.1768C>T	c.(1768-1770)Ccg>Tcg	p.P590S	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.P644S|HIF3A_ENST00000244303.6_Missense_Mutation_p.P577S|HIF3A_ENST00000377670.4_Missense_Mutation_p.P646S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACTGCTCTCTCCGTACTCAGA	0.552000													24	69					0	0	0.00047179	0	0
TTC21A	199223	broad.mit.edu	37	3	39172499	39172499	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39172499C>T	ENST00000301819.6	+	19	2676	c.2499C>T	c.(2497-2499)tcC>tcT	p.S833S	TTC21A_ENST00000440121.1_Silent_p.S784S|TTC21A_ENST00000431162.2_Silent_p.S832S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	832							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACATCCCATCCATGATGAATG	0.433000													23	23					0	0	0.000720815	0	0
PFKFB4	5210	broad.mit.edu	37	3	48576723	48576723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:48576723G>A	ENST00000545984.1	-	5	452	c.407C>T	c.(406-408)tCt>tTt	p.S136F	PFKFB4_ENST00000232375.3_Silent_p.I158I|PFKFB4_ENST00000541519.1_Silent_p.I124I|PFKFB4_ENST00000416568.1_Silent_p.I158I|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Silent_p.I147I|PFKFB4_ENST00000383734.2_Silent_p.I158I			Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	0	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GATCCACACAGATGGACTCGA	0.567000													20	17					0	0	0.00047179	0	0
SLC26A9	115019	broad.mit.edu	37	1	205902149	205902149	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205902149G>A	ENST00000367135.3	-	3	302	c.189C>T	c.(187-189)ccC>ccT	p.P63P	SLC26A9_ENST00000340781.4_Silent_p.P63P|SLC26A9_ENST00000367134.2_Silent_p.P63P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	63						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCTTGTACTTGGGGAGCCAGG	0.562000													20	41					0	0	0.00229938	0	0
SORCS3	22986	broad.mit.edu	37	10	106970983	106970983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:106970983G>A	ENST00000369701.3	+	17	2577	c.2350G>A	c.(2350-2352)Ggt>Agt	p.G784S	SORCS3_ENST00000369699.4_Missense_Mutation_p.G70S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	784						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)		CTGCAGCCTTGGTCAAAGCTA	0.473000													6	21					0	0	0.00198382	0	0
FAT4	79633	broad.mit.edu	37	4	126242698	126242698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:126242698C>T	ENST00000394329.3	+	1	5145	c.5132C>T	c.(5131-5133)gCc>gTc	p.A1711V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1711	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATGTTTATGCCATAGAAAAA	0.398000													23	43					0	0	0.00278032	0	0
SCN10A	6336	broad.mit.edu	37	3	38793949	38793949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:38793949G>A	ENST00000449082.2	-	11	1515	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	506					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACCGGAAATGGAACACACTG	0.567000													7	12					0	0	0.000274275	0	0
MYO3A	53904	broad.mit.edu	37	10	26241088	26241088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:26241088C>T	ENST00000265944.5	+	3	215	c.49C>T	c.(49-51)Cct>Tct	p.P17S	MYO3A_ENST00000376302.1_Missense_Mutation_p.P17S|MYO3A_ENST00000543632.1_Missense_Mutation_p.P17S|MYO3A_ENST00000376301.1_Missense_Mutation_p.P17S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	17					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTTTCCTGATCCTTCTGATAC	0.333000													17	37					0	0	0.000422831	0	0
KCNB2	9312	broad.mit.edu	37	8	73849889	73849889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:73849889C>T	ENST00000523207.1	+	3	2887	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	767					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)			GGGAGACAGACCCTTGCTGGG	0.562000													24	48					0	0	0.00047179	0	0
DUSP27	92235	broad.mit.edu	37	1	167097246	167097246	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:167097246G>T	ENST00000361200.2	+	6	3044	c.2878G>T	c.(2878-2880)Ggg>Tgg	p.G960W	DUSP27_ENST00000271385.5_Missense_Mutation_p.G960W|DUSP27_ENST00000443333.1_Missense_Mutation_p.G960W|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	960	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGTTCCAGAGGGAAGTACAC	0.488000													10	26					7.48243e-07	2.90643e-06	0.000442599	1	0
MRGPRE	116534	broad.mit.edu	37	11	3249748	3249748	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:3249748G>A	ENST00000389832.5	-	2	588	c.282C>T	c.(280-282)ttC>ttT	p.F94F	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.F93F			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	93						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTCTGCACGAAGCCCGGGA	0.662000													7	29					0	0	0.000157383	0	0
AVPR1B	553	broad.mit.edu	37	1	206225064	206225064	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:206225064C>T	ENST00000367126.4	+	1	1089	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	208					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.F208F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCTATCTTCGTTCTGCCGG	0.612000													30	37					0	0	0.001512	0	0
MIR587	693172	broad.mit.edu	37	6	107231999	107231999	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:107231999C>T	ENST00000384845.1	+	0	0					NR_030314.1																						tctttctgcccctcctatgca	0.512000													14	36					0	0	0.000308642	0	0
SCARF1	8578	broad.mit.edu	37	17	1540267	1540267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:1540267G>A	ENST00000263071.4	-	9	1503	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	SCARF1_ENST00000571272.1_Missense_Mutation_p.S485F|SCARF1_ENST00000348987.3_Missense_Mutation_p.S399F	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	485	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAGCTGAGGGAACGGCAGGG	0.657000													19	19					0	0	0.000958276	0	0
ZNF132	7691	broad.mit.edu	37	19	58945690	58945690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:58945690G>A	ENST00000254166.3	-	3	1521	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCACTCAAAAGGCCTTTCTCC	0.458000													13	50					0	0	0.000422831	0	0
WNK2	65268	broad.mit.edu	37	9	96051797	96051797	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:96051797C>T	ENST00000297954.4	+	20	4872	c.4872C>T	c.(4870-4872)ccC>ccT	p.P1624P	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.P1587P|WNK2_ENST00000349097.3_Silent_p.P1236P|WNK2_ENST00000427277.2_Silent_p.P1199P			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1624					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGGAGCCCCTGAGAGGGG	0.692000													6	14					0	0	0.00198382	0	0
TMEM71	137835	broad.mit.edu	37	8	133734323	133734323	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:133734323G>A	ENST00000356838.3	-	7	800	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	TMEM71_ENST00000377901.4_Silent_p.L176L|TMEM71_ENST00000523829.1_Silent_p.L239L	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	239						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAGCAAGCAGGATTGCCTGA	0.348000													27	78					0	0	0.00127121	0	0
ROR2	4920	broad.mit.edu	37	9	94493352	94493352	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:94493352G>A	ENST00000375708.3	-	7	1221	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.A201A	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	341	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTGCTGCAGGGCCCACGGCT	0.627000													42	36					0	0	0.000680045	0	0
NLRP7	199713	broad.mit.edu	37	19	55450931	55450931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55450931G>A	ENST00000446217.1	-	6	1742	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	NLRP7_ENST00000448121.2_Missense_Mutation_p.A419V|NLRP7_ENST00000592784.1_Missense_Mutation_p.A419V|NLRP7_ENST00000590030.1_Missense_Mutation_p.A419V|NLRP7_ENST00000588756.1_Missense_Mutation_p.A419V|NLRP7_ENST00000340844.2_Missense_Mutation_p.A419V|NLRP7_ENST00000328092.5_Missense_Mutation_p.A419V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	419	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCCTGCGCGGCCAGGAGGCT	0.701000													9	19					0	0	0.000673444	0	0
SIK3	23387	broad.mit.edu	37	11	116728595	116728595	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:116728595C>A	ENST00000375300.1	-	20	3447	c.3442G>T	c.(3442-3444)Gaa>Taa	p.E1148*	SIK3_ENST00000542607.1_Nonsense_Mutation_p.E1030*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.E1088*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.E425*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.E929*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.E1090*|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1090						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCCCCAATTCTTGGGCATGA	0.507000													121	142					3.16226e-57	1.23805e-56	0.000781405	1	0
MDGA1	266727	broad.mit.edu	37	6	37619992	37619992	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:37619992G>A	ENST00000434837.2	-	7	2285	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	MDGA1_ENST00000505425.1_Silent_p.Y369Y|MDGA1_ENST00000297153.7_Silent_p.Y369Y	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	369	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAACCACTGGTAGGTCACCT	0.587000													23	80					0	0	0.00106085	0	0
DNAH8	1769	broad.mit.edu	37	6	38994366	38994366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38994366G>A	ENST00000359357.3	+	90	13362	c.13108G>A	c.(13108-13110)Ggc>Agc	p.G4370S	DNAH8_ENST00000441566.1_Missense_Mutation_p.G4334S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCCACAAAGGCTGGGCACT	0.493000													20	39					0	0	0.00188189	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:3216752G>A	ENST00000602557.1	-	22	3784	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCTAAACGATATCCCAGG	0.557000													17	48					0	0	0.00121646	0	0
TLL1	7092	broad.mit.edu	37	4	166978381	166978381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:166978381G>A	ENST00000061240.2	+	14	2413	c.1766G>A	c.(1765-1767)cGa>cAa	p.R589Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R612Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	589	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGAGCAGCGATGTCTGAAC	0.478000													24	48					0	0	0.000720815	0	0
TUFM	7284	broad.mit.edu	37	16	28855798	28855798	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:28855798G>A	ENST00000313511.3	-	6	897	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	250						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGTCCCGGGCGGGCACTGGGA	0.597000													10	24					0	0	0.000673444	0	0
C4orf22	255119	broad.mit.edu	37	4	81504291	81504291	+	Missense_Mutation	SNP	C	C	T	rs142731425	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:81504291C>T	ENST00000358105.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353000													33	57					0	0	0.00128727	0	0
FLT4	2324	broad.mit.edu	37	5	180048217	180048217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:180048217C>T	ENST00000261937.6	-	14	2134	c.2056G>A	c.(2056-2058)Gac>Aac	p.D686N	FLT4_ENST00000502649.1_Missense_Mutation_p.D686N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.D686N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	686	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGAGGTCGGTCAAGTTC	0.637000													16	28					0	0	0.000958276	0	0
WNT8A	7478	broad.mit.edu	37	5	137419860	137419860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:137419860C>T	ENST00000506684.1	+	1	280	c.44C>T	c.(43-45)cCa>cTa	p.P15L	WNT8A_ENST00000398754.1_Intron			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	0					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTCCTTTCCCAACCCTCACT	0.532000													16	39					0	0	0.000422831	0	0
OR6C4	341418	broad.mit.edu	37	12	55945239	55945239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:55945239C>T	ENST00000394256.2	+	1	257	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CATTTTTATTCCCAGATTTCT	0.418000													36	84					0	0	0.00058488	0	0
TUFM	7284	broad.mit.edu	37	16	28855799	28855799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:28855799G>A	ENST00000313511.3	-	6	896	c.758C>T	c.(757-759)cCc>cTc	p.P253L		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	250						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GTCCCGGGCGGGCACTGGGAT	0.597000													10	24					0	0	0.000673444	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802718	185802718	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:185802718C>T	ENST00000302277.6	+	4	3189	c.2595C>T	c.(2593-2595)atC>atT	p.I865I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	865						intracellular	zinc ion binding	p.I865I(1)		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						TTGCAAAAATCGAAAGGAACT	0.358000													20	50					0	0	0.00188189	0	0
CCDC138	165055	broad.mit.edu	37	2	109421374	109421374	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:109421374C>T	ENST00000295124.4	+	7	825	c.765C>T	c.(763-765)acC>acT	p.T255T	CCDC138_ENST00000412964.2_Silent_p.T255T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	255								p.T255T(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						AACACTTAACCGAAGTTCTTA	0.353000													32	83					0	0	0.00283554	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140134	40140134	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:40140134G>A	ENST00000325157.6	-	7	1624	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	458										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CATCTTTAAAGGAGGTAGAAG	0.468000													9	28					0	0	0.000442599	0	0
MIR520D	574482	broad.mit.edu	37	19	54223374	54223374	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:54223374G>A	ENST00000385002.1	+	0	25					NR_030204.1																						TCTACAAAGGGAAGCCCTTTC	0.403000													62	142					0	0	0.000781405	0	0
EPHA7	2045	broad.mit.edu	37	6	94066711	94066711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:94066711C>T	ENST00000369303.4	-	5	1232	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	350	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGACTCCATTCCAAACTTACT	0.453000													23	54					0	0	0.000720815	0	0
GPR162	27239	broad.mit.edu	37	12	6936219	6936219	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:6936219C>T	ENST00000311268.3	+	5	2404	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	GPR162_ENST00000428545.2_Silent_p.S255S|GPR162_ENST00000382315.3_Silent_p.S235S	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	539						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCCGACTCTCCCTTGGGTCCC	0.647000													22	74					0	0	0.00106085	0	0
DYSF	8291	broad.mit.edu	37	2	71840537	71840537	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:71840537C>T	ENST00000258104.3	+	40	4684	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I	DYSF_ENST00000409582.3_Silent_p.I1486I|DYSF_ENST00000409762.1_Silent_p.I1486I|DYSF_ENST00000409366.1_Silent_p.I1470I|DYSF_ENST00000394120.2_Silent_p.I1470I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.I1469I|DYSF_ENST00000413539.2_Silent_p.I1500I|DYSF_ENST00000409651.1_Silent_p.I1501I|DYSF_ENST00000410041.1_Silent_p.I1487I|DYSF_ENST00000409744.1_Silent_p.I1456I|DYSF_ENST00000410020.3_Silent_p.I1487I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1469						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						TCATCCCCATCCAGGTAGGAT	0.582000													9	17					0	0	0.000673444	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181746	47181746	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:47181746G>A	ENST00000447411.1	-	4	485	c.279C>T	c.(277-279)atC>atT	p.I93I	SLC38A4_ENST00000266579.4_Silent_p.I93I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	93					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAGCCCAGGATCCCACTGC	0.428000													19	42					0	0	0.00188189	0	0
OMA1	115209	broad.mit.edu	37	1	59002382	59002382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:59002382G>A	ENST00000371226.3	-	3	645	c.532C>T	c.(532-534)Cct>Tct	p.P178S	OMA1_ENST00000358603.2_Missense_Mutation_p.P178S|OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	178					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTCTTGTTAGGAGGAAGTGCC	0.348000													30	106					0	0	0.00058488	0	0
MBD3	53615	broad.mit.edu	37	19	1581157	1581157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:1581157G>A	ENST00000590550.2	-	4	816	c.443C>T	c.(442-444)cCc>cTc	p.P148L	MBD3_ENST00000434436.3_Missense_Mutation_p.P204L|MBD3_ENST00000585967.1_Intron|MBD3_ENST00000156825.1_Missense_Mutation_p.P204L|MBD3_ENST00000592012.1_Missense_Mutation_p.P172L			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	204					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATACGCCGGGGTTCTTCTC	0.657000													12	19					0	0	0.00136819	0	0
