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
CHD1L	9557	broad.mit.edu	37	1	146747865	146747865	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:146747865G>C	ENST00000369258.4	+	14	1503	c.1483G>C	c.(1483-1485)Gaa>Caa	p.E495Q	CHD1L_ENST00000431239.1_Missense_Mutation_p.E401Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.E214Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E291Q|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	495	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CATGATCATAGAAGGAGGCCA	0.453000													6	102					0	0	0.001168	0	0
GNAL	2774	broad.mit.edu	37	18	11868555	11868555	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:11868555C>T	ENST00000334049.6	+	9	1532	c.924C>T	c.(922-924)atC>atT	p.I308I	GNAL_ENST00000423027.3_Silent_p.I231I|GNAL_ENST00000269162.5_Silent_p.I231I|GNAL_ENST00000602628.1_Silent_p.I24I|GNAL_ENST00000535121.1_Silent_p.I231I|GNAL_ENST00000535980.1_3'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	231					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TCACAGCTATCATTTACGTCG	0.463000													11	223					0	0	0.010729	0	0
LAMA5	3911	broad.mit.edu	37	20	60887107	60887107	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:60887107C>T	ENST00000252999.3	-	70	9571		c.e70-1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAGCCCATCCTGGGGACGGC	0.672000													21	23					0	0	0.012319	0	0
FAM63A	55793	broad.mit.edu	37	1	150974945	150974945	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:150974945C>A	ENST00000361936.5	-	3	1103	c.149G>T	c.(148-150)cGg>cTg	p.R50L	FAM63A_ENST00000361738.6_Missense_Mutation_p.R98L|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	50							protein binding	p.R50Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGGCTCCCGTTCTCTAGC	0.592000													20	248					7.45023e-12	9.58621e-12	0.010504	1	0
IGKV3-11	28914	broad.mit.edu	37	2	89326800	89326800	+	RNA	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:89326800T>C	ENST00000483158.1	-	0	259																											CCCTGTTGGATGCATCATAGA	0.572000													26	94					0	0	0.004656	0	0
SI	6476	broad.mit.edu	37	3	164750444	164750444	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:164750444G>T	ENST00000264382.3	-	24	2664	c.2602C>A	c.(2602-2604)Cag>Aag	p.Q868K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	868	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCTTCCTGATATGATGAA	0.343000										HNSCC(35;0.089)			16	21					2.35188e-11	2.98493e-11	0.006122	1	0
LTBP1	4052	broad.mit.edu	37	2	33246136	33246136	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:33246136G>T	ENST00000404816.2	+	3	1079	c.726G>T	c.(724-726)tgG>tgT	p.W242C	LTBP1_ENST00000354476.3_Missense_Mutation_p.W242C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	242					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTCCTCGTGGGGCCCTCCTG	0.562000													65	83					6.1719e-39	9.86709e-39	0.014410	1	0
ZNF200	7752	broad.mit.edu	37	16	3274518	3274518	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:3274518C>T	ENST00000431561.3	-	5	1174	c.562G>A	c.(562-564)Gat>Aat	p.D188N	ZNF200_ENST00000396871.4_Missense_Mutation_p.D187N|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.D188N|ZNF200_ENST00000396868.3_Missense_Mutation_p.D187N|ZNF200_ENST00000396870.4_Missense_Mutation_p.D187N|ZNF200_ENST00000575948.1_Missense_Mutation_p.D187N	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AAGGAAGAATCCATTTCATCA	0.398000													34	57					0	0	0.003755	0	0
CXorf38	159013	broad.mit.edu	37	X	40498350	40498350	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:40498350G>T	ENST00000378426.1	-	2	622	c.25C>A	c.(25-27)Caa>Aaa	p.Q9K	CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000327877.5_Missense_Mutation_p.Q128K|CXorf38_ENST00000378421.1_Missense_Mutation_p.Q9K			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	128										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						TCAGGTCCTTGTTTGTCTGCT	0.498000													13	75					6.72482e-11	8.42016e-11	0.003163	1	0
DCST2	127579	broad.mit.edu	37	1	155004083	155004083	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:155004083G>A	ENST00000368424.3	-	4	764	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	DCST2_ENST00000295536.5_Missense_Mutation_p.P236S	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	236						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTTTGAAGGGCATGAGCACG	0.592000													32	76					0	0	0.003755	0	0
OR2B6	26212	broad.mit.edu	37	6	27925284	27925284	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:27925284G>A	ENST00000244623.1	+	1	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCAGCATCAGGAAAGTAATC	0.428000													30	16					0	0	0.008361	0	0
TEX13A	56157	broad.mit.edu	37	X	104463830	104463830	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:104463830G>T	ENST00000372578.3	-	3	1159	c.1048C>A	c.(1048-1050)Ccc>Acc	p.P350T	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.P349H|TEX13A_ENST00000372575.1_Missense_Mutation_p.P350T|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TATTCTGTGGGGCCCCCCATC	0.567000													46	26					5.34276e-22	7.89752e-22	0.014410	1	0
DCX	1641	broad.mit.edu	37	X	110654066	110654066	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:110654066A>G	ENST00000338081.3	-	1	308	c.137T>C	c.(136-138)gTt>gCt	p.V46A	DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356915.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	46					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CACATGACTAACAGTTGTAAA	0.428000													107	64					0	0	0.014410	0	0
XPC	7508	broad.mit.edu	37	3	14220052	14220052	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14220052G>C	ENST00000285021.7	-	1	231	c.17C>G	c.(16-18)gCg>gGg	p.A6G	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.A6G	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	6					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGCCGGCCGCGCGTTTCCG	0.701000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	37					0	0	0.000602	0	0
PTPRM	5797	broad.mit.edu	37	18	7888335	7888335	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:7888335C>A	ENST00000332175.8	+	3	1465	c.428C>A	c.(427-429)gCa>gAa	p.A143E	PTPRM_ENST00000580170.1_Missense_Mutation_p.A143E|PTPRM_ENST00000400053.4_Missense_Mutation_p.A81E|PTPRM_ENST00000400060.4_Missense_Mutation_p.A143E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	143	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGAACAGGGCAGAACTGGCC	0.403000													7	145					5.4927e-09	6.55779e-09	0.004482	1	0
ADCY6	112	broad.mit.edu	37	12	49164737	49164737	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:49164737C>A	ENST00000307885.4	-	19	3762	c.3068G>T	c.(3067-3069)cGg>cTg	p.R1023L	ADCY6_ENST00000357869.3_Missense_Mutation_p.R970L|ADCY6_ENST00000550422.1_Missense_Mutation_p.R970L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1023					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGCCGGAACCGCTCCTCGCT	0.577000													14	24					1.05317e-09	1.28414e-09	0.002450	1	0
ZNF74	7625	broad.mit.edu	37	22	20760750	20760750	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:20760750A>C	ENST00000400451.2	+	5	1941	c.1427A>C	c.(1426-1428)gAg>gCg	p.E476A	ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.E476A|ZNF74_ENST00000405993.1_Missense_Mutation_p.E444A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	476					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AAGTGCAACGAGTGCGGCAAA	0.642000													25	53					0	0	0.003954	0	0
TTBK2	146057	broad.mit.edu	37	15	43122142	43122142	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:43122142G>C	ENST00000267890.6	-	5	534	c.426C>G	c.(424-426)atC>atG	p.I142M	TTBK2_ENST00000567274.1_Missense_Mutation_p.I142M|TTBK2_ENST00000567840.1_Missense_Mutation_p.I142M	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	142	Protein kinase.				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)		CTACCGGTTTGATGTCTCGAT	0.408000													24	65					0	0	0.003954	0	0
CLASRP	11129	broad.mit.edu	37	19	45570821	45570821	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:45570821G>T	ENST00000544944.2	+	13	2328	c.1636G>T	c.(1636-1638)Gcg>Tcg	p.A546S	CLASRP_ENST00000391953.4_Missense_Mutation_p.A484S|CLASRP_ENST00000221455.3_Missense_Mutation_p.A546S			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	546	Arg-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CAGGCCGGCCGCGTCCCCTGC	0.672000													14	13					6.31663e-08	7.35295e-08	0.003163	1	0
RSPO4	343637	broad.mit.edu	37	20	947818	947818	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:947818C>T	ENST00000217260.4	-	3	504	c.409_splice	c.e3+1	p.Q136_splice	RSPO4_ENST00000400634.2_Splice_Site_p.Q136_splice	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	136					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCCACTCACCCTGGCACTCCC	0.627000													6	29					0	0	0.001984	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168743	60168743	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:60168743A>G	ENST00000261187.4	+	4	831	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	SLC16A7_ENST00000552024.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000543448.1_Missense_Mutation_p.I124V|SLC16A7_ENST00000547379.1_Missense_Mutation_p.I223V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.I223V	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	223						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCCAAAGAAAATCAAAACGAA	0.363000													15	17					0	0	0.002450	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847817	40847817	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:40847817A>T	ENST00000264638.4	+	19	3488	c.3271A>T	c.(3271-3273)Agc>Tgc	p.S1091C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1091	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTTCAGCACCAGCTCCGCCCC	0.617000													34	47					0	0	0.012213	0	0
