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
OR52M1	119772	broad.mit.edu	37	11	4567036	4567036	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:4567036G>C	ENST00000360213.1	+	1	616	c.616G>C	c.(616-618)Ggc>Cgc	p.G206R		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGAGCATCGGCTTTCTGGT	0.502000													11	261					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428104	10428104	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10428104C>T	ENST00000245503.5	-	34	5325	c.4941G>A	c.(4939-4941)agG>agA	p.R1647R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.R1647R|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1647					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						TCCTGTAGTTCCTCAGGGCCT	0.502000													27	213					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4535500	4535500	+	Silent	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:4535500T>C	ENST00000570836.1	-	13	1713	c.1617A>G	c.(1615-1617)caA>caG	p.Q539Q	ALOX15_ENST00000293761.3_Silent_p.Q539Q|ALOX15_ENST00000574640.1_Silent_p.Q500Q|ALOX15_ENST00000545513.1_Silent_p.Q561Q			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	539	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAGAGGCGTGTTGGCCGGTGC	0.582000													5	84					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56313060	56313060	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56313060C>T	ENST00000443188.1	-	7	2759	c.2049G>A	c.(2047-2049)aaG>aaA	p.K683K	NLRP11_ENST00000592953.1_Silent_p.K584K|NLRP11_ENST00000589824.2_Silent_p.K629K|NLRP11_ENST00000360133.3_Silent_p.K629K|NLRP11_ENST00000589093.1_Silent_p.K683K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	683							ATP binding			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)		GAGCCAAAGCCTTGAGTAAGT	0.453000													9	87					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442124	41442124	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:41442124G>A	ENST00000599198.1	+	0	348					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCTCTGGCCGGGGAAAAATCG	0.607000													4	70					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258504	16258504	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:16258504C>T	ENST00000375759.3	+	11	5973	c.5769C>T	c.(5767-5769)ccC>ccT	p.P1923P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1923					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAAAGAGCCCGTTGAGCAAC	0.572000													9	131					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862293	8862293	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:8862293T>C	ENST00000338037.6	+	32	3475	c.3448T>C	c.(3448-3450)Tac>Cac	p.Y1150H	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1150					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						GGAGCAAGAATACCAAGACAA	0.458000													9	258					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631487	9631487	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:9631487C>T	ENST00000570827.2	+	15	2693	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	USP43_ENST00000570475.1_Missense_Mutation_p.S846L|USP43_ENST00000285199.6_Missense_Mutation_p.S851L			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	851					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						TCCATTGTGTCGCTGTTGACG	0.582000													10	39					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891840	2891840	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:2891840A>G	ENST00000254528.3	+	4	1874	c.1715A>G	c.(1714-1716)gAa>gGa	p.E572G		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	572					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAACAGGGAAGACCGCGCA	0.478000													10	91					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325530	150325530	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:150325530C>T	ENST00000328902.5	-	3	372	c.156G>A	c.(154-156)ggG>ggA	p.G52G	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	52							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCACTCTTCCCACTCCCTG	0.527000													85	492					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586181	54586181	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:54586181A>C	ENST00000545554.1	+	10	3907	c.3907A>C	c.(3907-3909)Aag>Cag	p.K1303Q	UNC13C_ENST00000260323.11_Missense_Mutation_p.K1303Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.K1301Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1303	C2 1.				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)		ACATTTCAAAAAGGAGTCAGA	0.353000													6	90					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376666	200376666	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:200376666G>A	ENST00000294740.2	-	2	2292	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	ZNF281_ENST00000367352.3_Missense_Mutation_p.S687F|ZNF281_ENST00000367353.1_Missense_Mutation_p.S723F	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	723					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGAGGTAACAGATTGGCCGAA	0.428000													7	125					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37014168	37014168	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr13:37014168G>A	ENST00000418263.1	+	6	1293	c.943G>A	c.(943-945)Gat>Aat	p.D315N	CCNA1_ENST00000255465.4_Missense_Mutation_p.D316N|CCNA1_ENST00000449823.1_Missense_Mutation_p.D272N|CCNA1_ENST00000440264.1_Missense_Mutation_p.D272N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	316					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTATATCACCGATGATACATA	0.383000													12	96					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517535	123517535	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:123517535C>T	ENST00000422452.2	-	30	7309	c.7246G>A	c.(7246-7248)Gaa>Aaa	p.E2416K	TENM1_ENST00000371130.3_Missense_Mutation_p.E2409K|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAGTTATTTTCAAAGGAGTAG	0.363000													9	129					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24495953	24495953	+	Silent	SNP	G	G	A	rs141902174		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:24495953G>A	ENST00000327535.1	-	3	333	c.321C>T	c.(319-321)tcC>tcT	p.S107S	IFNLR1_ENST00000374419.1_Silent_p.S24S|IFNLR1_ENST00000374421.3_Silent_p.S107S|IFNLR1_ENST00000374418.3_Silent_p.S107S|IFNLR1_ENST00000327575.2_Silent_p.S107S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		AGGGGGACTTGGAGCTGGGAG	0.547000													8	88					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668215	53668215	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:53668215C>T	ENST00000600412.1	-	2	1448	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R	ZNF665_ENST00000396424.3_Missense_Mutation_p.G510R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGTTTTTCTCCAGTATGAACT	0.393000													12	150					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55513971	55513971	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:55513971C>T	ENST00000500968.3	-	2	1484	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	468					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CCACCACTATCATCTTTGCTG	0.468000													13	169					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626876	108626876	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:108626876G>A	ENST00000264047.2	+	9	1578	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	SLC5A7_ENST00000409059.1_Silent_p.G434G|SLC5A7_ENST00000540517.1_Silent_p.G329G	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	434					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACACCTATGGGGCCGTGGCAG	0.493000													7	101					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638712	149638712	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:149638712C>T	ENST00000370401.2	+	4	1177	c.867C>T	c.(865-867)ctC>ctT	p.L289L	MAMLD1_ENST00000426613.2_Silent_p.L264L|MAMLD1_ENST00000262858.5_Silent_p.L289L|MAMLD1_ENST00000432680.2_Silent_p.L264L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	289					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)					AGGCCATGCTCCCTGTCGCTC	0.582000													9	157					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233243720	233243720	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:233243720C>T	ENST00000392027.2	+	2	385	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	39						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)		CGCGAGGCAGCCGAGGCCCTG	0.637000													14	134					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310224	10310224	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10310224C>T	ENST00000403437.2	-	18	2132	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	680	Actin-binding.|Myosin head-like.				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						GTTTTGGTTTCATTGGGAATG	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	61					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526280	189526280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:189526280C>T	ENST00000264731.3	+	4	633	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	TP63_ENST00000392460.3_Nonsense_Mutation_p.Q182*|TP63_ENST00000392461.3_Nonsense_Mutation_p.Q88*|TP63_ENST00000392463.2_Nonsense_Mutation_p.Q88*|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Nonsense_Mutation_p.Q88*|TP63_ENST00000418709.2_Nonsense_Mutation_p.Q182*|TP63_ENST00000456148.1_Nonsense_Mutation_p.Q88*|TP63_ENST00000320472.5_Nonsense_Mutation_p.Q182*|TP63_ENST00000440651.2_Nonsense_Mutation_p.Q182*|TP63_ENST00000354600.5_Nonsense_Mutation_p.Q88*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	182					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)		CGTGTCCTTCCAGCAGTCGAG	0.632000										HNSCC(45;0.13)			10	110					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695652	196695652	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:196695652G>A	ENST00000367429.4	+	13	2166	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	642	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAATGTTAAGGAAAAAACGA	0.338000													5	33					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86822196	86822196	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:86822196C>T	ENST00000359242.3	-	14	1730	c.1449G>A	c.(1447-1449)caG>caA	p.Q483Q	ODF2L_ENST00000317336.7_Silent_p.Q483Q|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Silent_p.Q454Q|ODF2L_ENST00000370567.1_Silent_p.Q454Q|ODF2L_ENST00000394731.1_Silent_p.Q323Q|ODF2L_ENST00000370566.3_Intron	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	483						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GCAGACTCTCCTGACACTCGT	0.562000													13	99					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691145	88691145	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:88691145C>T	ENST00000301011.5	+	12	2234	c.2034C>T	c.(2032-2034)ccC>ccT	p.P678P	ZC3H18_ENST00000452588.2_Silent_p.P702P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	678	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)		CCAGGACCCCCCCCAGGAGGT	0.667000													5	29					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060459	16060459	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:16060459C>T	ENST00000322107.1	+	1	642	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTGTTTATTCCTCATCATCC	0.488000													28	306					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655060	31655060	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:31655060G>A	ENST00000340345.4	-	1	216	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	64						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TTCACCGTAGGATTCTTGGCA	0.517000													12	123					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8665694	8665694	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:8665694C>T	ENST00000378641.3	+	10	1453	c.978C>T	c.(976-978)ttC>ttT	p.F326F	PLCB1_ENST00000338037.6_Silent_p.F326F|PLCB1_ENST00000378637.2_Silent_p.F326F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	326	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCACTATTTCATTAATTCCT	0.413000													36	186					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76728558	76728558	+	Silent	SNP	G	G	A	rs142510377	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:76728558G>A	ENST00000369950.3	-	7	873	c.684C>T	c.(682-684)ttC>ttT	p.F228F	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	228					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAACACAGCGAATTCTGTTT	0.413000													9	82					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733395	92733395	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:92733395G>A	ENST00000379958.2	-	3	2285	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	672						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATTCAAGGAATTTATTTT	0.378000													16	135					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145736915	145736915	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:145736915C>T	ENST00000428558.2	-	22	3567	c.3526G>A	c.(3526-3528)Gtg>Atg	p.V1176M	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1176					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCCCGTACACCTGGGCCGGG	0.682000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	48					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153030017	153030017	+	Silent	SNP	G	G	A	rs141629018		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:153030017G>A	ENST00000285900.5	+	4	931	c.588G>A	c.(586-588)aaG>aaA	p.K196K	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Silent_p.K116K|GRIA1_ENST00000518783.1_Silent_p.K206K|GRIA1_ENST00000521843.2_Silent_p.K127K|GRIA1_ENST00000340592.5_Silent_p.K196K|GRIA1_ENST00000448073.4_Silent_p.K206K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	196					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)	AGAAGAAAAAGGAGCGGCTGG	0.537000													14	133					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181436	140181436	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140181436G>A	ENST00000522353.2	+	1	654	c.654G>A	c.(652-654)ggG>ggA	p.G218G	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G218G	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGGTGGGAAACCAGAGC	0.393000													12	96					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343185	130343185	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:130343185C>T	ENST00000299164.2	+	8	2322	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	774	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTTCCCGGCCCATCCTGGAGC	0.677000													13	124					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036154	9036154	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:9036154G>C	ENST00000383836.3	-	19	2708	c.2281C>G	c.(2281-2283)Cgt>Ggt	p.R761G	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R737G	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	761	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATAGCTCACGCGGGGACCGC	0.597000			T	RAF1	pilocytic astrocytoma								5	126					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76783433	76783433	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:76783433G>A	ENST00000261183.3	-	12	1823	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	OSBPL8_ENST00000393249.2_Silent_p.F406F|OSBPL8_ENST00000393250.4_Silent_p.F406F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	448					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACTCAGATAGGAAATCTGCAT	0.338000													8	124					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113850136	113850136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:113850136C>T	ENST00000383673.2	-	6	1265	c.835G>A	c.(835-837)Gag>Aag	p.E279K	DRD3_ENST00000295881.7_Missense_Mutation_p.E279K|DRD3_ENST00000467632.1_Missense_Mutation_p.E279K|DRD3_ENST00000460779.1_Missense_Mutation_p.E279K	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	279					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GTCTTCTCCTCTCTTTTCAAC	0.512000													27	205					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35258483	35258483	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:35258483C>T	ENST00000373953.3	+	7	881	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ZNF76_ENST00000440666.2_Silent_p.A179A|ZNF76_ENST00000339411.5_Silent_p.A205A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	205					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						GTGGAAAGGCCTTTGCCACAG	0.547000													22	164					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503461	105503461	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:105503461G>A	ENST00000276654.5	-	7	2128	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.P655S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	674					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGAGGCAAAGGAGCTGCAACC	0.478000													5	68					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531100	43531100	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:43531100G>A	ENST00000430334.3	-	7	2251	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	PLEKHM1_ENST00000421073.2_Silent_p.S617S|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	706	PH 2.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGCCTCCAAGGACAGAGAAA	0.547000													6	88					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27895832	27895832	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:27895832G>A	ENST00000380898.2	-	3	609	c.60C>T	c.(58-60)ttC>ttT	p.F20F	GSG1L_ENST00000447459.2_Silent_p.F175F|GSG1L_ENST00000569166.1_Silent_p.F20F|GSG1L_ENST00000395724.3_Intron|GSG1L_ENST00000380897.3_Silent_p.F20F			Q6UXU4	GSG1L_HUMAN	GSG1-like	175						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACAGCCGCGAAGGCATTGA	0.577000													7	28					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104156785	104156785	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:104156785C>T	ENST00000369966.3	+	6	618	c.368C>T	c.(367-369)tCt>tTt	p.S123F	NFKB2_ENST00000428099.1_Missense_Mutation_p.S123F|NFKB2_ENST00000189444.6_Missense_Mutation_p.S123F	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	123	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGCGCCGTTTCTGTGGGGCCC	0.632000			T	IGH@	B-NHL								10	45					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75828803	75828803	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:75828803G>A	ENST00000322507.8	-	46	7619	c.7310C>T	c.(7309-7311)tCc>tTc	p.S2437F	COL12A1_ENST00000483888.2_Missense_Mutation_p.S2437F|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2437F|COL12A1_ENST00000345356.6_Missense_Mutation_p.S1273F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2437	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTCATCCTGGGACCGACCGTC	0.473000													6	120					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482584	39482584	+	RNA	SNP	T	T	C	rs17438520	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:39482584T>C	ENST00000513652.1	+	0	591																											GCCACAAGACTGCTAGCTCAC	0.453000													4	71					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31631125	31631125	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:31631125G>A	ENST00000349552.1	+	14	1281	c.1281G>A	c.(1279-1281)ccG>ccA	p.P427P		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	427						extracellular region	lipid binding										TCCCACTCCCGGACTTTCTGG	0.522000													8	103					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57566960	57566960	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:57566960C>T	ENST00000243077.3	+	21	3639	c.3173C>T	c.(3172-3174)cCc>cTc	p.P1058L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1058					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)	GCCACGAGGCCCCCTGGTGGC	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	66					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196741396	196741396	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:196741396C>T	ENST00000312428.6	-	37	6089	c.5989G>A	c.(5989-5991)Gaa>Aaa	p.E1997K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1997	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTAGATTTCCTTATTTAGT	0.303000													6	45					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:5811248G>A	ENST00000381095.3	-	6	2688	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	NLGN4X_ENST00000381092.1_Silent_p.F687F|NLGN4X_ENST00000275857.6_Silent_p.F687F|NLGN4X_ENST00000538097.1_Silent_p.F687F|NLGN4X_ENST00000381093.2_Silent_p.F707F	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000													16	180					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868009	89868009	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:89868009G>A	ENST00000534061.1	+	1	312		c.e1+1		NAALAD2_ENST00000321955.4_Splice_Site|NAALAD2_ENST00000525171.1_Splice_Site|NAALAD2_ENST00000375944.3_Splice_Site	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATGGTGGGTAAGTGAACA	0.552000													5	96					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288863	125288863	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:125288863G>A	ENST00000304880.2	-	1	709	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	237					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						ACTGCAGGTGGAAAAGGCCTT	0.537000													6	94					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61325795	61325795	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:61325795C>T	ENST00000283752.5	-	5	564	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.E141K	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	141					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CGACTTTCTTCTGGAGCATTT	0.393000													8	64					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60966461	60966461	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:60966461G>A	ENST00000279101.5	-	9	1148	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	380					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCACCGTCACGGGCTCCAGGC	0.632000													20	294					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447842	46447842	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:46447842G>A	ENST00000262158.2	-	4	1467	c.1181C>T	c.(1180-1182)aCc>aTc	p.T394I	SMAD7_ENST00000591805.1_Missense_Mutation_p.T179I|SMAD7_ENST00000589634.1_Missense_Mutation_p.T393I	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	394	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GATCTGCACGGTAAAGCCCGT	0.587000													6	72					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981382	7981382	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:7981382C>T	ENST00000328600.2	-	2	1938	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	593							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)		GATTTCTTTTCATTTGAATGT	0.368000													4	46					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757235	74757235	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:74757235C>T	ENST00000258080.3	+	1	732	c.102C>T	c.(100-102)gaC>gaT	p.D34D	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.D34D	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	34					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGACCCCTGACCTCCGGGCCC	0.692000													4	40					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884074	215884074	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:215884074G>A	ENST00000272895.7	-	13	1862	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	ABCA12_ENST00000389661.4_Missense_Mutation_p.A230V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	548					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)		CTTTTCAGAAGCATCTGCACT	0.378000													8	63					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13809241	13809241	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13809241G>A	ENST00000265104.4	-	46	7768	c.7664C>T	c.(7663-7665)aCc>aTc	p.T2555I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2555	AAA 3 (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)					CTCTGGGGTGGTATCAGACGG	0.433000									Kartagener syndrome				15	149					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191190	68191190	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:68191190G>A	ENST00000551171.1	+	4	393	c.68_splice	c.e4-1	p.R23_splice	RDH12_ENST00000539142.1_Splice_Site_p.R23_splice|RDH12_ENST00000267502.3_Splice_Site_p.R23_splice	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	23					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TTGCCGATAGGAAGTTCTTTG	0.468000													9	168					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35481510	35481510	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:35481510G>A	ENST00000308700.6	+	4	1514	c.562G>A	c.(562-564)Gct>Act	p.A188T	ISX_ENST00000404699.2_Missense_Mutation_p.A188T	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TTGTCCATCGGCTCAAGATCA	0.617000													18	208					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307487	43307487	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:43307487G>A	ENST00000361428.2	-	10	4326	c.4249C>T	c.(4249-4251)Cta>Tta	p.L1417L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1417					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)			GACCCTTTTAGAATCACCTCT	0.483000													8	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584752	179584752	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:179584752C>T	ENST00000589042.1	-	81	23841	c.23617G>A	c.(23617-23619)Gat>Aat	p.D7873N	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D6629N|TTN_ENST00000591111.1_Missense_Mutation_p.D7556N|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7556	Ig-like 61.						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)			ATTCCAGCATCGTTTTTGATT	0.383000													5	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428361	179428361	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:179428361C>T	ENST00000589042.1	-	326	82722	c.82498G>A	c.(82498-82500)Gaa>Aaa	p.E27500K	TTN_ENST00000342175.6_Missense_Mutation_p.E18627K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18435K|TTN_ENST00000342992.6_Missense_Mutation_p.E24932K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25859K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18560K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25859	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E18435K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTCAATTTCGGTACCTCCG	0.478000													12	198					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109388043	109388043	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:109388043G>A	ENST00000372073.1	+	5	861	c.525G>A	c.(523-525)gaG>gaA	p.E175E	TMEM164_ENST00000372068.2_Silent_p.E175E|TMEM164_ENST00000288381.4_Silent_p.E136E|TMEM164_ENST00000372072.3_Silent_p.E26E			Q5U3C3	TM164_HUMAN	transmembrane protein 164	175						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TTGAATTGGAGATTTACTACA	0.468000													5	121					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354649	10354649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10354649C>T	ENST00000255381.2	-	28	3969	c.3859G>A	c.(3859-3861)Gaa>Aaa	p.E1287K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1287					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						TGACCTGATTCTGTGTGTAAA	0.413000													6	102					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737588	13737588	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13737588C>T	ENST00000265104.4	-	66	11332	c.11228G>A	c.(11227-11229)aGa>aAa	p.R3743K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3743	AAA 5 (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)					CAGATGAGTTCTTTCTTTCTC	0.378000									Kartagener syndrome				9	55					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20569182	20569182	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:20569182C>T	ENST00000504154.1	+	28	3144	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	SLIT2_ENST00000503837.1_Silent_p.N960N|SLIT2_ENST00000273739.5_Silent_p.N968N|SLIT2_ENST00000503823.1_Silent_p.N956N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	964	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCATCAGTAACCCATGTAAAC	0.458000													5	64					0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161334778	161334778	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:161334778G>C	ENST00000367974.1	-	5	516	c.511C>G	c.