COPS4	51138	broad.mit.edu	37	4	83970440	83970440	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:83970440C>T	ENST00000509093.1	+	3	1054	c.276C>T	c.(274-276)atC>atT	p.I92I	COPS4_ENST00000503682.1_Silent_p.I92I|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000264389.2_Silent_p.I92I|COPS4_ENST00000511653.1_Silent_p.I92I	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	92					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TGGAAAAGATCCAGCCTAGAG	0.393000													21	44					0	0	0.00229938	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100004369	100004369	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100004369G>T	ENST00000398027.2	-	12	1365	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.P253Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.P374Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.P253Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	373	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATGTTGACTGGGATCCATGC	0.448000													20	60					1.50039e-11	5.85221e-11	0.00188189	1	0
UBXN7	26043	broad.mit.edu	37	3	196096312	196096312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:196096312G>A	ENST00000296328.4	-	7	760	c.686C>T	c.(685-687)tCc>tTc	p.S229F	UBXN7_ENST00000535858.1_Missense_Mutation_p.S81F|UBXN7_ENST00000428095.1_Missense_Mutation_p.S67F	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	229							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCCAATATGGAAACATAGGG	0.333000													13	43					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179645883	179645883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179645883C>T	ENST00000589042.1	-	21	3712	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	TTN_ENST00000591111.1_Missense_Mutation_p.G1163E|TTN_ENST00000342992.6_Missense_Mutation_p.G1163E|TTN_ENST00000359218.5_Missense_Mutation_p.G1117E|TTN_ENST00000360870.5_Missense_Mutation_p.G1163E|TTN_ENST00000460472.2_Missense_Mutation_p.G1117E|TTN_ENST00000342175.6_Missense_Mutation_p.G1117E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1163	Ig-like 4.						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)			AGAAGTTTCTCCATGCTTATT	0.408000													12	58					0	0	0.000978159	0	0
TSPAN17	26262	broad.mit.edu	37	5	176079893	176079893	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176079893C>T	ENST00000298564.10	+	2	386	c.237C>T	c.(235-237)ctC>ctT	p.L79L	TSPAN17_ENST00000405525.2_Silent_p.L145L|TSPAN17_ENST00000508164.1_Silent_p.L145L|TSPAN17_ENST00000503045.1_Silent_p.L122L|TSPAN17_ENST00000515708.1_Silent_p.L145L|TSPAN17_ENST00000310032.8_Silent_p.L145L			Q96FV3	TSN17_HUMAN	tetraspanin 17	145						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)			TCCAGAACCTCATTGACTTTG	0.537000													40	110					0	0	0.000781405	0	0
DNER	92737	broad.mit.edu	37	2	230282935	230282935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:230282935G>A	ENST00000341772.4	-	9	1632	c.1498C>T	c.(1498-1500)Ctc>Ttc	p.L500F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	500	EGF-like 7.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCACAGTAGAGGCCATGGTAA	0.552000													12	31					0	0	0.00185496	0	0
EPPK1	83481	broad.mit.edu	37	8	144941947	144941947	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:144941947C>T	ENST00000525985.1	-	2	5546	c.5475G>A	c.(5473-5475)gaG>gaA	p.E1825E				P58107	EPIPL_HUMAN	epiplakin 1	1825						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCAATTTCTCCAGGCCCC	0.547000													56	103					0	0	0.000781405	0	0
COL11A2	1302	broad.mit.edu	37	6	33135606	33135606	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:33135606G>A	ENST00000341947.2	-	55	4211	c.3984C>T	c.(3982-3984)tcC>tcT	p.S1328S	COL11A2_ENST00000374713.1_Silent_p.S1281S|COL11A2_ENST00000361917.1_Silent_p.S1221S|COL11A2_ENST00000374712.1_Silent_p.S1247S|COL11A2_ENST00000357486.1_Silent_p.S1307S|COL11A2_ENST00000374714.1_Silent_p.S1302S|COL11A2_ENST00000374708.4_Silent_p.S1242S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.S1268S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1328	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						GTCGCCCCTCGGAACCAGGCG	0.652000													9	36					0	0	0.000978159	0	0
IZUMO2	126123	broad.mit.edu	37	19	50655885	50655885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50655885C>T	ENST00000293405.3	-	7	647	c.647G>A	c.(646-648)cGa>cAa	p.R216Q		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	216						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CAGGAGTTTTCGGTTTTGTCT	0.403000													87	193					0	0	0.000781405	0	0
NIPBL	25836	broad.mit.edu	37	5	37048731	37048731	+	Silent	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:37048731C>A	ENST00000282516.8	+	39	7216	c.6717C>A	c.(6715-6717)acC>acA	p.T2239T	NIPBL_ENST00000448238.2_Silent_p.T2239T	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2239					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTCCAGACCTACCTACAAG	0.294000													6	54					0.00116845	0.0045107	0.00116845	1	0
DBX2	440097	broad.mit.edu	37	12	45417608	45417608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:45417608C>T	ENST00000332700.6	-	3	740	c.569G>A	c.(568-570)aGa>aAa	p.R190K		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAAGACAGCTCTTCTTAAAAT	0.443000													37	74					0	0	0.000814825	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			41	45					0	0	0.000680045	0	0
TDRD1	56165	broad.mit.edu	37	10	115985903	115985903	+	Missense_Mutation	SNP	C	C	T	rs141065182		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:115985903C>T	ENST00000251864.2	+	22	3256	c.3103C>T	c.(3103-3105)Ctt>Ttt	p.L1035F	TDRD1_ENST00000369282.1_Missense_Mutation_p.L1035F|TDRD1_ENST00000422662.1_Missense_Mutation_p.L639F|TDRD1_ENST00000369280.1_Missense_Mutation_p.L1035F|TDRD1_ENST00000369281.2_Missense_Mutation_p.L921F	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1035	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AACCCTGCCTCTTTGCAGAGT	0.438000													11	28					0	0	0.000978159	0	0
IL1R1	3554	broad.mit.edu	37	2	102781300	102781300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:102781300C>T	ENST00000410023.1	+	4	446	c.128C>T	c.(127-129)cCc>cTc	p.P43L	IL1R1_ENST00000424272.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409589.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409288.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409929.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409329.1_Missense_Mutation_p.P43L|IL1R1_ENST00000233946.3_Missense_Mutation_p.P43L			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	43	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GATGTTCGTCCCTGTCCTCTT	0.368000													18	39					0	0	0.00188189	0	0
ALK	238	broad.mit.edu	37	2	29462669	29462669	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:29462669C>T	ENST00000389048.3	-	13	3138	c.2232G>A	c.(2230-2232)ggG>ggA	p.G744G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	744					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)	TCCCGCCTTTCCCGCCAGCAG	0.592000			"""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				10	28					0	0	0.000978159	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558458	106558458	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:106558458G>A	ENST00000526355.1	-	8	2484	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	GUCY1A2_ENST00000282249.2_Silent_p.F703F|GUCY1A2_ENST00000347596.2_Silent_p.F693F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	672					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GAATGAATGTGAAACTTTCTT	0.408000													34	43					0	0	0.00058488	0	0
DMBT1	1755	broad.mit.edu	37	10	124336154	124336154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:124336154G>A	ENST00000338354.3	+	7	629	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	DMBT1_ENST00000368956.2_Missense_Mutation_p.E175K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E175K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E175K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E175K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E175K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E175K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	175	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACACGAATCCTACCT	0.582000													32	42					0	0	0.000692331	0	0
KCNA6	3742	broad.mit.edu	37	12	4919936	4919936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:4919936G>A	ENST00000433855.1	+	1	1595	c.729G>A	c.(727-729)atG>atA	p.M243I	KCNA6_ENST00000280684.3_Missense_Mutation_p.M243I	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	243						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGGGAAATGGGGACCGGGG	0.547000										HNSCC(72;0.22)			27	51					0	0	0.00178596	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692797	23692797	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:23692797C>A	ENST00000397312.2	-	7	1112	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	ELAVL2_ENST00000544538.1_Missense_Mutation_p.V280L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V280L|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V267L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.V310L	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	280	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGGTTGTACACAAATATACAC	0.468000													25	35					2.79863e-10	1.09114e-09	0.000720815	1	0
RGS3	5998	broad.mit.edu	37	9	116269582	116269582	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:116269582G>A	ENST00000374140.2	+	14	1310	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	RGS3_ENST00000317613.6_Silent_p.E255E|RGS3_ENST00000394646.3_Silent_p.E86E|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000350696.5_Silent_p.E367E|RGS3_ENST00000343817.5_Silent_p.E86E	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	367	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCCCAGTGAGATCATCCTAC	0.627000													13	37					0	0	0.000308642	0	0
PAPOLA	10914	broad.mit.edu	37	14	97022680	97022680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:97022680C>T	ENST00000216277.8	+	19	2154	c.1934C>T	c.(1933-1935)cCt>cTt	p.P645L	PAPOLA_ENST00000392990.2_Missense_Mutation_p.P645L	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	645					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATACCTACTCCTATAGTAGGA	0.403000													38	49					0	0	0.00170553	0	0
GRM3	2913	broad.mit.edu	37	7	86416064	86416064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:86416064G>A	ENST00000361669.2	+	3	2055	c.956G>A	c.(955-957)gGc>gAc	p.G319D	GRM3_ENST00000394720.2_Missense_Mutation_p.G317D|GRM3_ENST00000439827.1_Missense_Mutation_p.G319D|GRM3_ENST00000536043.1_Missense_Mutation_p.G191D|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	319					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTGGCCTACGGCGCCATCACC	0.677000													12	20					0	0	0.00136819	0	0
PRX	57716	broad.mit.edu	37	19	40901188	40901188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:40901188G>A	ENST00000324001.7	-	7	3341	c.3071C>T	c.(3070-3072)cCc>cTc	p.P1024L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1024					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCAAACTTGGGGAGAGCAAA	0.642000													17	32					0	0	0.00121646	0	0
MYO1A	4640	broad.mit.edu	37	12	57437649	57437649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:57437649C>T	ENST00000442789.2	-	11	1170	c.883G>A	c.(883-885)Gat>Aat	p.D295N	MYO1A_ENST00000544473.1_Missense_Mutation_p.D133N|MYO1A_ENST00000300119.3_Missense_Mutation_p.D295N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	295	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTCTCCCATCACGGATGCCA	0.527000													10	29					0	0	0.000673444	0	0
STRN	6801	broad.mit.edu	37	2	37085021	37085021	+	Silent	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:37085021T>A	ENST00000263918.4	-	14	1823	c.1815A>T	c.(1813-1815)ctA>ctT	p.L605L	STRN_ENST00000379213.2_Silent_p.L556L	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	605					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TAAATACACTTAGTGCTGGAG	0.363000													10	30					0	0	0.00136819	0	0
HR	55806	broad.mit.edu	37	8	21978728	21978728	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:21978728G>A	ENST00000381418.4	-	10	3697	c.2217C>T	c.(2215-2217)tcC>tcT	p.S739S	HR_ENST00000312841.8_Silent_p.S739S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	739							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGTCTCAGCGGAATCGGGGG	0.642000													35	67					0	0	0.000953801	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912139	158912139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:158912139C>T	ENST00000368140.1	+	5	1197	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	PYHIN1_ENST00000392254.2_Missense_Mutation_p.H318Y|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.H309Y|PYHIN1_ENST00000368138.3_Missense_Mutation_p.H309Y	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	318	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAATATTCTTCACAAACAAAC	0.358000													13	34					0	0	0.00244969	0	0
IKZF1	10320	broad.mit.edu	37	7	50444268	50444268	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:50444268G>A	ENST00000331340.3	+	4	353	c.198G>A	c.(196-198)gaG>gaA	p.E66E	IKZF1_ENST00000357364.4_Silent_p.E66E|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.E66E|IKZF1_ENST00000359197.5_Silent_p.E66E|IKZF1_ENST00000440768.2_Silent_p.E66E|IKZF1_ENST00000349824.4_Silent_p.E66E	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)	66					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)				GTGATGAAGAGAATGGGCGTG	0.443000			"""D,T"""	BCL6	"""ALL, DLBCL"""								27	72					0	0	0.00106085	0	0
STYK1	55359	broad.mit.edu	37	12	10774522	10774522	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:10774522G>A	ENST00000075503.3	-	10	1537	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	339	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TCCTTCTTTGGAGATGCTCTA	0.428000										HNSCC(73;0.22)			47	72					0	0	0.000781405	0	0
ADAD1	132612	broad.mit.edu	37	4	123301320	123301320	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:123301320G>A	ENST00000296513.2	+	3	281	c.96G>A	c.(94-96)acG>acA	p.T32T	ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	32					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGACAAAGACGATAACTACAC	0.468000													21	43					0	0	0.00229938	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841513	36841513	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:36841513G>A	ENST00000279024.4	-	14	3805	c.3534C>T	c.(3532-3534)tcC>tcT	p.S1178S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1178										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCCCCTCTGAGGAGAAGCTGC	0.647000													14	28					0	0	0.000308642	0	0
DPPA3	359787	broad.mit.edu	37	12	7867918	7867918	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:7867918C>T	ENST00000345088.2	+	2	339	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	74						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCAGGGAAATCGAAGATGAGT	0.468000													13	21					0	0	0.00136819	0	0
FGFR4	2264	broad.mit.edu	37	5	176519753	176519753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176519753C>T	ENST00000292408.4	+	8	1270	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	FGFR4_ENST00000292410.3_Missense_Mutation_p.S342F|FGFR4_ENST00000393648.2_Missense_Mutation_p.S342F|FGFR4_ENST00000502906.1_Missense_Mutation_p.S342F|FGFR4_ENST00000393637.1_Missense_Mutation_p.S342F	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	342	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ATCGGCCTCTCCTACCAGTCT	0.637000										TSP Lung(9;0.080)			17	39					0	0	0.000422831	0	0
MRAP2	112609	broad.mit.edu	37	6	84799131	84799131	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:84799131G>A	ENST00000257776.4	+	4	684	c.549G>A	c.(547-549)ctG>ctA	p.L183L		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	183					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ATGATCTTCTGATTTCTGAAC	0.478000													25	46					0	0	0.000586117	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754405	140754405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140754405C>T	ENST00000517434.1	+	1	755	c.755C>T	c.(754-756)cCt>cTt	p.P252L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAGTGTTCCTGAAAACCTG	0.493000													10	23					0	0	0.00136819	0	0
TCP10L	140290	broad.mit.edu	37	21	33954638	33954638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:33954638G>A	ENST00000300258.3	-	3	345	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GCATCTATATGACTCCGGAGT	0.517000													23	69					0	0	0.000586117	0	0