HPCAL1	3241	broad.mit.edu	37	2	10563138	10563138	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:10563138G>A	ENST00000381765.3	+	5	934	c.408G>A	c.(406-408)atG>atA	p.M136I	HPCAL1_ENST00000307845.3_Missense_Mutation_p.M136I	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	136							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		CGTCTGTGATGAAGATGCCGG	0.622000													11	36					0	0	0.008291	0	0
TMEM125	128218	broad.mit.edu	37	1	43738818	43738818	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:43738818G>T	ENST00000432792.2	+	4	995	c.425G>T	c.(424-426)cGg>cTg	p.R142L	TMEM125_ENST00000439858.1_Missense_Mutation_p.R142L			Q96AQ2	TM125_HUMAN	transmembrane protein 125	142						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCTGCTCGGCCGCTGGCC	0.706000													9	5					2.74318e-10	3.38917e-10	0.006214	1	0
PLCB1	23236	broad.mit.edu	37	20	8609052	8609052	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:8609052G>T	ENST00000378641.3	+	4	833	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	PLCB1_ENST00000338037.6_Missense_Mutation_p.V120L|PLCB1_ENST00000378637.2_Missense_Mutation_p.V120L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	120					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						TTTGAATCTCGTGGCTTTCCA	0.478000													30	67					8.16721e-17	1.12469e-16	0.010818	1	0
TTN	7273	broad.mit.edu	37	2	179412806	179412806	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179412806C>T	ENST00000589042.1	-	339	93771	c.93547G>A	c.(93547-93549)Gaa>Aaa	p.E31183K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22118K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22243K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22310K|TTN_ENST00000342992.6_Missense_Mutation_p.E28615K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29542K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29542	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)			ACACGGAATTCATATTCAGTT	0.453000													93	88					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425488	25425488	+	RNA	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:25425488C>T	ENST00000441592.2	+	0	476																											TGCATTGGGTCCGCTGGCCCC	0.617000													10	10					0	0	0.006214	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229081	90229081	+	RNA	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:90229081C>A	ENST00000390278.2	+	0	37																											ATGAGGGTCCCCGCTCAGCTC	0.567000													55	84					2.2129e-31	3.47076e-31	0.014410	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789267	140789267	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140789267G>T	ENST00000520790.1	+	1	1498	c.1498G>T	c.(1498-1500)Gcg>Tcg	p.A500S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCCCTGGCGGTGTCGTC	0.637000													15	7					2.35188e-11	2.98493e-11	0.006122	1	0
TRBV2	28620	broad.mit.edu	37	7	142000815	142000815	+	RNA	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:142000815C>A	ENST00000455382.2	+	0	69																											CTGCTGTGATCCTGCCATGGA	0.512000													10	53					2.17888e-05	2.36973e-05	0.006214	1	0
NUP54	53371	broad.mit.edu	37	4	77039260	77039260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:77039260G>A	ENST00000264883.3	-	10	1392	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q370*|NUP54_ENST00000342467.6_Nonsense_Mutation_p.Q202*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.Q238*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	418	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AGTTCACCCTGAATCGTATCC	0.383000													10	55					0	0	0.008291	0	0
HCLS1	3059	broad.mit.edu	37	3	121352001	121352001	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:121352001C>A	ENST00000314583.3	-	11	1012	c.921G>T	c.(919-921)ggG>ggT	p.G307G	HCLS1_ENST00000428394.2_Silent_p.G270G|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	307					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ATGGAGGAGTCCCAACTGGAG	0.517000													8	5					0.00307968	0.00320441	0.003080	1	0
SOGA2	23255	broad.mit.edu	37	18	8786039	8786039	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:8786039G>A	ENST00000359865.3	+	7	1979	c.1837G>A	c.(1837-1839)Ggg>Agg	p.G613R	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.G613R|SOGA2_ENST00000517570.1_Missense_Mutation_p.G613R|SOGA2_ENST00000306329.11_Missense_Mutation_p.G973R	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	964																	CCGCGCAGACGGGGACACCGG	0.726000													17	3					0	0	0.004990	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42278076	42278076	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:42278076G>A	ENST00000399518.3	-	18	2649	c.2163C>T	c.(2161-2163)ctC>ctT	p.L721L	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.L692L	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	709	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGTGGATGATGAGGTCGGCTT	0.617000													6	10					0	0	0.001168	0	0
AFF3	3899	broad.mit.edu	37	2	100623731	100623731	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:100623731G>A	ENST00000317233.4	-	5	601	c.366C>T	c.(364-366)ccC>ccT	p.P122P	AFF3_ENST00000409579.1_Silent_p.P147P|AFF3_ENST00000409236.1_Silent_p.P122P|AFF3_ENST00000356421.2_Silent_p.P147P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	122					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGATAGACGAGGGCTGGTTCT	0.537000													41	58					0	0	0.013114	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232294	12232294	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:12232294C>T	ENST00000266434.4	+	2	250	c.55C>T	c.(55-57)Cta>Tta	p.L19L	BCL2L14_ENST00000586576.1_Silent_p.L52L|BCL2L14_ENST00000396367.1_Silent_p.L19L|BCL2L14_ENST00000589718.1_Silent_p.L19L|BCL2L14_ENST00000396369.1_Silent_p.L19L|BCL2L14_ENST00000308721.5_Silent_p.L19L	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	19					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGATGATGACCTAAACACCAT	0.483000													13	96					0	0	0.002450	0	0
DLC1	10395	broad.mit.edu	37	8	13072141	13072141	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:13072141G>C	ENST00000316609.5	-	6	1779	c.1491C>G	c.(1489-1491)atC>atG	p.I497M	DLC1_ENST00000276297.4_Intron|DLC1_ENST00000512044.2_Intron			Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	0	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGCCTAGGTGATGTTTTCTT	0.498000													50	151					0	0	0.014410	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727787	20727787	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:20727787A>G	ENST00000427401.4	-	4	1316	c.1222T>C	c.(1222-1224)Tac>Cac	p.Y408H		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	408					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAAGAGGAGTACTTAAAGGCT	0.428000													21	43					0	0	0.008871	0	0
PROX1	5629	broad.mit.edu	37	1	214170863	214170863	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:214170863G>A	ENST00000366958.4	+	2	1593	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PROX1_ENST00000261454.4_Missense_Mutation_p.G329S|PROX1_ENST00000435016.1_Missense_Mutation_p.G329S|PROX1_ENST00000498508.2_Missense_Mutation_p.G329S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	329					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAAGCGAGAAGGCAACAACAA	0.493000													9	50					0	0	0.004482	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318732	21318732	+	Silent	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21318732G>C	ENST00000583088.1	+	3	973	c.78G>C	c.(76-78)tcG>tcC	p.S26S	KCNJ12_ENST00000331718.5_Silent_p.S26S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCACCATGTCGGGCGCCAACG	0.662000										Prostate(3;0.18)			6	43					0	0	0.001168	0	0
STRN3	29966	broad.mit.edu	37	14	31405799	31405799	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:31405799A>C	ENST00000355683.5	-	6	963	c.748T>G	c.(748-750)Ttc>Gtc	p.F250V	STRN3_ENST00000357479.5_Missense_Mutation_p.F250V	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	250					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTTTCTAAGAAATTGAACGTC	0.383000													51	17					0	0	0.014410	0	0
LILRB4	11006	broad.mit.edu	37	19	55177323	55177323	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55177323T>A	ENST00000391736.1	+	9	1130	c.815T>A	c.(814-816)cTc>cAc	p.L272H	LILRB4_ENST00000391733.3_Missense_Mutation_p.L272H|LILRB4_ENST00000430952.2_Missense_Mutation_p.L272H|LILRB4_ENST00000270452.2_Missense_Mutation_p.L272H|LILRB4_ENST00000391734.3_Missense_Mutation_p.L272H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	272						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		Atcctgcttctctccctcctc	0.557000													8	20					0	0	0.004482	0	0
TLR7	51284	broad.mit.edu	37	X	12905663	12905663	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:12905663A>G	ENST00000380659.3	+	3	2175	c.2036A>G	c.(2035-2037)aAt>aGt	p.N679S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	679					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AATCTAAAGAATCTCTCTTTG	0.393000													40	131					0	0	0.006999	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140270	40140270	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:40140270C>T	ENST00000325157.6	-	7	1488	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	413										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGAAGATGCTCCCTCAGAAGC	0.363000													8	41					0	0	0.004482	0	0
REM2	161253	broad.mit.edu	37	14	23354038	23354038	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23354038G>C	ENST00000267396.4	+	2	382	c.259G>C	c.(259-261)Gac>Cac	p.D87H	REM2_ENST00000536884.1_Missense_Mutation_p.D87H	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	87					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGATGAACTTGACTGGCCACC	0.622000													7	81					0	0	0.004482	0	0
SYNJ2	8871	broad.mit.edu	37	6	158454617	158454617	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:158454617G>T	ENST00000355585.4	+	4	691	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	SYNJ2_ENST00000367122.2_Missense_Mutation_p.V206F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.V206F|SYNJ2_ENST00000449859.2_Missense_Mutation_p.V155F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	206	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGCCTGCCTCGTCTCTCGCGT	0.622000													23	32					4.72057e-08	5.51227e-08	0.003954	1	0