(511-513)Ccc>Gcc	p.P171A		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	171										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTCTTTGGGGACCTGGAGTA	0.527000													15	126					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25792133	25792133	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:25792133C>T	ENST00000399878.3	-	12	2142	c.2020G>A	c.(2020-2022)Gga>Aga	p.G674R	SEL1L3_ENST00000264868.5_Missense_Mutation_p.G639R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G521R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	674						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGACATCTCCATCTTCTTTG	0.438000													8	119					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612255	48612255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:48612255C>T	ENST00000328333.8	-	76	6430	c.6323G>A	c.(6322-6324)gGa>gAa	p.G2108E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2076E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2108	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			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)		TCCAGGGGGTCCCTGTTCTCC	0.572000													4	62					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170204061	170204061	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:170204061G>A	ENST00000231706.4	-	5	1171	c.856C>T	c.(856-858)Cct>Tct	p.P286S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	286						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ATAGCATAAGGGATGGACGTG	0.537000													7	82					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186238	153186238	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:153186238G>A	ENST00000370028.3	-	5	580	c.523C>T	c.(523-525)Cac>Tac	p.H175Y	ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.H152Y|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.H175Y|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.H154Y	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	175					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCCATGTGATATGCCTGG	0.677000													12	116					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781322	96781322	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:96781322G>A	ENST00000409345.3	-	1	662	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	189					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGTAGACAAGGATCATGATGA	0.642000													4	62					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860873	860873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:860873G>A	ENST00000314167.4	-	21	2853	c.2743C>T	c.(2743-2745)Ctt>Ttt	p.L915F	GAK_ENST00000511163.1_Missense_Mutation_p.L836F|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	915					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGGGCCCAAGGAGGCAGCTG	0.736000													4	80					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615043	55615043	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:55615043C>T	ENST00000326258.1	+	1	235	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGTTATGGTGCCAAAAATGCT	0.413000													14	189					0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066414	106066414	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:106066414G>A	ENST00000577108.1	-	0	132				IGHE_ENST00000576077.1_RNA																							CATTTACCGGGATTTACAGAC	0.597000													15	143					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316132	125316132	+	Silent	SNP	C	C	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:125316132C>A	ENST00000373688.2	+	1	742	c.684C>A	c.(682-684)ctC>ctA	p.L228L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGTTCCCCTCCTGCTGATCG	0.507000													31	220					6.97489e-18	7.06882e-18	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135047828	135047828	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:135047828G>A	ENST00000541284.1	-	12	2281	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	CNOT4_ENST00000451834.1_Missense_Mutation_p.P648S|CNOT4_ENST00000423368.2_Missense_Mutation_p.P580S|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Missense_Mutation_p.P577S	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	315					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTCTGTGATGGAGCAGCGCTG	0.557000													19	232					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803572	142803572	+	RNA	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:142803572C>T	ENST00000423385.1	-	0	1393																											GGTAAGATTTCATAGATTTAA	0.264000													7	171					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547543	125547543	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:125547543G>A	ENST00000431078.1	+	18	3178	c.2814G>A	c.(2812-2814)caG>caA	p.Q938Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	938	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Q938Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAATGGACAGAAAATGGACC	0.522000													13	85					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364790	100364790	+	RNA	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100364790C>T	ENST00000542585.1	+	0	4918				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_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)			ACGAGAACCGCGGGGGGATCC	0.572000													14	63					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044656	43044656	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:43044656G>A	ENST00000267890.6	-	14	2896	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	930					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATATCCTTCCGGGTTGGGGCA	0.433000													6	122					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446159	49446159	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:49446159G>A	ENST00000374201.3	-	8	1098	c.796C>T	c.(796-798)Cca>Tca	p.P266S	FRMPD2_ENST00000407470.4_Missense_Mutation_p.P235S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.P242S	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	266					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)		TCTGCTCCTGGAAGAGCGCTG	0.617000													12	68					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692686	100692686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:100692686C>T	ENST00000259456.3	-	4	1134	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	331					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAATTTCGTTACATGTT	0.358000													20	170					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154938691	154938691	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:154938691A>G	ENST00000448116.2	-	9	1419	c.1199T>C	c.(1198-1200)gTt>gCt	p.V400A	SHC1_ENST00000368445.5_Missense_Mutation_p.V400A|SHC1_ENST00000368449.4_Missense_Mutation_p.V171A|SHC1_ENST00000606391.1_Missense_Mutation_p.V201A|SHC1_ENST00000368450.1_Missense_Mutation_p.V290A|SHC1_ENST00000368453.4_Missense_Mutation_p.V290A	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	400	CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	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)			ATCTCCCCCAACAGGCTGTCC	0.582000													4	38					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025015	130025015	+	Silent	SNP	G	G	A	rs34843162	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:130025015G>A	ENST00000011292.3	+	8	966	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CPA1_ENST00000484324.1_Silent_p.S184S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	272					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACCCCTGCTCGGAGACTTACC	0.552000													23	98					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237669	140237669	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140237669C>T	ENST00000307360.5	+	1	2036	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCTCGTCGCGGGCTTCA	0.662000													11	90					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18303562	18303562	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:18303562G>A	ENST00000396253.3	-	21	3384	c.2922C>T	c.(2920-2922)gcC>gcT	p.A974A	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Silent_p.A1088A|HPS5_ENST00000537258.1_Silent_p.A195A|HPS5_ENST00000438420.2_Silent_p.A974A	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1088						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAACTCAAGGGCCAGACCAC	0.507000									Hermansky-Pudlak syndrome				9	156					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412733	179412733	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:179412733T>C	ENST00000589042.1	-	339	93844	c.93620A>G	c.(93619-93621)aAg>aGg	p.K31207R	TTN_ENST00000342175.6_Missense_Mutation_p.K22334R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K22142R|TTN_ENST00000342992.6_Missense_Mutation_p.K28639R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K29566R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K22267R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29566	Fibronectin type-III 127.						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)			TTGAGGCTCCTTAATGATGAC	0.448000													8	95					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414169	157414169	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:157414169G>A	ENST00000389413.3	-	14	2245	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	PTPRN2_ENST00000389416.4_Silent_p.N726N|PTPRN2_ENST00000389418.4_Silent_p.N743N|PTPRN2_ENST00000409483.1_Silent_p.N705N|PTPRN2_ENST00000404321.2_Silent_p.N766N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	743						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)		TCTCCAGCCGGTTCTTGTTCT	0.612000													72	396					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42826253	42826253	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:42826253G>A	ENST00000372970.2	-	6	498	c.318C>T	c.(316-318)ctC>ctT	p.L106L	OSER1_ENST00000255174.2_Silent_p.L106L					oxidative stress responsive serine-rich 1																		TTTTGTGCTTGAGTTGACTGC	0.483000													10	142					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895343	42895343	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:42895343C>T	ENST00000399770.2	+	1	60	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	20					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGTTTCGGATCGCGTCCTCTC	0.507000													21	161					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463759	5463759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:5463759C>T	ENST00000296564.7	+	13	4534	c.4312C>T	c.(4312-4314)Cag>Tag	p.Q1438*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1438										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						ACATGTGGACCAGGTCACACT	0.463000													8	116					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874870	10874870	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:10874870C>T	ENST00000379491.4	-	5	1026	c.879G>A	c.(877-879)aaG>aaA	p.K293K	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	293					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGGAATCCTTATAAAGGG	0.413000													12	336					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:102292953T>C	ENST00000561463.1	+	0	999																											GGCACAGCGGTGCGACGAGAT	0.587000													3	11					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090712	34090712	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:34090712G>A	ENST00000373381.4	-	34	5615	c.5439C>T	c.(5437-5439)atC>atT	p.I1813I	CSMD2_ENST00000373380.1_Silent_p.I686I|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1773	CUB 11.					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)				GGAGGCACTCGATCTCTGGCG	0.657000													8	110					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23709002	23709002	+	Missense_Mutation	SNP	C	C	T	rs146703503		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:23709002C>T	ENST00000290271.2	-	3	587	c.304G>A	c.(304-306)Ggg>Agg	p.G102R	STC1_ENST00000524323.1_Missense_Mutation_p.G33R	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	102					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGGTGACCCCGTTGGCGATG	0.517000													12	79					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827627	31827627	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:31827627C>T	ENST00000354297.4	+	4	410	c.339C>T	c.(337-339)ccC>ccT	p.P113P	BPIFA1_ENST00000375422.2_Silent_p.P113P|BPIFA1_ENST00000375413.4_Silent_p.P113P	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	113					innate immune response	extracellular region	lipid binding										TCACTGACCCCCAGCTGCTGG	0.517000													19	376					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46033816	46033816	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:46033816C>T	ENST00000372070.3	+	6	1266	c.519C>T	c.(517-519)ctC>ctT	p.L173L	AKR1A1_ENST00000351829.4_Silent_p.L173L	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	173					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					ATGACATACTCAGTGTGGCCT	0.567000													5	38					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218716	49218716	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:49218716C>T	ENST00000327979.2	-	13	1951	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	FAM65C_ENST00000045083.2_Missense_Mutation_p.E514K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E518K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	514										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGCCCCTCGAGGGCCACG	0.697000													8	35					0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130828906	130828906	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:130828906C>T	ENST00000373078.4	-	1	694	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	159					apoptosis|induction of apoptosis	nucleus		p.A159T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTGCGGTGGCCGAGGGTCCG	0.657000													18	55					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42192053	42192053	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:42192053G>A	ENST00000006724.3	-	1	243	c.42C>T	c.(40-42)ccC>ccT	p.P14P	CEACAM7_ENST00000401731.1_Silent_p.P14P|CEACAM7_ENST00000602225.1_Silent_p.P14P|CEACAM7_ENST00000338196.4_Silent_p.P14P|CEACAM7_ENST00000599715.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	14						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GCCCCTGCCAGGGAATGCACA	0.627000													4	62					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777981	3777981	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:3777981G>A	ENST00000262367.5	-	31	7876	c.7067C>T	c.(7066-7068)tCc>tTc	p.S2356F	CREBBP_ENST00000382070.3_Missense_Mutation_p.S2318F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2356					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)		TGGAGGCTGGGACTGGGGCCG	0.667000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						17	119					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653413	19653413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:19653413C>T	ENST00000284885.3	-	22	2645	c.2612G>A	c.(2611-2613)cGa>cAa	p.R871Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	871	Peptidase S1.				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						GTCCTTTCTTCGCCTATTGTA	0.363000													12	159					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8587408	8587408	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:8587408C>T	ENST00000338257.8	-	27	3340	c.3073G>A	c.(3073-3075)Ggg>Agg	p.G1025R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1025						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGCCGTTGCCCCACGCTGCGC	0.672000													3	33					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142258998	142258998	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:142258998C>T	ENST00000378004.3	+	4	727	c.372C>T	c.(370-372)atC>atT	p.I124I	ARHGAP26_ENST00000274498.4_Silent_p.I124I	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	124					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGAACAGATCGGGGCTGCCA	0.438000													16	123					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43938288	43938288	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:43938288C>T	ENST00000343694.3	+	3	285	c.213C>T	c.(211-213)atC>atT	p.I71I	RBPJL_ENST00000372743.1_Silent_p.I71I|RBPJL_ENST00000372741.3_Silent_p.I71I	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	71					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTGTGCGGATCCTGCATGCCA	0.607000													6	61					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140358635	140358635	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:140358635G>A	ENST00000406427.1	-	28	3505	c.3169C>T	c.(3169-3171)Cct>Tct	p.P1057S	PNPLA7_ENST00000371457.1_Missense_Mutation_p.P638S|PNPLA7_ENST00000277531.4_Missense_Mutation_p.P1032S|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1032	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCGAAATAAGGAATCCACAGG	0.672000													4	56					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259514	22259514	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:22259514C>T	ENST00000344041.6	-	9	820	c.508G>A	c.(508-510)Gac>Aac	p.D170N	RAPGEF5_ENST00000405243.1_Missense_Mutation_p.D323N|RAPGEF5_ENST00000475788.1_5'UTR	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTTTTTTGTCCGTCTGCAAA	0.443000													11	63					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009500	46009500	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:46009500C>T	ENST00000296137.2	-	8	1531	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R	FYCO1_ENST00000535325.1_Silent_p.R442R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	442					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCAGGCTGGCCCGGGCATCCT	0.612000													29	391					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21878027	21878027	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:21878027G>A	ENST00000399982.2	-	10	2411	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.P783S|CHD8_ENST00000430710.3_Missense_Mutation_p.P504S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	783	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGAGTTCTGGGTGCCTTGAC	0.373000													6	76					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30749159	30749159	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:30749159C>T	ENST00000217315.5	+	17	2059	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	TM9SF4_ENST00000398022.2_Silent_p.F590F			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	590						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTTTATTTCGTTAACAAGG	0.502000													4	68					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216168	11216168	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:11216168C>T	ENST00000558518.1	+	4	773	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	LDLR_ENST00000535915.1_Missense_Mutation_p.P155S|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.P196S|LDLR_ENST00000558013.1_Missense_Mutation_p.P196S|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	196	LDL-receptor class A 5.				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.?(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)	GGACAGTAGCCCCTGCTCGGC	0.622000													11	86					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480138	10480138	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:10480138G>A	ENST00000382483.3	-	2	797	c.574C>T	c.(574-576)Cct>Tct	p.P192S	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	192					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)		TGCTTCACAGGAAAGCGCAGG	0.522000													21	233					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769552	112769552	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:112769552C>T	ENST00000390666.3	-	1	1176	c.985G>A	c.(985-987)Gag>Aag	p.E329K	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	329					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)		GCTGTCCCCTCGGGTTTTGTC	0.617000													6	26					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153224030	153224030	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:153224030G>A	ENST00000310441.7	-	10	2759	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	HCFC1_ENST00000369984.4_Missense_Mutation_p.S598L|HCFC1_ENST00000354233.3_Missense_Mutation_p.S529L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	598					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGACTGGCGAGGAGGCCAC	0.602000													27	257					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267817	103267817	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:103267817C>T	ENST00000217926.5	-	1	442	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	139					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.R139Q(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CACAGCCATCCGGGTCTCCCA	0.642000													6	70					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559218	129559218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:129559218C>T	ENST00000422113.2	-	9	2828	c.2502G>A	c.(2500-2502)tgG>tgA	p.W834*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.W372*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	834						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)		CCTGACTCCCCCATTCCTGCG	0.542000													6	102					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126716130	126716130	+	Missense_Mutation	SNP	C	C	T	rs148362463		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:126716130C>T	ENST00000309035.6	-	1	329	c.199G>A	c.(199-201)Gag>Aag	p.E67K	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGTAGGGCTCGGCGGCCACG	0.602000													9	98					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15134070	15134070	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:15134070G>A	ENST00000379554.3	+	1	101	c.55G>A	c.(55-57)Ggt>Agt	p.G19S		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	19					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						AGGTGGCTGGGGTCTATGGGG	0.607000													7	52					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223504379	223504379	+	Silent	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:223504379A>G	ENST00000281828.6	-	5	638	c.375T>C	c.(373-375)gtT>gtC	p.V125V	FARSB_ENST00000536361.1_Silent_p.V26V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	125					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATTACGGAGAACTGCTGCTA	0.333000													10	56					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5624860	5624860	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:5624860C>T	ENST00000380097.3	+	2	644	c.402C>T	c.(400-402)ctC>ctT	p.L134L	TRIM6_ENST00000278302.5_Silent_p.L106L|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L134L|TRIM6_ENST00000380107.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000507320.1_5'UTR	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACTGCAGCTCTTCTGTCAGG	0.557000													6	129					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153475610	153475610	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:153475610C>T	ENST00000288670.9	+	14	1932	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	522					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						GGGGCCGCTTCCTCAGGACCC	0.572000													4	65					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	251119	251119	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:251119C>T	ENST00000264932.6	+	12	1679	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.H474Y	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	522					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AATGCAAAATCATGCTGCCGT	0.438000									Familial Paragangliomas				9	198					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53009975	53009975	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:53009975C>T	ENST00000305748.3	-	2	671	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	213	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E213*(1)		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)		TCCACCACTTCGCGCACGCTC	0.627000													23	170					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073304	74073304	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:74073304C>T	ENST00000329003.3	+	2	1046	c.956C>T	c.(955-957)tCg>tTg	p.S319L		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	319					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCCGAGCCTCGGGCCGTGTG	0.701000													3	13					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281894	152281894	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152281894C>T	ENST00000368799.1	-	3	5503	c.5468G>A	c.(5467-5469)gGa>gAa	p.G1823E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1823	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1823V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGCCTTCCTCCTCTGCT	0.582000									Ichthyosis				29	869					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934475	56934475	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56934475C>T	ENST00000333201.9	+	5	658	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ZNF583_ENST00000291598.7_Missense_Mutation_p.L150F	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TAAAGAAATCCTTCCAGAAGT	0.363000													9	93					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38894457	38894457	+	Silent	SNP	C	C	T	rs148438451		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:38894457C>T	ENST00000396821.3	-	4	759	c.660G>A	c.(658-660)ggG>ggA	p.G220G	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Silent_p.G141G	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	141	Helicase ATP-binding.				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)					CCAACGTCTTCCCAGAGCCAG	0.458000													14	122					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34818928	34818928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:34818928G>A	ENST00000299505.6	+	6	1849	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	326										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGCAGACGGGGCGGAGGCA	0.597000													8	196					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	55					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303222	151303222	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:151303222G>A	ENST00000370323.4	-	4	1187	c.871C>T	c.(871-873)Cct>Tct	p.P291S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P291S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	291	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACCGTGCAGGATCACTGCCA	0.522000													24	251					0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86822195	86822195	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:86822195C>G	ENST00000359242.3	-	14	1731	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	ODF2L_ENST00000317336.7_Missense_Mutation_p.E484Q|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.E455Q|ODF2L_ENST00000370567.1_Missense_Mutation_p.E455Q|ODF2L_ENST00000394731.1_Missense_Mutation_p.E324Q|ODF2L_ENST00000370566.3_Intron	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	484						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TGCAGACTCTCCTGACACTCG	0.557000													13	102					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100231953	100231953	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:100231953C>T	ENST00000305046.8	-	8	1139	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E318K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	358					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAAATCCTTCATTTATTTTT	0.348000													6	72					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279951	152279951	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152279951C>T	ENST00000368799.1	-	3	7446	c.7411G>A	c.(7411-7413)Gga>Aga	p.G2471R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2471	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)			TGCCTTCCTCCACTGCTTGAC	0.567000									Ichthyosis				113	791					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233243721	233243721	+	Silent	SNP	C	C	T	rs144266383		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:233243721C>T	ENST00000392027.2	+	2	386	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	39						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)		GCGAGGCAGCCGAGGCCCTGG	0.642000													14	137					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112691908	112691908	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:112691908T>C	ENST00000550722.1	-	22	3343	c.2948A>G	c.