BANK1	55024	broad.mit.edu	37	4	102751320	102751320	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:102751320A>G	ENST00000504592.1	+	6	799	c.381A>G	c.(379-381)gaA>gaG	p.E127E	BANK1_ENST00000444316.2_Silent_p.E112E|BANK1_ENST00000322953.4_Silent_p.E142E|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	142	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTGAACAGGAACCTGAAGACT	0.328000													16	45					0	0	0.000566183	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881398	111881398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:111881398C>T	ENST00000393256.3	+	2	349	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	BCL2L11_ENST00000393253.2_Missense_Mutation_p.P26S|BCL2L11_ENST00000405953.1_Missense_Mutation_p.P26S|BCL2L11_ENST00000308659.8_Missense_Mutation_p.P26S|BCL2L11_ENST00000337565.5_Missense_Mutation_p.P26S|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P26S	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	26					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GGAGAGGCCTCCCCAGCTCAG	0.542000													7	42					0	0	0.000274275	0	0
ANKRD27	84079	broad.mit.edu	37	19	33095330	33095330	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:33095330G>T	ENST00000306065.4	-	25	2652	c.2493_splice	c.e25-1	p.H832_splice		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	832					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGGCCCCGTGCTGGAAAGAG	0.478000													4	9					5.9392e-07	2.30794e-06	0.00116845	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147336289	147336289	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:147336289C>T	ENST00000361727.3	+	13	2505	c.1989C>T	c.(1987-1989)ctC>ctT	p.L663L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	663	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGACACAGCTCGTTTACAGCG	0.498000										HNSCC(39;0.1)			28	61					0	0	0.00106085	0	0
KANK4	163782	broad.mit.edu	37	1	62733963	62733963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:62733963C>T	ENST00000371153.4	-	5	2605	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	KANK4_ENST00000354381.3_Missense_Mutation_p.E115K|KANK4_ENST00000371150.1_Missense_Mutation_p.E99K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	743										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTCACCTCTCGGCCTTGGAG	0.562000													21	18					0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	9086952	9086952	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9086952G>A	ENST00000397910.4	-	1	5066	c.4863C>T	c.(4861-4863)ggC>ggT	p.G1621G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1621	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						TGTTTGTTGGGCCAGTCTCAA	0.512000													30	121					0	0	0.001512	0	0
VCAM1	7412	broad.mit.edu	37	1	101198024	101198024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:101198024G>A	ENST00000294728.2	+	7	1677	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	VCAM1_ENST00000370119.4_Missense_Mutation_p.E464K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E327K|VCAM1_ENST00000347652.2_Missense_Mutation_p.E434K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	526	Ig-like C2-type 6.				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)	CATCCTGGAGGAAGGCAGTTC	0.537000													35	55					0	0	0.00058488	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740672	140740672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140740672C>T	ENST00000522605.1	+	1	970	c.970C>T	c.(970-972)Cct>Tct	p.P324S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAAGATCCTGGAGATCT	0.393000													9	21					0	0	0.000673444	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145758632	145758632	+	Silent	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:145758632T>A	ENST00000276826.5	-	7	2874	c.2673A>T	c.(2671-2673)gcA>gcT	p.A891A	ARHGAP39_ENST00000377307.2_Silent_p.A922A|ARHGAP39_ENST00000540274.1_Silent_p.A891A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	891	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCTCCTGCAGTGCGCTGCCGA	0.647000													11	32					0	0	0.000978159	0	0
OR8H1	219469	broad.mit.edu	37	11	56057731	56057731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:56057731C>T	ENST00000313022.2	-	1	835	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCACTTGATCCCTTCCCAAA	0.338000													24	35					0	0	0.00278032	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48558162	48558162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:48558162G>A	ENST00000354276.3	-	15	1729	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S	PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P468S|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P468S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P478S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	468	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.P468T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTGAACAGGGGAAAATGCATC	0.517000													20	66					0	0	0.00278032	0	0
KRTDAP	388533	broad.mit.edu	37	19	35979706	35979706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:35979706C>T	ENST00000338897.3	-	2	212	c.124G>A	c.(124-126)Gag>Aag	p.E42K	KRTDAP_ENST00000484218.2_Missense_Mutation_p.E42K|KRTDAP_ENST00000479340.1_5'UTR	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	42					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGCTTACCTCGGGTCGTGAC	0.552000													21	32					0	0	0.00229938	0	0
PLA2G6	8398	broad.mit.edu	37	22	38508284	38508284	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:38508284T>A	ENST00000332509.3	-	17	2488	c.2305A>T	c.(2305-2307)Atg>Ttg	p.M769L	PLA2G6_ENST00000335539.3_Missense_Mutation_p.M715L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.M715L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	769					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TCATCCAGCATGATGTCCGTC	0.617000													5	12					0	0	0.000602214	0	0
CEP350	9857	broad.mit.edu	37	1	179989379	179989379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179989379C>T	ENST00000367607.3	+	12	2888	c.2470C>T	c.(2470-2472)Cgt>Tgt	p.R824C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	824						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAACTGGATCGTATTGAAGC	0.433000													66	142					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	8999534	8999534	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:8999534C>T	ENST00000397910.4	-	56	40844	c.40641G>A	c.(40639-40641)gtG>gtA	p.V13547V	MUC16_ENST00000380951.5_Silent_p.V188V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13549	SEA 10.			Missing (in Ref. 3; AAK74120).	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						AGATGGCATCCACTTTGGTGG	0.587000													12	33					0	0	0.00136819	0	0
AP5M1	55745	broad.mit.edu	37	14	57752955	57752955	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:57752955C>T	ENST00000261558.3	+	7	1714	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	AP5M1_ENST00000431972.2_Silent_p.I450I	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	436	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											ATTTTAGGATCTTAGATTACA	0.343000													49	55					0	0	0.000781405	0	0
IL17F	112744	broad.mit.edu	37	6	52103575	52103575	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:52103575G>A	ENST00000336123.4	-	2	314	c.207C>T	c.(205-207)tcC>tcT	p.S69S		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	69					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity	p.M70L(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TACGTGACATGGAAACGCGCT	0.443000													15	27					0	0	0.00244969	0	0
TAF2	6873	broad.mit.edu	37	8	120809338	120809338	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:120809338T>A	ENST00000378164.2	-	8	1281	c.983A>T	c.(982-984)aAt>aTt	p.N328I		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	328					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGTAAAAGATTTGTGCTGGA	0.328000													8	31					0	0	0.000157383	0	0
POM121	9883	broad.mit.edu	37	7	72413898	72413898	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:72413898C>T	ENST00000395270.1	+	14	3612	c.2571C>T	c.(2569-2571)acC>acT	p.T857T	POM121_ENST00000358357.3_Silent_p.T857T|POM121_ENST00000434423.2_Silent_p.T1122T|POM121_ENST00000446813.1_Silent_p.T857T|POM121_ENST00000257622.4_Silent_p.T857T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCTCCAGCACCACCACCGGAG	0.642000													8	10					0	0	0.000673444	0	0
SPAM1	6677	broad.mit.edu	37	7	123594221	123594221	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:123594221C>T	ENST00000340011.5	+	3	954	c.597C>T	c.(595-597)ttC>ttT	p.F199F	SPAM1_ENST00000223028.7_Silent_p.F199F|SPAM1_ENST00000460182.1_Silent_p.F199F|SPAM1_ENST00000439500.1_Silent_p.F199F|SPAM1_ENST00000402183.2_Silent_p.F199F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	199					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)	GGAAGGATTTCCTGGTAGAGA	0.383000													12	39					0	0	0.00185496	0	0
RCN1	5954	broad.mit.edu	37	11	32124946	32124946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:32124946C>T	ENST00000054950.3	+	5	1101	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	RCN1_ENST00000532942.1_Missense_Mutation_p.R219C|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	270	EF-hand 5.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AGATGAGATTCGCCACTGGAT	0.473000													30	60					0	0	0.0024448	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846809	47846809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47846809C>T	ENST00000339488.4	-	3	1804	c.1771G>A	c.(1771-1773)Gat>Aat	p.D591N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	591						integral to membrane	hedgehog receptor activity										AAGATGATATCATTTCGAAAA	0.423000													10	30					0	0	0.000673444	0	0
CSMD2	114784	broad.mit.edu	37	1	34498195	34498195	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:34498195C>T	ENST00000373381.4	-	3	693	c.517_splice	c.e3+1	p.V173_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	133	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGCACTTACCTTCATAGGTG	0.562000													8	5					0	0	0.000673444	0	0
IGLV11-55	28770	broad.mit.edu	37	22	22556510	22556510	+	RNA	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:22556510G>A	ENST00000390286.2	+	0	336																											TCCAGCCTGAGGACGAGGCCG	0.512000													24	52					0	0	0.001512	0	0
ODF2	4957	broad.mit.edu	37	9	131260759	131260759	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:131260759A>C	ENST00000303890.5	+	21	2593	c.2008A>C	c.(2008-2010)Atc>Ctc	p.I670L	ODF2_ENST00000372807.5_Missense_Mutation_p.I689L|ODF2_ENST00000444119.2_Missense_Mutation_p.I670L|ODF2_ENST00000372796.4_Missense_Mutation_p.I694L|ODF2_ENST00000351030.3_Missense_Mutation_p.I689L|ODF2_ENST00000434106.2_Missense_Mutation_p.I694L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	694					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						GGAGGAGGCAATCCACCAGTC	0.562000													20	62					0	0	0.000586117	0	0
ECE2	9718	broad.mit.edu	37	3	184008849	184008849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:184008849G>A	ENST00000402825.3	+	17	2210	c.2210G>A	c.(2209-2211)gGg>gAg	p.G737E	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.G590E|ECE2_ENST00000357474.5_Missense_Mutation_p.G665E|ECE2_ENST00000404464.3_Missense_Mutation_p.G619E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	737	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAAAGAAGGGAACCTGCGG	0.597000													13	56					0	0	0.00244969	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141525	5141525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:5141525G>A	ENST00000380554.3	+	5	1106	c.454G>A	c.(454-456)Gag>Aag	p.E152K	AKR1C3_ENST00000605149.1_Missense_Mutation_p.E129K|AKR1C3_ENST00000439082.2_Missense_Mutation_p.E33K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	152					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACAGGCCATGGAGAAGTGTAA	0.478000													23	46					0	0	0.00047179	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75167443	75167443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:75167443C>T	ENST00000395759.2	+	8	988	c.961C>T	c.(961-963)Cca>Tca	p.P321S	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.P263S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	263					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CTTTATCACTCCAGTTCCAGG	0.343000													21	41					0	0	0.00047179	0	0
ASB5	140458	broad.mit.edu	37	4	177142371	177142371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:177142371C>T	ENST00000296525.3	-	5	718	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ASB5_ENST00000512254.1_Missense_Mutation_p.G149E	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	202					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GAGAGGAGTTCCCAAATGAGG	0.403000													26	44					0	0	0.000720815	0	0
PLCH1	23007	broad.mit.edu	37	3	155303856	155303856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:155303856G>A	ENST00000460012.1	-	5	865	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q188*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q170*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q170*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.Q188*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.Q188*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	188	EF-hand 1.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTTACCTGAAACATTTGT	0.333000													27	73					0	0	0.00127121	0	0
COL21A1	81578	broad.mit.edu	37	6	55989070	55989070	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:55989070C>T	ENST00000244728.5	-	15	2068	c.1671G>A	c.(1669-1671)ggG>ggA	p.G557G	COL21A1_ENST00000370819.1_Silent_p.G554G|COL21A1_ENST00000535941.1_Silent_p.G557G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	557	Collagen-like 2.				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)			AGCCAGCATTCCCCTTTTCAC	0.353000													6	11					0	0	0.00198382	0	0
FAM46D	169966	broad.mit.edu	37	X	79698500	79698500	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:79698500G>A	ENST00000538312.1	+	5	796	c.462G>A	c.(460-462)ggG>ggA	p.G154G	FAM46D_ENST00000308293.5_Silent_p.G154G	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	154										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATAACACTGGGAAGAATTTAG	0.378000													28	22					0	0	0.00106085	0	0
RASA1	5921	broad.mit.edu	37	5	86658439	86658439	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:86658439G>C	ENST00000456692.2	+	10	988	c.873G>C	c.(871-873)aaG>aaC	p.K291N	RASA1_ENST00000506290.1_Missense_Mutation_p.K302N|RASA1_ENST00000274376.6_Missense_Mutation_p.K468N|RASA1_ENST00000512763.1_Missense_Mutation_p.K301N	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	468	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTAAAACAAAGGATGCCTTTT	0.299000													28	104					0	0	0.000720815	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004814	75004814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:75004814C>T	ENST00000373359.2	-	1	265	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	25										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTTGTATTTCACCTCTGCCG	0.577000													8	9					0	0	0.000274275	0	0
VEPH1	79674	broad.mit.edu	37	3	157177960	157177960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:157177960C>T	ENST00000494677.1	-	5	1061	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.R180Q|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	0						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GCTCAACTTTCGCACCATACC	0.403000													59	107					0	0	0.000781405	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:20295729G>A	ENST00000568211.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR4N2_ENST00000315947.1_Missense_Mutation_p.G41E			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000													34	84					0	0	0.00285205	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166324	140166324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140166324C>T	ENST00000504120.2	+	1	449	c.449C>T	c.(448-450)tCg>tTg	p.S150L	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S150L|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S150L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAATTCGCGTTTTCCG	0.443000													22	73					0	0	0.000878237	0	0
OR51G2	81282	broad.mit.edu	37	11	4936891	4936891	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:4936891C>T	ENST00000322013.3	-	1	31	c.3G>A	c.(1-3)atG>atA	p.M1I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCAGGGTCATTGTGTGAG	0.527000													14	21					0	0	0.00244969	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760879	6760879	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:6760879G>A	ENST00000245908.6	-	3	458	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	63	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGCCACACGGAACACCTCAA	0.622000													13	30					0	0	0.00185496	0	0
HK3	3101	broad.mit.edu	37	5	176308748	176308748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176308748G>A	ENST00000292432.5	-	17	2429	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	780	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGGCGCTGGATCTGCTGG	0.542000													30	89					0	0	0.00209593	0	0
OR2A25	392138	broad.mit.edu	37	7	143771348	143771348	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:143771348C>T	ENST00000408898.2	+	1	74	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CAGAGTTCCTCCTACTGGGAT	0.478000													35	52					0	0	0.000814825	0	0