NSMAF	8439	broad.mit.edu	37	8	59514633	59514633	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:59514633C>A	ENST00000038176.3	-	14	1321	c.1109G>T	c.(1108-1110)cGg>cTg	p.R370L	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.R401L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	370	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTCTCCAGCCGTTCCTTATT	0.413000													39	112					1.7489e-18	2.45374e-18	0.011902	1	0
OR52A5	390054	broad.mit.edu	37	11	5153170	5153170	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5153170C>T	ENST00000307388.1	-	1	702	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATCGTGCCTCCTTCTGGGGC	0.418000													48	47					0	0	0.013114	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21168707	21168707	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:21168707C>A	ENST00000421593.2	+	1	78	c.78C>A	c.(76-78)ttC>ttA	p.F26L	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATGGAAGCTTCGAAATAGGTA	0.308000													10	15					3.86212e-05	4.16393e-05	0.008291	1	0
INADL	10207	broad.mit.edu	37	1	62340990	62340990	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:62340990G>T	ENST00000371158.2	+	21	3025	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	INADL_ENST00000316485.6_Missense_Mutation_p.D971Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	971					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGCAGATTTGACGACCTGGA	0.338000													34	13					7.83172e-31	1.22319e-30	0.004289	1	0
PRMT3	10196	broad.mit.edu	37	11	20483570	20483570	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:20483570G>A	ENST00000331079.6	+	12	1334	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	PRMT3_ENST00000437750.2_Missense_Mutation_p.V311M	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	373							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AGTGAGTGATGTGAATAAACA	0.388000													43	91					0	0	0.011902	0	0
CCDC8	83987	broad.mit.edu	37	19	46914604	46914604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:46914604C>T	ENST00000307522.3	-	1	2237	c.1464G>A	c.(1462-1464)tgG>tgA	p.W488*		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	488						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCTTGCAAAACCACGAAAAGC	0.622000													37	57					0	0	0.003755	0	0
PORCN	64840	broad.mit.edu	37	X	48370283	48370283	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48370283G>A	ENST00000367574.4	+	4	625	c.120G>A	c.(118-120)gaG>gaA	p.E40E	PORCN_ENST00000537758.1_Silent_p.E111E|PORCN_ENST00000359882.4_Silent_p.E111E|PORCN_ENST00000361988.3_Silent_p.E111E|PORCN_ENST00000355961.4_Silent_p.E111E|PORCN_ENST00000326194.6_Silent_p.E111E|PORCN_ENST00000355092.3_Silent_p.E111E			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	111	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCTCAGTGAGATGCACATGG	0.597000											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	61					0	0	0.007413	0	0
NPTXR	23467	broad.mit.edu	37	22	39219124	39219124	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:39219124G>C	ENST00000333039.2	-	4	1365	c.1242C>G	c.(1240-1242)atC>atG	p.I414M		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	414	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CATGAGGCTTGATGGGGTGCC	0.602000													28	67					0	0	0.012213	0	0
ATP10B	23120	broad.mit.edu	37	5	160033898	160033898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:160033898C>A	ENST00000327245.5	-	19	3880	c.3034G>T	c.(3034-3036)Gag>Tag	p.E1012*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1012					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTCTTCTCTAGCTTTCCC	0.507000													51	40					4.86159e-25	7.37655e-25	0.014410	1	0
ADRA1A	148	broad.mit.edu	37	8	26721992	26721992	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:26721992C>G	ENST00000380573.3	-	2	1518	c.495G>C	c.(493-495)tgG>tgC	p.W165C	ADRA1A_ENST00000354550.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.W165C|ADRA1A_ENST00000519229.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.W165C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.W165C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.W165C|ADRA1A_ENST00000380572.3_Missense_Mutation_p.W165C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.W165C			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	165					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CCGGCTGCCTCCAGCCGAACA	0.637000													30	32					0	0	0.013726	0	0
DEDD	9191	broad.mit.edu	37	1	161093691	161093691	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:161093691C>G	ENST00000392188.1	-	4	605	c.371G>C	c.(370-372)cGc>cCc	p.R124P	DEDD_ENST00000368005.1_Missense_Mutation_p.R124P|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000458050.2_Missense_Mutation_p.R124P|DEDD_ENST00000545495.1_Missense_Mutation_p.R124P|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368006.3_Missense_Mutation_p.R124P			O75618	DEDD_HUMAN	death effector domain containing	124					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTCACATAGCGAATTGATGT	0.483000													37	97					0	0	0.007835	0	0
REM2	161253	broad.mit.edu	37	14	23355356	23355356	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23355356G>A	ENST00000267396.4	+	4	766	c.643G>A	c.(643-645)Gct>Act	p.A215T	REM2_ENST00000536884.1_Missense_Mutation_p.G190D	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	215					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCGGCTCCGGGCTGGGAGGCC	0.597000													7	61					0	0	0.003080	0	0
CHD3	1107	broad.mit.edu	37	17	7814256	7814256	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7814256A>G	ENST00000380358.4	+	39	6024	c.6023A>G	c.(6022-6024)aAt>aGt	p.N2008S	CHD3_ENST00000330494.7_Missense_Mutation_p.N1949S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1915S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1949					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGGCGCCAATTACAGCCAG	0.632000													63	92					0	0	0.014410	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493499	65493499	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:65493499G>A	ENST00000321870.1	+	1	686	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCGCCGCCTCGGGAACGCCCG	0.736000													8	5					0	0	0.006214	0	0
BIRC6	57448	broad.mit.edu	37	2	32740755	32740755	+	Missense_Mutation	SNP	G	G	A	rs138598333	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:32740755G>A	ENST00000421745.2	+	55	11401	c.11267G>A	c.(11266-11268)cGc>cAc	p.R3756H		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3756					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)					ACTCAACAGCGCACAGCAATT	0.433000													11	47					0	0	0.008291	0	0
NOX5	79400	broad.mit.edu	37	15	69347810	69347810	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:69347810C>T	ENST00000260364.5	+	16	2383	c.2082C>T	c.(2080-2082)cgC>cgT	p.R694R	NOX5_ENST00000388866.3_Silent_p.R712R|NOX5_ENST00000455873.3_Silent_p.R677R|NOX5_ENST00000448182.3_Silent_p.R666R|NOX5_ENST00000530406.2_Silent_p.R684R			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	712					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCAGACGCGCACCCAGCCTG	0.607000													18	27					0	0	0.007413	0	0
TRIM8	81603	broad.mit.edu	37	10	104416663	104416663	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:104416663C>T	ENST00000302424.6	+	6	1330	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	403						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TACGGGGCGGCGGGCACAGCC	0.711000													38	23					0	0	0.004878	0	0
PALB2	79728	broad.mit.edu	37	16	23647270	23647270	+	Silent	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:23647270A>C	ENST00000261584.4	-	4	749	c.597T>G	c.(595-597)ctT>ctG	p.L199L		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	199	Interaction with BRCA1.|Interaction with RAD51.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAGACTTAAAAGGTGAGTTC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					93	135					0	0	0.014410	0	0
CAMK1G	57172	broad.mit.edu	37	1	209781228	209781228	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:209781228C>A	ENST00000009105.1	+	7	830	c.585C>A	c.(583-585)ccC>ccA	p.P195P	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.P195P			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	195	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCAGAAACCCTACAGCAAGG	0.597000													56	87					3.89483e-19	5.55871e-19	0.014410	1	0
CDH1	999	broad.mit.edu	37	16	68842735	68842735	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:68842735G>A	ENST00000261769.5	+	5	862	c.671G>A	c.(670-672)cGc>cAc	p.R224H	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R224H	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	224	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GATAGAGAACGCATTGCCACA	0.483000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				4	30					0	0	0.009096	0	0
UNC13C	440279	broad.mit.edu	37	15	54305610	54305610	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:54305610G>T	ENST00000545554.1	+	1	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D|UNC13C_ENST00000260323.11_Missense_Mutation_p.E170D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	170					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)		CTGACGGGGAGCGTACTCTAC	0.473000													25	70					1.42536e-11	1.81831e-11	0.004656	1	0
CDKL5	6792	broad.mit.edu	37	X	18622489	18622489	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:18622489A>G	ENST00000379989.3	+	13	1730	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C	CDKL5_ENST00000379996.3_Missense_Mutation_p.Y482C|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	482					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGTCCCTCCTACAGGACCAAG	0.532000													21	114					0	0	0.012319	0	0