(2947-2949)aAc>aGc	p.N983S	HECTD4_ENST00000377560.5_Missense_Mutation_p.N947S|HECTD4_ENST00000430131.2_Missense_Mutation_p.N697S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCCCAGTGTGTTGCCTCCATA	0.413000													11	105					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113400697	113400697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:113400697C>T	ENST00000228928.7	+	9	2253	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	692	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGCCAGCTTCGAAAACCCAG	0.567000													46	381					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156764950	156764950	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:156764950G>A	ENST00000537611.2	-	5	790	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	248						integral to membrane|plasma membrane											CAGCATCAACGAAACCAAGGG	0.413000													7	79					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807159	143807159	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:143807159C>T	ENST00000408979.2	+	1	553	c.484C>T	c.(484-486)Ctt>Ttt	p.L162F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGAAATTCTCCTTCTAAGGTT	0.527000													14	179					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216270537	216270537	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:216270537C>T	ENST00000366943.2	-	22	5032	c.4646G>A	c.(4645-4647)cGa>cAa	p.R1549Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R1549Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1549	Laminin G-like 1.				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)		CACTTTTGTTCGAAAGCTGGC	0.388000										HNSCC(13;0.011)			8	60					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32466592	32466592	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:32466592C>T	ENST00000357033.4	-	27	3973	c.3767G>A	c.(3766-3768)gGg>gAg	p.G1256E	DMD_ENST00000378677.2_Missense_Mutation_p.G1252E	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1256					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTGCATTTCCCATTCAGCCT	0.423000													21	124					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153451	101153451	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:101153451G>A	ENST00000428847.2	-	2	1347	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	344					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGAATCTTCTGATTTCTCCAA	0.428000													16	116					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702583	30702583	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:30702583G>A	ENST00000256246.2	-	1	4025	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1317										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)		GGCCCATAAGGAAGTTTCCTG	0.373000													8	106					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51390787	51390787	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:51390787C>T	ENST00000216392.7	-	5	892	c.560G>A	c.(559-561)gGa>gAa	p.G187E	PYGL_ENST00000532462.1_Missense_Mutation_p.G187E|PYGL_ENST00000544180.2_Missense_Mutation_p.G153E	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	187					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCAAGGGTTTCCATATCTGAG	0.423000													7	107					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892536	17892536	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:17892536C>T	ENST00000594202.1	+	23	2123	c.1844C>T	c.(1843-1845)cCg>cTg	p.P615L	FCHO1_ENST00000595033.1_Missense_Mutation_p.P565L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P615L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P615L|FCHO1_ENST00000389133.4_Missense_Mutation_p.P615L|FCHO1_ENST00000600676.1_Missense_Mutation_p.P615L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P622L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P615L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P615L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	615										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCCCGGGGTCCGAGCCCTGTG	0.627000													15	190					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197090573	197090573	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:197090573G>A	ENST00000260983.2	-	23	4121	c.3939C>T	c.(3937-3939)atC>atT	p.I1313I	HECW2_ENST00000409111.1_Silent_p.I957I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1313	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAAGACCAAGGATCCTACCAC	0.423000													8	61					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471225	31471225	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:31471225A>G	ENST00000457010.2	+	1	1081	c.380A>G	c.(379-381)aAg>aGg	p.K127R	ARMC5_ENST00000563544.1_Missense_Mutation_p.K127R|ARMC5_ENST00000538189.1_Missense_Mutation_p.K159R|ARMC5_ENST00000268314.4_Missense_Mutation_p.K127R|ARMC5_ENST00000408912.3_Missense_Mutation_p.K222R	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	127							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCTGCGCAAGACGCTGGAC	0.687000													4	65					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185643322	185643322	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:185643322C>T	ENST00000453386.2	-	3	538	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	88	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ACGATAATCTCGACTGTAAGA	0.522000													5	111					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	287741	287741	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:287741C>T	ENST00000269812.3	-	3	264	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PPAP2C_ENST00000434325.2_Missense_Mutation_p.G16E|PPAP2C_ENST00000327790.3_Missense_Mutation_p.G93E	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	72					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTAGGCTTCCCCGGCCGAGAC	0.637000													13	375					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136395	21136395	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:21136395G>A	ENST00000269228.5	-	8	1692	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	NPC1_ENST00000412552.2_Missense_Mutation_p.L130F|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	380			L -> F (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCTGACCAGAGGTCAACTGGA	0.572000													8	59					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768801	140768801	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140768801C>T	ENST00000519479.1	+	1	1350	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGTTTTCTCACAGTCTT	0.547000													14	230					0	0	1	0	0
MT1DP	326343	broad.mit.edu	37	16	56678689	56678689	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:56678689G>A	ENST00000463480.2	+	0	182																											AAGGGGCATTGGAGAAGTGCA	0.527000													9	80					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452616	123452616	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:123452616C>T	ENST00000360772.3	-	11	1605	c.1227G>A	c.(1225-1227)agG>agA	p.R409R	MYLK_ENST00000475616.1_Silent_p.R409R|MYLK_ENST00000360304.3_Silent_p.R409R|MYLK_ENST00000359169.1_Silent_p.R409R|MYLK_ENST00000346322.5_Silent_p.R409R			Q15746	MYLK_HUMAN	myosin light chain kinase	409					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGCTGAATCCCTCTGGCCCT	0.542000													8	159					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680049	33680049	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:33680049C>T	ENST00000394566.1	-	7	2304	c.2032G>A	c.(2032-2034)Ggg>Agg	p.G678R	SLFN11_ENST00000308377.4_Missense_Mutation_p.G678R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	678						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACCAGTCCCCATCTTCAGTA	0.468000													15	261					0	0	1	0	0
RAB4A	5867	broad.mit.edu	37	1	229433301	229433301	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:229433301C>T	ENST00000366690.4	+	5	571	c.363C>T	c.(361-363)atC>atT	p.I121I	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	116							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				ACATTGTGATCATCCTTTGTG	0.413000													17	152					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112600868	112600868	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:112600868G>A	ENST00000550722.1	-	75	13055	c.12660C>T	c.(12658-12660)atC>atT	p.I4220I	HECTD4_ENST00000377560.5_Silent_p.I4194I|HECTD4_ENST00000430131.2_Silent_p.I3944I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGGGGGGGCGATCTTCATGG	0.627000													19	151					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986599	20986599	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:20986599C>T	ENST00000261383.3	-	51	8214	c.8215G>A	c.(8215-8217)Gaa>Aaa	p.E2739K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2739	Stalk (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)		GCTTCTTTTTCATCTGCCTGC	0.483000													15	288					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52841142	52841142	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:52841142C>T	ENST00000252252.3	-	9	1574	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	509	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TTCCTCCACCCAGGCCTAAGC	0.627000													8	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069097	9069097	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:9069097C>T	ENST00000397910.4	-	3	18552	c.18349G>A	c.(18349-18351)Gat>Aat	p.D6117N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D6117Y(2)|p.D1750Y(1)		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						AATGTAGGATCATAGTAGGTG	0.493000													3	41					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14513596	14513596	+	Silent	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:14513596A>G	ENST00000242786.5	+	12	1451	c.1371A>G	c.(1369-1371)gaA>gaG	p.E457E	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.E364E|CD97_ENST00000357355.3_Silent_p.E408E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	457					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACACCAAGGAACTCAACTCCC	0.557000													17	129					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031024	32031024	+	Silent	SNP	C	C	T	rs4449357	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:32031024C>T	ENST00000360311.4	+	2	1002	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						ACAAGCCTATCAAAGATCAGC	0.398000													6	109					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156105792	156105792	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:156105792C>T	ENST00000368300.4	+	6	1249	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	LMNA_ENST00000347559.2_Missense_Mutation_p.A346V|LMNA_ENST00000448611.2_Missense_Mutation_p.A234V|LMNA_ENST00000368299.3_Missense_Mutation_p.A346V|LMNA_ENST00000392353.3_Missense_Mutation_p.A265V|LMNA_ENST00000368297.1_Missense_Mutation_p.A265V|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.A346V|LMNA_ENST00000368301.2_Missense_Mutation_p.A346V|LMNA_ENST00000473598.2_Missense_Mutation_p.A247V	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	346	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGGAGATGGCCGAGATGCGG	0.647000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				7	67					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183664489	183664489	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:183664489C>T	ENST00000511685.1	+	19	3669	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.I1182I					teneurin transmembrane protein 3																		CTTGTGGGATCGATGGCAGTC	0.498000													9	92					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123679136	123679136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:123679136C>T	ENST00000606320.1	-	13	2244	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E528K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E528K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E650K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	528					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTGAAGCGTTCTCTCAAATCA	0.378000													3	39					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874603	35874603	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:35874603C>T	ENST00000303115.3	+	6	888	c.759C>T	c.(757-759)gtC>gtT	p.V253V	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	253					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.S252_A254>WN(1)|p.F250_V253>PLGE(1)|p.V253_A254insVLC(1)|p.V253V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTTTCTCTGTCGCTCTGTTGG	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						9	112					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113447	94113447	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:94113447G>A	ENST00000243673.2	-	4	1311	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	GPR83_ENST00000539203.2_Silent_p.S338S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	380						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCACCCTGAAGGAAGGAACTG	0.562000													11	111					0	0	1	0	0
AC005754.7	0	broad.mit.edu	37	5	140480173	140480173	+	RNA	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140480173C>T	ENST00000607216.1	-	0	236																											AAGACTGTTTCCCAGCTCTGT	0.527000													4	40					0	0	1	0	0
CHMP6	79643	broad.mit.edu	37	17	78971075	78971075	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:78971075C>T	ENST00000325167.5	+	6	507	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	143					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TAGACGAGCTCCTGGCAGGAA	0.622000													12	48					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36327301	36327301	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:36327301C>T	ENST00000242108.4	+	6	1948	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	EEPD1_ENST00000534978.1_Silent_p.L410L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	410					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCCTGACCCTCCTGGGGAGCG	0.547000													14	155					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030808	69030808	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:69030808C>T	ENST00000288368.4	+	27	3627	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F		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	1117					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						AATAGGAATTCCATCGCCTCC	0.478000													6	171					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995659	140995659	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:140995659G>A	ENST00000285879.4	+	4	2755	c.2469G>A	c.(2467-2469)tcG>tcA	p.S823S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	823							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)					CCACTTCATCGAGTCTTTCCC	0.557000										HNSCC(15;0.026)			51	370					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88116637	88116637	+	Missense_Mutation	SNP	T	T	C	rs140096013	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:88116637T>C	ENST00000273963.5	-	2	396	c.55A>G	c.(55-57)Aaa>Gaa	p.K19E	KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000498875.2_Missense_Mutation_p.K19E|KLHL8_ENST00000425278.2_Missense_Mutation_p.K19E|KLHL8_ENST00000512111.1_Missense_Mutation_p.K19E	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	19										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTGCCTTTTCCCCTTTGTA	0.368000													5	109					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894722	145894722	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:145894722C>T	ENST00000311104.2	-	1	1031	c.955G>A	c.(955-957)Ggt>Agt	p.G319S		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCATACACCTTTCAAGCCT	0.448000													5	56					0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105696467	105696467	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:105696467C>T	ENST00000258455.3	+	5	546	c.436C>T	c.(436-438)Cca>Tca	p.P146S		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	146					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGATGGCCGTCCATTTCACTA	0.343000													10	78					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100696311	100696311	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100696311A>G	ENST00000306151.4	+	10	13212	c.13148A>G	c.(13147-13149)aAc>aGc	p.N4383S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4383						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)					GAGACCTGTAACCAGGGCACC	0.597000													7	108					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796837	42796837	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:42796837C>T	ENST00000314073.5	+	6	942	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H256Y					GLTSCR1-like																		GCTCCTGGTTCATAGACAGAC	0.448000													15	119					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69378955	69378955	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:69378955G>A	ENST00000193403.6	-	4	728	c.345C>T	c.(343-345)atC>atT	p.I115I	ACTN1_ENST00000538545.2_Silent_p.I115I|ACTN1_ENST00000394419.4_Silent_p.I115I|ACTN1_ENST00000376839.3_Silent_p.I50I|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000438964.2_Silent_p.I115I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	115	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCCATCCACGATTTCTACAG	0.542000											OREG0022758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	142					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702188	81702188	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:81702188C>T	ENST00000372292.3	-	4	429	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	130	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GCCCTGAGGTCCTATGTTCCC	0.612000													11	63					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903059	40903059	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:40903059G>A	ENST00000324001.7	-	7	1470	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	400					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)			GGGGCTCCAAGAGGGAAAGCC	0.607000													14	177					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100352132	100352132	+	Silent	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:100352132T>C	ENST00000273352.3	+	4	626	c.358T>C	c.(358-360)Ttg>Ctg	p.L120L		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	120					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGCAGTCCGGTTGTGCAGTCT	0.313000													4	51					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420737	1420737	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:1420737C>T	ENST00000270349.9	-	6	1001	c.874G>A	c.(874-876)Gac>Aac	p.D292N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D292N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	292					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTGATGCCGTCTATGGCTCCA	0.597000													13	152					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139732	142139732	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:142139732G>A	ENST00000390374.3	-	0	83																											CTGTCCCTAGGAAACCCAGGA	0.532000													12	119					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926530	22926530	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:22926530G>A	ENST00000261374.3	+	2	1185	c.751G>A	c.(751-753)Ggc>Agc	p.G251S		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	251						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CATCCGCATCGGCATGTACGT	0.622000													23	170					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216824393	216824393	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:216824393C>T	ENST00000391890.3	-	5	959	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	ESRRG_ENST00000366937.1_Missense_Mutation_p.E176K|ESRRG_ENST00000359162.2_Missense_Mutation_p.E148K|ESRRG_ENST00000366940.2_Missense_Mutation_p.E148K|ESRRG_ENST00000487276.1_Missense_Mutation_p.E148K|ESRRG_ENST00000408911.3_Missense_Mutation_p.E171K|ESRRG_ENST00000493748.1_Missense_Mutation_p.E148K|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000493603.1_Missense_Mutation_p.E148K|ESRRG_ENST00000366938.2_Missense_Mutation_p.E148K|ESRRG_ENST00000360012.3_Missense_Mutation_p.E148K|ESRRG_ENST00000361525.3_Missense_Mutation_p.E148K|ESRRG_ENST00000361395.2_Missense_Mutation_p.E148K	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	171					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTTGTGATTTCACATTCATTC	0.433000													9	133					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571352	30571352	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:30571352G>A	ENST00000376511.2	-	16	2216	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	555	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CAGAACTGGAGGCAACTTGGA	0.562000													21	262					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872957	55872957	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:55872957G>A	ENST00000313503.1	+	1	439	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCTCATCACTGGGCCTTATGT	0.453000										HNSCC(53;0.14)			20	311					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516652	102516652	+	RNA	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:102516652C>T	ENST00000557932.1	+	0	1600																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GCGGGGACTTCTGTCTGCCTG	0.592000													4	4					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86389376	86389376	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:86389376G>A	ENST00000285379.5	+	6	765	c.535G>A	c.(535-537)Gat>Aat	p.D179N		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	179				DP -> AA (in Ref. 6; AAH11949).	one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACTAACTTCGATCCTCGTGG	0.507000													21	238					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932727	44932727	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:44932727G>A	ENST00000291187.4	-	6	2533	c.2211C>T	c.(2209-2211)caC>caT	p.H737H	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.H743H	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	743					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)				TCCCACACACGTGGCATCTGT	0.498000													10	84					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22141766	22141766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:22141766C>T	ENST00000356766.6	+	6	872	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.Q242*|PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q242*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	242					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGCAGTTTATCAATATCATGT	0.358000													6	55					0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49455912	49455912	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:49455912C>T	ENST00000376150.3	-	4	364	c.232G>A	c.(232-234)Ggt>Agt	p.G78S		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	78					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GTATCAGGACCATCTCCAAGC	0.468000													7	95					0	0	1	0	0
MFRP	83552	broad.mit.edu	37	11	119217021	119217021	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:119217021G>A	ENST00000555262.1	-	2	277	c.118C>T	c.(118-120)Cca>Tca	p.P40S	MFRP_ENST00000360167.4_Missense_Mutation_p.P40S|MFRP_ENST00000530681.1_Missense_Mutation_p.P40S|MFRP_ENST00000529147.1_Intron|MFRP_ENST00000449574.2_Missense_Mutation_p.P40S|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCATCCTCTGGGAAAACTGGG	0.632000													6	32					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25149226	25149226	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:25149226C>T	ENST00000549828.1	-	2	255	c.51G>A	c.(49-51)aaG>aaA	p.K17K	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	17										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGGCTTCCTTTATGACTA	0.423000													6	76					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044538	75044538	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:75044538C>T	ENST00000343932.4	+	5	1179	c.1116C>T	c.(1114-1116)atC>atT	p.I372I		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	372					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGGCCTTCATCCTGGAGACCT	0.602000													21	236					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859549	189859549	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:189859549G>A	ENST00000304636.3	+	20	1617	c.1447G>A	c.(1447-1449)Gga>Aga	p.G483R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G483R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	483	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAGCTGCAGGAGAAAGGGT	0.483000													6	117					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677347	64677347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:64677347G>A	ENST00000421419.2	-	14	2027	c.1913C>T	c.(1912-1914)gCa>gTa	p.A638V	ATG2A_ENST00000377264.3_Missense_Mutation_p.A638V			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	638							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCCCGGGGTGCAGAGAGCCG	0.711000													11	96					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439343	150439343	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:150439343G>A	ENST00000358647.3	+	3	483	c.116G>A	c.(115-117)gGg>gAg	p.G39E	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGGCTGCGGGAAAAGTGCC	0.507000													6	126					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73590734	73590734	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:73590734C>T	ENST00000339362.5	+	28	4394	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	NEO1_ENST00000261908.6_Missense_Mutation_p.S1316L|NEO1_ENST00000558964.1_Missense_Mutation_p.S1305L|NEO1_ENST00000560262.1_Missense_Mutation_p.S1263L			Q92859	NEO1_HUMAN	neogenin 1	1316					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGCCTCTTCGTCTCAAACA	0.493000													5	84					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701497	143701497	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:143701497G>A	ENST00000408922.2	+	1	476	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	136					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)					CAACCATAATGAGCCATGGGC	0.557000													11	130					0	0	1	0	0
NUDT15	55270	broad.mit.edu	37	13	48619797	48619797	+	Splice_Site	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr13:48619797T>C	ENST00000258662.2	+	3	537	c.355_splice	c.e3-1	p.S119_splice		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	119	Interaction with PCNA.|Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		CTTTTCTAGGTTGGGAGTGGG	0.358000													10	84					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588474	20588474	+	RNA	SNP	C	C	T	rs111409649	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:20588474C>T	ENST00000428453.1	-	0	4276																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGCAGTGTCCCCAGGACAC	0.483000													11	58					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168119658	168119658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:168119658G>A	ENST00000519560.1	-	29	3549	c.3130C>T	c.(3130-3132)Ctc>Ttc	p.L1044F	SLIT3_ENST00000404867.3_Missense_Mutation_p.L1044F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L1051F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1044	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTGACAGAGGTTCAGCTCA	0.572000													9	79					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516525	1516525	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:1516525G>A	ENST00000389470.4	-	37	5564	c.5565C>T	c.(5563-5565)ttC>ttT	p.F1855F	INTS1_ENST00000404767.3_Silent_p.F1656F			Q8N201	INT1_HUMAN	integrator complex subunit 1	1656					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGTAGGGACGGAACGAGGGCA	0.642000													5	21					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549454	56549454	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56549454C>T	ENST00000390649.3	+	10	2679	c.2679C>T	c.(2677-2679)tcC>tcT	p.S893S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	893						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)		TTACGACCTCCCCCAGCCTGA	0.547000													6	107					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150471474	150471474	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:150471474C>T	ENST00000369064.3	+	12	1537	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Silent_p.F419F|TARS2_ENST00000369054.2_Silent_p.F371F	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	501					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)	CATCTGGCTTCCTGGGGGACC	0.552000													14	158					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529114	57529114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:57529114G>A	ENST00000420713.1	+	4	1059	c.947G>A	c.(946-948)aGa>aAa	p.R316K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACCACAAGAGAATTCATACT	0.408000													10	44					0	0	1	0	0