ROCK1	6093	broad.mit.edu	37	18	18539836	18539836	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:18539836C>T	ENST00000399799.1	-	29	4417	c.3477G>A	c.(3475-3477)aaG>aaA	p.K1159K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1159	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGGATTGCTCCTTATCTTGTT	0.328000													9	32					0	0	0.000673444	0	0
ZAP70	7535	broad.mit.edu	37	2	98351917	98351917	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:98351917G>A	ENST00000264972.5	+	10	1502	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	ZAP70_ENST00000451498.2_Silent_p.K122K|ZAP70_ENST00000442208.1_Silent_p.K303K|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	429	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGGTCGGCAAGAGGTGAGCAC	0.697000													15	31					0	0	0.000422831	0	0
GLI2	2736	broad.mit.edu	37	2	121732662	121732662	+	Missense_Mutation	SNP	G	G	A	rs13427953		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:121732662G>A	ENST00000452319.1	+	9	1405	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.D121N|GLI2_ENST00000361492.4_Missense_Mutation_p.D449N			P10070	GLI2_HUMAN	GLI family zinc finger 2	449			D -> H (in dbSNP:rs13427953).		axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAAGGAGTACGACACCCAGGA	0.592000													7	34					0	0	0.000157383	0	0
NRSN1	140767	broad.mit.edu	37	6	24134690	24134690	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:24134690G>A	ENST00000378491.4	+	3	436	c.135G>A	c.(133-135)gaG>gaA	p.E45E	NRSN1_ENST00000378478.1_Silent_p.E45E|NRSN1_ENST00000378475.1_Silent_p.E45E	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	45					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGGAGTATGAGGATGATTTCC	0.473000													7	39					0	0	0.000157383	0	0
CNTN2	6900	broad.mit.edu	37	1	205034298	205034298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:205034298G>A	ENST00000331830.4	+	13	1887	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	535	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCTCCCACGACCCCACCAT	0.547000													42	76					0	0	0.00285205	0	0
OR10J3	441911	broad.mit.edu	37	1	159283490	159283490	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:159283490G>A	ENST00000332217.5	-	1	959	c.960C>T	c.(958-960)ggC>ggT	p.G320G		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CAAAGGAAAAGCCTTCACAAC	0.403000													35	69					0	0	0.000814825	0	0
PPIL2	23759	broad.mit.edu	37	22	22043086	22043086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:22043086C>T	ENST00000406385.1	+	15	1147	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	PPIL2_ENST00000412327.1_Missense_Mutation_p.R363C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R363C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R342C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R363C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R363C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	363	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GCACACGGGCCGCGGCATCCT	0.627000													31	60					0	0	0.000953801	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551638	1551638	+	Silent	SNP	C	C	T	rs138084629		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:1551638C>T	ENST00000381605.4	-	4	961	c.897G>A	c.(895-897)tcG>tcA	p.S299S	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	299	Ig-like C1-type 2.				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						CTATGAGGGTCGAAGCTGTTT	0.562000													22	37					0	0	0.000586117	0	0
ANGPT1	284	broad.mit.edu	37	8	108334231	108334231	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:108334231T>C	ENST00000520734.1	-	3	386	c.101A>G	c.(100-102)gAa>gGa	p.E34G	ANGPT1_ENST00000520052.1_Missense_Mutation_p.E34G			Q15389	ANGP1_HUMAN	angiopoietin 1	234					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TAATTGCTTTTCCAGCTCCTG	0.428000													36	65					0	0	0.000692331	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476758	110476758	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:110476758A>G	ENST00000378402.5	+	49	7801	c.7697A>G	c.(7696-7698)aAc>aGc	p.N2566S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2566					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)			TGGGTCACCAACCCGAACAAT	0.478000										HNSCC(38;0.096)			9	43					0	0	0.000442599	0	0
ACP2	53	broad.mit.edu	37	11	47270236	47270236	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:47270236G>A	ENST00000256997.3	-	1	221	c.105C>T	c.(103-105)ttC>ttT	p.F35F	ACP2_ENST00000529444.1_Silent_p.F35F|ACP2_ENST00000444355.2_Silent_p.F35F|ACP2_ENST00000529788.1_Silent_p.F35F|ACP2_ENST00000530453.1_Silent_p.F35F|ACP2_ENST00000537863.1_5'UTR|NR1H3_ENST00000529540.1_3'UTR|ACP2_ENST00000527256.1_Silent_p.F35F	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	35						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCAAGGTAACGAAGCGCAGAC	0.632000													5	14					0	0	0.00198382	0	0
DNAH5	1767	broad.mit.edu	37	5	13717512	13717512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13717512C>T	ENST00000265104.4	-	73	12721	c.12617G>A	c.(12616-12618)tGg>tAg	p.W4206*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4206	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGGATATTCCACCCCAGGGC	0.547000									Kartagener syndrome				7	21					0	0	0.00198382	0	0
RELN	5649	broad.mit.edu	37	7	103197532	103197532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:103197532C>T	ENST00000428762.1	-	38	5848	c.5689G>A	c.(5689-5691)Gaa>Aaa	p.E1897K	RELN_ENST00000424685.2_Missense_Mutation_p.E1897K|RELN_ENST00000343529.5_Missense_Mutation_p.E1897K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1897					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)		AAGTAAAATTCATCCATCAGG	0.408000													19	45					0	0	0.00152264	0	0
DOK3	79930	broad.mit.edu	37	5	176931106	176931106	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:176931106G>A	ENST00000501403.2	-	6	1550	c.1201C>T	c.(1201-1203)Ctg>Ttg	p.L401L	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.L457L			Q7L591	DOK3_HUMAN	docking protein 3	457	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCCAGCTCCAGCAGCCGCCGG	0.677000													6	13					0	0	0.00116845	0	0
ALPP	250	broad.mit.edu	37	2	233244537	233244537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:233244537C>T	ENST00000392027.2	+	5	817	c.548C>T	c.(547-549)gCc>gTc	p.A183V	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	183						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCACCTACGCCCACACGGTG	0.627000													9	14					0	0	0.000442599	0	0
ATAD5	79915	broad.mit.edu	37	17	29219749	29219749	+	Silent	SNP	C	C	T	rs144014973		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:29219749C>T	ENST00000321990.4	+	20	4761	c.4383C>T	c.(4381-4383)acC>acT	p.T1461T		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1461					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GTGCTGAGACCTTGTTTGGCC	0.333000													108	143					0	0	0.000781405	0	0
ENC1	8507	broad.mit.edu	37	5	73931665	73931665	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:73931665T>C	ENST00000302351.4	-	2	1776	c.646A>G	c.(646-648)Aac>Gac	p.N216D	ENC1_ENST00000537006.1_Missense_Mutation_p.N216D|ENC1_ENST00000510316.1_Missense_Mutation_p.N143D	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	216					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTGATCCAGTTAATTGCAGAC	0.498000													21	45					0	0	0.00152264	0	0
NLRC5	84166	broad.mit.edu	37	16	57060873	57060873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:57060873C>T	ENST00000436936.1	+	6	2243	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	NLRC5_ENST00000539144.1_Missense_Mutation_p.P673L|NLRC5_ENST00000262510.6_Missense_Mutation_p.P673L|NLRC5_ENST00000308149.7_Missense_Mutation_p.P673L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	673					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GATGGCTGTCCCCTGGAGCCC	0.597000													10	19					0	0	0.000978159	0	0
MYL4	4635	broad.mit.edu	37	17	45286862	45286862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:45286862C>T	ENST00000354968.1	+	2	202	c.74C>T	c.(73-75)cCa>cTa	p.P25L	MYL4_ENST00000393450.1_Missense_Mutation_p.P25L|MYL4_ENST00000572316.1_Missense_Mutation_p.P25L	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	25					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						gcccctgcaccagcccctgcc	0.587000													38	40					0	0	0.000814825	0	0
PTPN11	5781	broad.mit.edu	37	12	112891006	112891006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:112891006C>T	ENST00000351677.2	+	4	538	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	PTPN11_ENST00000392597.1_Missense_Mutation_p.H114Y	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	114	SH2 2.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TAGGTGGTTTCATGGACATCT	0.358000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				25	78					0	0	0.000878237	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178699945	178699945	+	Missense_Mutation	SNP	G	G	A	rs146217716		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:178699945G>A	ENST00000251582.7	-	3	756	c.655C>T	c.(655-657)Cct>Tct	p.P219S	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.P219S	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	219					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P219S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGAGAGGAGGGGACGTGGGT	0.672000													11	24					0	0	0.000978159	0	0
SLC22A16	85413	broad.mit.edu	37	6	110778126	110778126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:110778126G>A	ENST00000368919.3	-	2	214	c.148C>T	c.(148-150)Cat>Tat	p.H50Y	SLC22A16_ENST00000439654.1_Missense_Mutation_p.H50Y|SLC22A16_ENST00000456137.2_Missense_Mutation_p.H50Y|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.H48Y	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	50					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTGCAGACATGATGAGGGGTG	0.488000													20	44					0	0	0.000958276	0	0
MYH14	79784	broad.mit.edu	37	19	50795520	50795520	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:50795520C>T	ENST00000440075.2	+	37	5177	c.5130C>T	c.(5128-5130)gcC>gcT	p.A1710A	MYH14_ENST00000596571.1_Silent_p.A1669A|MYH14_ENST00000598205.1_Silent_p.A1677A|MYH14_ENST00000601313.1_Silent_p.A1710A|MYH14_ENST00000425460.1_Silent_p.A1677A|MYH14_ENST00000376970.2_Silent_p.A1702A|MYH14_ENST00000262269.8_Silent_p.A1710A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1669					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCACCCAGGCCCAGATGAAGG	0.632000													7	3					0	0	0.000274275	0	0
RAVER2	55225	broad.mit.edu	37	1	65296648	65296648	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:65296648A>T	ENST00000294428.3	+	12	2134	c.2056A>T	c.(2056-2058)Aaa>Taa	p.K686*	RAVER2_ENST00000371072.4_Nonsense_Mutation_p.K673*|RAVER2_ENST00000430964.2_Nonsense_Mutation_p.K225*			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	686						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AACTTACTTAAAAAAGAAGCG	0.438000													69	69					0	0	0.000781405	0	0
LHCGR	3973	broad.mit.edu	37	2	48914995	48914995	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:48914995C>T	ENST00000294954.7	-	11	1962	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R	LHCGR_ENST00000344775.3_Silent_p.R585R|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Silent_p.R620R|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	647					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGTTCAGCCCGACGTTTAC	0.383000													27	88					0	0	0.00106085	0	0
LINGO1	84894	broad.mit.edu	37	15	77906604	77906604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:77906604G>A	ENST00000355300.6	-	2	1819	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	LINGO1_ENST00000561030.1_Missense_Mutation_p.P543S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	549					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGGGGAAAGGCACAGTGGCG	0.607000													50	24					0	0	0.000781405	0	0
ABCA4	24	broad.mit.edu	37	1	94526287	94526287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:94526287G>A	ENST00000370225.3	-	14	2052	c.1966C>T	c.(1966-1968)Cct>Tct	p.P656S	ABCA4_ENST00000535735.1_Missense_Mutation_p.P656S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	656					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATGAAGATAGGGAAACAGCGG	0.443000													15	17					0	0	0.00244969	0	0
CNTN1	1272	broad.mit.edu	37	12	41323782	41323782	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:41323782C>T	ENST00000551295.2	+	7	798	c.681C>T	c.(679-681)atC>atT	p.I227I	CNTN1_ENST00000348761.2_Silent_p.I216I|CNTN1_ENST00000547849.1_Silent_p.I227I|CNTN1_ENST00000547702.1_Silent_p.I227I|CNTN1_ENST00000347616.1_Silent_p.I227I|CNTN1_ENST00000360099.3_Silent_p.I227I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	227					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.I227I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCAAATTCATCCCACTCATTC	0.363000													48	97					0	0	0.000781405	0	0
CATSPERB	79820	broad.mit.edu	37	14	92171042	92171042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr14:92171042G>A	ENST00000256343.3	-	7	626	c.470C>T	c.(469-471)cCg>cTg	p.P157L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	157					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P157L(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTGAAGAATCGGTTCTGTGGA	0.388000													16	38					0	0	0.000308642	0	0
CRY2	1408	broad.mit.edu	37	11	45868999	45868999	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:45868999C>T	ENST00000443527.2	+	1	43	c.21C>T	c.(19-21)gcC>gcT	p.A7A	CRY2_ENST00000417225.2_Intron	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCCACGTCGCCTACCGGGGCG	0.736000													7	8					0	0	0.000274275	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760570	92760570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:92760570G>A	ENST00000318238.4	-	5	5931	c.4715C>T	c.(4714-4716)tCc>tTc	p.S1572F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1572F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1572F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1572										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCTTCAATGGAAAATCCTAG	0.328000													15	40					0	0	0.000566183	0	0
TTC21A	199223	broad.mit.edu	37	3	39171798	39171798	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:39171798C>T	ENST00000301819.6	+	17	2469	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	TTC21A_ENST00000440121.1_Silent_p.S715S|TTC21A_ENST00000431162.2_Silent_p.S763S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	763							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGACGCCTCCCTGGCCAGCA	0.597000													9	8					0	0	0.000978159	0	0
SLC6A15	55117	broad.mit.edu	37	12	85277534	85277534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:85277534G>A	ENST00000450363.3	-	5	1318	c.860C>T	c.(859-861)aCt>aTt	p.T287I	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Intron|SLC6A15_ENST00000552192.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	0					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTAGAATGAAGTGTTATGTGT	0.328000													11	40					0	0	0.000422831	0	0
TRPC4	7223	broad.mit.edu	37	13	38357408	38357408	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:38357408C>T	ENST00000379705.3	-	2	920	c.63G>A	c.(61-63)agG>agA	p.R21R	TRPC4_ENST00000358477.2_Silent_p.R21R|TRPC4_ENST00000447043.1_Silent_p.R21R|TRPC4_ENST00000355779.2_Silent_p.R21R|TRPC4_ENST00000379679.1_Silent_p.R21R|TRPC4_ENST00000426868.2_Silent_p.R21R|TRPC4_ENST00000379681.3_Silent_p.R21R|TRPC4_ENST00000338947.5_Silent_p.R21R|TRPC4_ENST00000379673.2_Silent_p.R21R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	21					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCTTACTATCCTTAGAGGGA	0.418000													39	87					0	0	0.00128727	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055779	6055779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:6055779C>T	ENST00000409021.3	-	13	2253	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E602K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E417K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E602K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E437K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	602	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCTTACTTCGAGTTCTAGC	0.403000													50	113					0	0	0.000781405	0	0