FREM2	341640	broad.mit.edu	37	13	39262131	39262131	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:39262131G>T	ENST00000280481.7	+	1	866	c.650G>T	c.(649-651)cGc>cTc	p.R217L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	217					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGGAGTGCCGCGTGGGCATC	0.682000													34	11					9.17885e-22	1.35143e-21	0.003271	1	0
SPEF2	79925	broad.mit.edu	37	5	35654802	35654802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:35654802C>T	ENST00000440995.2	+	7	952	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q318*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q318*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	318					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTAATGGACCAGTTAATAGC	0.383000													45	43					0	0	0.014410	0	0
SGCD	6444	broad.mit.edu	37	5	156184595	156184595	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:156184595G>T	ENST00000435422.3	+	7	1063	c.576G>T	c.(574-576)ttG>ttT	p.L192F	SGCD_ENST00000447401.1_Missense_Mutation_p.L193F|SGCD_ENST00000517913.1_Missense_Mutation_p.L193F|SGCD_ENST00000337851.4_Missense_Mutation_p.L193F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	192					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTCAGGTTGGAGTCCCCAA	0.443000													9	2					2.80697e-09	3.38381e-09	0.010729	1	0
NRXN2	9379	broad.mit.edu	37	11	64415749	64415749	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:64415749C>A	ENST00000265459.6	-	17	3806	c.3345G>T	c.(3343-3345)tgG>tgT	p.W1115C	NRXN2_ENST00000377551.1_Missense_Mutation_p.W1115C|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.W1108C|NRXN2_ENST00000377559.3_Missense_Mutation_p.W1075C	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1115	EGF-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAAGCCATCCCACTGCTGCA	0.627000													34	62					1.62565e-12	2.12103e-12	0.012213	1	0
CRB1	23418	broad.mit.edu	37	1	197404354	197404354	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:197404354C>A	ENST00000367397.1	+	5	2362	c.1504C>A	c.(1504-1506)Cag>Aag	p.Q502K	CRB1_ENST00000535699.1_Missense_Mutation_p.Q1097K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1121K|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1009K|CRB1_ENST00000544212.1_Missense_Mutation_p.Q602K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1121	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAATAAACCTCAGGAAGAGCA	0.398000													30	72					1.13719e-10	1.41911e-10	0.008361	1	0
MUC16	94025	broad.mit.edu	37	19	9074423	9074423	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:9074423G>T	ENST00000397910.4	-	3	13226	c.13023C>A	c.(13021-13023)acC>acA	p.T4341T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4343	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGTGTCTTGGTGACATGAG	0.483000													4	26					1.06961e-07	1.23736e-07	0.003080	1	0
TSHZ1	10194	broad.mit.edu	37	18	72997606	72997606	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:72997606A>T	ENST00000322038.5	+	2	693	c.109A>T	c.(109-111)Agc>Tgc	p.S37C	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S82C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	82						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGTGAGAGCAGCGACCAGCT	0.597000													9	10					0	0	0.004482	0	0
NRG2	9542	broad.mit.edu	37	5	139231313	139231313	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:139231313G>T	ENST00000541337.1	-	7	1679	c.1450C>A	c.(1450-1452)Cca>Aca	p.P484T	NRG2_ENST00000289409.4_Missense_Mutation_p.P544T|NRG2_ENST00000340391.3_Missense_Mutation_p.P347T|NRG2_ENST00000289422.7_Missense_Mutation_p.P558T|NRG2_ENST00000394770.1_3'UTR|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000361474.1_Missense_Mutation_p.P550T|NRG2_ENST00000545385.1_Missense_Mutation_p.P552T|NRG2_ENST00000358522.3_Missense_Mutation_p.P552T	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	550					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACATGCTGGGCTGTTGCAT	0.627000													7	25					0.00198382	0.00207576	0.001984	1	0
IGKV1-9	28941	broad.mit.edu	37	2	89309940	89309940	+	RNA	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:89309940G>T	ENST00000493819.1	-	0	72																											GCTGAGCGGGGACCCTCATGT	0.577000													33	94					1.6237e-14	2.17956e-14	0.013114	1	0
P4HA2	8974	broad.mit.edu	37	5	131533904	131533904	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:131533904T>A	ENST00000401867.1	-	13	1934	c.1366A>T	c.(1366-1368)Aac>Tac	p.N456Y	P4HA2_ENST00000379086.1_Intron|P4HA2_ENST00000379100.2_Intron|P4HA2_ENST00000379104.2_Missense_Mutation_p.N456Y|P4HA2_ENST00000166534.4_Missense_Mutation_p.N456Y|P4HA2_ENST00000360568.3_Intron			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	456	Fe2OG dioxygenase.					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)	CTCACGTAGTTTAAGAAAGTA	0.502000													31	11					0	0	0.005524	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224051	42224051	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:42224051C>T	ENST00000221992.6	+	7	1809	c.1695C>T	c.(1693-1695)gaC>gaT	p.D565D	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.D564D|CEACAM5_ENST00000405816.1_Silent_p.D565D	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	565	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAAGAAATGACGCAAGAGCCT	0.517000													99	125					0	0	0.014410	0	0
A4GNT	51146	broad.mit.edu	37	3	137850025	137850025	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:137850025A>T	ENST00000236709.3	-	2	275	c.74T>A	c.(73-75)cTg>cAg	p.L25Q		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	25					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GCTGGACTTCAGGGTGAACTG	0.567000													14	21					0	0	0.004007	0	0
SNAPC4	6621	broad.mit.edu	37	9	139282935	139282935	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:139282935G>T	ENST00000298532.2	-	10	1452	c.1084C>A	c.(1084-1086)Cag>Aag	p.Q362K		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	362	Myb-like 2.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGCATCTCCTGCACCAGCTGC	0.622000													14	46					9.31168e-06	1.02621e-05	0.001855	1	0
SCN8A	6334	broad.mit.edu	37	12	52164414	52164414	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:52164414A>G	ENST00000354534.5	+	19	3770	c.3592A>G	c.(3592-3594)Aac>Gac	p.N1198D	SCN8A_ENST00000545061.1_Missense_Mutation_p.N1198D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1198					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CGTGGAGCACAACTGGTTTGA	0.562000													7	44					0	0	0.001984	0	0
C17orf47	284083	broad.mit.edu	37	17	56620309	56620309	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:56620309C>T	ENST00000321691.3	-	1	1420	c.1239G>A	c.(1237-1239)ttG>ttA	p.L413L	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	413										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCGAGGAGGCAAGGGCCTAG	0.532000													21	80					0	0	0.014323	0	0
RARG	5916	broad.mit.edu	37	12	53621207	53621207	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:53621207C>G	ENST00000425354.2	-	3	610	c.123G>C	c.(121-123)atG>atC	p.M41I	RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.M41I	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	41	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGGGCTCAGCATCTCGAAAG	0.627000													62	29					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78400833	78400833	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:78400833G>A	ENST00000397909.2	+	8	1688	c.1515G>A	c.(1513-1515)ttG>ttA	p.L505L	NAV3_ENST00000228327.6_Silent_p.L505L|NAV3_ENST00000266692.7_Silent_p.L505L|NAV3_ENST00000536525.2_Silent_p.L505L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	505						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTGCAAGCTTGATCCCTAAGG	0.428000										HNSCC(70;0.22)			35	29					0	0	0.003755	0	0
OR5B17	219965	broad.mit.edu	37	11	58126398	58126398	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:58126398G>C	ENST00000357377.3	-	1	144	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGAGTCCAGCAGGATTAAT	0.463000													40	71					0	0	0.009718	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121264	38121264	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:38121264A>T	ENST00000406386.3	+	7	2956	c.2701A>T	c.(2701-2703)Aac>Tac	p.N901Y	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	901					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCATCGTACTAACAAAGACAT	0.547000													99	156					0	0	0.014410	0	0
WDR63	126820	broad.mit.edu	37	1	85561694	85561694	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:85561694C>G	ENST00000294664.6	+	11	1434	c.1254C>G	c.(1252-1254)atC>atG	p.I418M	WDR63_ENST00000326813.8_Missense_Mutation_p.I379M|WDR63_ENST00000370596.1_Missense_Mutation_p.I379M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	418										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GAGGCTGTATCAATGGGCAGG	0.393000													31	19					0	0	0.010818	0	0
ZNF17	7565	broad.mit.edu	37	19	57931542	57931542	+	Silent	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:57931542A>C	ENST00000307658.7	+	4	951	c.688A>C	c.(688-690)Agg>Cgg	p.R230R	ZNF17_ENST00000601808.1_Silent_p.R228R|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CAAATTGTTTAGGTACAACTC	0.413000													5	91					0	0	0.001984	0	0
NSMAF	8439	broad.mit.edu	37	8	59548030	59548030	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:59548030G>C	ENST00000038176.3	-	3	437	c.225C>G	c.(223-225)atC>atG	p.I75M	NSMAF_ENST00000427130.2_Missense_Mutation_p.I106M	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	75					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATTTACCTTGATGATGGGCT	0.308000													12	227					0	0	0.013537	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249862	3249862	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:3249862G>A	ENST00000389832.5	-	2	474	c.168C>T	c.(166-168)aaC>aaT	p.N56N	MRGPRE_ENST00000436689.2_Silent_p.N55N|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGAAGGGGTTTCTGTAGA	0.632000													41	65					0	0	0.010771	0	0