CLDN11	5010	broad.mit.edu	37	3	170140979	170140979	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:170140979G>A	ENST00000064724.3	+	2	457	c.255G>A	c.(253-255)atG>atA	p.M85I	CLDN11_ENST00000486975.1_Missense_Mutation_p.M85I|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000451576.1_Missense_Mutation_p.M85I	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	85					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCGCCCTGATGATTGCTGCCT	0.607000													17	289					0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115148929	115148929	+	Missense_Mutation	SNP	C	C	T	rs147725758		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:115148929C>T	ENST00000250535.4	-	2	753	c.197G>A	c.(196-198)gGa>gAa	p.G66E	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	66					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.G66E(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	TTTTCCATTTCCTTGATCCAC	0.333000													8	67					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26775249	26775249	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:26775249G>A	ENST00000381340.3	-	25	3628	c.3212C>T	c.(3211-3213)cCt>cTt	p.P1071L	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1071					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)					AGACAGCAAAGGCGGGTAGTC	0.463000													5	64					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47082953	47082953	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:47082953C>T	ENST00000457458.2	+	2	435	c.15C>T	c.(13-15)atC>atT	p.I5I	CDK16_ENST00000276052.6_Silent_p.I73I|CDK16_ENST00000518022.1_5'UTR|CDK16_ENST00000357227.4_5'UTR	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	0							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TTGCTCAGATCGCCATGGATC	0.532000													4	40					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107964	35107964	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:35107964C>T	ENST00000378561.1	-	2	3363	c.308G>A	c.(307-309)gGc>gAc	p.G103D	FAM214B_ENST00000322813.5_Missense_Mutation_p.G103D|FAM214B_ENST00000605244.1_Missense_Mutation_p.G103D|FAM214B_ENST00000488109.2_Missense_Mutation_p.G103D|FAM214B_ENST00000603301.1_Missense_Mutation_p.G103D|FAM214B_ENST00000378557.1_Missense_Mutation_p.G103D|FAM214B_ENST00000378554.2_Missense_Mutation_p.G103D|FAM214B_ENST00000378566.1_Intron			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	103						nucleus											TCCCTCTGGGCCTAAGAGCCC	0.627000													13	93					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118365449	118365449	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:118365449C>T	ENST00000534358.1	+	18	5353	c.5330C>T	c.(5329-5331)tCc>tTc	p.S1777F	KMT2A_ENST00000354520.4_Missense_Mutation_p.S1736F|KMT2A_ENST00000389506.5_Missense_Mutation_p.S1774F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTCAAAAAGTCCAGGTTTTGG	0.328000													4	33					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140767861C>T	ENST00000519479.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAAAATTCCTTTGAGCTG	0.433000													7	53					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880320	26880320	+	RNA	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:26880320A>G	ENST00000412114.1	+	0	555					NR_026793.1																						GAAAAGGCCCAAACACATGCT	0.512000													3	48					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12989323	12989323	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:12989323G>A	ENST00000222219.3	-	5	674	c.582C>T	c.(580-582)ttC>ttT	p.F194F	DNASE2_ENST00000538460.1_Silent_p.F139F	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	194					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCAAGTCGGGGAATTCCTGGG	0.562000													8	70					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878339	151878339	+	Silent	SNP	T	T	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:151878339T>A	ENST00000355193.2	-	36	6824	c.6606A>T	c.(6604-6606)ccA>ccT	p.P2202P	KMT2C_ENST00000262189.6_Silent_p.P2202P					lysine (K)-specific methyltransferase 2C																		GATGAGCATATGGATCAGAAT	0.468000													8	104					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560884	44560884	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:44560884T>C	ENST00000332567.4	-	1	1104	c.752A>G	c.(751-753)gAg>gGg	p.E251G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	251					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						GCATGATTTCTCCCTGATCAA	0.567000													8	86					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113496033	113496033	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:113496033G>A	ENST00000257600.3	+	1	539	c.36G>A	c.(34-36)gtG>gtA	p.V12V		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	12					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGATGCCTGTGAATGGTCTGG	0.692000													3	41					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014438	114014438	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:114014438G>A	ENST00000481065.1	+	3	2924	c.309G>A	c.(307-309)gaG>gaA	p.E103E	TIGIT_ENST00000383671.3_Silent_p.E36E|TIGIT_ENST00000486257.1_Silent_p.E36E			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	36	Ig-like V-type.			T -> A (in Ref. 3; AAI01289).	negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TTTCTGCAGAGAAAGGTGGCT	0.522000													12	262					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55883624	55883624	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:55883624C>T	ENST00000521992.1	-	12	1567	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	CES5A_ENST00000518005.1_Silent_p.T339T|CES5A_ENST00000520435.1_Silent_p.T415T|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Silent_p.T445T|CES5A_ENST00000319165.9_Intron	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	445						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						AAGCTGGCTTCGTGTCTTCAA	0.537000													16	163					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337219	42337219	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:42337219G>A	ENST00000262418.6	-	7	722	c.567C>T	c.(565-567)ctC>ctT	p.L189L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	189					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGTGTTGGGGGAGCAGAGGCT	0.617000													29	110					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													5	2					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912638	150912638	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:150912638G>A	ENST00000329903.4	+	6	1696	c.1663G>A	c.(1663-1665)Gat>Aat	p.D555N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	555					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCAAGGATGATCTTATGGA	0.493000													25	252					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33288404	33288404	+	Silent	SNP	C	C	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:33288404C>A	ENST00000314144.5	-	1	124	c.9G>T	c.(7-9)gcG>gcT	p.A3A	CCT6B_ENST00000436961.3_Silent_p.A3A|CCT6B_ENST00000421975.3_Silent_p.A3A	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	3					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CGGCCTTTATCGCAGCCATAG	0.582000													12	107					5.50884e-06	5.54569e-06	1	1	0
OR2T10	127069	broad.mit.edu	37	1	248756679	248756679	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248756679G>A	ENST00000330500.2	-	1	421	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			ACAGAGTAACGGAGAGGATGG	0.562000													6	85					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158250217	158250217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:158250217G>A	ENST00000313708.6	-	8	1027	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	EBF1_ENST00000380654.4_Missense_Mutation_p.P226S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.P249S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	249					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCGAGGGGTCAAGCCTC	0.463000			T	HMGA2	lipoma								9	65					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1520694	1520694	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:1520694C>T	ENST00000345913.4	+	15	2649	c.2558C>T	c.(2557-2559)tCg>tTg	p.S853L	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.S680L|TPO_ENST00000382201.3_Missense_Mutation_p.S796L|TPO_ENST00000349624.3_Missense_Mutation_p.S680L|TPO_ENST00000346956.3_Missense_Mutation_p.S809L|TPO_ENST00000337415.3_Missense_Mutation_p.S853L|TPO_ENST00000329066.4_Missense_Mutation_p.S853L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	853					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)	ATCTCCATGTCGCTGGCTGCT	0.562000													7	69					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67786656	67786656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:67786656C>T	ENST00000358767.3	+	18	2684	c.2068C>T	c.(2068-2070)Cca>Tca	p.P690S	IQCH_ENST00000546225.1_Silent_p.I631I|IQCH_ENST00000360277.4_Missense_Mutation_p.P615S|IQCH_ENST00000335894.4_Silent_p.I974I|IQCH-AS1_ENST00000559298.1_lincRNA			Q86VS3	IQCH_HUMAN	IQ motif containing H	0										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCTTCATCATCCATCAAGAAA	0.408000													6	35					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8465751	8465751	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:8465751G>T	ENST00000389737.4	+	7	1243	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	TRMT44_ENST00000513449.2_Missense_Mutation_p.D174Y	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		CCTTTTCCCTGATGTTGATTG	0.423000													18	187					8.00594e-06	8.04604e-06	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262159	45262159	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:45262159G>A	ENST00000303230.4	-	8	2594	c.2537C>T	c.(2536-2538)tCg>tTg	p.S846L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	846						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						GGCTCCCGACGACATCTGTCG	0.647000													9	124					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20453564	20453564	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:20453564C>T	ENST00000202677.6	-	37	5546	c.5404G>A	c.(5404-5406)Gtg>Atg	p.V1802M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1802	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCCCACTCACTATGGCTCCA	0.428000													6	65					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497366	46497366	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:46497366C>T	ENST00000231751.4	-	4	714	c.419G>A	c.(418-420)aGg>aAg	p.R140K	LTF_ENST00000426532.2_Missense_Mutation_p.R96K|LTF_ENST00000417439.1_Missense_Mutation_p.R140K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	140	Transferrin-like 1.			Missing (in Ref. 13; AA sequence).	cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCCAGCGGTCCTGCGAAGGCC	0.557000													11	77					0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38809722	38809722	+	Silent	SNP	C	C	T	rs112121731		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:38809722C>T	ENST00000420274.1	+	7	759	c.525C>T	c.(523-525)tcC>tcT	p.S175S	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Silent_p.S175S	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	175					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			AGCCCGGGTCCCACACCATCC	0.592000													6	29					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304406	10304406	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10304406C>T	ENST00000403437.2	-	25	3305	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1071					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						TTTTCCATATCCATTGTGGAT	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				6	111					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5975492	5975492	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:5975492C>T	ENST00000531445.1	-	4	1770	c.1724G>A	c.(1723-1725)aGa>aAa	p.R575K	C4orf50_ENST00000324058.5_Missense_Mutation_p.R101K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	101										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CAGCCCATGTCTGTGCAGCTC	0.632000													6	114					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52439677	52439677	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:52439677G>A	ENST00000261837.7	-	6	538	c.473C>T	c.(472-474)tCg>tTg	p.S158L	GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Missense_Mutation_p.S116L	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	158						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGCACATCCCGATGGGGCATA	0.468000													16	135					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8620195	8620195	+	Missense_Mutation	SNP	G	G	A	rs138232433		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:8620195G>A	ENST00000429646.2	+	8	3160	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	CPZ_ENST00000360986.4_Missense_Mutation_p.G515S|CPZ_ENST00000382480.2_Missense_Mutation_p.G378S|CPZ_ENST00000315782.6_Missense_Mutation_p.G504S			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	515	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGATAAATTCGGCAAGCCAGT	0.607000													6	48					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721046	70721046	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:70721046C>T	ENST00000226444.3	-	3	356	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	82					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTTCTGCATTCCAGGAAAGGT	0.333000													5	37					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239179979	239179979	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:239179979G>A	ENST00000254657.3	-	6	1025	c.746C>T	c.(745-747)cCc>cTc	p.P249L	PER2_ENST00000254658.3_Missense_Mutation_p.P249L|PER2_ENST00000355768.2_Missense_Mutation_p.P249L|PER2_ENST00000440245.1_Missense_Mutation_p.P249L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	249					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCTCCACAAGGGAAGCTTGTA	0.577000													10	192					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886751	27886751	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:27886751G>A	ENST00000326019.6	+	1	414	c.132G>A	c.(130-132)aaG>aaA	p.K44K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	44						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGGTTTCGAAGGAGCGGATTT	0.572000													17	195					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121203990	121203990	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:121203990G>A	ENST00000264233.5	-	17	5799	c.5671C>T	c.(5671-5673)Ccc>Tcc	p.P1891S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1891					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)		CCTTTAATGGGAAATCCATCA	0.373000								DNA polymerases (catalytic subunits)					13	88					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844855	77844855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:77844855G>A	ENST00000216471.4	+	1	1380	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	365										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAGAGATAAGAAAGTCAAAT	0.378000													8	87					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11501681	11501681	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:11501681C>T	ENST00000423059.3	-	10	2709	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	820	TSP type-1 8.					integral to membrane		p.E820K(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCTTCTCTTCATAGAGGGGA	0.542000										HNSCC(18;0.044)			17	296					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142521128	142521128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:142521128G>A	ENST00000273482.6	+	9	1988	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	TRPC1_ENST00000476941.1_Missense_Mutation_p.E567K	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	567					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						TACTTCAAAGGAGCAGAAGGA	0.328000													4	41					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380904	147380904	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:147380904C>T	ENST00000240986.4	+	2	875	c.822C>T	c.(820-822)atC>atT	p.I274I	GJA8_ENST00000369235.1_Silent_p.I274I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	274					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AAGAGAAAATCGTTTCCCACT	0.537000													10	92					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646886	54646886	+	Silent	SNP	C	C	T	rs138664639		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:54646886C>T	ENST00000406403.1	+	2	1660	c.57C>T	c.(55-57)tcC>tcT	p.S19S	CNOT3_ENST00000221232.5_Silent_p.S19S|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	19					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGAAGGTGTCCGAGGGCGTGG	0.552000													12	284					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33608285	33608285	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:33608285G>A	ENST00000374316.5	+	3	1174	c.114G>A	c.(112-114)gtG>gtA	p.V38V	ITPR3_ENST00000605930.1_Silent_p.V38V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	38					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCTGTGTGGTGGAGCCCGCGG	0.637000													40	290					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155233163	155233163	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:155233163C>T	ENST00000424344.3	+	4	496	c.129C>T	c.(127-129)atC>atT	p.I43I	IL9R_ENST00000540897.1_Silent_p.I101I|IL9R_ENST00000369423.2_Silent_p.I111I|IL9R_ENST00000244174.5_Silent_p.I64I			Q01113	IL9R_HUMAN	interleukin 9 receptor	64					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					TTCTCAGGATCGATTGCCACT	0.597000													15	115					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496973	9496973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:9496973C>T	ENST00000246070.2	+	4	932	c.440C>T	c.(439-441)tCc>tTc	p.S147F	LAMP5_ENST00000427562.2_Missense_Mutation_p.S103F	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	147						integral to membrane											GTCTACGACTCCTCGGAGAAA	0.577000													10	133					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117032999	117032999	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:117032999C>T	ENST00000371876.1	-	6	4108	c.1687G>A	c.(1687-1689)Gat>Aat	p.D563N	KLHL13_ENST00000262820.3_Missense_Mutation_p.D614N|KLHL13_ENST00000540167.1_Missense_Mutation_p.D598N|KLHL13_ENST00000371878.1_Missense_Mutation_p.D563N|KLHL13_ENST00000545703.1_Missense_Mutation_p.D572N|KLHL13_ENST00000371882.1_Missense_Mutation_p.D563N|KLHL13_ENST00000539496.1_Missense_Mutation_p.D617N|KLHL13_ENST00000541812.1_Missense_Mutation_p.D598N|KLHL13_ENST00000469946.1_Missense_Mutation_p.D563N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	614					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCATTCATCTTTATCTGGA	0.428000													9	188					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24170996	24170996	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:24170996C>T	ENST00000265769.4	+	6	589	c.479C>T	c.(478-480)cCt>cTt	p.P160L	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.P160L|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Intron	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	160					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)		AAGTATAACCCTGATGAAAAG	0.473000													17	131					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356304	40356304	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:40356304G>A	ENST00000310169.2	+	5	1346	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	403					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTTAAAGAACGACCTGGGCTG	0.483000													9	78					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583542	7583542	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:7583542G>A	ENST00000379802.3	+	24	6388	c.6047G>A	c.(6046-6048)gGa>gAa	p.G2016E	DSP_ENST00000418664.2_Missense_Mutation_p.G1417E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2016	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)		CGGGGTGCAGGATCTATCGCT	0.453000													11	104					0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76798	76798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:76798C>T	ENST00000382410.2	+	2	211	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	71					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACCAGCATTTCCTGTGATTCA	0.363000													11	194					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505256	195505256	+	Silent	SNP	G	G	A	rs140469862		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:195505256G>A	ENST00000463781.3	-	3	13320	c.12861C>T	c.(12859-12861)tcC>tcT	p.S4287S	MUC4_ENST00000475231.1_Silent_p.S4287S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Silent_p.S51S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1044					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGATGGTCTGGGAGGTTGTGG	0.592000													5	78					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203180	140203180	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140203180C>T	ENST00000529859.1	+	1	1820	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S607L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S607L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGGCTTTCGTATGAGCTG	0.652000													21	104					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115024813	115024813	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:115024813G>A	ENST00000334318.6	-	6	697	c.511C>T	c.(511-513)Cct>Tct	p.P171S	PTBP3_ENST00000374255.2_Missense_Mutation_p.P168S|PTBP3_ENST00000374257.1_Missense_Mutation_p.P140S|PTBP3_ENST00000343327.2_Missense_Mutation_p.P73S|PTBP3_ENST00000458258.1_Missense_Mutation_p.P174S|PTBP3_ENST00000487997.1_5'UTR	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	168					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TCATTGGAAGGACCTCCAGAA	0.488000													5	115					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030121	79030121	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:79030121G>A	ENST00000446378.2	+	2	5564	c.5533G>A	c.(5533-5535)Gat>Aat	p.D1845N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1845						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCTTCTGAAGATAAACAAGA	0.368000													9	61					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262783	140262783	+	Silent	SNP	C	C	T	rs145698462		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140262783C>T	ENST00000289272.2	+	1	930	c.930C>T	c.(928-930)ttC>ttT	p.F310F	PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.F310F|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTAGATTTCGAAGAAAAGA	0.378000													12	96					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223009	44223009	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:44223009C>T	ENST00000244314.5	+	2	498	c.299C>T	c.(298-300)cCa>cTa	p.P100L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	100						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCGCCCTATCCACACCCACAG	0.647000													8	63					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629840	1629840	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:1629840C>T	ENST00000381580.1	-	2	368	c.189G>A	c.(187-189)aaG>aaA	p.K63K	SIRPG_ENST00000381583.2_Silent_p.K96K|SIRPG_ENST00000303415.3_Silent_p.K96K|SIRPG_ENST00000216927.4_Silent_p.K96K|SIRPG_ENST00000344103.4_Silent_p.K96K			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	96	Ig-like V-type.				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						TGTTGTTTCTCTTTGTGAGGT	0.493000													33	182					0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849256	110849256	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:110849256G>A	ENST00000272462.2	-	2	970	c.197C>T	c.(196-198)tCg>tTg	p.S66L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	66	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GATGAGAAACGAGGTGAGCGA	0.458000													7	159					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848257	73848257	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:73848257G>A	ENST00000523207.1	+	3	1255	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	223					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)			GGAAACGGACGAATTTGGACA	0.478000													7	196					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417102	130417102	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:130417102G>A	ENST00000370904.1	-	12	1687	c.777C>T	c.(775-777)tcC>tcT	p.S259S	IGSF1_ENST00000361420.3_Silent_p.S268S|IGSF1_ENST00000370910.1_Silent_p.S259S|IGSF1_ENST00000370903.3_Silent_p.S268S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	268	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTGGTAAAAGGACTTCTCCA	0.428000													9	128					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317042	203317042	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:203317042G>A	ENST00000354955.4	-	2	820	c.357C>T	c.(355-357)tcC>tcT	p.S119S	FMOD_ENST00000464898.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	119					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTTCCTGGATGGAGGTGATCT	0.542000													5	54					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	812724	812724	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:812724C>T	ENST00000566549.1	+	2	461	c.44C>T	c.(43-45)aCc>aTc	p.T15I	MSLN_ENST00000382862.3_Missense_Mutation_p.T15I|MSLN_ENST00000545450.2_Missense_Mutation_p.T15I|MSLN_ENST00000563941.1_Missense_Mutation_p.T15I			Q13421	MSLN_HUMAN	mesothelin	15				TPAL -> DRP (in Ref. 2; AAC50348).	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)				TCCTGTGGGACCCCCGCCCTC	0.687000													20	253					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166458	140166458	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140166458G>A	ENST00000504120.2	+	1	583	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E195K|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E195K	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)			TCTTTGGCTTGAATTGAGAAA	0.438000													13	102					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111430568	111430568	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:111430568G>A	ENST00000428084.1	-	31	3532	c.3260C>T	c.(3259-3261)cCa>cTa	p.P1087L	DOCK4_ENST00000437633.1_Missense_Mutation_p.P1087L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1087					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATGAAAAATTGGAATCATGAC	0.473000													4	59					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080253	29080253	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:29080253C>T	ENST00000377169.1	+	1	586	c.586C>T	c.(586-588)Cat>Tat	p.H196Y		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	196					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						TGTTGATACCCATGTCAATGA	0.463000													15	125					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73523279	73523279	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:73523279C>T	ENST00000418310.1	+	10	1389	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	LIMK1_ENST00000336180.2_Silent_p.F399F|LIMK1_ENST00000538333.3_Silent_p.F365F			P53667	LIMK1_HUMAN	LIM domain kinase 1	399	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGCTCAAGTTCATCGGGGTGC	0.602000													20	75					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45767374	45767374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:45767374C>T	ENST00000357450.4	-	14	2289	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E764K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	764					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTTGAAATTCTTTAATTCTT	0.294000													5	43					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991228	144991228	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:144991228G>A	ENST00000322810.4	-	32	13341	c.13172C>T	c.