LPIN1	23175	broad.mit.edu	37	2	11922484	11922484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:11922484C>T	ENST00000256720.2	+	7	1100	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	LPIN1_ENST00000425416.2_Missense_Mutation_p.P342L|LPIN1_ENST00000449576.2_Missense_Mutation_p.P421L|LPIN1_ENST00000396097.1_Missense_Mutation_p.P66L|LPIN1_ENST00000396098.1_Missense_Mutation_p.P378L|LPIN1_ENST00000396099.1_Missense_Mutation_p.P378L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	336					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CAGAACAAGCCTCAGACAGAA	0.512000													13	36					0	0	0.00136819	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997752	72997752	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:72997752C>T	ENST00000322038.5	+	2	839	c.255C>T	c.(253-255)tcC>tcT	p.S85S	TSHZ1_ENST00000580243.1_Silent_p.S130S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	130	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCTGCTGGTCCAGCTTAGCTC	0.602000													8	31					0	0	0.000157383	0	0
FSTL1	11167	broad.mit.edu	37	3	120134855	120134855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:120134855G>A	ENST00000295633.3	-	3	439	c.83C>T	c.(82-84)tCc>tTc	p.S28F	FSTL1_ENST00000424703.2_Intron	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	28					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ACAGATCTTGGATTTGCTCCT	0.453000													49	97					0	0	0.000781405	0	0
NDST4	64579	broad.mit.edu	37	4	115997498	115997498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:115997498G>A	ENST00000264363.2	-	2	1373	c.695C>T	c.(694-696)cCt>cTt	p.P232L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	232	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAAAAGTACAGGCTGGTAGGT	0.443000													17	58					0	0	0.00121646	0	0
PTPRU	10076	broad.mit.edu	37	1	29642641	29642641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:29642641C>T	ENST00000373779.3	+	24	3620	c.3491C>T	c.(3490-3492)tCc>tTc	p.S1164F	PTPRU_ENST00000323874.8_Missense_Mutation_p.S1170F|PTPRU_ENST00000428026.2_Missense_Mutation_p.S1161F|PTPRU_ENST00000460170.2_Missense_Mutation_p.S1170F|PTPRU_ENST00000345512.3_Missense_Mutation_p.S1174F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S1170F	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1174					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)		AGTAATTCCTCCCAGCTGCGG	0.547000													7	33					0	0	0.000157383	0	0
COLEC10	10584	broad.mit.edu	37	8	120116118	120116118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:120116118G>A	ENST00000332843.2	+	5	467	c.426G>A	c.(424-426)atG>atA	p.M142I		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	142						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AGACATCTATGAAGTTTGTCA	0.353000													17	49					0	0	0.000566183	0	0
GRM3	2913	broad.mit.edu	37	7	86394765	86394765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:86394765G>A	ENST00000361669.2	+	2	1403	c.304G>A	c.(304-306)Gat>Aat	p.D102N	GRM3_ENST00000394720.2_Missense_Mutation_p.D100N|GRM3_ENST00000439827.1_Missense_Mutation_p.D102N|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	102					synaptic transmission	integral to plasma membrane		p.D102N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGTTCAAGGGATACCTATGC	0.418000													44	105					0	0	0.000781405	0	0
PAK7	57144	broad.mit.edu	37	20	9543585	9543585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:9543585C>T	ENST00000378429.3	-	7	2115	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	PAK7_ENST00000378423.1_Missense_Mutation_p.M523I|PAK7_ENST00000353224.5_Missense_Mutation_p.M523I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	523	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTAGAAACTCCATGACCACCC	0.498000													37	81					0	0	0.00170553	0	0
KRT6C	286887	broad.mit.edu	37	12	52864331	52864331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:52864331C>T	ENST00000252250.6	-	6	1208	c.1161G>A	c.(1159-1161)atG>atA	p.M387I		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	387	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCCTCTGGATCATGCGGTTGA	0.547000													29	79					0	0	0.00127121	0	0
GRIK3	2899	broad.mit.edu	37	1	37307518	37307518	+	Missense_Mutation	SNP	C	C	T	rs115314874	by1000genomes	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:37307518C>T	ENST00000373091.3	-	10	1365	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	GRIK3_ENST00000373093.4_Missense_Mutation_p.R450Q	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	450					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTCTGATTTCCGAAACATGAC	0.572000													61	80					0	0	0.000781405	0	0
AOC2	314	broad.mit.edu	37	17	40997478	40997478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:40997478C>T	ENST00000253799.3	+	1	862	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	AOC2_ENST00000452774.2_Missense_Mutation_p.R279W	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	279					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TAAGTCTGGCCGGTTGGAAGT	0.577000													34	51					0	0	0.00283554	0	0
SGCZ	137868	broad.mit.edu	37	8	13959988	13959988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:13959988G>A	ENST00000382080.1	-	7	1356	c.641C>T	c.(640-642)tCc>tTc	p.S214F	SGCZ_ENST00000421524.2_Missense_Mutation_p.S167F	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	201					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CATGATCAAGGATCTGGTGGG	0.413000													8	24					0	0	0.000157383	0	0
EYA4	2070	broad.mit.edu	37	6	133827288	133827288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:133827288G>A	ENST00000367895.5	+	14	1700	c.1236G>A	c.(1234-1236)atG>atA	p.M412I	EYA4_ENST00000525849.1_Missense_Mutation_p.M389I|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.M418I|EYA4_ENST00000355167.3_Missense_Mutation_p.M412I|EYA4_ENST00000431403.2_Missense_Mutation_p.M412I|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Missense_Mutation_p.M364I|EYA4_ENST00000452339.2_Missense_Mutation_p.M358I|EYA4_ENST00000355286.6_Missense_Mutation_p.M389I	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	412					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)		TGGAAGAAATGATTTTTAATC	0.353000													17	58					0	0	0.00121646	0	0
LDLR	3949	broad.mit.edu	37	19	11240220	11240220	+	Missense_Mutation	SNP	C	C	T	rs139647768		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:11240220C>T	ENST00000557933.1	+	17	2570	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	LDLR_ENST00000455727.2_Silent_p.F639F|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000545707.1_Silent_p.F629F|LDLR_ENST00000558013.1_Silent_p.F807F|LDLR_ENST00000558518.1_Silent_p.F807F|LDLR_ENST00000535915.1_Silent_p.F766F			P01130	LDLR_HUMAN	low density lipoprotein receptor	539	Required for MYLIP-triggered down- regulation of LDLR.		Y -> C (in FH; J.D.Bari/Syria; dbSNP:rs28942085).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.F807F(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGGGGTCTTCCTTCTATGGA	0.552000													69	218					0	0	0.000781405	0	0
RNF157	114804	broad.mit.edu	37	17	74151703	74151703	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:74151703C>T	ENST00000269391.6	-	15	1770	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	RNF157_ENST00000319945.6_Silent_p.E546E	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	546							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTCTCCCTCCTCTTCAGTGC	0.617000													7	29					0	0	0.000157383	0	0
MERTK	10461	broad.mit.edu	37	2	112705122	112705122	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:112705122C>T	ENST00000295408.4	+	4	992	c.735C>T	c.(733-735)tcC>tcT	p.S245S	MERTK_ENST00000409780.1_Silent_p.S69S|MERTK_ENST00000421804.2_Silent_p.S245S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	245	Ig-like C2-type 2.				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						CTGAAAAATCCCCCTCCGTGC	0.512000													13	43					0	0	0.00244969	0	0
AURKC	6795	broad.mit.edu	37	19	57743539	57743539	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:57743539G>A	ENST00000302804.7	+	3	429	c.243G>A	c.(241-243)aaG>aaA	p.K81K	AURKC_ENST00000448930.1_Silent_p.K47K|AURKC_ENST00000415300.2_Silent_p.K62K|AURKC_ENST00000599062.1_Silent_p.K78K|AURKC_ENST00000598785.1_Silent_p.K47K	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	81	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGATAGAGAAGGAAGGACTGG	0.522000													11	32					0	0	0.000978159	0	0
POM121L12	285877	broad.mit.edu	37	7	53104076	53104076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:53104076C>T	ENST00000408890.4	+	1	728	c.712C>T	c.(712-714)Ccg>Tcg	p.P238S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCTCTGAAGCCGAGCCTCGG	0.657000													13	26					0	0	0.00185496	0	0
CDC25A	993	broad.mit.edu	37	3	48219374	48219374	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:48219374G>A	ENST00000302506.3	-	7	1062	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CDC25A_ENST00000351231.3_Silent_p.F178F	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	218					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.F218F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAAGGTCCACGAAGCCATCAT	0.448000													67	75					0	0	0.000781405	0	0
RARB	5915	broad.mit.edu	37	3	25611335	25611335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:25611335G>A	ENST00000330688.4	+	4	956	c.535G>A	c.(535-537)Gat>Aat	p.D179N	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.D67N|RARB_ENST00000437042.2_Missense_Mutation_p.D67N|RARB_ENST00000404969.1_Missense_Mutation_p.D186N	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	186	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGAGTTGGACGATCTCACAGA	0.483000													17	23					0	0	0.00074312	0	0
VAMP4	8674	broad.mit.edu	37	1	171678874	171678874	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:171678874C>T	ENST00000236192.7	-	6	662	c.276G>A	c.(274-276)tcG>tcA	p.S92S	VAMP4_ENST00000367740.2_Silent_p.S91S|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000415773.1_Silent_p.S91S	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	92	v-SNARE coiled-coil homology.				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTGCATTATCCGATAAGCTTT	0.363000													23	69					0	0	0.000878237	0	0
BRDT	676	broad.mit.edu	37	1	92442946	92442946	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:92442946T>A	ENST00000370389.2	+	6	1670	c.746T>A	c.(745-747)aTt>aAt	p.I249N	BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000362005.3_Missense_Mutation_p.I322N|BRDT_ENST00000399546.2_Missense_Mutation_p.I322N|BRDT_ENST00000402388.1_Missense_Mutation_p.I322N|BRDT_ENST00000394530.3_Missense_Mutation_p.I276N	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTGGAACTATTAAGGTAAAT	0.318000													36	52					0	0	0.000692331	0	0
TFPI	7035	broad.mit.edu	37	2	188361745	188361745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:188361745C>T	ENST00000233156.3	-	3	476	c.182G>A	c.(181-183)gGc>gAc	p.G61D	TFPI_ENST00000339091.4_Missense_Mutation_p.G61D|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.G61D|TFPI_ENST00000392365.1_Missense_Mutation_p.G61D|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	61	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTTACATGGGCCATCATCCGC	0.343000													14	41					0	0	0.00185496	0	0
CUL4A	8451	broad.mit.edu	37	13	113899312	113899312	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr13:113899312C>T	ENST00000451881.1	+	13	1332	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	CUL4A_ENST00000326335.4_Silent_p.L361L|CUL4A_ENST00000375441.3_Silent_p.L361L|CUL4A_ENST00000375440.4_Silent_p.L461L	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	461					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CAAAAAGACTCCTTGTTGGGA	0.403000													23	39					0	0	0.000878237	0	0
LST3	0	broad.mit.edu	37	12	21196326	21196326	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:21196326C>T	ENST00000381541.3	+	7	851	c.786C>T	c.(784-786)ttC>ttT	p.F262F	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.F262F|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.F215F																							GGCTTGGTTTCCTTGTGTCTG	0.353000													36	101					0	0	0.000692331	0	0
C1orf106	55765	broad.mit.edu	37	1	200878057	200878057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:200878057G>A	ENST00000367342.4	+	7	1229	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	C1orf106_ENST00000413687.2_Nonsense_Mutation_p.W258*	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	343	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGAGCCCTGGAGCGAGTCCA	0.632000													8	14					0	0	0.000157383	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353099	33353099	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:33353099G>C	ENST00000023064.4	-	6	820	c.629C>G	c.(628-630)tCt>tGt	p.S210C	SLC7A9_ENST00000587772.1_Missense_Mutation_p.S210C|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S210C	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	210					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCCTCGAAAGAATTATCAAA	0.527000													23	54					0	0	0.00188189	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407894	148407894	+	Silent	SNP	G	G	A	rs150950962	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:148407894G>A	ENST00000538184.1	-	7	930	c.42C>T	c.(40-42)ttC>ttT	p.F14F	SH3TC2_ENST00000512049.1_Silent_p.F460F|SH3TC2_ENST00000394358.2_Silent_p.F352F|SH3TC2_ENST00000515425.1_Silent_p.F467F			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	467							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATGGGGGCGAAGTTCTCAG	0.507000													38	69					0	0	0.000953801	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336469	30336469	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:30336469C>T	ENST00000375377.1	-	2	374	c.273G>A	c.(271-273)tcG>tcA	p.S91S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	91										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCCCGCCTCCGAGGTTCTGG	0.552000													13	31					0	0	0.000308642	0	0
OR13C8	138802	broad.mit.edu	37	9	107331514	107331514	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:107331514G>A	ENST00000335040.1	+	1	66	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCCACCCAAAGCTCCAGACAG	0.428000													47	129					0	0	0.000781405	0	0
OGDHL	55753	broad.mit.edu	37	10	50959906	50959906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:50959906C>T	ENST00000374103.4	-	6	801	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.R30Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.R182Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	239					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						CAGCAGGGTCCGCTTCTCCTC	0.612000													29	35					0	0	0.00127121	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214325	140214325	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140214325G>A	ENST00000525929.1	+	1	357	c.357G>A	c.(355-357)gtG>gtA	p.V119V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V119V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCATGTGGACGTGGAGG	0.587000													43	170					0	0	0.000781405	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536321	108536321	+	Missense_Mutation	SNP	C	C	T	rs140344242		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:108536321C>T	ENST00000374688.1	+	6	1384	c.674C>T	c.(673-675)tCa>tTa	p.S225L	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S279L			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	279						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GATGTTGCCTCAGATAATGTT	0.388000													33	44					0	0	0.000692331	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:70064197C>T	ENST00000370598.1	+	27	4353	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_ENST00000238918.8_Missense_Mutation_p.P384S|BAI3_ENST00000546190.1_Missense_Mutation_p.P142S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1178					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTTCGTTTCCTAATGGGCA	0.383000													39	94					0	0	0.00222228	0	0
WDR72	256764	broad.mit.edu	37	15	53998203	53998203	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:53998203G>A	ENST00000396328.1	-	10	1262	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	WDR72_ENST00000557913.1_Silent_p.F338F|WDR72_ENST00000360509.5_Silent_p.F341F|WDR72_ENST00000559418.1_Silent_p.F351F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	341								p.F341L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCTCCAGAGAAAAGTACCT	0.398000													24	18					0	0	0.00278032	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261062	21261062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:21261062G>A	ENST00000311620.5	+	2	248	c.175G>A	c.(175-177)Gat>Aat	p.D59N		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	59										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGGGGACCCTGATAGGTGTGA	0.428000													23	41					0	0	0.000878237	0	0
ACP1	52	broad.mit.edu	37	2	272128	272128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:272128C>T	ENST00000272065.5	+	3	302	c.209C>T	c.(208-210)cCc>cTc	p.P70L	ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000272067.6_Intron|ACP1_ENST00000407983.3_Missense_Mutation_p.P70L|ACP1_ENST00000484464.1_3'UTR	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	70						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CACGGCATTCCCATGAGCCAC	0.577000													20	38					0	0	0.00229938	0	0