NDUFA5	4698	broad.mit.edu	37	7	123197486	123197486	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:123197486C>G	ENST00000471770.1	-	2	172	c.38G>C	c.(37-39)gGa>gCa	p.G13A	NDUFA5_ENST00000355749.2_Missense_Mutation_p.G13A|NDUFA5_ENST00000467117.1_5'UTR			Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5	13					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|urinary_tract(1)	2					NADH(DB00157)	CACAGCCAATCCCACAAGGCC	0.423000													5	54					0	0	0.000602	0	0
MMP12	4321	broad.mit.edu	37	11	102738033	102738033	+	RNA	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:102738033G>C	ENST00000532855.1	-	0	974							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TATTTCCCACGGTAGTGACAG	0.368000													7	3					0	0	0.001984	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847820	43847820	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43847820C>T	ENST00000389420.3	-	12	1649	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	ADAMTS20_ENST00000553158.1_Silent_p.T550T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	550	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACGTGTTTCCGTTTCTTTGT	0.398000													4	34					0	0	0.000602	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478516	141478516	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:141478516G>A	ENST00000247881.2	+	1	275	c.228G>A	c.(226-228)agG>agA	p.R76R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	76					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ATACGGAAAGGTCAGTCTACC	0.433000													65	116					0	0	0.014410	0	0
OR2L3	391192	broad.mit.edu	37	1	248224349	248224349	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248224349C>T	ENST00000359959.3	+	1	366	c.366C>T	c.(364-366)taC>taT	p.Y122Y	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGATCGTTACATTGCTATTT	0.448000													100	141					0	0	0.014410	0	0
SPTAN1	6709	broad.mit.edu	37	9	131331097	131331097	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:131331097A>T	ENST00000372739.3	+	3	394	c.284A>T	c.(283-285)aAc>aTc	p.N95I	SPTAN1_ENST00000372731.4_Missense_Mutation_p.N95I|SPTAN1_ENST00000358161.5_Missense_Mutation_p.N95I	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	95					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTGCAGGCCAACTCAGGAGCC	0.488000													54	9					0	0	0.014410	0	0
NUTM1	256646	broad.mit.edu	37	15	34640393	34640393	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:34640393C>T	ENST00000537011.1	+	3	706	c.324C>T	c.(322-324)ctC>ctT	p.L108L	NUTM1_ENST00000333756.4_Silent_p.L80L|NUTM1_ENST00000438749.3_Silent_p.L98L					NUT midline carcinoma, family member 1																		GCCCTTGCCTCAGTGGGGCTG	0.557000													29	121					0	0	0.006320	0	0
KMT2B	9757	broad.mit.edu	37	19	36212275	36212275	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:36212275G>A	ENST00000420124.1	+	3	2026	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000341701.1_Splice_Site|WBP7_ENST00000222270.7_Missense_Mutation_p.A676T																							GGCTCCTGAAGCCCCTGAGCC	0.642000													7	7					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82584629	82584629	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:82584629T>A	ENST00000423517.2	-	5	5977	c.5640A>T	c.(5638-5640)gtA>gtT	p.V1880V	PCLO_ENST00000333891.8_Silent_p.V1880V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1811					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACTTTTTGTACTTCTATTA	0.368000													22	34					0	0	0.014323	0	0
PRR12	57479	broad.mit.edu	37	19	50123642	50123642	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50123642G>T	ENST00000418929.2	+	10	5543	c.5531G>T	c.(5530-5532)aGg>aTg	p.R1844M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1023							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCAAAACCAGGGCGATGCGG	0.582000													3	16					0.004672	0.00481416	0.004672	1	0
DHX30	22907	broad.mit.edu	37	3	47890739	47890739	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:47890739C>T	ENST00000446256.2	+	20	3442	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L	DHX30_ENST00000457607.1_Missense_Mutation_p.S1024L|DHX30_ENST00000445061.1_Missense_Mutation_p.S996L|DHX30_ENST00000348968.4_Missense_Mutation_p.S968L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	996						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGGAAGCCCTCGGACTGCACC	0.597000													5	54					0	0	0.000602	0	0
OR2T10	127069	broad.mit.edu	37	1	248756557	248756557	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248756557G>A	ENST00000330500.2	-	1	543	c.513C>T	c.(511-513)tcC>tcT	p.S171S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	171					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)			GAATCTCATGGGATCTGCAGA	0.502000													49	94					0	0	0.014410	0	0
VEPH1	79674	broad.mit.edu	37	3	157099093	157099093	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:157099093G>T	ENST00000362010.2	-	7	1286	c.979C>A	c.(979-981)Ctc>Atc	p.L327I	VEPH1_ENST00000392832.2_Missense_Mutation_p.L327I|VEPH1_ENST00000392833.2_Missense_Mutation_p.L327I|VEPH1_ENST00000543418.1_Missense_Mutation_p.L327I	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	327						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCAGCAGGAGAATATGGTGA	0.498000													42	48					3.43241e-23	5.14517e-23	0.009718	1	0
COL8A1	1295	broad.mit.edu	37	3	99513341	99513341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:99513341C>A	ENST00000261037.3	+	5	976	c.596C>A	c.(595-597)cCa>cAa	p.P199Q	COL8A1_ENST00000273342.4_Missense_Mutation_p.P199Q	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	199	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CAAGGACCTCCAGGGCCTCAT	0.592000													23	27					2.27731e-05	2.46957e-05	0.012319	1	0
NLRP8	126205	broad.mit.edu	37	19	56487625	56487625	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:56487625G>T	ENST00000291971.3	+	8	2903	c.2832G>T	c.(2830-2832)ctG>ctT	p.L944L	NLRP8_ENST00000590542.1_Silent_p.L925L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	944						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGATCCTGCTGTGTGAGGCCC	0.463000													35	50					1.07121e-22	1.5993e-22	0.006999	1	0
OR2F1	26211	broad.mit.edu	37	7	143657597	143657597	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:143657597C>T	ENST00000392899.1	+	1	571	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATCACATATCCTGTGAACTCC	0.498000													36	56					0	0	0.003755	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220339	130220339	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:130220339G>T	ENST00000276211.5	+	10	1663	c.1318G>T	c.(1318-1320)Gtg>Ttg	p.V440L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V304L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V428L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	440					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTAAGCGCGTGTGGAAGTC	0.453000													27	27					2.08457e-15	2.83395e-15	0.010818	1	0
SLC28A1	9154	broad.mit.edu	37	15	85431063	85431063	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:85431063G>T	ENST00000394573.1	+	3	274	c.72G>T	c.(70-72)atG>atT	p.M24I	SLC28A1_ENST00000537216.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000538177.1_Missense_Mutation_p.M24I|SLC28A1_ENST00000338602.2_Missense_Mutation_p.M24I|SLC28A1_ENST00000537703.1_5'UTR|SLC28A1_ENST00000286749.3_Missense_Mutation_p.M24I|SLC28A1_ENST00000537624.1_Missense_Mutation_p.M24I	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	24					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGAGAACATGGGGGCTGATT	0.567000													31	50					1.82574e-34	2.88786e-34	0.013726	1	0
C5orf54	63920	broad.mit.edu	37	5	159821207	159821207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:159821207C>A	ENST00000408953.3	-	2	1798	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*	C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E431*	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	431										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						attatttcttcaagaaaagga	0.328000													38	20					1.414e-09	1.71848e-09	0.003755	1	0
JARID2	3720	broad.mit.edu	37	6	15468903	15468903	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:15468903G>T	ENST00000341776.2	+	5	868	c.624G>T	c.(622-624)tcG>tcT	p.S208S	JARID2_ENST00000541660.1_Silent_p.S170S|JARID2_ENST00000397311.3_Silent_p.S36S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	208					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CATGCCAGTCGACCCCCAGGA	0.468000													37	57					3.71624e-46	6.01869e-46	0.014410	1	0
RP1	6101	broad.mit.edu	37	8	55540739	55540739	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:55540739G>T	ENST00000220676.1	+	4	4445	c.4297G>T	c.(4297-4299)Gca>Tca	p.A1433S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1433					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGATGAAAATGCATATACTTC	0.363000													26	72					1.42536e-11	1.81831e-11	0.004656	1	0
MKRN3	7681	broad.mit.edu	37	15	23811593	23811593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:23811593G>T	ENST00000314520.3	+	1	1140	c.664G>T	c.(664-666)Gag>Tag	p.E222*	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	222						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATCTGCCCCCGAGGCTCCTCT	0.597000													10	24					0.000978159	0.00102928	0.010729	1	0
COL11A1	1301	broad.mit.edu	37	1	103462681	103462681	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:103462681C>T	ENST00000358392.2	-	26	2550		c.e26-1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGATGACCCTATATTTAGC	0.318000													100	51					0	0	0.014410	0	0
SCRN3	79634	broad.mit.edu	37	2	175287708	175287708	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:175287708T>A	ENST00000272732.6	+	6	932	c.850T>A	c.(850-852)Tct>Act	p.S284T	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.S277T	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	284					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAGCATGGTTTCTATTTTACC	0.408000													42	46					0	0	0.014410	0	0