(13171-13173)tCc>tTc	p.S4391F	PLEC_ENST00000398774.2_Missense_Mutation_p.S4222F|PLEC_ENST00000527096.1_Missense_Mutation_p.S4277F|PLEC_ENST00000354958.2_Missense_Mutation_p.S4232F|PLEC_ENST00000345136.3_Missense_Mutation_p.S4254F|PLEC_ENST00000354589.3_Missense_Mutation_p.S4254F|PLEC_ENST00000356346.3_Missense_Mutation_p.S4240F|PLEC_ENST00000357649.2_Missense_Mutation_p.S4258F|PLEC_ENST00000436759.2_Missense_Mutation_p.S4281F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4391	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGTAGGAGGAGGAGGATCC	0.687000													5	73					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523587	23523587	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:23523587C>T	ENST00000305877.8	+	1	1191	c.440C>T	c.(439-441)cCc>cTc	p.P147L	BCR_ENST00000359540.3_Missense_Mutation_p.P147L|BCR_ENST00000398512.5_Missense_Mutation_p.P147L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	147	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						GACCGGGGACCCCCCGCCAGC	0.761000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90368365	90368365	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:90368365T>G	ENST00000405460.2	+	86	18350	c.18254T>G	c.(18253-18255)gTg>gGg	p.V6085G	GPR98_ENST00000425867.2_Missense_Mutation_p.V1746G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6085					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)		GCCTACCAGGTGAAGCCACAG	0.448000													39	198					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3683103	3683103	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:3683103C>T	ENST00000294600.2	+	9	1541	c.1457C>T	c.(1456-1458)tCc>tTc	p.S486F		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	486										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCCAGTTCTCCAACCTCCGA	0.493000													4	58					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19947234	19947234	+	Silent	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:19947234T>C	ENST00000295824.9	-	6	1457	c.1296A>G	c.(1294-1296)gcA>gcG	p.A432A	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Silent_p.A302A	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	432					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTCGGTTCTTTGCCTCTCCTG	0.388000													10	56					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14882838	14882838	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:14882838C>T	ENST00000398334.1	-	3	1062	c.795G>A	c.(793-795)ctG>ctA	p.L265L	FANCB_ENST00000324138.3_Silent_p.L265L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	265					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAAATGAAATCAGCTGATTCT	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	87					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523926	95523926	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:95523926G>A	ENST00000297591.5	-	13	2952	c.2877C>T	c.(2875-2877)gcC>gcT	p.A959A	KIAA1429_ENST00000437199.1_Silent_p.A959A|KIAA1429_ENST00000421249.2_Silent_p.A959A	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	959					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCTGAATAACGGCAAGATTCC	0.328000													4	62					0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141341091	141341091	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:141341091C>T	ENST00000355413.4	+	12	1030	c.770C>T	c.(769-771)cCt>cTt	p.P257L	AGK_ENST00000535825.1_Intron|AGK_ENST00000473247.1_Missense_Mutation_p.P229L	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	257					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TACACGGGACCTACAGAGAGA	0.468000													4	78					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325318	31325318	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:31325318G>A	ENST00000269197.5	+	12	5506	c.5506G>A	c.(5506-5508)Gga>Aga	p.G1836R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1836					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						TAGGACTGTAGGAGAACACAC	0.483000													39	326					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25436389	25436389	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:25436389G>A	ENST00000424208.1	+	0	984				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CCTTCCAGATGGTGACCCCAG	0.627000													4	51					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7574331	7574331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:7574331G>A	ENST00000379802.3	+	16	2484	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N	DSP_ENST00000418664.2_Missense_Mutation_p.D715N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	715	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)		TGTGCAGAATGATTCACAAGC	0.333000													4	65					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25572954	25572954	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:25572954G>A	ENST00000243189.7	-	2	777	c.501C>T	c.(499-501)ccC>ccT	p.P167P	C1orf63_ENST00000417642.2_Silent_p.P160P|C1orf63_ENST00000431849.2_Silent_p.P167P	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	167	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTAAGCGAAAGGGGGTTCTGC	0.547000													14	194					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7844984	7844984	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:7844984G>A	ENST00000420658.1	-	5	700	c.428C>T	c.(427-429)tCc>tTc	p.S143F	AFAP1_ENST00000382543.3_Missense_Mutation_p.S143F|AFAP1_ENST00000358461.2_Missense_Mutation_p.S143F|AFAP1_ENST00000360265.4_Missense_Mutation_p.S143F	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	143						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GGCCTCCTCGGAGGGCCACTG	0.557000													5	82					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886752	27886752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:27886752G>A	ENST00000326019.6	+	1	415	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	45						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGTTTCGAAGGAGCGGATTTC	0.572000													17	193					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169020356	169020356	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:169020356G>A	ENST00000355999.4	-	4	1170	c.465C>T	c.(463-465)aaC>aaT	p.N155N		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	155	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTTCTCCTCGGTTGACAATGT	0.368000													5	40					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459973	107459973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:107459973C>T	ENST00000409382.3	-	2	1071	c.461G>A	c.(460-462)gGg>gAg	p.G154E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G154E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G154E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	154			G -> R (in dbSNP:rs3796110).		growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCCTGGCTCCCCGGGGGAAGG	0.622000													17	268					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155233803	155233803	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:155233803G>A	ENST00000368361.4	-	12	1570	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	CLK2_ENST00000355560.4_Silent_p.L417L|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.L419L|CLK2_ENST00000361168.5_Silent_p.L418L			P49760	CLK2_HUMAN	CDC-like kinase 2	419	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	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)			TCCCAATCCAGGCGACCCCGG	0.517000								Other conserved DNA damage response genes					18	183					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79205600	79205600	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:79205600G>A	ENST00000264895.6	+	13	1737	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	FRAS1_ENST00000264899.6_Missense_Mutation_p.D433N|FRAS1_ENST00000325942.6_Missense_Mutation_p.D433N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	433					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						TCAGTCTCCAGACCACTGTGA	0.458000													13	320					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700646	241700646	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:241700646C>T	ENST00000498729.2	-	24	2511	c.2265_splice	c.e24+1	p.K755_splice	KIF1A_ENST00000320389.7_Splice_Site_p.K746_splice	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	746					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCAGCCCACCTTCTTTTTCA	0.577000													9	212					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774958	2774958	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:2774958G>A	ENST00000380605.2	-	14	2147	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	695					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AAATTGCAGGGGAAGGGGCCC	0.642000													8	91					0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18608809	18608809	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:18608809A>C	ENST00000377452.3	+	4	589	c.409A>C	c.(409-411)Aat>Cat	p.N137H	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	137					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						GCACATTCAGAATGATGGGCC	0.527000													6	113					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400934	77400934	+	Silent	SNP	G	G	A	rs149732972		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:77400934G>A	ENST00000451710.3	-	21	3012	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.F920F|TRPM6_ENST00000360774.1_Silent_p.F925F|TRPM6_ENST00000449912.2_Silent_p.F920F|TRPM6_ENST00000376864.4_Silent_p.F925F|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	925					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						ATCGAAGGACGAAGCCAGCTG	0.478000													27	175					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030587	79030587	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:79030587T>C	ENST00000446378.2	+	2	6030	c.5999T>C	c.(5998-6000)gTa>gCa	p.V2000A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2000						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCTGGAAATGTAGAGAGAAAC	0.408000													8	71					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178512	90178512	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:90178512C>T	ENST00000370454.4	+	3	638	c.383C>T	c.(382-384)cCt>cTt	p.P128L	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	128						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAGTATTTCCCTTACCTTGTC	0.428000													12	142					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844390	215844390	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:215844390G>A	ENST00000366943.2	-	64	14443	c.14057C>T	c.(14056-14058)cCa>cTa	p.P4686L	USH2A_ENST00000307340.3_Missense_Mutation_p.P4686L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4686	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTAGGACTGGATTGGATTT	0.363000										HNSCC(13;0.011)			12	176					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801832	9801832	+	Missense_Mutation	SNP	C	C	T	rs62105698	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:9801832C>T	ENST00000457674.2	-	5	865	c.347G>A	c.(346-348)gGt>gAt	p.G116D	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATAACAATTACCCTCAAAGAT	0.413000													6	56					0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148714596	148714596	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:148714596C>T	ENST00000345003.4	+	4	686	c.386C>T	c.(385-387)cCt>cTt	p.P129L	GYG1_ENST00000484197.1_Missense_Mutation_p.P129L|GYG1_ENST00000296048.6_Missense_Mutation_p.P129L|GYG1_ENST00000483267.1_Missense_Mutation_p.P129L	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	129					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCAGGGTGGCCTGACTGCTTC	0.433000													5	102					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134632371	134632371	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:134632371G>A	ENST00000361388.2	+	8	1424	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	CALD1_ENST00000424922.1_Missense_Mutation_p.E288K|CALD1_ENST00000417172.1_Missense_Mutation_p.E294K|CALD1_ENST00000361901.2_Missense_Mutation_p.E294K|CALD1_ENST00000543443.1_Missense_Mutation_p.E299K|CALD1_ENST00000361675.2_Missense_Mutation_p.E549K|CALD1_ENST00000422748.1_Missense_Mutation_p.E320K|CALD1_ENST00000495522.1_Missense_Mutation_p.E314K|CALD1_ENST00000393118.2_Missense_Mutation_p.E314K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	549	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GACCGAGAGCGAAGAGTTCGA	0.617000													3	11					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767038	88767038	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:88767038G>A	ENST00000497649.2	+	6	1324	c.946G>A	c.(946-948)Gat>Aat	p.D316N	MEPE_ENST00000395102.4_Missense_Mutation_p.D371N|MEPE_ENST00000560249.1_Missense_Mutation_p.D227N|MEPE_ENST00000361056.3_Missense_Mutation_p.D340N|MEPE_ENST00000540395.1_Missense_Mutation_p.D227N|MEPE_ENST00000424957.3_Missense_Mutation_p.D340N|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	340					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.D340N(1)		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)		GGGCAGCAACGATATCATGGG	0.473000													6	82					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248737528C>T	ENST00000328782.2	-	1	552	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGATTTTCCTAGACTGGC	0.527000													13	143					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307132	14307132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:14307132G>A	ENST00000378053.3	-	2	1277	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R341C|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	341	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GCCATCCCACGAACCTTTTCT	0.473000													14	175					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906640	42906640	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:42906640C>T	ENST00000422265.1	+	3	821	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.L216F|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.L216F	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		CCAGCAGAACCTCCTAGGGTT	0.557000													9	254					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700701	192700701	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:192700701G>A	ENST00000304141.4	-	2	1555	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	409						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)	GTCCCCATCGGAGCGCTCCGC	0.627000													14	97					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44715667	44715667	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:44715667C>T	ENST00000222673.5	+	9	1167	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	OGDH_ENST00000449767.1_Silent_p.S371S|OGDH_ENST00000447398.1_Silent_p.S386S|OGDH_ENST00000444676.1_Silent_p.S390S|OGDH_ENST00000443864.2_Silent_p.S375S|OGDH_ENST00000439616.2_Silent_p.S225S|OGDH_ENST00000543843.1_Silent_p.S326S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	375					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCAACCCTTCCCACCTTGAGG	0.562000													20	164					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69521799	69521799	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:69521799C>T	ENST00000374403.3	+	6	648	c.566C>T	c.(565-567)tCc>tTc	p.S189F	KIF4A_ENST00000374388.3_Missense_Mutation_p.S189F	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	189	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GATACTGTTTCCTGTTTGGAA	0.438000													21	132					0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17924547	17924547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:17924547C>T	ENST00000474627.3	-	7	776	c.622G>A	c.(622-624)Gag>Aag	p.E208K	ATPAF2_ENST00000585101.1_Intron|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	208					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCTACAAACTCAATCCCTGCA	0.587000													4	24					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753398	13753398	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13753398G>A	ENST00000265104.4	-	63	10920	c.10816C>T	c.(10816-10818)Cca>Tca	p.P3606S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3606	AAA 5 (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)					TGAGTCTGTGGATCAATTAAC	0.363000									Kartagener syndrome				6	90					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102564653	102564653	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:102564653C>T	ENST00000260229.4	-	8	1268	c.1177G>A	c.(1177-1179)Ggc>Agc	p.G393S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	393	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACCAAATGCCCACAAAGAAG	0.363000													8	107					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004218	75004218	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:75004218C>T	ENST00000373359.2	-	1	861	c.669G>A	c.(667-669)agG>agA	p.R223R		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	223	MAGE 1.									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						TGAGGAGGTTCCTTGTGTTCC	0.493000													9	140					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467126	21467126	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:21467126C>T	ENST00000281523.2	-	6	1228	c.710G>A	c.(709-711)gGa>gAa	p.G237E		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	237						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGTGCCACTTCCATTCCGGGC	0.448000													8	70					0	0	1	0	0
MRPL53	116540	broad.mit.edu	37	2	74699706	74699706	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:74699706C>T	ENST00000258105.7	-	1	743	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	MRPL53_ENST00000409710.1_Missense_Mutation_p.E28K	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	28						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CTCGTCGATTCCACGTTTTTC	0.592000													6	123					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063588	48063588	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:48063588A>G	ENST00000316364.5	+	19	3267	c.2828A>G	c.(2827-2829)aAg>aGg	p.K943R	SEMA6D_ENST00000558014.1_Missense_Mutation_p.K881R|SEMA6D_ENST00000389428.3_Missense_Mutation_p.K868R|SEMA6D_ENST00000536845.2_Missense_Mutation_p.K943R|SEMA6D_ENST00000389433.2_Missense_Mutation_p.K924R|SEMA6D_ENST00000354744.4_Missense_Mutation_p.K887R|SEMA6D_ENST00000537942.1_Missense_Mutation_p.K881R|SEMA6D_ENST00000389432.2_Missense_Mutation_p.K900R|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.K881R|SEMA6D_ENST00000355997.3_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	943					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGCCCAACCAAGCGAGTGGAT	0.517000													12	224					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222824	8222824	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:8222824C>T	ENST00000361926.3	+	15	2387	c.2277C>T	c.(2275-2277)tcC>tcT	p.S759S	ARHGEF15_ENST00000421050.1_Silent_p.S759S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	759					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGACTGTTCCCAGGAACTGT	0.537000													17	270					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348218	89348218	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:89348218G>A	ENST00000301030.4	-	9	5192	c.4732C>T	c.(4732-4734)Ctg>Ttg	p.L1578L	ANKRD11_ENST00000378330.2_Silent_p.L1578L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1578	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTCATCATCAGGTCGCCGTCC	0.577000													8	80					0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849283	110849283	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:110849283C>T	ENST00000272462.2	-	2	943	c.170G>A	c.(169-171)gGa>gAa	p.G57E	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	57	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding	p.G57A(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CATCACCCATCCTTGCAGCAA	0.433000													6	140					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497813	46497813	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:46497813G>A	ENST00000231751.4	-	3	578	c.283C>T	c.(283-285)Cct>Tct	p.P95S	LTF_ENST00000426532.2_Missense_Mutation_p.P51S|LTF_ENST00000417439.1_Missense_Mutation_p.P95S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	95	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCCGCTACAGGTCGCAGTTTG	0.587000													5	117					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997522	146997522	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:146997522G>A	ENST00000265272.5	-	19	2765	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	JAKMIP2_ENST00000333010.6_Silent_p.D724D|JAKMIP2_ENST00000507386.1_Silent_p.D745D	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	766						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCTGACAGTCATACTCTC	0.468000													8	65					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343781	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248343781C>T	ENST00000359682.2	+	1	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATTTTCCTTCTCCTTT	0.423000													40	372					0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127517039	127517039	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:127517039A>T	ENST00000356698.4	+	5	1295	c.706A>T	c.(706-708)Aaa>Taa	p.K236*	RSPO3_ENST00000368317.3_Nonsense_Mutation_p.K236*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	236						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		ACCTGACAGCAAAAGTCTGGA	0.368000													3	31					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140693307	140693307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:140693307G>A	ENST00000460843.1	+	17	2575	c.2548G>A	c.(2548-2550)Ggc>Agc	p.G850S		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	850					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCCAAGAAAGGCCACTACGA	0.532000													22	157					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142517247	142517247	+	RNA	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:142517247C>T	ENST00000430863.1	-	0	83					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		ACTGCCTGTCCATGGTTGGGG	0.642000													12	65					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684190	100684190	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100684190C>T	ENST00000306151.4	+	3	9557	c.9493C>T	c.(9493-9495)Cca>Tca	p.P3165S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3165	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGTACTCCATTAACATA	0.493000													80	841					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505250	32505250	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:32505250C>T	ENST00000520502.2	+	1	14	c.14C>T	c.(13-15)tCc>tTc	p.S5F	NRG1_ENST00000287840.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0					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)		GAGATTTATTCCCCAGACATG	0.582000													8	77					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				9	78					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402632	223402632	+	Missense_Mutation	SNP	C	C	T	rs141716617	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:223402632C>T	ENST00000343846.3	-	5	1456	c.823G>A	c.(823-825)Gat>Aat	p.D275N	SUSD4_ENST00000366878.4_Missense_Mutation_p.D275N|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.D115N			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	275	Sushi 4.					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)		TAGCCAGGATCGCAGTAAAAC	0.517000													12	112					0	0	1	0	0
LAMP2	3920	broad.mit.edu	37	X	119565286	119565286	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:119565286G>A	ENST00000200639.4	-	9	1261	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000434600.2_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	375	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGGGCACAAGGAAGTTGTCGT	0.443000													22	281					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187031	38187031	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:38187031G>A	ENST00000317025.8	-	6	1963	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	WHSC1L1_ENST00000433384.2_Silent_p.S482S|WHSC1L1_ENST00000316985.3_Silent_p.S482S|WHSC1L1_ENST00000527502.1_Silent_p.S482S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	482					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCATCGTAATGGAAGCTGGTA	0.488000			T	NUP98	AML								12	147					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126402785	126402785	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:126402785C>T	ENST00000394329.3	+	15	12721	c.12708C>T	c.(12706-12708)gcC>gcT	p.A4236A	FAT4_ENST00000335110.5_Silent_p.A2477A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4236	Laminin G-like 2.				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						TACGAGGTGCCATGTTGGAGC	0.438000													6	113					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109019283	109019283	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:109019283C>T	ENST00000478945.1	-	8	1101		c.e8-1			NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2							nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCTTATTCCTGTAAGGCAA	0.343000													4	83					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191731	152191731	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152191731C>T	ENST00000368801.2	-	3	2449	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	792					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)			CCGTGTTGGCCGTGGCTGGAG	0.602000													11	129					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228829	57228829	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:57228829C>T	ENST00000396721.2	-	2	208	c.78G>A	c.(76-78)atG>atA	p.M26I	SDR16C5_ENST00000522671.1_Missense_Mutation_p.M26I|SDR16C5_ENST00000303749.3_Missense_Mutation_p.M26I			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	26					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AGGCAAAAATCATAGCCTCCA	0.448000													10	84					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411620	43411620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:43411620G>A	ENST00000310826.5	-	3	2768	c.2585C>T	c.(2584-2586)tCt>tTt	p.S862F	ZBTB21_ENST00000398499.1_Missense_Mutation_p.S862F|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.S862F|ZBTB21_ENST00000398505.3_Missense_Mutation_p.S661F	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GGGAAGACAAGAGGAATCTTC	0.488000													11	189					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10219297	10219297	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10219297C>T	ENST00000418404.3	-	27	3947	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	MYH13_ENST00000570743.1_Missense_Mutation_p.E1262K|MYH13_ENST00000252172.4_Missense_Mutation_p.E1262K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1262					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						GCTTTGATTTCACTAAATTGA	0.448000													16	142					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107849982	107849982	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:107849982G>A	ENST00000328300.6	+	29	2499	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G752E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	752	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGAACCAGGATTTGCATTA	0.478000									Alport syndrome with Diffuse Leiomyomatosis				10	165					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000926	41000926	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:41000926C>T	ENST00000399564.4	-	38	4654	c.4204G>A	c.(4204-4206)Gat>Aat	p.D1402N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D957N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AATCTCACATCATCCTGCTCC	0.478000													4	11					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48993541	48993541	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:48993541C>T	ENST00000226432.4	+	3	489	c.306C>T	c.(304-306)tcC>tcT	p.S102S	CWH43_ENST00000513409.1_Silent_p.S75S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	102					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						GGGTGTCTTCCTCACTGATAG	0.438000													25	261					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464072	50464072	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:50464072G>A	ENST00000447370.2	-	2	287	c.197C>T	c.(196-198)tCt>tTt	p.S66F	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S66F	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	66	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCAGCAGTAGACTCGTCCCA	0.582000													9	60					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31902061	31902061	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:31902061C>T	ENST00000299367.5	+	6	1110	c.834C>T	c.(832-834)tcC>tcT	p.S278S	CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Silent_p.S146S|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Silent_p.S278S|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGAGCGCCTCCCTCATGGTGG	0.552000													30	275					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62857074	62857074	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:62857074C>T	ENST00000584306.1	-	11	3720	c.3190G>A	c.(3190-3192)Ggg>Agg	p.G1064R	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.G182R|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.G1064R|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.G102R|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.G41R	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1064						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTGGATTCCCTACAGATGCT	0.478000													9	291					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934251	2934251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:2934251C>T	ENST00000314531.4	-	4	966	c.874G>A	c.(874-876)Gga>Aga	p.G292R		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTTCTCTCCAGTGTGTGTT	0.463000													5	112					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518361	84518361	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:84518361G>A	ENST00000331369.5	+	0	555																											GTGACTGGGGGATTTTTCGGA	0.463000													16	184					0	0	1	0	0