FCRL5	83416	broad.mit.edu	37	1	157514669	157514669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:157514669C>T	ENST00000361835.3	-	4	668	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	FCRL5_ENST00000368189.3_Missense_Mutation_p.E171K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E86K|FCRL5_ENST00000356953.4_Missense_Mutation_p.E171K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E171K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	171						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAACAACTTTCCTTATATCCA	0.393000													54	83					0	0	0.000781405	0	0
NPR1	4881	broad.mit.edu	37	1	153655028	153655028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:153655028C>T	ENST00000368680.3	+	5	1698	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	409					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACAGACTTCTCCCTCTGGGAT	0.488000													8	17					0	0	0.000442599	0	0
PPL	5493	broad.mit.edu	37	16	4945319	4945319	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:4945319C>T	ENST00000345988.2	-	11	1274	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	PPL_ENST00000590782.2_Silent_p.R393R	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	395					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGGAGTCTCCCGGCGGTACT	0.607000													12	25					0	0	0.000308642	0	0
MYH8	4626	broad.mit.edu	37	17	10303854	10303854	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:10303854C>T	ENST00000403437.2	-	27	3682	c.3588G>A	c.(3586-3588)cgG>cgA	p.R1196R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1196					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTGCTTCTTCCGAAGAGCAG	0.547000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				21	32					0	0	0.00152264	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178397	140178397	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:140178397C>T	ENST00000458420.3	+	7	1198	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	336					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTTGCCATCCCCTAGCGCTG	0.557000										HNSCC(16;0.037)			19	51					0	0	0.00152264	0	0
OR2W1	26692	broad.mit.edu	37	6	29012694	29012694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:29012694C>T	ENST00000377175.1	-	1	323	c.259G>A	c.(259-261)Gga>Aga	p.G87R		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G87*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TTATCAGGTCCCCACAAGTTG	0.438000													7	53					0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13864741	13864741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:13864741C>T	ENST00000265104.4	-	28	4465	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1454	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGAAGCTTTCGACATCTGTG	0.468000									Kartagener syndrome				25	48					0	0	0.00127121	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137752	32137752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:32137752C>T	ENST00000312561.4	+	4	4277	c.3863C>T	c.(3862-3864)cCc>cTc	p.P1288L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAACTAAATCCCTTGCAAAAT	0.343000													7	30					0	0	0.00198382	0	0
RAB35	11021	broad.mit.edu	37	12	120536844	120536844	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:120536844G>A	ENST00000229340.5	-	4	530	c.342C>T	c.(340-342)tgC>tgT	p.C114C	RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Silent_p.C114C	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	114					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTAATATTCGGCACACATCAT	0.597000													16	29					0	0	0.000566183	0	0
BTBD9	114781	broad.mit.edu	37	6	38256186	38256186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:38256186C>T	ENST00000481247.1	-	8	1467	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	BTBD9_ENST00000314100.6_Missense_Mutation_p.G371E|BTBD9_ENST00000403056.1_Missense_Mutation_p.G439E|BTBD9_ENST00000419706.2_Missense_Mutation_p.G409E|BTBD9_ENST00000408958.1_Missense_Mutation_p.G371E	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	439					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CCGACTGACTCCTTCAATCAC	0.453000													20	55					0	0	0.00278032	0	0
UBE3A	7337	broad.mit.edu	37	15	25585360	25585360	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:25585360G>A	ENST00000232165.3	-	12	3026	c.2370C>T	c.(2368-2370)atC>atT	p.I790I	UBE3A_ENST00000566215.1_Silent_p.I770I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Silent_p.I770I|UBE3A_ENST00000428984.2_Silent_p.I770I|UBE3A_ENST00000397954.2_Silent_p.I793I	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	793	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATGAATGAACGATTTCCCAGA	0.363000													20	24					0	0	0.00188189	0	0
SNHG14	104472715	broad.mit.edu	37	15	25307561	25307561	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:25307561C>T	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA																							TCGTTCTCATCAGAACTGAGG	0.512000													34	47					0	0	0.00128727	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554011	140554011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140554011G>A	ENST00000231137.3	+	1	1769	c.1595G>A	c.(1594-1596)gGc>gAc	p.G532D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCGCGTGGGCGCCACAGAC	0.697000													21	41					0	0	0.00188189	0	0
PPBP	5473	broad.mit.edu	37	4	74853053	74853053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:74853053G>A	ENST00000296028.3	-	3	416	c.323C>T	c.(322-324)cCa>cTa	p.P108L		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	108					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGGAGCATCTGGGTCCAGGCA	0.423000													25	53					0	0	0.000878237	0	0
FOLH1	2346	broad.mit.edu	37	11	49175467	49175467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:49175467G>A	ENST00000340334.7	-	18	2224	c.1856C>T	c.(1855-1857)tCt>tTt	p.S619F	FOLH1_ENST00000256999.2_Missense_Mutation_p.S634F|FOLH1_ENST00000356696.3_Missense_Mutation_p.S634F|FOLH1_ENST00000343844.4_Missense_Mutation_p.S326F|FOLH1_ENST00000533034.1_Missense_Mutation_p.S619F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	634					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTTTACTGCAGAAAAAAGTGA	0.328000													16	47					0	0	0.000566183	0	0
SUSD4	55061	broad.mit.edu	37	1	223465812	223465812	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:223465812G>A	ENST00000343846.3	-	2	963	c.330C>T	c.(328-330)atC>atT	p.I110I	SUSD4_ENST00000366878.4_Silent_p.I110I|SUSD4_ENST00000344029.6_Silent_p.I110I|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	110	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TATCACTTGGGATCCAGCCTA	0.498000													32	101					0	0	0.000814825	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	RNA	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:142045754C>T	ENST00000390392.3	+	0	393																											CTCACTTATTCCTTCACCTAC	0.502000													63	105					0	0	0.000781405	0	0
LILRB4	11006	broad.mit.edu	37	19	55175813	55175813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55175813G>A	ENST00000391736.1	+	6	847	c.532G>A	c.(532-534)Gct>Act	p.A178T	LILRB4_ENST00000270452.2_Missense_Mutation_p.A178T|LILRB4_ENST00000391733.3_Missense_Mutation_p.A178T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A178T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A178T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	178	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GCAGCACCAGGCTGAATTCCC	0.587000													22	36					0	0	0.000720815	0	0
F13A1	2162	broad.mit.edu	37	6	6305667	6305667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:6305667C>T	ENST00000264870.3	-	3	501	c.236G>A	c.(235-237)aGa>aAa	p.R79K		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	79					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGACTGCCCTCTGCGGACAAT	0.483000													18	46					0	0	0.00074312	0	0
SORBS1	10580	broad.mit.edu	37	10	97097047	97097047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:97097047G>A	ENST00000371247.2	-	30	3059	c.2870C>T	c.(2869-2871)tCc>tTc	p.S957F	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S911F|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S957F|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	957					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCTGTGACTGGAAAACTTaaa	0.478000													7	4					0	0	0.000157383	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112778290	112778290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:112778290G>A	ENST00000374530.3	+	7	733	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	AKAP2_ENST00000510514.5_Missense_Mutation_p.E185K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E185K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E185K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAACGCCACAGAAACATCCGG	0.473000													29	47					0	0	0.000692331	0	0
SZT2	23334	broad.mit.edu	37	1	43909142	43909142	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:43909142C>T	ENST00000562955.1	+	60	8448	c.8448C>T	c.(8446-8448)gaC>gaT	p.D2816D	SZT2_ENST00000372442.1_Silent_p.D1974D	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2873						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCCCCTGACGGGCAGGTAA	0.612000													16	17					0	0	0.000958276	0	0
VPS16	64601	broad.mit.edu	37	20	2843460	2843460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:2843460C>T	ENST00000380445.3	+	13	1283	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.S90F|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	404					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAGGCCGCCTCCTTCGGAAAG	0.632000													46	84					0	0	0.000781405	0	0
ABCF3	55324	broad.mit.edu	37	3	183910650	183910650	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:183910650C>T	ENST00000429586.2	+	18	1901	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.V566V	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	572	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCTAAACGTCAGTGCTGTGG	0.542000													7	49					0	0	0.000157383	0	0
LILRA2	11027	broad.mit.edu	37	19	55087437	55087437	+	Silent	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:55087437A>G	ENST00000251377.3	+	7	1249	c.1116A>G	c.(1114-1116)caA>caG	p.Q372Q	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.Q372Q|LILRA2_ENST00000391737.1_Silent_p.Q360Q|LILRA2_ENST00000251376.3_Silent_p.Q372Q|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGAGCACCAAGCTCAGCAGA	0.597000													12	39					0	0	0.00185496	0	0
KCNC1	3746	broad.mit.edu	37	11	17794027	17794027	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr11:17794027G>A	ENST00000379472.3	+	2	1416	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R	KCNC1_ENST00000265969.6_Silent_p.R462R	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	462						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATATTCCGCGGCCACCGCAGC	0.478000													18	48					0	0	0.000566183	0	0
DNAH9	1770	broad.mit.edu	37	17	11666863	11666863	+	Missense_Mutation	SNP	G	G	A	rs140313224		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:11666863G>A	ENST00000262442.3	+	36	7170	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2368K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2368					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2368K(1)		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)		CTGCCCTAAGGAAATTTATGA	0.493000													19	34					0	0	0.00121646	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018662	161018662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:161018662C>T	ENST00000368013.3	-	12	2469	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E540K|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	717	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GACTTCTCTTCCTTGGCCTCT	0.502000													77	140					0	0	0.000781405	0	0
ITIH2	3698	broad.mit.edu	37	10	7763687	7763687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:7763687G>A	ENST00000358415.4	+	8	980	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E261K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	272					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGTAGATGGGGAACTGGTGGT	0.552000													31	76					0	0	0.00148497	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954982	12954982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:12954982G>A	ENST00000235347.4	-	3	380	c.301C>T	c.(301-303)Caa>Taa	p.Q101*		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	101										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCACTTGAAGTTTCCAC	0.527000													47	37					0	0	0.000781405	0	0
DAPK2	23604	broad.mit.edu	37	15	64222634	64222634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:64222634C>T	ENST00000261891.3	-	5	609	c.604G>A	c.(604-606)Gag>Aag	p.E202K	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.E202K|DAPK2_ENST00000558069.1_Missense_Mutation_p.E202K|RP11-111E14.1_ENST00000558050.1_RNA			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	202	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CCCAGGGGCTCGTAGTTCACA	0.478000													52	44					0	0	0.000781405	0	0
TTC39C	125488	broad.mit.edu	37	18	21705489	21705489	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:21705489C>T	ENST00000540918.2	+	5	724	c.474C>T	c.(472-474)ttC>ttT	p.F158F	TTC39C_ENST00000317571.3_Silent_p.F465F|TTC39C_ENST00000304621.6_Silent_p.F404F			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	465							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ACTGTTCCTTCCCCAACCTGC	0.458000													18	39					0	0	0.00074312	0	0
FRAS1	80144	broad.mit.edu	37	4	79462122	79462122	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:79462122G>A	ENST00000264895.6	+	74	12323	c.11883G>A	c.(11881-11883)cgG>cgA	p.R3961R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3956					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCCGGACCGGGTGGAGAAGA	0.502000													16	69					0	0	0.000566183	0	0
SIM1	6492	broad.mit.edu	37	6	100838545	100838545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:100838545G>A	ENST00000369208.3	-	12	2775	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	SIM1_ENST00000262901.4_Missense_Mutation_p.R665C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	665	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTGAAATGCGATCCGAATTG	0.458000													37	92					0	0	0.00128727	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108855	2108855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:2108855G>A	ENST00000406869.1	-	12	1749	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.Q398*|MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.Q306*|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.Q398*			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	398	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCCGTTTCTGGAGCCTCCGG	0.632000													24	44					0	0	0.00178596	0	0
COL6A1	1291	broad.mit.edu	37	21	47412099	47412099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:47412099C>T	ENST00000361866.3	+	17	1318	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	402	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGAGCCTGGGCCCCCCGGAGA	0.642000													10	27					0	0	0.00136819	0	0
C16orf62	57020	broad.mit.edu	37	16	19693631	19693631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:19693631G>A	ENST00000438132.3	+	28	2761	c.2713G>A	c.(2713-2715)Gag>Aag	p.E905K	C16orf62_ENST00000448695.1_Missense_Mutation_p.E666K|C16orf62_ENST00000251143.5_Missense_Mutation_p.E816K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E565K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E812K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E723K	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	816						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAACAGCGATGAGAAAATCCG	0.532000													16	54					0	0	0.000308642	0	0
BRD2	6046	broad.mit.edu	37	6	32947752	32947752	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32947752C>T	ENST00000395289.2	+	12	3695	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	BRD2_ENST00000374825.4_Silent_p.G663G|BRD2_ENST00000395287.1_Silent_p.G698G|BRD2_ENST00000449085.2_Silent_p.G616G|BRD2_ENST00000443797.2_Silent_p.G543G|BRD2_ENST00000374831.4_Silent_p.G663G			P25440	BRD2_HUMAN	bromodomain containing 2	663	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAAGCTGGGCCGAGTTGTGC	0.483000													9	43					0	0	0.000442599	0	0
DDX23	9416	broad.mit.edu	37	12	49237775	49237775	+	Silent	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:49237775G>T	ENST00000308025.3	-	3	347	c.268C>A	c.(268-270)Cga>Aga	p.R90R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	90	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R90R(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTCGATCTCGGTCCTTCTTA	0.488000													7	218					2.17888e-05	8.45304e-05	0.000442599	1	0