TRMT61B	55006	broad.mit.edu	37	2	29074027	29074027	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:29074027T>C	ENST00000306108.5	-	5	1246	c.1223A>G	c.(1222-1224)aAa>aGa	p.K408R		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	408							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGATTCTACTTTTTGAGCTAA	0.378000													7	39					0	0	0.001984	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059741	79059741	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:79059741C>A	ENST00000388820.4	-	18	3049	c.2839G>T	c.(2839-2841)Gct>Tct	p.A947S	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	947	TSP type-1 4.				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						TTCCCCACAGCCCAGGTGGCC	0.652000													16	19					9.16793e-09	1.09107e-08	0.004990	1	0
CALB1	793	broad.mit.edu	37	8	91081386	91081386	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:91081386A>T	ENST00000265431.3	-	4	492	c.311T>A	c.(310-312)aTg>aAg	p.M104K	CALB1_ENST00000518457.1_Missense_Mutation_p.M47K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	104	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTATACCTTCATGAATTCCTC	0.378000													8	57					0	0	0.006214	0	0
OR4P4	81300	broad.mit.edu	37	11	55405873	55405873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55405873G>A	ENST00000314612.2	+	1	40	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATTCTCTTGGGGTTTTCCCA	0.313000													75	112					0	0	0.014410	0	0
IQSEC2	23096	broad.mit.edu	37	X	53276218	53276218	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53276218G>A	ENST00000396435.3	-	8	2882	c.2682C>T	c.(2680-2682)gaC>gaT	p.D894D	IQSEC2_ENST00000375368.5_Silent_p.D884D|IQSEC2_ENST00000375365.2_Silent_p.D689D	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	884	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GACTGTACATGTCGGTATTGA	0.517000													9	46					0	0	0.004482	0	0
CPT1C	126129	broad.mit.edu	37	19	50204810	50204810	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50204810C>A	ENST00000392518.4	+	7	984	c.612C>A	c.(610-612)gtC>gtA	p.V204V	CPT1C_ENST00000598293.1_Silent_p.V204V|CPT1C_ENST00000354199.5_Silent_p.V204V|CPT1C_ENST00000323446.5_Silent_p.V204V|CPT1C_ENST00000405931.2_Silent_p.V204V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	204					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGACCGCGGTCCTGGCGCAGG	0.672000													27	31					2.12542e-12	2.76341e-12	0.006320	1	0
USH2A	7399	broad.mit.edu	37	1	215955411	215955411	+	Silent	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:215955411C>G	ENST00000366943.2	-	54	11099	c.10713G>C	c.(10711-10713)acG>acC	p.T3571T	USH2A_ENST00000307340.3_Silent_p.T3571T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3571	Fibronectin type-III 20.		T -> M (in USH2A).		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)		AGCCAGCAACCGTGCAAGCTT	0.443000										HNSCC(13;0.011)			37	62					0	0	0.006230	0	0
GLI2	2736	broad.mit.edu	37	2	121555035	121555035	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:121555035G>A	ENST00000452319.1	+	2	199	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	GLI2_ENST00000361492.4_Missense_Mutation_p.A47T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	47					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)				AGCGGTAGCTGCCCAAGGAGG	0.572000													29	66					0	0	0.006320	0	0
FBXW10	10517	broad.mit.edu	37	17	18653137	18653137	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:18653137T>C	ENST00000308799.4	+	3	992	c.773T>C	c.(772-774)tTg>tCg	p.L258S	FBXW10_ENST00000395667.1_Missense_Mutation_p.L258S|FBXW10_ENST00000395665.4_Missense_Mutation_p.L258S|FBXW10_ENST00000301938.4_Missense_Mutation_p.L258S			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	258										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGCAATCTATTGGTTGACCTG	0.468000													50	162					0	0	0.014410	0	0
DDX56	54606	broad.mit.edu	37	7	44609415	44609415	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:44609415G>A	ENST00000258772.5	-	9	1318	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L364L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	404	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACCTCCACTGAGAAGCTCCT	0.507000													12	12					0	0	0.013537	0	0
ABCB1	5243	broad.mit.edu	37	7	87173503	87173503	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:87173503G>T	ENST00000265724.3	-	18	2570	c.2153C>A	c.(2152-2154)gCc>gAc	p.A718D	ABCB1_ENST00000543898.1_Missense_Mutation_p.A654D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	718	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTTATAATGGCACAAAATAC	0.358000													33	55					1.39649e-27	2.154e-27	0.012213	1	0
NR0B1	190	broad.mit.edu	37	X	30326619	30326619	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30326619G>T	ENST00000378970.4	-	1	1096	c.862C>A	c.(862-864)Cgc>Agc	p.R288S	NR0B1_ENST00000453287.1_Missense_Mutation_p.R288S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	288	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CAGCAGTTGCGCACCAGCACC	0.632000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					2.56e-06	2.87662e-06	0.009096	1	0
AMER1	139285	broad.mit.edu	37	X	63413127	63413127	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:63413127C>T	ENST00000330258.3	-	2	312	c.40G>A	c.(40-42)Gct>Act	p.A14T	AMER1_ENST00000374869.3_Missense_Mutation_p.A14T|AMER1_ENST00000403336.1_Missense_Mutation_p.A14T	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GAGGCTGCAGCTCCCTTGGCC	0.557000													20	88					0	0	0.014323	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821198	5821198	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:5821198G>T	ENST00000381095.3	-	5	2148	c.1521C>A	c.(1519-1521)ctC>ctA	p.L507L	NLGN4X_ENST00000538097.1_Silent_p.L507L|NLGN4X_ENST00000275857.6_Silent_p.L507L|NLGN4X_ENST00000381092.1_Silent_p.L507L|NLGN4X_ENST00000381093.2_Silent_p.L527L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	507					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						TACAACTGAAGAGCTCGGTGG	0.537000													17	53					3.45872e-05	3.74527e-05	0.004007	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50665439	50665439	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:50665439C>A	ENST00000439308.2	-	6	1972	c.1480G>T	c.(1480-1482)Gcg>Tcg	p.A494S	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A494S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	494					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGGAAACGCGGCCCTGGGG	0.687000													4	10					0.000602214	0.000636383	0.000602	1	0
ZNF649	65251	broad.mit.edu	37	19	52394076	52394076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52394076G>A	ENST00000354957.3	-	5	1597	c.1313C>T	c.(1312-1314)gCt>gTt	p.A438V	ZNF649_ENST00000600738.1_Missense_Mutation_p.A410V|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		ATAGAAGTAAGCTTTCTCACA	0.448000													99	195					0	0	0.014410	0	0
ZNF157	7712	broad.mit.edu	37	X	47272966	47272966	+	Silent	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:47272966T>G	ENST00000377073.3	+	4	1580	c.1494T>G	c.(1492-1494)cgT>cgG	p.R498R		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	498					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGTCCTGGCGTTGTACAATGA	0.502000													20	79					0	0	0.014323	0	0
GYS1	2997	broad.mit.edu	37	19	49488819	49488819	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:49488819C>A	ENST00000323798.3	-	5	918	c.722G>T	c.(721-723)cGa>cTa	p.R241L	GYS1_ENST00000541188.1_Missense_Mutation_p.R161L|GYS1_ENST00000540532.1_Missense_Mutation_p.R161L|GYS1_ENST00000263276.6_Missense_Mutation_p.R177L|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	241					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CATGCAGTATCGGTGGTAGAT	0.577000													26	56					4.87955e-14	6.51482e-14	0.005443	1	0
ALX1	8092	broad.mit.edu	37	12	85677506	85677506	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:85677506C>T	ENST00000316824.3	+	2	538	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	128					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S128C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AGCAATGTATCCAGCAGTAAG	0.478000													41	38					0	0	0.008740	0	0
MROH2B	133558	broad.mit.edu	37	5	41038946	41038946	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:41038946C>A	ENST00000399564.4	-	21	2556	c.2106G>T	c.(2104-2106)atG>atT	p.M702I	MROH2B_ENST00000506092.2_Missense_Mutation_p.M257I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CATAGATGACCATGACATCTG	0.453000													19	57					7.41877e-09	8.84318e-09	0.012319	1	0
NAV3	89795	broad.mit.edu	37	12	78553062	78553062	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:78553062A>C	ENST00000397909.2	+	23	5038	c.4865A>C	c.(4864-4866)cAa>cCa	p.Q1622P	NAV3_ENST00000228327.6_Missense_Mutation_p.Q1622P|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1445P|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1622P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1622						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGCGGAACAAAAGGTATGT	0.388000										HNSCC(70;0.22)			13	42					0	0	0.002450	0	0
RHCG	51458	broad.mit.edu	37	15	90019999	90019999	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:90019999G>T	ENST00000268122.4	-	9	1366	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	RHCG_ENST00000544600.1_Missense_Mutation_p.A433E	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	433					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CCAGTAGACCGCATCCTCAAA	0.562000													26	50					2.08973e-25	3.18374e-25	0.005443	1	0
ERVW-1	30816	broad.mit.edu	37	7	92099669	92099669	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:92099669G>A	ENST00000493463.2	-	1	950	c.27C>T	c.(25-27)ctC>ctT	p.L9L	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Silent_p.L9L|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		9					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gaacagtaaagagaaaaatat	0.458000													4	40					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126336137	126336137	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:126336137G>T	ENST00000394329.3	+	5	6032	c.6019G>T	c.(6019-6021)Gat>Tat	p.D2007Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D305Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2007	Cadherin 19.				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						AAAAGCTTTGGATCGGGAAAG	0.443000													75	48					2.15109e-50	3.5067e-50	0.014410	1	0