MT-CO3	4514	broad.mit.edu	37	MT	9316	9316	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrM:9316T>C	ENST00000362079.2	+	1	110	c.110T>C	c.(109-111)tTc>tCc	p.37_37insS						mitochondrially encoded cytochrome c oxidase III											breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						GTGATTTCACTTCCACTCCAT	0.502000													2	6					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345813	57345813	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:57345813T>C	ENST00000398138.3	-	4	1810	c.954A>G	c.(952-954)tgA>tgG	p.*318W	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	0					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AACCTTAGCTTCATAGAGCCT	0.552000													7	47					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808026	160808026	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:160808026C>T	ENST00000283243.7	-	24	3571	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G1122E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1122	C-type lectin 7.				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						AGTTCTGTTTCCATATTCTAA	0.378000													9	106					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47667058	47667058	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:47667058G>A	ENST00000273857.4	-	11	1579	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L	CORIN_ENST00000508498.1_Missense_Mutation_p.P388L|CORIN_ENST00000505909.1_Missense_Mutation_p.P490L|CORIN_ENST00000502252.1_Missense_Mutation_p.P460L|CORIN_ENST00000504584.1_Missense_Mutation_p.P490L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	527	FZ 2.				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						CCTGCAAGGAGGGATATGCTC	0.418000													7	49					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645093	87645093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:87645093G>A	ENST00000320005.5	-	11	1254	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	403			R -> Q (in macular degeneration).		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						ATTAAAGTTCGAACTGCCCAA	0.328000													4	33					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683641	50683641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:50683641C>T	ENST00000446044.1	+	10	1371	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R259C	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	259	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAGGAGGATTCGCCTGGGCCA	0.602000													11	258					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206032	41206032	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:41206032G>A	ENST00000324464.3	-	12	1384	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ADCK4_ENST00000450541.1_Silent_p.F320F|ADCK4_ENST00000243583.6_Silent_p.F320F	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	361	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCATGAATCGGAACTCAAACA	0.532000													5	82					0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65422357	65422357	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:65422357G>A	ENST00000406246.3	-	11	1409	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	RELA_ENST00000308639.9_Missense_Mutation_p.P380L|RELA_ENST00000525693.1_3'UTR	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	383					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						gacttggggaggggccggggc	0.652000													3	13					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824665	96824665	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:96824665G>A	ENST00000371270.3	-	4	628	c.534C>T	c.(532-534)atC>atT	p.I178I	CYP2C8_ENST00000539050.1_Silent_p.I92I|CYP2C8_ENST00000535898.1_Silent_p.I76I	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	178					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)	CAACGGAGCAGATCACATTGC	0.333000													11	111					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389833	158389833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:158389833G>A	ENST00000314902.2	-	1	823	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	275					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)					GTAGGATACTGATATTAGAGC	0.383000													21	90					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536722	4536722	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:4536722C>T	ENST00000570836.1	-	10	1331	c.1235G>A	c.(1234-1236)gGa>gAa	p.G412E	ALOX15_ENST00000293761.3_Missense_Mutation_p.G412E|ALOX15_ENST00000574640.1_Missense_Mutation_p.G373E|ALOX15_ENST00000545513.1_Missense_Mutation_p.G434E			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	412	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.G412E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTCGAAAATTCCCATGTCAGA	0.537000													13	179					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131546056	131546056	+	Silent	SNP	C	C	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:131546056C>A	ENST00000401867.1	-	7	1198	c.630G>T	c.(628-630)ctG>ctT	p.L210L	P4HA2_ENST00000379086.1_Silent_p.L210L|P4HA2_ENST00000379100.2_Silent_p.L210L|P4HA2_ENST00000379104.2_Silent_p.L210L|P4HA2_ENST00000360568.3_Silent_p.L210L|P4HA2_ENST00000166534.4_Silent_p.L210L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	210						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGAGGTAGTCCAGCACCTGTG	0.562000													27	224					9.80776e-20	9.95661e-20	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100774588	100774588	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:100774588G>T	ENST00000323346.5	+	2	524	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SLC17A8_ENST00000392989.3_Missense_Mutation_p.G71C	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	71					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						CCACTGCTGCGGCCTCCCCAA	0.537000													15	203					2.32078e-09	2.34809e-09	1	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794500	15794500	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:15794500G>A	ENST00000550308.1	+	7	1225	c.845G>A	c.(844-846)gGt>gAt	p.G282D	CYP4F12_ENST00000324632.9_Missense_Mutation_p.G282D	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)					CCCACTCAGGGTATTGATGAT	0.527000													14	193					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736120	4736120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:4736120G>A	ENST00000545990.2	-	5	2472	c.1948C>T	c.(1948-1950)Ctt>Ttt	p.L650F	AKAP3_ENST00000228850.1_Missense_Mutation_p.L650F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	650					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGCCCAGAAAGGGCACCAGGG	0.522000													7	74					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109019282	109019282	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:109019282C>T	ENST00000478945.1	-	8	1101	c.854_splice	c.e8-1	p.R285_splice		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	285						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTCTTATTCCTGTAAGGCA	0.343000													4	84					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027232	37027232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:37027232C>T	ENST00000358047.3	+	1	801	c.749C>T	c.(748-750)cCt>cTt	p.P250L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	250										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGCCCAGAGCCTCCCAAGACT	0.617000													21	179					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156105793	156105793	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:156105793C>T	ENST00000368300.4	+	6	1250	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	LMNA_ENST00000347559.2_Silent_p.A346A|LMNA_ENST00000448611.2_Silent_p.A234A|LMNA_ENST00000368299.3_Silent_p.A346A|LMNA_ENST00000392353.3_Silent_p.A265A|LMNA_ENST00000368297.1_Silent_p.A265A|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Silent_p.A346A|LMNA_ENST00000368301.2_Silent_p.A346A|LMNA_ENST00000473598.2_Silent_p.A247A	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	346	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGGAGATGGCCGAGATGCGGG	0.642000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				7	64					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955776	51955776	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:51955776G>A	ENST00000321424.3	-	7	1423	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.H344Y|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.H360Y	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	453					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCACTTTATGGAAGCTGAGG	0.562000													8	128					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940632	22940632	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:22940632C>T	ENST00000397104.3	-	5	1805	c.1806G>A	c.(1804-1806)agG>agA	p.R602R	ZNF99_ENST00000596209.1_Silent_p.R693R					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)				TCTTATGTTTCCTAAGGGCTG	0.373000													6	57					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006137	74006137	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:74006137G>A	ENST00000301607.3	-	22	3402	c.3149C>T	c.(3148-3150)tCg>tTg	p.S1050L	EVPL_ENST00000586740.1_Missense_Mutation_p.S1072L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1050	Central fibrous rod domain.				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						CAGCCGGGCCGAGATGACGGC	0.637000													9	193					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593294	135593294	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:135593294G>A	ENST00000535601.1	+	10	1812	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.E464K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	464	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGGCTGCCCTGAAAAAGAATC	0.468000													7	129					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20792028	20792028	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:20792028C>T	ENST00000300005.3	-	11	965	c.923G>A	c.(922-924)aGg>aAg	p.R308K	ACSM3_ENST00000289416.5_Intron|ACSM3_ENST00000450120.2_Intron|ACSM3_ENST00000440284.2_Intron	NM_080663.2	NP_542394.2	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	0						intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GTAGTTTTTCCTTTGCAGACA	0.408000													9	142					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096349	51096349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:51096349G>A	ENST00000395542.2	-	12	2874	c.2690C>T	c.(2689-2691)tCg>tTg	p.S897L	COBL_ENST00000265136.7_Missense_Mutation_p.S815L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	815										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)					CTGCTGGGGCGATATTGGCTT	0.657000													5	92					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104378	142104378	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:142104378G>A	ENST00000390379.1	-	0	86																											TCAGGATGTGGAATTTTGGGG	0.532000													19	135					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845734	107845734	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:107845734C>T	ENST00000285311.3	-	3	1202	c.497G>A	c.(496-498)gGa>gAa	p.G166E	DKK2_ENST00000510463.1_Missense_Mutation_p.G120E|DKK2_ENST00000513208.1_Missense_Mutation_p.G66E	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	166					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGTGGTCTTCCTAGATTCTG	0.393000													13	188					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496781	54496781	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:54496781G>A	ENST00000375135.3	-	4	1502	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	257	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCACCCTCGGGGAGCTGGGGC	0.667000													5	31					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762237	24762237	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:24762237G>A	ENST00000376451.2	+	2	341	c.81G>A	c.(79-81)gcG>gcA	p.A27A	KIAA1217_ENST00000376452.3_Silent_p.A309A|KIAA1217_ENST00000376454.3_Silent_p.A309A|KIAA1217_ENST00000396445.1_Silent_p.A27A|KIAA1217_ENST00000307544.6_Silent_p.A27A|KIAA1217_ENST00000396446.1_Silent_p.A27A|KIAA1217_ENST00000376462.1_Silent_p.A229A|KIAA1217_ENST00000430453.2_Silent_p.A230A|KIAA1217_ENST00000458595.1_Silent_p.A309A			Q5T5P2	SKT_HUMAN	KIAA1217	309					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						CACCCCATGCGATTCCAAATT	0.567000													18	149					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698260	17698260	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:17698260C>T	ENST00000353383.1	+	3	2467	c.1998C>T	c.(1996-1998)gcC>gcT	p.A666A	RAI1_ENST00000261641.6_Silent_p.A666A	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	666						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)		AGCCGGAGGCCCTGCCCGACT	0.657000													8	84					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482555	140482555	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140482555C>T	ENST00000231130.2	+	1	2322	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000													19	118					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33142311	33142311	+	Missense_Mutation	SNP	C	C	T	rs121912948		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:33142311C>T	ENST00000341947.2	-	31	2650	c.2423G>A	c.(2422-2424)gGa>gAa	p.G808E	COL11A2_ENST00000374714.1_Missense_Mutation_p.G782E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G748E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G787E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G722E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G701E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G761E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G727E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	808	Triple-helical region.		G -> E (in DFNA13).		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						CACCTTGGGTCCCTGACGTCC	0.602000													3	27					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62191389	62191389	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:62191389C>T	ENST00000467148.1	-	18	7786	c.7717G>A	c.(7717-7719)Gac>Aac	p.D2573N	HELZ2_ENST00000427522.2_Missense_Mutation_p.D2004N	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGCCGCTGGTCCAGGTCGCTC	0.662000													5	45					0	0	1	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942832	219942832	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:219942832C>T	ENST00000356853.5	-	6	818	c.685G>A	c.(685-687)Gga>Aga	p.G229R	NHEJ1_ENST00000409720.1_Missense_Mutation_p.G229R|NHEJ1_ENST00000483627.1_5'UTR	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	229					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TGCTTCTGTCCCACTTGGACC	0.488000								Non-homologous end-joining					4	67					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921482	25921482	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:25921482G>A	ENST00000377850.3	-	4	923	c.399C>T	c.(397-399)acC>acT	p.T133T	SLC17A2_ENST00000360488.3_Silent_p.T133T|SLC17A2_ENST00000265425.3_Silent_p.T133T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	133					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGTAAAGAGGGTGAGAAGGG	0.463000													12	91					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118550670	118550670	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:118550670G>A	ENST00000336338.5	-	31	4649	c.4584C>T	c.(4582-4584)taC>taT	p.Y1528Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1528						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)		GACCTACCTGGTATGTTCCCT	0.478000													9	92					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2573013	2573013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:2573013G>A	ENST00000358864.1	+	8	907	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	298						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCGGGCTGAGGAAGAAAAGGC	0.428000													7	151					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146266598	146266598	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:146266598G>A	ENST00000367503.3	-	8	1895	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	SHPRH_ENST00000438092.2_Silent_p.I499I|SHPRH_ENST00000367505.2_Silent_p.I499I|SHPRH_ENST00000275233.7_Silent_p.I499I	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	499	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CATGGCCTTTGATCTGTTTCA	0.353000													6	44					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122683021	122683021	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:122683021G>A	ENST00000337677.5	-	4	576	c.18C>T	c.(16-18)atC>atT	p.I6I	TMEM155_ENST00000394396.1_Silent_p.I6I|TMEM155_ENST00000394394.1_Silent_p.I6I	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	6						extracellular region				breast(1)|lung(5)	6						AGATTGTCCTGATAAGATCTG	0.308000													7	63					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016391	176016391	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:176016391G>A	ENST00000510636.1	+	23	3343	c.3069G>A	c.(3067-3069)agG>agA	p.R1023R	CDHR2_ENST00000506348.1_Silent_p.R1023R|CDHR2_ENST00000261944.5_Silent_p.R1023R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1023	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCCAGGCCAGGGACAGACCTT	0.647000													12	206					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202135	56202135	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:56202135C>T	ENST00000361673.3	-	5	5497	c.5284G>A	c.(5284-5286)Gaa>Aaa	p.E1762K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1762							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						AATGATGTTTCGAGTTTGGGC	0.403000													20	194					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82549517	82549517	+	Nonsense_Mutation	SNP	G	G	A	rs150477159	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:82549517G>A	ENST00000313010.3	-	8	1380	c.1186C>T	c.(1186-1188)Caa>Taa	p.Q396*	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Nonsense_Mutation_p.Q417*|PRCP_ENST00000535099.1_Nonsense_Mutation_p.Q291*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	396					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCCCACTGTTGAAAACAGTCA	0.433000													8	55					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27233714	27233714	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:27233714C>T	ENST00000429845.2	-	27	2673	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	NEK10_ENST00000383770.3_Missense_Mutation_p.E83K|NEK10_ENST00000383771.4_Missense_Mutation_p.E83K|NEK10_ENST00000295720.6_Missense_Mutation_p.E83K|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Missense_Mutation_p.E168K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	771							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E771K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGACGAGCTTCCGCATCAGGA	0.408000													7	74					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813821	248813821	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248813821C>T	ENST00000344889.3	-	1	364	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTACGTAGCGATCATAGGA	0.542000													4	76					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190166	119190166	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:119190166G>A	ENST00000295588.4	+	3	271	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	63						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGTCATAGAAGAGGATCTAAC	0.478000													16	316					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32718649	32718649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:32718649C>T	ENST00000421745.2	+	45	8517	c.8383C>T	c.(8383-8385)Cga>Tga	p.R2795*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2795					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTTCTTACTCGATTACAAGT	0.323000													6	63					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118758452	118758452	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:118758452A>T	ENST00000376300.2	-	4	445	c.308T>A	c.(307-309)cTg>cAg	p.L103Q	CCDC93_ENST00000319432.5_Missense_Mutation_p.L103Q|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	103										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GTGGGGCTCCAGCTGGTGTGG	0.448000													9	82					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258589	51258589	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:51258589C>T	ENST00000395542.2	-	4	827	c.643G>A	c.(643-645)Gag>Aag	p.E215K	COBL_ENST00000395540.2_Missense_Mutation_p.E215K|COBL_ENST00000441453.1_Missense_Mutation_p.E215K|COBL_ENST00000265136.7_Missense_Mutation_p.E215K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	215										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)					ATCCCGAGCTCGTTCAGGGAC	0.592000													6	48					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380232	78380232	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:78380232C>T	ENST00000278550.7	-	32	7620	c.7158G>A	c.(7156-7158)ggG>ggA	p.G2386G		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTAGATCTCCCCATAGGCTG	0.488000													4	53					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354403	57354403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:57354403G>A	ENST00000314922.3	-	2	308	c.232C>T	c.(232-234)Caa>Taa	p.Q78*	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Nonsense_Mutation_p.Q78*	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	78					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			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)			GTGCCATCTTGAGGAAGCTCT	0.483000													15	180					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855763	189855763	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:189855763A>T	ENST00000304636.3	+	11	1002	c.832A>T	c.(832-834)Aca>Tca	p.T278S	COL3A1_ENST00000317840.5_Missense_Mutation_p.T278S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	278	Triple-helical region.			T -> A (in Ref. 9; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAGGGTGAAACAGGTGCTCC	0.294000													13	112					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77300481	77300481	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:77300481C>T	ENST00000376896.2	+	10	1939	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	RORB_ENST00000396204.2_Missense_Mutation_p.P454S	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	454	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TACACTGTTTCCTCCGTTATA	0.453000													17	141					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424525	56424525	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56424525C>T	ENST00000588751.1	-	5	682	c.658G>A	c.(658-660)Gat>Aat	p.D220N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D220N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	220							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTATTAGGATCCAGTAGGCGC	0.527000													26	197					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746337	746337	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:746337C>T	ENST00000264560.7	+	8	749	c.555C>T	c.(553-555)tcC>tcT	p.S185S	PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Silent_p.S229S	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	229					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		CCCTGAGCTCCTCCGAGGTGG	0.667000													9	73					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423665	88423665	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:88423665C>T	ENST00000297203.2	-	2	777	c.592G>A	c.(592-594)Gat>Aat	p.D198N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	198								p.D198N(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTAAGTTATCGCCTGGTCCT	0.423000													10	134					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393444	154393444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:154393444C>T	ENST00000435029.4	+	1	185	c.25C>T	c.(25-27)Cct>Tct	p.P9S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	9	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAGGGAATTCCTGTAAGAGT	0.587000													13	128					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909851	101909851	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:101909851G>A	ENST00000537097.1	+	6	1823	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	GPRASP1_ENST00000361600.5_Missense_Mutation_p.R337Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R337Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R337Q|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	337						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGGCCAAGCGAGAAGCTTGC	0.478000													11	233					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	19015531	19015531	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:19015531C>T	ENST00000406451.3	+	25	3266	c.3116C>T	c.(3115-3117)tCc>tTc	p.S1039F	HDAC9_ENST00000441542.2_Missense_Mutation_p.S1042F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S998F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					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)	GCCCTGGCCTCCCTAACAGTG	0.537000													9	61					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77380915	77380915	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:77380915C>T	ENST00000373316.4	+	10	1373	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PGK1_ENST00000537456.1_Silent_p.L374L|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Silent_p.L266L	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	402					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GTTTGGAGCTCCTGGAAGGTG	0.512000													7	68					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23818466	23818466	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:23818466G>A	ENST00000546136.1	-	6	806	c.804C>T	c.(802-804)ccC>ccT	p.P268P	SOX5_ENST00000541536.1_Silent_p.P268P|SOX5_ENST00000451604.2_Silent_p.P281P|SOX5_ENST00000545921.1_Silent_p.P271P|SOX5_ENST00000381381.2_Silent_p.P268P|SOX5_ENST00000537393.1_Silent_p.P246P|SOX5_ENST00000309359.1_Silent_p.P268P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	281					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P281P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGGAATACGGGAATCATTA	0.512000													18	217					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327549	152327549	+	Missense_Mutation	SNP	C	C	T	rs148753254		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152327549C>T	ENST00000388718.5	-	3	2785	c.2713G>A	c.