METTL2B	55798	broad.mit.edu	37	7	128119245	128119245	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:128119245A>C	ENST00000480046.1	+	2	156	c.41A>C	c.(40-42)aAt>aCt	p.N14T	METTL2B_ENST00000262432.8_Missense_Mutation_p.N79T			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	79							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAATACTGGAATGACTTCTAC	0.323000													12	27					0	0	0.00074312	0	0
COL6A6	131873	broad.mit.edu	37	3	130282394	130282394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:130282394C>T	ENST00000358511.6	+	2	578	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.H183Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	183	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						GTCTCAGTTTCATTTCAACCT	0.473000													24	55					0	0	0.00278032	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913090	54913090	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:54913090G>A	ENST00000293373.6	+	16	1678	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	NCKAP1L_ENST00000545638.2_Silent_p.V483V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	533					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTGCTGGTGGAAACTTCTG	0.428000													34	67					0	0	0.00170553	0	0
COL5A3	50509	broad.mit.edu	37	19	10088358	10088358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:10088358C>T	ENST00000264828.3	-	42	3123	c.3038G>A	c.(3037-3039)gGt>gAt	p.G1013D		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1013	Triple-helical 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)			GCCCAAAGGACCGCGCTCACC	0.577000													8	18					0	0	0.000274275	0	0
XDH	7498	broad.mit.edu	37	2	31605980	31605980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:31605980C>T	ENST00000379416.3	-	11	973	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	309	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGGTTTTTTCCACAATGCTC	0.532000													14	35					0	0	0.00244969	0	0
GRIA1	2890	broad.mit.edu	37	5	153078581	153078581	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:153078581G>T	ENST00000285900.5	+	10	1743	c.1400G>T	c.(1399-1401)cGa>cTa	p.R467L	GRIA1_ENST00000518142.1_Missense_Mutation_p.R387L|GRIA1_ENST00000518783.1_Missense_Mutation_p.R477L|GRIA1_ENST00000340592.5_Missense_Mutation_p.R467L|GRIA1_ENST00000521843.2_Missense_Mutation_p.R398L|GRIA1_ENST00000448073.4_Missense_Mutation_p.R477L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	467					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R467Q(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACGGAGCCCGAGACCCTGAC	0.562000													6	20					0.00198382	0.00762708	0.00198382	1	0
RP1L1	94137	broad.mit.edu	37	8	10470341	10470341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:10470341G>A	ENST00000382483.3	-	4	1490	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	423					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACCTCTTCCGAGCTGCCACT	0.667000													12	38					0	0	0.000566183	0	0
MARC2	54996	broad.mit.edu	37	1	220955232	220955232	+	Silent	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:220955232C>A	ENST00000366913.3	+	7	1195	c.997C>A	c.(997-999)Cgg>Agg	p.R333R	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	333	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCCTGTGTATCGGATGGTGTA	0.433000													37	98					1.22674e-20	4.80079e-20	0.00195071	1	0
EPHA7	2045	broad.mit.edu	37	6	93967213	93967213	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:93967213G>A	ENST00000369303.4	-	12	2323	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	713	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CATTTTCCATGAACTCTATTA	0.363000													20	45					0	0	0.00229938	0	0
NAT16	375607	broad.mit.edu	37	7	100815612	100815612	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100815612G>A	ENST00000300303.2	-	4	1096	c.858C>T	c.(856-858)atC>atT	p.I286I	NAT16_ENST00000455377.1_Silent_p.I286I	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	286							N-acetyltransferase activity										CTCCGTGCGGGATGGGGAAGG	0.716000													5	9					0	0	0.000602214	0	0
GPR115	221393	broad.mit.edu	37	6	47681738	47681738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:47681738G>A	ENST00000283303.2	+	6	1015	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GPR115_ENST00000371220.1_Missense_Mutation_p.E310K|GPR115_ENST00000327753.3_Missense_Mutation_p.E253K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	253					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TAATACCTCAGAGAAAAGCCT	0.403000													19	50					0	0	0.000958276	0	0
MYO18B	84700	broad.mit.edu	37	22	26422462	26422462	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:26422462G>A	ENST00000335473.7	+	43	6772	c.6522G>A	c.(6520-6522)ctG>ctA	p.L2174L	MYO18B_ENST00000407587.2_Silent_p.L2175L|MYO18B_ENST00000536101.1_Silent_p.L2174L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2174						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATTGGCACTGAGCAGAGCCC	0.517000													50	115					0	0	0.000781405	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813746	100813746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:100813746G>A	ENST00000323346.5	+	12	1892	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SLC17A8_ENST00000392989.3_Missense_Mutation_p.E477K|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	527					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGACCAGGACGAATTAGCTGA	0.468000													10	23					0	0	0.000442599	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014739	83014739	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:83014739C>T	ENST00000307792.3	-	16	2213	c.1746G>A	c.(1744-1746)ttG>ttA	p.L582L	SEMA3E_ENST00000427262.1_Silent_p.L522L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	582	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CAGTCTTATCCAAAGCATCCC	0.363000													25	69					0	0	0.00106085	0	0
CEP250	11190	broad.mit.edu	37	20	34095953	34095953	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:34095953C>T	ENST00000397527.1	+	32	7560	c.6840C>T	c.(6838-6840)gcC>gcT	p.A2280A	CEP250_ENST00000342580.4_Silent_p.A2224A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2280					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGCAGTGGCCCGGCTGGAGA	0.577000													35	87					0	0	0.00195071	0	0
PLCB2	5330	broad.mit.edu	37	15	40590104	40590104	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:40590104G>A	ENST00000260402.3	-	12	1461	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	PLCB2_ENST00000557821.1_Silent_p.I404I|PLCB2_ENST00000456256.2_Silent_p.I404I	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	404	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAAACGACAGGATGATGGGAT	0.542000													11	29					0	0	0.000422831	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547676	44547676	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:44547676G>A	ENST00000260649.6	+	10	2032	c.1956G>A	c.(1954-1956)acG>acA	p.T652T	SLC3A1_ENST00000409740.3_Silent_p.T283T|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409380.1_Silent_p.T374T|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409411.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	652			T -> R (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AACACAACACGAAGAATCTCC	0.418000													21	43					0	0	0.00278032	0	0
NLRP8	126205	broad.mit.edu	37	19	56490864	56490864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:56490864G>A	ENST00000291971.3	+	9	3052	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	NLRP8_ENST00000590542.1_Missense_Mutation_p.G975E	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	994						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATGCGATTGGAGTCTATGGT	0.488000													35	95					0	0	0.000953801	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163092	72163092	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:72163092T>A	ENST00000537465.1	-	13	1996	c.1838A>T	c.(1837-1839)gAt>gTt	p.D613V	PMFBP1_ENST00000355636.6_Missense_Mutation_p.D463V|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D608V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	613										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCCTGAAGATCTTCTTCTAA	0.443000													95	166					0	0	0.000781405	0	0
ASXL2	55252	broad.mit.edu	37	2	25967139	25967139	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:25967139G>A	ENST00000435504.4	-	13	2360	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	ASXL2_ENST00000404843.1_Silent_p.T429T|ASXL2_ENST00000272341.4_Silent_p.T429T|ASXL2_ENST00000336112.4_Silent_p.T661T			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	689	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTGGAATGGTCCCTCCAA	0.612000													23	46					0	0	0.00047179	0	0
PLXNA4	91584	broad.mit.edu	37	7	131887442	131887442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:131887442C>T	ENST00000359827.3	-	12	3511	c.2549G>A	c.(2548-2550)gGt>gAt	p.G850D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G850D			Q9HCM2	PLXA4_HUMAN	plexin A4	850	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTTTGGCACCAGACAGCTC	0.662000													13	23					0	0	0.00136819	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758116	15758116	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:15758116G>A	ENST00000221307.7	+	5	555	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CYP4F3_ENST00000586182.1_Silent_p.E169E|CYP4F3_ENST00000585846.1_Silent_p.E169E|CYP4F3_ENST00000591058.1_Silent_p.E169E	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	169					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTTTCAATGAGAGTGTGAACA	0.502000													30	116					0	0	0.00058488	0	0
TTN	7273	broad.mit.edu	37	2	179664632	179664632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179664632C>T	ENST00000589042.1	-	5	813	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	TTN_ENST00000591111.1_Missense_Mutation_p.E197K|TTN_ENST00000342992.6_Missense_Mutation_p.E197K|TTN_ENST00000359218.5_Missense_Mutation_p.E197K|TTN_ENST00000360870.5_Missense_Mutation_p.E197K|TTN_ENST00000460472.2_Missense_Mutation_p.E197K|TTN_ENST00000342175.6_Missense_Mutation_p.E197K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	197							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)			GGTACTTCTTCTTCACCTGTG	0.373000													15	33					0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179554320	179554320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179554320G>A	ENST00000589042.1	-	123	32073	c.31849C>T	c.(31849-31851)Cct>Tct	p.P10617S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10300S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9373S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10300	Glu-rich.|Pro-rich.						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)			TGTACTTCAGGAACTTGAAGA	0.368000													7	23					0	0	0.000157383	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806600	97806600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:97806600C>T	ENST00000358642.2	+	1	584	c.584C>T	c.(583-585)tCt>tTt	p.S195F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AATGGTCCATCTATTAACGCA	0.303000													24	43					0	0	0.00278032	0	0
PTPRR	5801	broad.mit.edu	37	12	71147971	71147971	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:71147971C>T	ENST00000283228.2	-	5	1190	c.738_splice	c.e5+1	p.M246_splice	PTPRR_ENST00000440835.2_Splice_Site_p.M1_splice|PTPRR_ENST00000549308.1_Splice_Site_p.M1_splice|PTPRR_ENST00000378778.1_Splice_Site_p.M40_splice|PTPRR_ENST00000342084.4_Splice_Site_p.M134_splice	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	246					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCAAACTTACCATCAAACACG	0.373000													8	28					0	0	0.000442599	0	0
RNF133	168433	broad.mit.edu	37	7	122338165	122338165	+	Missense_Mutation	SNP	G	G	A	rs113296018	byFrequency	TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:122338165G>A	ENST00000340112.2	-	1	1045	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	270						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTCAGAATACGAACTATGTCA	0.388000													44	51					0	0	0.000781405	0	0
USO1	8615	broad.mit.edu	37	4	76714941	76714941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:76714941G>A	ENST00000538159.1	+	13	1345	c.1345G>A	c.(1345-1347)Gcg>Acg	p.A449T	USO1_ENST00000514213.2_Missense_Mutation_p.A432T			O60763	USO1_HUMAN	USO1 vesicle transport factor	447	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTGCCCATGCGTTGCAAGA	0.453000													17	32					0	0	0.00074312	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828092	43828092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43828092G>A	ENST00000377564.3	+	9	1741	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	450	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGATTAAACGATGGGCAGTG	0.448000													33	74					0	0	0.00111076	0	0
SSH1	54434	broad.mit.edu	37	12	109210883	109210883	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:109210883A>G	ENST00000326495.5	-	5	425	c.332T>C	c.(331-333)gTg>gCg	p.V111A	SSH1_ENST00000551165.1_Missense_Mutation_p.V111A|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.V122A|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	111					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGCTGTACACCACCACCAT	0.597000													21	46					0	0	0.00121646	0	0
RYR1	6261	broad.mit.edu	37	19	38979928	38979928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:38979928G>A	ENST00000355481.4	+	35	5790	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K	RYR1_ENST00000360985.3_Missense_Mutation_p.E1887K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1887K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1887	6 X approximate repeats.|Glu-rich (acidic).				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	gggtgaagaggaagatgagga	0.498000													10	11					0	0	0.000442599	0	0
LPA	4018	broad.mit.edu	37	6	160978539	160978539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:160978539C>T	ENST00000447678.1	-	30	4816	c.4696G>A	c.(4696-4698)Gat>Aat	p.D1566N	LPA_ENST00000316300.5_Missense_Mutation_p.D1566N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4074	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACACGGATCGGTTGTGTAA	0.498000													29	56					0	0	0.00106085	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672707	31672707	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:31672707C>T	ENST00000375483.3	+	4	687	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	229			I -> V (in dbSNP:rs2070325).			cytoplasm|extracellular region	lipid binding										GGCTGCGTATCGTGGAGCTGA	0.662000													11	10					0	0	0.00136819	0	0
GRIA1	2890	broad.mit.edu	37	5	153078433	153078433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:153078433C>T	ENST00000285900.5	+	10	1595	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S	GRIA1_ENST00000518142.1_Missense_Mutation_p.P338S|GRIA1_ENST00000518783.1_Missense_Mutation_p.P428S|GRIA1_ENST00000340592.5_Missense_Mutation_p.P418S|GRIA1_ENST00000521843.2_Missense_Mutation_p.P349S|GRIA1_ENST00000448073.4_Missense_Mutation_p.P428S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	418					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGGAAGATCCTTATGTGAT	0.488000													23	41					0	0	0.000586117	0	0
DSP	1832	broad.mit.edu	37	6	7575559	7575559	+	Missense_Mutation	SNP	C	C	T	rs141834182		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:7575559C>T	ENST00000379802.3	+	18	2809	c.2468C>T	c.(2467-2469)tCg>tTg	p.S823L	DSP_ENST00000418664.2_Missense_Mutation_p.S823L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	823	Globular 1.				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)		TTGAAGAAGTCGTTGTTGGCC	0.393000													42	119					0	0	0.00285205	0	0
KIF2C	11004	broad.mit.edu	37	1	45226020	45226020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:45226020G>A	ENST00000372217.1	+	14	1625	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	KIF2C_ENST00000372222.3_Missense_Mutation_p.R366Q|KIF2C_ENST00000372224.4_Missense_Mutation_p.R479Q|KIF2C_ENST00000372218.4_Missense_Mutation_p.R438Q|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA			Q99661	KIF2C_HUMAN	kinesin family member 2C	479	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ATTATTCTTCGAGCTAAAGGG	0.527000													25	47					0	0	0.000878237	0	0
WRB	7485	broad.mit.edu	37	21	40765190	40765190	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:40765190T>A	ENST00000333781.5	+	4	576	c.435T>A	c.(433-435)ttT>ttA	p.F145L	WRB_ENST00000398753.1_Missense_Mutation_p.F111L|WRB_ENST00000541890.1_Missense_Mutation_p.F145L|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000380708.1_Missense_Mutation_p.F111L	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	145						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TGGTAGCCTTTCCTACTAGAG	0.463000													10	22					0	0	0.000673444	0	0