CEP104	9731	broad.mit.edu	37	1	3740094	3740094	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:3740094C>A	ENST00000378230.3	-	19	2721	c.2397G>T	c.(2395-2397)ttG>ttT	p.L799F		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	799						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATTCCGTCAGCAAGTGCTCCG	0.502000													35	30					1.30998e-17	1.81401e-17	0.005524	1	0
CA6	765	broad.mit.edu	37	1	9019024	9019024	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:9019024C>A	ENST00000377443.2	+	4	468	c.464C>A	c.(463-465)gCg>gAg	p.A155E	CA6_ENST00000377436.3_Missense_Mutation_p.A155E|CA6_ENST00000377442.2_Missense_Mutation_p.A95E|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	155					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCAAGATGCGCCGGATGGT	0.428000													103	52					4.60726e-43	7.42946e-43	0.014410	1	0
S100A11	6282	broad.mit.edu	37	1	152005294	152005294	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:152005294C>G	ENST00000271638.2	-	3	281	c.162G>C	c.(160-162)caG>caC	p.Q54H	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	54					negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CAGGGTCCTTCTGGTTCTGCA	0.403000													29	52					0	0	0.010818	0	0
LARP4B	23185	broad.mit.edu	37	10	875449	875449	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:875449T>A	ENST00000316157.3	-	10	1041	c.1001A>T	c.(1000-1002)cAg>cTg	p.Q334L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	334							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GTAGCGCTGCTGGGCATACAG	0.517000													38	19					0	0	0.005524	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628289	29628289	+	Silent	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:29628289A>T	ENST00000278882.3	+	6	671	c.291A>T	c.(289-291)atA>atT	p.I97I	FRG1B_ENST00000439954.2_Silent_p.I102I|FRG1B_ENST00000358464.4_Silent_p.I97I																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAGGGGACATAGAAGCAAAAA	0.378000													28	237					0	0	0.014410	0	0
OLIG3	167826	broad.mit.edu	37	6	137814953	137814953	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:137814953G>C	ENST00000367734.2	-	1	578	c.355C>G	c.(355-357)Cgc>Ggc	p.R119G		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	119	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGAGCTTGCGCACCGACGGC	0.602000													17	50					0	0	0.004990	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790844	133790844	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:133790844G>T	ENST00000321016.8	-	18	3006	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P926T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	926	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTATGCTGGTGGTGGCAGG	0.706000													32	21					2.80507e-11	3.55405e-11	0.012213	1	0
RGL2	5863	broad.mit.edu	37	6	33264212	33264212	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:33264212T>C	ENST00000497454.1	-	5	944	c.449A>G	c.(448-450)gAc>gGc	p.D150G	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.D68G|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	150	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCTAGTTCGTCGGTAGGATG	0.522000													33	18					0	0	0.005524	0	0
FOXP3	50943	broad.mit.edu	37	X	49108105	49108105	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49108105G>A	ENST00000557224.1	-	9	1060	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	FOXP3_ENST00000376207.4_Intron|FOXP3_ENST00000376197.1_Missense_Mutation_p.A339V|FOXP3_ENST00000455775.2_Intron|FOXP3_ENST00000518685.1_Intron|FOXP3_ENST00000376199.2_Intron			Q9BZS1	FOXP3_HUMAN	forkhead box P3	389					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CCCAGTCACCGCCACCTCAGA	0.572000													9	18					0	0	0.004482	0	0
CHDC2	286464	broad.mit.edu	37	X	36122647	36122647	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:36122647G>T	ENST00000378660.1	+	8	1072	c.884G>T	c.(883-885)tGc>tTc	p.C295F	CHDC2_ENST00000313548.4_Missense_Mutation_p.C295F					calponin homology domain containing 2																		GTGCCATACTGCAGCAATAAT	0.343000													23	92					6.07407e-21	8.83825e-21	0.007291	1	0
HFM1	164045	broad.mit.edu	37	1	91843694	91843694	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:91843694A>G	ENST00000370425.3	-	11	1381	c.1283T>C	c.(1282-1284)gTa>gCa	p.V428A	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.V107A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	428	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGCTAACTACAACTTCAAG	0.323000													19	16					0	0	0.008871	0	0
HK3	3101	broad.mit.edu	37	5	176318482	176318482	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:176318482C>G	ENST00000292432.5	-	3	257	c.166G>C	c.(166-168)Ggt>Cgt	p.G56R		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	56	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGAACCCAAGAGGCTG	0.627000													30	28					0	0	0.009535	0	0
GGN	199720	broad.mit.edu	37	19	38876144	38876144	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:38876144G>T	ENST00000334928.6	-	3	1890	c.1758C>A	c.(1756-1758)ttC>ttA	p.F586L	GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	586	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAAGCACCTGGAAGGGCAGCC	0.667000													15	27					8.60227e-14	1.14237e-13	0.004007	1	0
IQSEC3	440073	broad.mit.edu	37	12	266858	266858	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:266858G>A	ENST00000538872.1	+	7	2559	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R814Q|IQSEC3_ENST00000382841.2_Missense_Mutation_p.R511Q			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	814	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGAAACCTTCGAGGTGAGGAG	0.587000													5	57					0	0	0.000602	0	0
GTF2H3	2967	broad.mit.edu	37	12	124144433	124144433	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:124144433G>A	ENST00000543341.2	+	11	807	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	GTF2H3_ENST00000228955.7_Missense_Mutation_p.R218Q	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	259					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTCTGTCATCGAAATCTCATT	0.413000								Nucleotide excision repair (NER)					16	68					0	0	0.007413	0	0
RNF133	168433	broad.mit.edu	37	7	122338764	122338764	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:122338764C>A	ENST00000340112.2	-	1	446	c.209G>T	c.(208-210)aGa>aTa	p.R70I	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	70	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCTGCCACTCTCTTCAAAGT	0.433000													63	78					2.44918e-20	3.53613e-20	0.014410	1	0
GCC1	79571	broad.mit.edu	37	7	127224972	127224972	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:127224972T>A	ENST00000321407.2	-	1	689	c.265A>T	c.(265-267)Act>Tct	p.T89S	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	89						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCGCTGTGAGTGGAGCACCGG	0.597000													26	44					0	0	0.003954	0	0
ZNF528	84436	broad.mit.edu	37	19	52919907	52919907	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52919907G>T	ENST00000360465.3	+	7	2228	c.1802G>T	c.(1801-1803)gGa>gTa	p.G601V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G601A(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCACATTGGAGAGAAACCT	0.418000													34	62					9.80977e-26	1.4976e-25	0.004289	1	0
NLRP12	91662	broad.mit.edu	37	19	54297343	54297343	+	Missense_Mutation	SNP	G	G	T	rs146786265	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54297343G>T	ENST00000324134.6	-	10	3314	c.3146C>A	c.(3145-3147)gCg>gAg	p.A1049E	NLRP12_ENST00000351894.4_Missense_Mutation_p.A937E|NLRP12_ENST00000345770.5_Missense_Mutation_p.A994E|NLRP12_ENST00000391773.1_Missense_Mutation_p.A1050E|NLRP12_ENST00000391772.1_Missense_Mutation_p.A880E|NLRP12_ENST00000535162.1_Missense_Mutation_p.A992E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A992E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A880E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TACTCGAAGCGCTGCCAACCT	0.463000													21	54					5.35356e-11	6.7258e-11	0.002780	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140811002	140811002	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140811002G>A	ENST00000252085.3	+	1	818	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCACCGCGCGCATCCG	0.657000													33	12					0	0	0.013726	0	0
SSFA2	6744	broad.mit.edu	37	2	182779977	182779977	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:182779977C>T	ENST00000431877.2	+	11	1789	c.1610C>T	c.(1609-1611)gCt>gTt	p.A537V	SSFA2_ENST00000320370.7_Missense_Mutation_p.A537V|SSFA2_ENST00000409001.1_Missense_Mutation_p.A537V|SSFA2_ENST00000428267.2_Missense_Mutation_p.A384V|SSFA2_ENST00000409136.1_Missense_Mutation_p.A46V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	537						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGAGTAGTGCTGATAGTTGT	0.423000													66	82					0	0	0.014410	0	0
DCC	1630	broad.mit.edu	37	18	50866223	50866223	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:50866223G>A	ENST00000442544.2	+	15	2921	c.2305G>A	c.(2305-2307)Gct>Act	p.A769T	DCC_ENST00000412726.1_Missense_Mutation_p.A617T|DCC_ENST00000581580.1_Missense_Mutation_p.A424T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	769	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGCCCTTACGCTGAGACAGT	0.448000													10	31					0	0	0.006214	0	0
SCN3A	6328	broad.mit.edu	37	2	165956828	165956828	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:165956828C>A	ENST00000360093.3	-	22	4441	c.3950G>T	c.(3949-3951)cGg>cTg	p.R1317L	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1317L|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1268L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1317						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCCTTCAAACCGGGATAAGGC	0.403000													39	56					6.33695e-27	9.75419e-27	0.007835	1	0