(2713-2715)Gga>Aga	p.G905R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	905	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTATTGTCCTGAGCCAGTC	0.488000													38	384					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43806136	43806136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:43806136C>T	ENST00000372470.3	+	6	974	c.932C>T	c.(931-933)tCc>tTc	p.S311F	MPL_ENST00000413998.2_Missense_Mutation_p.S311F	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	311					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGCTAGCTCCCAAGGCTTC	0.517000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						35	269					0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821548	35821548	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:35821548G>A	ENST00000337385.3	-	3	760	c.385C>T	c.(385-387)Cca>Tca	p.P129S	KCNE1_ENST00000416357.2_Missense_Mutation_p.P129S|KCNE1_ENST00000399289.3_Missense_Mutation_p.P129S|KCNE1_ENST00000432085.1_Missense_Mutation_p.P129S|KCNE1_ENST00000399284.1_Missense_Mutation_p.P129S|KCNE1_ENST00000399286.2_Missense_Mutation_p.P129S	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	129					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGGGTTCATGGGGAAGGCTTC	0.507000													28	255					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362949	175362949	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:175362949G>A	ENST00000367674.1	-	6	2031	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	TNR_ENST00000263525.2_Silent_p.S441S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	441	Fibronectin type-III 2.				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)					ACCCATCGAAGGAAAATGAGA	0.453000													9	289					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965496	22965496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:22965496C>T	ENST00000374642.3	+	3	538	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.Q112*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	112	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATCAAGGACCAGCCGAGGCC	0.652000													6	34					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5790260	5790260	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:5790260G>A	ENST00000309061.7	-	2	281	c.185C>T	c.(184-186)cCt>cTt	p.P62L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	62					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						ATTGCCAGCAGGGTCTCCTAC	0.612000													15	126					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98816131	98816131	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:98816131C>T	ENST00000266058.4	-	13	1493	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.K416K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	416					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGCTCTGGATCTTGTTGTCAT	0.597000													13	182					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185698103	185698103	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:185698103G>A	ENST00000515030.1	-	6	837	c.512C>T	c.(511-513)tCg>tTg	p.S171L	ACSL1_ENST00000504342.1_Missense_Mutation_p.S171L|ACSL1_ENST00000504900.1_Missense_Mutation_p.S171L|ACSL1_ENST00000507295.1_Missense_Mutation_p.S137L|ACSL1_ENST00000513317.1_Missense_Mutation_p.S171L|ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000281455.2_Missense_Mutation_p.S171L|ACSL1_ENST00000437665.3_5'UTR			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	171					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GATCACCATCGAATAAGCAAA	0.393000													6	37					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128615876	128615876	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:128615876G>A	ENST00000393245.1	-	17	2650	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	TNPO3_ENST00000471166.1_Silent_p.L759L|TNPO3_ENST00000482320.1_Silent_p.L659L|TNPO3_ENST00000471234.1_Silent_p.L661L|TNPO3_ENST00000265388.5_Silent_p.L725L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	725					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAGATACCTGGAGCATGTCTA	0.483000													8	71					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3683104	3683104	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:3683104C>T	ENST00000294600.2	+	9	1542	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	486										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCCAGTTCTCCAACCTCCGAG	0.498000													4	58					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127637148	127637148	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:127637148A>T	ENST00000508053.1	-	53	6946	c.5972T>A	c.(5971-5973)tTt>tAt	p.F1991Y	FBN2_ENST00000262464.4_Missense_Mutation_p.F1991Y			P35556	FBN2_HUMAN	fibrillin 2	1991	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTTCATTAAAACAACGTCC	0.358000													7	68					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883851	228883851	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:228883851C>T	ENST00000392056.3	-	7	1765	c.1719G>A	c.(1717-1719)ctG>ctA	p.L573L	SPHKAP_ENST00000344657.5_Silent_p.L573L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	573						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)		CTCTTTCACCCAGACCACAGA	0.552000													20	192					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:150174830G>A	ENST00000307271.3	+	5	2534	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	654						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000													22	108					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26949194	26949194	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:26949194G>A	ENST00000539517.2	-	3	753	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NOVA1_ENST00000344429.5_Missense_Mutation_p.R146C|NOVA1_ENST00000465357.2_Missense_Mutation_p.R146C|NOVA1_ENST00000574031.1_Missense_Mutation_p.R146C|NOVA1_ENST00000547619.1_Missense_Mutation_p.R146C|NOVA1_ENST00000267422.7_Missense_Mutation_p.R24C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	149					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGTTTGATGCGATCTGGATTA	0.388000													9	130					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275399	58275399	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:58275399G>A	ENST00000360374.2	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAAAAGTACA	0.502000													7	96					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559463	140559463	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140559463C>T	ENST00000239444.2	+	1	2093	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		616	Cadherin 6.				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)			CCGGGCTGTTCGGTGTGTGGG	0.692000													13	108					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36229846	36229846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr13:36229846G>A	ENST00000540320.1	+	54	8793	c.8259G>A	c.(8257-8259)tgG>tgA	p.W2753*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.W2753*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.W2753*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.W331*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.W2750*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.W546*			Q8NFP9	NBEA_HUMAN	neurobeachin	2753						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTGGTACTGGAGTGGGCGGC	0.473000													12	98					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569658	248569658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248569658G>A	ENST00000366474.1	+	1	363	c.363G>A	c.(361-363)atG>atA	p.M121I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TAATTGACATGATGTATATTT	0.453000													9	223					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:50329948G>A	ENST00000336089.4	-	3	309	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_ENST00000417626.2_5'UTR|IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000													7	60					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121554972	121554972	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:121554972C>T	ENST00000452319.1	+	2	136	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P26S			P10070	GLI2_HUMAN	GLI family zinc finger 2	26					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)				CGCTGGCTTCCCCGACCCGGG	0.617000													25	233					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24466778	24466778	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:24466778C>T	ENST00000398319.2	+	17	2645	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	CABIN1_ENST00000405822.2_Missense_Mutation_p.R704W|CABIN1_ENST00000263119.5_Missense_Mutation_p.R754W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	754					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGGACTATCGGCAGTGTTT	0.582000													13	152					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307800	207307800	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:207307800G>A	ENST00000367070.3	+	9	1330	c.1136G>A	c.(1135-1137)aGg>aAg	p.R379K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	379	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						ACTCAACACAGGAAAAGTCGT	0.383000													22	146					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69455673	69455673	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:69455673G>A	ENST00000374521.3	+	2	225	c.184_splice	c.e2+1	p.G62_splice	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	62					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCCAGAGCGAGGTAAGACTCA	0.522000													18	127					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809989	5809989	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:5809989G>A	ENST00000317078.1	-	1	57	c.58C>T	c.(58-60)Cct>Tct	p.P20S	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCCAAACCAGGGATGCCATTT	0.433000													4	65					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13867056	13867056	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:13867056G>A	ENST00000284951.5	-	9	852	c.778C>T	c.(778-780)Cca>Tca	p.P260S	SEL1L2_ENST00000378072.5_Missense_Mutation_p.P260S|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	260						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTCCACTGGAACACCTTCA	0.363000													5	50					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7802272	7802272	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:7802272C>T	ENST00000229304.4	-	5	602	c.582G>A	c.(580-582)aaG>aaA	p.K194K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	194					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	p.K194K(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTCTTGAAATCTTTAAACAGG	0.313000													4	45					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350764	134350764	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:134350764G>A	ENST00000357304.4	+	15	3303	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1083							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCTGCTGGCGGAAATGGGAGC	0.657000													5	28					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177230	89177230	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:89177230A>C	ENST00000561129.2	+	1	276	c.146A>C	c.(145-147)cAc>cCc	p.H49P	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.H49P			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TTACCAGAGCACAAGAAGAAG	0.512000													6	117					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811827	140811827	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:140811827G>A	ENST00000509479.2	-	2	1619	c.763C>T	c.(763-765)Cct>Tct	p.P255S	MAML3_ENST00000327122.5_Missense_Mutation_p.P99S	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	255					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCGTTGACAGGAAGTTTAATC	0.473000													14	144					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790158	40790158	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:40790158G>A	ENST00000373198.3	-	18	2817	c.2582C>T	c.(2581-2583)tCc>tTc	p.S861F	PTPRT_ENST00000373193.3_Missense_Mutation_p.S842F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S829F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S848F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S829F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S838F|PTPRT_ENST00000373187.1_Missense_Mutation_p.S839F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	839					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)				GGTGGGCTGGGAAAGCTCCCC	0.597000													21	92					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120966895	120966895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:120966895C>T	ENST00000288532.6	-	1	90	c.50G>A	c.(49-51)tGg>tAg	p.W17*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W17*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	17					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCCCGCGACCACCCACGGCC	0.652000													9	52					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546725	11546725	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:11546725C>T	ENST00000389362.4	-	3	322	c.287G>A	c.(286-288)gGa>gAa	p.G96E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.612000													26	736					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18179295	18179295	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:18179295C>T	ENST00000600835.1	-	12	1534	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	IL12RB1_ENST00000593993.1_Missense_Mutation_p.E411K|IL12RB1_ENST00000430026.2_Missense_Mutation_p.E411K			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	411	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TAACACTTTTCCTGCCCCATT	0.532000													8	215					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87022316	87022316	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:87022316C>T	ENST00000395169.3	-	8	1225	c.505G>A	c.(505-507)Gac>Aac	p.D169N	MAPK10_ENST00000395157.3_Missense_Mutation_p.D62N|MAPK10_ENST00000395166.1_Missense_Mutation_p.D169N|MAPK10_ENST00000395161.2_Missense_Mutation_p.D207N|MAPK10_ENST00000395160.3_Missense_Mutation_p.D62N|MAPK10_ENST00000361569.2_Missense_Mutation_p.D207N|MAPK10_ENST00000359221.3_Missense_Mutation_p.D207N|MAPK10_ENST00000449047.2_Missense_Mutation_p.D62N	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	207	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGTCCAAAGTCCAGGATTTTC	0.433000													9	70					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751276	162751276	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:162751276C>T	ENST00000375514.5	+	11	1512	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	SLC4A10_ENST00000446997.1_Missense_Mutation_p.P428S|SLC4A10_ENST00000535165.1_Silent_p.S398S|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P428S|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P398S|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P398S	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	428					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TACTGTTCTCCCTCCTGGAGA	0.363000													8	70					0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50617645	50617645	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:50617645G>A	ENST00000232854.4	+	10	1517	c.965G>A	c.(964-966)aGg>aAg	p.R322K	HEMK1_ENST00000455834.1_Missense_Mutation_p.R322K|HEMK1_ENST00000434410.1_Missense_Mutation_p.R322K	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	322					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GCTGTGCGCAGGGACTTCTGT	0.572000													10	90					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237199	100237199	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:100237199G>A	ENST00000305046.8	-	5	490	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ADH1B_ENST00000394887.3_Silent_p.F101F			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	141					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGGTGCCAAGGAAGTGGTGAA	0.577000													17	134					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61524251	61524251	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:61524251G>A	ENST00000266070.4	-	13	3490	c.3165C>T	c.(3163-3165)acC>acT	p.T1055T	DIDO1_ENST00000395340.1_Silent_p.T1055T|DIDO1_ENST00000395335.2_Silent_p.T1055T|DIDO1_ENST00000395343.1_Silent_p.T1055T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1055					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCAAATGGTGCTGAGTC	0.423000													14	79					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209800877	209800877	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:209800877C>T	ENST00000391911.1	-	11	1725	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	LAMB3_ENST00000356082.4_Missense_Mutation_p.E446K|LAMB3_ENST00000367030.3_Missense_Mutation_p.E446K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	446	Laminin EGF-like 4.				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)		CCACTCTCCTCGTCACACGGC	0.617000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	115					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10441027	10441027	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10441027G>A	ENST00000245503.5	-	15	1926	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I514I|MYH2_ENST00000532183.1_Silent_p.I514I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	514	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						TCCCGAAGTCGATGAACGTCC	0.473000													25	244					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513601	169513601	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:169513601C>T	ENST00000367796.3	-	12	2124	c.1923G>A	c.(1921-1923)agG>agA	p.R641R	F5_ENST00000367797.3_Silent_p.R636R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	636	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTCCTCATGCCTCTTTCCAT	0.493000													12	73					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048614	6048614	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:6048614C>T	ENST00000316650.5	-	1	357	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGAACATCTGGAGGAAGC	0.552000													6	123					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219297672	219297672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:219297672C>T	ENST00000248444.5	+	13	1586	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	VIL1_ENST00000392114.2_Nonsense_Mutation_p.Q189*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	500	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)		GGTGGTCTACCAGGTGTGGCT	0.572000													10	71					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411377	23411377	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:23411377G>A	ENST00000379361.4	+	3	2602	c.1742G>A	c.(1741-1743)gGg>gAg	p.G581E		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	581					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACACCAAGGGGTTTGTGCGG	0.393000													21	182					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133002086	133002086	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:133002086C>T	ENST00000253861.4	+	5	734	c.705C>T	c.(703-705)ctC>ctT	p.L235L	EXOC4_ENST00000539845.1_Silent_p.L134L|EXOC4_ENST00000393161.2_Silent_p.L235L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	235					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTACAAACCTCCCTACTCCTC	0.403000													7	205					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256422	140256422	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140256422C>T	ENST00000398631.2	+	1	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_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)			CGCCTGCGTTCGCGCAGCCCG	0.662000													28	172					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127811009	127811009	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:127811009C>T	ENST00000316724.5	-	14	1663	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.D375N|BIN1_ENST00000348750.4_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	418	Clathrin-binding.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCCAGAGGTCCCATGGAATT	0.607000													6	39					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149878254	149878254	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:149878254C>T	ENST00000369146.3	-	11	2323	c.1833G>A	c.(1831-1833)ggG>ggA	p.G611G	SV2A_ENST00000369145.1_Silent_p.G611G	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	611				G -> R (in Ref. 3; BAC11645).	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)	ACACGATATTCCCAGGAAGCA	0.577000													13	102					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100162603	100162603	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100162603C>T	ENST00000300176.4	+	12	1557	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	479					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACCACCAACCCCTTCTTGTA	0.537000													26	363					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313370	74313370	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:74313370G>A	ENST00000395792.2	+	8	1135	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	AFP_ENST00000226359.2_Silent_p.G345G	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	345	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTCTTCAGGGGAAAAAAATA	0.333000									Alpha-Fetoprotein, Hereditary Persistence of				3	28					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634464	180634464	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:180634464G>A	ENST00000410066.1	-	3	622	c.19C>T	c.(19-21)Cta>Tta	p.L7L		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	7						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGCCCCGTAGAAAATTTGCC	0.408000													9	91					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10106908	10106908	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:10106908C>T	ENST00000264828.3	-	14	1538	c.1453G>A	c.(1453-1455)Ggg>Agg	p.G485R	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	485	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)			CCAGTGAGCCCCACTGGACCA	0.597000													7	69					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700925	17700925	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:17700925G>A	ENST00000353383.1	+	3	5132	c.4663G>A	c.(4663-4665)Ggg>Agg	p.G1555R	RAI1_ENST00000261641.6_Missense_Mutation_p.G1555R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1555						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)		ACCCTGTAAGGGGCGTGCCAA	0.612000													6	147					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316133	125316133	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:125316133C>T	ENST00000373688.2	+	1	743	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGTTCCCCTCCTGCTGATCGT	0.507000													30	223					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526279	189526279	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:189526279C>T	ENST00000264731.3	+	4	632	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TP63_ENST00000392460.3_Silent_p.F181F|TP63_ENST00000392461.3_Silent_p.F87F|TP63_ENST00000392463.2_Silent_p.F87F|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Silent_p.F87F|TP63_ENST00000418709.2_Silent_p.F181F|TP63_ENST00000456148.1_Silent_p.F87F|TP63_ENST00000320472.5_Silent_p.F181F|TP63_ENST00000440651.2_Silent_p.F181F|TP63_ENST00000354600.5_Silent_p.F87F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	181					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)		ACGTGTCCTTCCAGCAGTCGA	0.637000										HNSCC(45;0.13)			10	109					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884058	38884058	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:38884058G>A	ENST00000274276.3	+	5	950	c.548G>A	c.(547-549)gGg>gAg	p.G183E	OSMR_ENST00000502536.1_Missense_Mutation_p.G183E	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	183					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TATTTGGAAGGGAAACAGATT	0.363000													8	113					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885041	13885041	+	Silent	SNP	C	C	T	rs141290578		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:13885041C>T	ENST00000327606.3	-	2	657	c.477G>A	c.(475-477)acG>acA	p.T159T		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	159					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGCCAGTCCCCGTGCAGAACG	0.582000													10	108					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937319	76937319	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:76937319C>T	ENST00000373344.5	-	9	3643	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.K1105K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1143					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAGTATTTCTCTTTGAACTTA	0.318000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						9	117					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751407	26751407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:26751407G>A	ENST00000396641.2	+	2	836	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LRRC3B_ENST00000456208.2_Missense_Mutation_p.E82K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.E82K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	82						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TATTCCCAATGAAATTTTTAA	0.408000													5	60					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848848	98848848	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:98848848G>A	ENST00000554295.1	-	0	2075					NR_033801.1																						AGGTCAATGTGAGGTCGCCTT	0.522000													3	28					0	0	1	0	0