NEIL2	252969	broad.mit.edu	37	8	11637289	11637289	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11637289C>T	ENST00000284503.6	+	3	920	c.321C>T	c.(319-321)ctC>ctT	p.L107L	NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Silent_p.L46L|NEIL2_ENST00000436750.3_Silent_p.L107L|NEIL2_ENST00000455213.2_Silent_p.L107L	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	107					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTGCAGAGCTCGTCCCCCAGG	0.597000								Base excision repair (BER), DNA glycosylases					17	50					0	0	0.00121646	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43628658	43628658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:43628658G>A	ENST00000332857.6	-	3	312	c.284C>T	c.(283-285)tCg>tTg	p.S95L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AAGAAGGTCCGAAGTCTCCTC	0.612000													42	91					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9087822	9087822	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:9087822C>T	ENST00000397910.4	-	1	4196	c.3993G>A	c.(3991-3993)aaG>aaA	p.K1331K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1331	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						AACTTGTATCCTTAGGATCCG	0.522000													16	42					0	0	0.000566183	0	0
FGL2	10875	broad.mit.edu	37	7	76828852	76828852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:76828852C>T	ENST00000248598.5	-	1	291	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	87					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTTACGATTTCCTTGAGGTTT	0.507000													18	51					0	0	0.000958276	0	0
CNDP1	84735	broad.mit.edu	37	18	72238423	72238423	+	Silent	SNP	G	G	C			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr18:72238423G>C	ENST00000582365.1	+	6	696	c.630G>C	c.(628-630)gtG>gtC	p.V210V	CNDP1_ENST00000358821.3_Silent_p.V253V			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	253					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTCTGCAGGTGAAATGCAGAG	0.428000													22	62					0	0	0.00047179	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069466	114069466	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:114069466G>A	ENST00000462705.1	-	11	2061	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	ZBTB20_ENST00000481632.1_Silent_p.L414L|ZBTB20_ENST00000393785.2_Silent_p.L414L|ZBTB20_ENST00000474710.1_Silent_p.L487L|ZBTB20_ENST00000357258.3_Silent_p.L414L|ZBTB20_ENST00000471418.1_Silent_p.L414L|ZBTB20_ENST00000464560.1_Silent_p.L414L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCATCCTCAGGTTGCTGGTG	0.592000													18	33					0	0	0.00121646	0	0
FAM83B	222584	broad.mit.edu	37	6	54792355	54792355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:54792355G>A	ENST00000306858.7	+	4	775	c.659G>A	c.(658-660)gGg>gAg	p.G220E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	220										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCAAAAACAGGGGCAAAATTC	0.333000													35	62					0	0	0.000814825	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210763	193210763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr3:193210763G>A	ENST00000342695.4	-	5	798	c.476C>T	c.(475-477)tCt>tTt	p.S159F	ATP13A4_ENST00000295548.3_Missense_Mutation_p.S159F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.S159F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	159					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATCTTGGCAGAACTAAGCCA	0.308000													13	37					0	0	0.00244969	0	0
KLF17	128209	broad.mit.edu	37	1	44595472	44595472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:44595472G>A	ENST00000372299.3	+	2	587	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	177					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAACCCTCCAGTGCCTTACCC	0.597000													27	36					0	0	0.00127121	0	0
CLTCL1	8218	broad.mit.edu	37	22	19221047	19221047	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr22:19221047G>A	ENST00000263200.10	-	8	1338	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	CLTCL1_ENST00000353891.5_Silent_p.L422L|CLTCL1_ENST00000427926.1_Silent_p.L422L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	422	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GACCCTGGTCGAGCAGGATTC	0.502000			T	?	ALCL								9	34					0	0	0.000673444	0	0
CACNG5	27091	broad.mit.edu	37	17	64880956	64880956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:64880956C>T	ENST00000169565.3	+	4	748	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGGTCTCCTCCGGCCAGGAT	0.592000													29	41					0	0	0.00178596	0	0
TRERF1	55809	broad.mit.edu	37	6	42231058	42231058	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:42231058G>A	ENST00000372922.4	-	8	2446	c.1884_splice	c.e8+1	p.L628_splice	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Silent_p.L628L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCATCCTCACGAGCACAGGCA	0.667000													9	52					0	0	0.000274275	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127952	219127952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:219127952G>A	ENST00000522678.1	+	2	1373	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	GPBAR1_ENST00000519574.1_Missense_Mutation_p.E169K|GPBAR1_ENST00000521462.1_Missense_Mutation_p.E169K|GPBAR1_ENST00000479077.1_Missense_Mutation_p.E169K	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	169						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E169K(2)		cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGTACCTCGAAGTCTATGG	0.662000													18	35					0	0	0.00152264	0	0
NBAS	51594	broad.mit.edu	37	2	15674761	15674761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:15674761C>A	ENST00000281513.5	-	9	677	c.652G>T	c.(652-654)Gga>Tga	p.G218*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.G218*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	218										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGATTTGTTCCAACACTAAAT	0.343000													7	149					0.00198382	0.00762708	0.00198382	1	0
CHST15	51363	broad.mit.edu	37	10	125805483	125805483	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr10:125805483G>A	ENST00000346248.5	-	2	888	c.246C>T	c.(244-246)ctC>ctT	p.L82L	CHST15_ENST00000435907.1_Silent_p.L82L|CHST15_ENST00000421115.1_Silent_p.L82L	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	82					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						GTCCAAAAACGAGGCTACATC	0.473000													21	21					0	0	0.00152264	0	0
OR1N1	138883	broad.mit.edu	37	9	125289425	125289425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125289425C>T	ENST00000304880.2	-	1	147	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGGTGCAGGTCAGAGCCAATG	0.498000													30	40					0	0	0.0024448	0	0
LRRC46	90506	broad.mit.edu	37	17	45914246	45914246	+	Silent	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:45914246G>A	ENST00000269025.4	+	8	1089	c.726G>A	c.(724-726)gtG>gtA	p.V242V		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	242										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						TACCTGGGGTGCCCATGGCTG	0.672000													16	52					0	0	0.00188189	0	0
ESYT1	23344	broad.mit.edu	37	12	56527655	56527655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr12:56527655C>T	ENST00000394048.5	+	13	1735	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ESYT1_ENST00000267113.4_Missense_Mutation_p.P491S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P491S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	491	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCAGGATCTTCCTGTGAGTTT	0.562000													27	49					0	0	0.00209593	0	0
OR1J2	26740	broad.mit.edu	37	9	125273119	125273119	+	Silent	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:125273119C>T	ENST00000335302.5	+	1	39	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCGAGTTCCTCCTTCTGGGCC	0.547000													38	146					0	0	0.0025221	0	0
TRPM6	140803	broad.mit.edu	37	9	77442614	77442614	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr9:77442614C>T	ENST00000359047.2	-	7	1158		c.e7+1		TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000360774.1_Intron|TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000449912.2_Intron|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGAGTGAGCTCTGATGGTC	0.552000													19	12					0	0	0.00121646	0	0
PEG3	5178	broad.mit.edu	37	19	57329146	57329146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr19:57329146G>A	ENST00000326441.9	-	9	1193	c.830C>T	c.(829-831)tCc>tTc	p.S277F	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S151F|PEG3_ENST00000423103.2_Missense_Mutation_p.S277F|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S153F|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	277					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACTTCTCTTGGATCTTGATGA	0.517000													11	33					0	0	0.00244969	0	0
ABCA3	21	broad.mit.edu	37	16	2331480	2331480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:2331480G>A	ENST00000301732.5	-	27	4766	c.4066C>T	c.(4066-4068)Cct>Tct	p.P1356S	ABCA3_ENST00000382381.3_Missense_Mutation_p.P1298S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1356					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGTCCTCAGGAAGCACAGGC	0.597000													15	20					0	0	0.000566183	0	0
TXK	7294	broad.mit.edu	37	4	48114430	48114430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr4:48114430C>T	ENST00000264316.4	-	4	359	c.274G>A	c.(274-276)Gat>Aat	p.D92N	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	92	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGAAAATCATAAAGTGCC	0.507000													36	70					0	0	0.00111076	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267899	103267899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:103267899C>T	ENST00000217926.5	-	1	360	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	112					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCCAATATGTCATGAACCAAA	0.632000													20	14					0	0	0.00229938	0	0
SLC37A1	54020	broad.mit.edu	37	21	43984842	43984842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:43984842C>T	ENST00000352133.2	+	14	2142	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	SLC37A1_ENST00000398341.3_Missense_Mutation_p.S387L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	387					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGTGTGATCTCAGACCGACTG	0.667000													9	37					0	0	0.000978159	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839366	100839366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr7:100839366G>A	ENST00000223114.4	-	7	1053	c.887C>T	c.(886-888)cCc>cTc	p.P296L	MOGAT3_ENST00000440203.2_Missense_Mutation_p.P325S|MOGAT3_ENST00000379423.3_Silent_p.P228P	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	296					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGGGGGACGGGGATGGGGCG	0.672000													8	6					0	0	0.000157383	0	0
FLG	2312	broad.mit.edu	37	1	152280808	152280808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:152280808C>T	ENST00000368799.1	-	3	6589	c.6554G>A	c.(6553-6555)gGa>gAa	p.G2185E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2185	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ACTTCTGGATCCTGACTGCCC	0.537000									Ichthyosis				34	369					0	0	0.000781405	0	0
ZNF165	7718	broad.mit.edu	37	6	28054062	28054062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:28054062C>T	ENST00000377325.1	+	3	1080	c.524C>T	c.(523-525)tCa>tTa	p.S175L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	175					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTGATTCATCAGAACCCCAG	0.463000													17	55					0	0	0.000958276	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151204160	151204160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:151204160delC	ENST00000409426.1	+	4	660	c.215delC	c.(214-216)gcfs	p.A72fs	PIP5K1A_ENST00000368890.4_Frame_Shift_Del_p.A71fs|PIP5K1A_ENST00000368888.4_Frame_Shift_Del_p.A84fs|PIP5K1A_ENST00000441902.2_Frame_Shift_Del_p.A72fs			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	84					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTCATCAGCCTTGAAAGGT	0.433													22	63	---	---	---	---					
CEP350	9857	broad.mit.edu	37	1	179983057	179983065	+	In_Frame_Del	DEL	GTTCGAGAA	GTTCGAGAA	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr1:179983057_179983065delGTTCGAGAA	ENST00000367607.3	+	10	1887_1895	c.1469_1477delGTTCGAGAA	c.(1468-1479)cgt>c	p.RSRS490del		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	490						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTCAGAACGTTCGAGAAGTAAATCTCG	0.373													22	71	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179439386	179439393	+	Frame_Shift_Del	DEL	TAAATGGA	TAAATGGA	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr2:179439386_179439393delTAAATGGA	ENST00000589042.1	-	326	71690_71697	c.71466_71473delTCCATTTA	c.(71464-71475)taagfs	p.YPFK23822fs	TTN_ENST00000591111.1_Frame_Shift_Del_p.YPFK22181fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.YPFK21254fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.YPFK14882fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.YPFK14949fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.YPFK14757fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22181	Fibronectin type-III 73.						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)			CCAGGAACCTTAAATGGATAGTTGGCAA	0.471													16	56	---	---	---	---					
SLC25A2	83884	broad.mit.edu	37	5	140682838	140682839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr5:140682838_140682839insA	ENST00000239451.4	-	1	773_774	c.594_595insT	c.(592-597)ttcgtcfs	p.V199fs		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	199					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CTCCCTGACGCAAAAAACGATC	0.475													31	100	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097086	32097086	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr6:32097086delC	ENST00000375156.3	-	2	742	c.472delG	c.(472-474)agfs	p.E158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCTATGAGCTCCCCCCAAGTT	0.587													7	776	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11994579	11994580	+	RNA	DEL	TG	TG	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr8:11994579_11994580delTG	ENST00000434078.2	+	0	608					NR_027425.1																						TGTTCgtgtttgtgtgtgtgtg	0.505													3	3	---	---	---	---					
B2M	567	broad.mit.edu	37	15	45003781	45003784	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr15:45003781_45003784delCTCT	ENST00000558401.1	+	1	107_110	c.37_40delCTCT	c.(37-42)ctfs	p.LS15fs	B2M_ENST00000544417.1_Frame_Shift_Del_p.LS15fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.LS15fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	15					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCTGG	0.613													18	29	---	---	---	---					
WFIKKN1	117166	broad.mit.edu	37	16	683416	683416	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr16:683416delG	ENST00000319070.2	+	2	1328	c.1006delG	c.(1006-1008)ggfs	p.G336fs		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	336	BPTI/Kunitz inhibitor 1.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				TGGCTGTGATGGGGCGGCCCG	0.736													2	4	---	---	---	---					
EFTUD2	9343	broad.mit.edu	37	17	42932017	42932017	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr17:42932017delG	ENST00000426333.2	-	22	2463	c.2166delC	c.(2164-2166)tafs	p.Y722fs	EFTUD2_ENST00000592576.1_Frame_Shift_Del_p.Y712fs|EFTUD2_ENST00000402521.3_Frame_Shift_Del_p.Y687fs|EFTUD2_ENST00000591382.1_Frame_Shift_Del_p.Y722fs	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	722						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GATCCCAATCGTACTTGGTCT	0.572													40	56	---	---	---	---					
TP53INP2	58476	broad.mit.edu	37	20	33296571	33296571	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr20:33296571delT	ENST00000374810.3	+	3	417	c.28delT	c.(28-30)tcfs	p.F10fs	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Frame_Shift_Del_p.F10fs	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	10						nucleus				endometrium(1)|urinary_tract(1)	2						CAGCCTCTTCTTCAGCACCCC	0.652													2	4	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11180762	11180762	+	RNA	DEL	T	T	-	rs146742149		TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:11180762delT	ENST00000603265.1	+	0	231																											aACTAACTTCTTTTTTTTTTT	0.348													4	8	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343637	15343638	+	RNA	INS	-	-	T			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chr21:15343637_15343638insT	ENST00000344693.5	-	0	736					NR_027270.1																						AAAATTACATATTTCTCAACTG	0.312													21	68	---	---	---	---					
AP1S2	8905	broad.mit.edu	37	X	15845465	15845465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MD-06A-11D-A197-08	TCGA-EE-A2MD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e4aefb6-3828-48cd-8e98-a49d78bc3999	7824f747-1486-4558-abb1-236a3e1ee681	g.chrX:15845465delC	ENST00000329235.2	-	5	700	c.457delG	c.(457-459)aafs	p.E153fs		NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	153					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					AGTCCAATTTCTTCAAGAACA	0.453													55	28	---	---	---	---					