RPS21	6227	broad.mit.edu	37	20	60962424	60962424	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:60962424C>T	ENST00000370562.1	+	1	72	c.30C>T	c.(28-30)gaC>gaT	p.D10D	RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000343986.4_Silent_p.D10D|RPS21_ENST00000450116.2_Silent_p.D10D			P63220	RS21_HUMAN	ribosomal protein S21	10					endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGTTCGTGGACCTGTACGTGC	0.682000													3	14					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396092	10396092	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:10396092G>A	ENST00000328655.3	+	5	888	c.848G>A	c.(847-849)gGg>gAg	p.G283E	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	283	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACACCCCAGGGATATACACC	0.547000													11	140					0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340138	1340138	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:1340138G>A	ENST00000300574.2	-	2	693	c.553C>T	c.(553-555)Cct>Tct	p.P185S	CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.P185S	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	185	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TCGACGTAAGGGACTGGAATC	0.567000													19	183					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140792935	140792935	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140792935G>A	ENST00000398610.2	+	1	193	c.193G>A	c.(193-195)Gag>Aag	p.E65K	PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGCGGAGCGCGGAGT	0.607000													24	168					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75147661	75147661	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:75147661C>T	ENST00000300051.4	-	7	1052	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	LDHD_ENST00000450168.2_Missense_Mutation_p.E313K	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	336							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						AGCTGCTCCTCCAGTGCCTGC	0.627000													13	88					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Missense_Mutation	SNP	G	G	A	rs149915358	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:121739511G>A	ENST00000379538.3	+	3	287	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000261368.8_Silent_p.T27T|SNCAIP_ENST00000503116.2_Silent_p.T74T|SNCAIP_ENST00000504884.2_Silent_p.T27T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q	NM_001242935.1	NP_001229864.1	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					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)		CACTCAAGACGATCCCAGAAC	0.453000													15	151					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714594	13714594	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13714594C>T	ENST00000265104.4	-	75	13149	c.13045G>A	c.(13045-13047)Gat>Aat	p.D4349N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4349					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D4349Y(1)		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)					CGGGTCTCATCCCCTCCACCA	0.587000									Kartagener syndrome				16	138					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604592	179604592	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:179604592G>A	ENST00000589042.1	-	48	13592	c.13368C>T	c.(13366-13368)acC>acT	p.T4456T	TTN_ENST00000342175.6_Silent_p.T4285T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T4093T|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.T4139T|TTN_ENST00000359218.5_Silent_p.T4218T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4139	Ig-like 24.						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)			CAATAATGATGGTTACTTCTT	0.408000													9	176					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248058984	248058984	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248058984G>A	ENST00000537741.1	+	3	353	c.96G>A	c.(94-96)ctG>ctA	p.L32L	OR2W3_ENST00000360358.3_Silent_p.L32L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGTCATCCTGATCGCGTACC	0.572000													27	160					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110782771	110782771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:110782771C>T	ENST00000395494.2	+	16	3084	c.2521C>T	c.(2521-2523)Cag>Tag	p.Q841*	ATP2A2_ENST00000539276.2_Nonsense_Mutation_p.Q868*|ATP2A2_ENST00000308664.6_Nonsense_Mutation_p.Q868*			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	868					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GTCCTTCTACCAGCTGGTACT	0.493000													11	91					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52486252	52486252	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:52486252G>A	ENST00000232975.3	-	3	126	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	24	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CGAAGATGTCGAAGGCTGCCT	0.637000													11	141					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417622	178417622	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:178417622G>A	ENST00000231188.5	-	4	1161	c.983C>T	c.(982-984)aCc>aTc	p.T328I	GRM6_ENST00000517717.1_Missense_Mutation_p.T328I	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	328					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GGGCAGGATGGTGATGGCCCC	0.642000													5	28					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868008	89868008	+	Splice_Site	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:89868008G>A	ENST00000534061.1	+	1	312	c.82_splice	c.e1+1	p.G28_splice	NAALAD2_ENST00000321955.4_Splice_Site_p.G28_splice|NAALAD2_ENST00000525171.1_Splice_Site_p.G28_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.G28_splice	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	28					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATTTATGGTGGGTAAGTGAAC	0.552000													5	99					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175348711	175348711	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:175348711G>A	ENST00000367674.1	-	9	2648	c.1940C>T	c.(1939-1941)cCa>cTa	p.P647L	TNR_ENST00000263525.2_Missense_Mutation_p.P647L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	647	Fibronectin type-III 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)					CCTGGTGGTTGGACCAATGCC	0.537000													8	97					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378935	142378935	+	RNA	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:142378935C>T	ENST00000390398.3	+	0	240																											ATCCACTATTCCTATGGAGTT	0.463000													9	178					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035624	32035624	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:32035624C>T	ENST00000375244.3	-	18	6559	c.6358G>A	c.(6358-6360)Ggc>Agc	p.G2120S	TNXB_ENST00000375247.2_Missense_Mutation_p.G2120S			P22105	TENX_HUMAN	tenascin XB	2192	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2207C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCGAAGCGGCCCTGGGGGACG	0.687000													6	115					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766511	11766511	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:11766511G>A	ENST00000294485.5	+	2	331	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GGGCAAGAAGGAGTGGGGCCC	0.721000													3	30					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184716	72184716	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:72184716C>T	ENST00000537465.1	-	5	585	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E143K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	143										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)				ATTTCCTCCTCATAGAGAATC	0.507000													8	117					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72942158	72942158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:72942158G>T	ENST00000262209.4	-	24	3122	c.2915C>A	c.(2914-2916)tCa>tAa	p.S972*	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	972						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCTCTTCAATGATGCATGTTT	0.388000													11	70					1.08611e-07	1.09704e-07	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153077667	153077667	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:153077667G>A	ENST00000285900.5	+	9	1541	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	GRIA1_ENST00000518142.1_Missense_Mutation_p.D320N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D410N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D331N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D400N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D410N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	400					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)	AGCTGGGGGCGATAATTCAAG	0.478000													8	79					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703888	7703888	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:7703888C>T	ENST00000340209.4	+	9	1141	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	RBFOX1_ENST00000311745.5_Missense_Mutation_p.R297C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R297C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R277C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R320C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R294C|RBFOX1_ENST00000535565.2_Missense_Mutation_p.R234C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R320C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R277C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R250C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R297C			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	277					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						AGGCCGCGGTCGCACCGTGTA	0.731000													5	35					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423969	56423969	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56423969A>G	ENST00000588751.1	-	5	1238	c.1214T>C	c.(1213-1215)gTt>gCt	p.V405A	NLRP13_ENST00000342929.3_Missense_Mutation_p.V405A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	405	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATTTTCTCAACTTCACTTGA	0.458000													13	115					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36755340	36755340	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:36755340G>A	ENST00000354618.5	+	5	1944	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Missense_Mutation_p.D574N	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	574					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTCCGGATGGACTCTTTTGA	0.527000			T	USP6	aneurysmal bone cysts								11	108					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228032	3228032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:3228032C>T	ENST00000217939.6	-	7	8366	c.8212G>A	c.(8212-8214)Gag>Aag	p.E2738K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2738	Ig-like C2-type 12.					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)				GGGGTGGGCTCGCTGGTGATC	0.592000													6	100					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495587	205495587	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:205495587C>T	ENST00000360066.2	+	7	965	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L222L|CDK18_ENST00000506784.1_Silent_p.L252L	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	220	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						GTTTGAGTACCTGGTGAGAGT	0.592000													6	152					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105582194	105582194	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:105582194C>T	ENST00000258530.3	-	17	1716	c.1491G>A	c.(1489-1491)cgG>cgA	p.R497R	APPL2_ENST00000551662.1_Silent_p.R503R|APPL2_ENST00000539978.2_Silent_p.R454R	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	497	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATCCCAAAAACCGAACTATAA	0.428000													6	55					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108128381	108128381	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:108128381G>A	ENST00000422087.1	-	10	2106	c.1700C>T	c.(1699-1701)aCc>aTc	p.T567I	PNPLA8_ENST00000257694.8_Missense_Mutation_p.T567I|PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.T567I|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.T467I	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	567	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTTACTATGGTACTTACAGC	0.328000													5	59					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:196825573G>A	ENST00000312428.6	-	18	2402	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATAAAGACGAAGATAAGGG	0.403000													9	118					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8469765	8469765	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:8469765C>T	ENST00000389737.4	+	9	1619	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	TRMT44_ENST00000513449.2_Missense_Mutation_p.S299F	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		TGGGAGCTTTCCCCTTCTCCA	0.607000													7	69					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756547	32756547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:32756547G>A	ENST00000249007.4	+	2	887	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	RFPL3_ENST00000397468.1_Missense_Mutation_p.A199T|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.A199T	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	228	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCGCCTCTCTGCCAGCACGGT	0.517000													24	154					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450730	41450730	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:41450730G>A	ENST00000400454.1	-	26	5072	c.4595C>T	c.(4594-4596)tCc>tTc	p.S1532F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1532	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGATGTAGGACTTGGAGAG	0.582000													4	43					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652327	31652327	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:31652327C>T	ENST00000375494.3	+	7	717	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	239					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CTCTCATCTCCAACCAGTACA	0.582000													13	64					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64737875	64737875	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:64737875A>G	ENST00000374811.3	-	12	1959	c.1919T>C	c.(1918-1920)gTt>gCt	p.V640A	LAS1L_ENST00000374807.5_Missense_Mutation_p.V623A|LAS1L_ENST00000374804.5_Missense_Mutation_p.V581A|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	640						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACCTGAGCTAACCTGCCATGC	0.532000													7	56					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816662	90816662	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:90816662G>A	ENST00000394980.1	+	2	859	c.540G>A	c.(538-540)cgG>cgA	p.R180R	MMRN1_ENST00000394981.1_Silent_p.R146R|MMRN1_ENST00000264790.2_Silent_p.R180R			Q13201	MMRN1_HUMAN	multimerin 1	180					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGCCCCACGGGAAACATACC	0.473000													8	72					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75066821	75066821	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:75066821G>A	ENST00000453279.2	-	7	1316	c.452C>T	c.(451-453)tCc>tTc	p.S151F	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Missense_Mutation_p.S393F	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	393	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGAGCTGTAGGAACTGGTAAT	0.512000													48	335					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93244985	93244985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:93244985G>A	ENST00000322349.8	-	9	964	c.700C>T	c.(700-702)Caa>Taa	p.Q234*		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	234					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATTAGTGTTTGAACTTGGACC	0.363000													5	45					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558296	106558296	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:106558296G>A	ENST00000526355.1	-	8	2646	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	GUCY1A2_ENST00000282249.2_Silent_p.F757F|GUCY1A2_ENST00000347596.2_Silent_p.F747F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	726					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)		TCTCCCGGAGGAACATGGTGC	0.493000													16	143					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185975716	185975716	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:185975716G>A	ENST00000265022.3	-	17	1976	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	DGKG_ENST00000544847.1_Silent_p.F420F|DGKG_ENST00000344484.4_Silent_p.F454F|DGKG_ENST00000382164.4_Silent_p.F440F	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	479	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GAGTATCACGGAAAAAGTTCA	0.493000													7	67					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53756425	53756425	+	Silent	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:53756425C>T	ENST00000288139.3	+	13	1768	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	CACNA1D_ENST00000350061.5_Silent_p.I530I|CACNA1D_ENST00000422281.2_Silent_p.I530I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	530					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCTGGTTATCGTCCTGGTGT	0.488000													7	93					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79423632	79423632	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:79423632G>A	ENST00000554719.1	+	8	1695	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E402K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	172					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAATGACAACGAGTGGCACAC	0.473000													10	152					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123615768	123615768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:123615768C>T	ENST00000422452.2	-	22	3826	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	TENM1_ENST00000371130.3_Missense_Mutation_p.E1248K|TENM1_ENST00000461429.1_5'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAGAGTGATTCAGACACAGGG	0.418000													15	135					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:158815707G>A	ENST00000368141.4	+	5	1162	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	301	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338000													7	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091275	9091275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:9091275C>T	ENST00000397910.4	-	1	743	c.540G>A	c.(538-540)tgG>tgA	p.W180*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	180	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						ATCTTGTGTCCCAGGGGGTCT	0.473000													5	105					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732480	37732480	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:37732480G>A	ENST00000330843.4	-	3	1187	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.S392F|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.S244F|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.S244F	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	392					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGGGTCATAGACTTCAAGGA	0.587000													13	109					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882979	18882979	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:18882979C>T	ENST00000388995.6	-	4	921	c.698G>A	c.(697-699)aGa>aAa	p.R233K	FAM83G_ENST00000585154.2_Missense_Mutation_p.R233K|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R233K|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	233										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTCCGCACTCTGAGATTCTG	0.592000													11	139					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721113	70721113	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:70721113C>T	ENST00000226444.3	-	3	289	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	59					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTTATAGATCATATACACAA	0.363000													5	52					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089551	9089551	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:9089551C>T	ENST00000397910.4	-	1	2467	c.2264G>A	c.(2263-2265)gGg>gAg	p.G755E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	755	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						TTCAGGAGTCCCTGTGGTAAT	0.473000													16	188					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31631126	31631126	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:31631126G>A	ENST00000349552.1	+	14	1282	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	428						extracellular region	lipid binding										CCCACTCCCGGACTTTCTGGC	0.522000													8	103					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092842	30092842	+	RNA	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:30092842G>A	ENST00000567636.1	+	0	1217					NR_003558.1																						GGAAGTAGAGGAATTTTCAGA	0.423000													5	64					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23532226	23532226	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:23532226G>A	ENST00000262710.1	-	14	3296	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F	ACIN1_ENST00000457657.1_Missense_Mutation_p.S950F|ACIN1_ENST00000397341.3_Missense_Mutation_p.S232F|ACIN1_ENST00000357481.2_Missense_Mutation_p.S232F|ACIN1_ENST00000605057.1_Missense_Mutation_p.S932F|ACIN1_ENST00000557515.1_Missense_Mutation_p.S231F|ACIN1_ENST00000555053.1_Missense_Mutation_p.S977F|ACIN1_ENST00000338631.6_Missense_Mutation_p.S263F	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	990					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AATGGTAATGGAAACTCCGGA	0.473000													9	207					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058840	79058840	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:79058840C>T	ENST00000388820.4	-	19	3623	c.3413G>A	c.(3412-3414)gGc>gAc	p.G1138D		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGGGAGCGGCCGGCCTGGCT	0.672000													3	10					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44793170	44793170	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:44793170G>A	ENST00000291182.4	-	5	520	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	140					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)				ACTTGACAGGGGGAATCATGG	0.428000													11	146					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53564540	53564540	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:53564540G>A	ENST00000342160.3	-	77	12571	c.12114C>T	c.(12112-12114)tcC>tcT	p.S4038S	HUWE1_ENST00000262854.6_Silent_p.S4038S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4038	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTTCTTCGGGGGATTTGCGAT	0.547000													4	43					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655059	31655059	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:31655059G>A	ENST00000340345.4	-	1	217	c.192C>T	c.(190-192)tcC>tcT	p.S64S		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	64						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTTCACCGTAGGATTCTTGGC	0.522000													12	125					0	0	1	0	0
B4GALT3	8703	broad.mit.edu	37	1	161145865	161145865	+	Splice_Site	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:161145865C>T	ENST00000319769.5	-	3	209		c.e3-1		PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_5'UTR|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3						post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGGGTGAGATCTAGGGAGGGA	0.602000													10	79					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783205	3783205	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:3783205C>T	ENST00000310132.6	-	7	993	c.595G>A	c.(595-597)Gac>Aac	p.D199N	MATK_ENST00000585778.1_Missense_Mutation_p.D199N|MATK_ENST00000395040.2_Missense_Mutation_p.D158N|MATK_ENST00000395045.2_Missense_Mutation_p.D200N	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	199	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCCTTGTCCTTGCTGTAA	0.657000													11	70					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987431	22987431	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:22987431G>A	ENST00000509305.1	+	3	654	c.308G>A	c.(307-309)gGa>gAa	p.G103E	C1QB_ENST00000314933.6_Missense_Mutation_p.G105E			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	105	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGGCCCCTGGAGCCCCAGGC	0.632000													8	115					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412412	50412412	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:50412412C>T	ENST00000596217.1	-	2	2540	c.653G>A	c.(652-654)gGg>gAg	p.G218E	NUP62_ENST00000597029.1_Missense_Mutation_p.G218E|NUP62_ENST00000413454.1_Missense_Mutation_p.G218E|NUP62_ENST00000352066.3_Missense_Mutation_p.G218E|IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.G218E|NUP62_ENST00000597723.1_Missense_Mutation_p.G218E			P37198	NUP62_HUMAN	nucleoporin 62kDa	218	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				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)		GAGGCTGGGCCCAGTGCTGGT	0.647000													6	153					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362849	128362849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:128362849C>T	ENST00000262462.4	+	7	2289	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.R427*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.R427*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	427					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTCATTTCTCGAGTGAATGC	0.368000													16	82					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	9991705	9991705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:9991705C>T	ENST00000263663.5	+	4	429	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	81					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAAGGTTTCCAGTATATTCT	0.343000													7	59					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285330	74285330	+	Missense_Mutation	SNP	G	G	A	rs76587671		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:74285330G>A	ENST00000295897.4	+	13	1848	c.1759G>A	c.(1759-1761)Gat>Aat	p.D587N	ALB_ENST00000401494.3_Missense_Mutation_p.D472N|ALB_ENST00000415165.2_Missense_Mutation_p.D395N|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.D587N|ALB_ENST00000503124.1_Missense_Mutation_p.D437N	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	587	Albumin 3.		D -> N (in Fukuoka-1/Paris-2).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAAGGCTGACGATAAGGAGAC	0.438000													6	124					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995253	140995253	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:140995253C>T	ENST00000285879.4	+	4	2349	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	688							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)					GGGGAGGATTCCCTGTCTCCT	0.572000										HNSCC(15;0.026)			28	211					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50526115	50526115	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:50526115G>A	ENST00000267842.5	+	9	1838	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	SLC27A2_ENST00000380902.4_Missense_Mutation_p.E483K|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E301K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	536					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)		AGAAAACCATGAATTTGATGG	0.378000													6	53					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348285	7348285	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:7348285G>A	ENST00000486284.1	+	4	1253	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	GRM7_ENST00000403881.1_Missense_Mutation_p.E327K|GRM7_ENST00000357716.4_Missense_Mutation_p.E327K|GRM7_ENST00000402647.2_Missense_Mutation_p.E327K|GRM7_ENST00000389336.4_Missense_Mutation_p.E327K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	327					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCACCAGCATGAAGATATCGC	0.522000													12	113					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046997	55046997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:55046997C>T	ENST00000335056.3	+	4	580	c.542C>T	c.(541-543)tCc>tTc	p.S181F	KIR3DX1_ENST00000482404.1_3'UTR														p.S181F(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCTGTCTTTTCCATGGGTCCT	0.537000													10	86					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940658	113940658	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:113940658G>A	ENST00000245796.6	+	2	820	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PSD4_ENST00000441564.2_Missense_Mutation_p.E209K	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	209					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						ACCTGAGAATGAAGACTCAGG	0.642000													7	75					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947660	237947660	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:237947660G>A	ENST00000366574.2	+	90	12965	c.12648G>A	c.(12646-12648)gcG>gcA	p.A4216A	RYR2_ENST00000360064.6_Silent_p.A4222A|RYR2_ENST00000542537.1_Silent_p.A4200A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4214A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGGTCAGCGAATAAGGAAG	0.542000													5	110					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508050	155508050	+	Silent	SNP	G	G	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:155508050G>A	ENST00000302053.3	-	5	609	c.531C>T	c.(529-531)atC>atT	p.I177I	FGA_ENST00000403106.3_Silent_p.I177I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	177					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GACAAGATCGGATCTTAATAT	0.398000													8	72					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227660301	227660302	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:227660301_227660302insT	ENST00000305123.4	-	1	4173_4174	c.3153_3154insA	c.(3151-3156)gcagctfs	p.A1052fs		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1052					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCCAGCTCTGCTGCCCCTT	0.668													9	77	---	---	---	---					
CTD-3046C4.1	0	broad.mit.edu	37	8	64322188	64322188	+	RNA	DEL	A	A	-	rs34341678		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:64322188delA	ENST00000521221.1	-	0	694																											GCTCCTGGTTAAAAAAAAAAA	0.483													3	4	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													4	4	---	---	---	---					
IGHV4-31	28396	broad.mit.edu	37	14	106805656	106805656	+	RNA	DEL	G	G	-	rs112628447		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:106805656delG	ENST00000438142.2	-	0	60																											TTCTTGCACAGGAGGTCCAGG	0.502													9	24	---	---	---	---					
LRRC37A16P	651250	broad.mit.edu	37	17	66137594	66137595	+	RNA	INS	-	-	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:66137594_66137595insA	ENST00000590019.1	-	0	151																											ACTTTTAGGTTAAAAAAATCAT	0.292													7	5	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													4	5	---	---	---	---					
FAM58A	92002	broad.mit.edu	37	X	152861594	152861597	+	Frame_Shift_Del	DEL	TAAA	TAAA	-			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:152861594_152861597delTAAA	ENST00000406277.2	-	4	257_260	c.155_158delTTTA	c.(154-159)acfs	p.IY52fs	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	54					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTATGGTAAATGGTGCAAGC	0.525													22	233	---	---	---	---