SCN11A	11280	broad.mit.edu	37	3	38951680	38951680	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:38951680A>T	ENST00000450244.1	-	8	1176	c.978T>A	c.(976-978)taT>taA	p.Y326*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.Y326*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.Y326*|SCN11A_ENST00000302328.3_Nonsense_Mutation_p.Y326*			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	326					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCTTACATTCATATTGTATGG	0.383000													44	17					0	0	0.010771	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743947	20743947	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:20743947A>G	ENST00000427390.2	-	3	435	c.345T>C	c.(343-345)caT>caC	p.H115H		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	115										NS(3)|endometrium(4)|kidney(1)|skin(3)	11						CCTGATGTTGATGGCTTGCCT	0.512000													2	7					0	0	0.004672	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609214	84609214	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:84609214T>A	ENST00000344803.2	+	4	3876	c.3829T>A	c.(3829-3831)Tgt>Agt	p.C1277S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GGTCCCTACCTGTGTCTTACA	0.552000													38	46					0	0	0.004289	0	0
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:38899416G>T	ENST00000252530.5	+	8	963	c.944G>T	c.(943-945)cGg>cTg	p.R315L	FAM98C_ENST00000343358.7_Missense_Mutation_p.R233L|FAM98C_ENST00000588262.1_Silent_p.P181P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562000													24	69					9.86323e-18	1.36836e-17	0.003954	1	0
SMYD5	10322	broad.mit.edu	37	2	73446061	73446061	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:73446061G>T	ENST00000389501.4	+	2	214	c.169G>T	c.(169-171)Gca>Tca	p.A57S	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	57							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCTGGTGGCTGCACAGTTTCT	0.557000													17	44					2.37509e-13	3.13731e-13	0.010504	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926460	130926460	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:130926460C>A	ENST00000261655.4	-	8	1549	c.1386G>T	c.(1384-1386)ccG>ccT	p.P462P	RIMBP2_ENST00000535703.1_Silent_p.P370P|RIMBP2_ENST00000536002.1_Silent_p.P370P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	462	Fibronectin type-III 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAGCTGCCACGGCATCTGGT	0.587000													22	32					2.39556e-15	3.25081e-15	0.002780	1	0
VNN2	8875	broad.mit.edu	37	6	133073775	133073775	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:133073775A>G	ENST00000326499.6	-	4	775	c.651T>C	c.(649-651)taT>taC	p.Y217Y	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.Y164Y	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	217	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CACCAGGATCATAGAAGAATA	0.443000													42	95					0	0	0.006999	0	0
GPKOW	27238	broad.mit.edu	37	X	48979050	48979050	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48979050G>T	ENST00000156109.5	-	2	331	c.253C>A	c.(253-255)Cgg>Agg	p.R85R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	85						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGGGGGCCGGGCTGGTGGC	0.627000													12	23					1.08611e-07	1.24676e-07	0.010729	1	0
DDB1	1642	broad.mit.edu	37	11	61094321	61094321	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:61094321T>A	ENST00000301764.7	-	5	991	c.594A>T	c.(592-594)cgA>cgT	p.R198R	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	198	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTCCTTTTCTCGGAGAGACA	0.522000								Nucleotide excision repair (NER)					97	158					0	0	0.014410	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075791	145075791	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:145075791G>T	ENST00000369359.4	-	1	110	c.72C>A	c.(70-72)cgC>cgA	p.R24R	PDE4DIP_ENST00000369345.4_Silent_p.R24R|PDE4DIP_ENST00000530740.1_Silent_p.R24R|PDE4DIP_ENST00000369348.3_Silent_p.R24R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTGAGCCCGGCGGGACGCGC	0.716000			T	PDGFRB	MPD								17	85					1.36565e-18	1.92326e-18	0.002780	1	0
CHRDL2	25884	broad.mit.edu	37	11	74408263	74408263	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74408263A>G	ENST00000263671.5	-	11	1541	c.1255T>C	c.(1255-1257)Tgg>Cgg	p.W419R	CHRDL2_ENST00000376332.3_Silent_p.A400A	NM_015424.3	NP_056239.3	Q6WN34	CRDL2_HUMAN	chordin-like 2	0					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CGTGGGGGCCAGCGAGCAGTC	0.587000													40	68					0	0	0.006999	0	0
FRMD1	79981	broad.mit.edu	37	6	168457935	168457935	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:168457935G>T	ENST00000283309.6	-	11	1556	c.1492C>A	c.(1492-1494)Cca>Aca	p.P498T	FRMD1_ENST00000440994.2_Missense_Mutation_p.P430T|FRMD1_ENST00000537786.1_Missense_Mutation_p.P269T|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	498						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GTGGGCGCTGGGTGCAGGGCC	0.672000													8	3					5.18039e-06	5.73461e-06	0.003080	1	0
ZNF592	9640	broad.mit.edu	37	15	85326320	85326320	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:85326320C>T	ENST00000299927.3	+	1	436	c.414C>T	c.(412-414)ttC>ttT	p.F138F	ZNF592_ENST00000560079.2_Silent_p.F138F			Q92610	ZN592_HUMAN	zinc finger protein 592	138					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCCACCTTCAACCAGTTCA	0.478000													42	139					0	0	0.010771	0	0
TTN	7273	broad.mit.edu	37	2	179598401	179598401	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179598401T>C	ENST00000589042.1	-	53	15939	c.15715A>G	c.(15715-15717)Acg>Gcg	p.T5239A	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T3995A|TTN_ENST00000591111.1_Missense_Mutation_p.T4922A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4922	Ig-like 33.						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)			GCCAGGCACGTGTATTTGCCT	0.383000													48	119					0	0	0.014410	0	0
EPG5	57724	broad.mit.edu	37	18	43492360	43492360	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:43492360C>A	ENST00000282041.5	-	22	3912	c.3878G>T	c.(3877-3879)cGc>cTc	p.R1293L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1293					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTGGGCCCAGCGATAAATCAG	0.537000													6	75					1.06961e-07	1.23736e-07	0.003080	1	0
ISL2	64843	broad.mit.edu	37	15	76630854	76630854	+	Splice_Site	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:76630854C>A	ENST00000290759.4	+	3	670	c.511_splice	c.e3+1	p.P170_splice		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TGCATCTGCCCGGTAAGCGCG	0.726000													18	22					3.52763e-06	3.92838e-06	0.004990	1	0
PXDN	7837	broad.mit.edu	37	2	1652817	1652817	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1652817G>A	ENST00000252804.4	-	17	2785	c.2735C>T	c.(2734-2736)gCa>gTa	p.A912V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	912					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACGTTGGATGCGTCTATGTA	0.672000													18	22					0	0	0.014323	0	0
OR4S1	256148	broad.mit.edu	37	11	48327915	48327915	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:48327915C>A	ENST00000319988.1	+	1	141	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TCATCACCATCAATGCTAGAA	0.448000													69	88					6.12789e-21	8.89918e-21	0.014410	1	0
MYO15A	51168	broad.mit.edu	37	17	18030103	18030103	+	Splice_Site	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:18030103A>G	ENST00000205890.5	+	6	4204		c.e6-1			NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA						sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGTCTCCCCAGGCACCTCTT	0.552000													52	97					0	0	0.014410	0	0
ZNF479	90827	broad.mit.edu	37	7	57194381	57194381	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:57194381C>T	ENST00000331162.4	-	3	354	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTGCCATTCCTCCAGAGAGA	0.438000													30	46					0	0	0.012213	0	0
SPTA1	6708	broad.mit.edu	37	1	158582607	158582607	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158582607C>T	ENST00000368148.3	-	51	7314	c.7134_splice	c.e51+1	p.Q2378_splice	SPTA1_ENST00000368147.3_Splice_Site_p.Q2375_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2378	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q2378H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAATCGGACCTGCTTCATGT	0.458000													26	51					0	0	0.006320	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423729	25423729	+	RNA	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:25423729C>A	ENST00000441592.2	+	0	300																											TGCTTTGGGACCGCTGGCCCC	0.617000													7	21					0.00198382	0.00207576	0.001984	1	0
TINAG	27283	broad.mit.edu	37	6	54214671	54214671	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:54214671C>A	ENST00000259782.4	+	7	1153	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	353					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TCAATGTTCTCCTCCATACAG	0.408000													11	51					7.93312e-07	8.9684e-07	0.002450	1	0
ABI3BP	25890	broad.mit.edu	37	3	100621495	100621495	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:100621495C>A	ENST00000471714.1	-	3	425	c.316G>T	c.(316-318)Gct>Tct	p.A106S	ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.A106S|ABI3BP_ENST00000495063.1_Missense_Mutation_p.A106S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	106						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAGGTGGAGCAGGTCGCACA	0.398000													17	27					2.70639e-06	3.03654e-06	0.014323	1	0
RASSF3	283349	broad.mit.edu	37	12	65088583	65088583	+	Missense_Mutation	SNP	G	G	T	rs147804503		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:65088583G>T	ENST00000542104.1	+	5	728	c.608G>T	c.(607-609)cGc>cTc	p.R203L	RASSF3_ENST00000336061.2_Missense_Mutation_p.R203L	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	203	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AATTTCTTGCGCATCTTGGAC	0.473000													39	56					2.26627e-22	3.37001e-22	0.007835	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140789266	140789266	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140789266G>T	ENST00000520790.1	+	1	1497	c.1497G>T	c.(1495-1497)ctG>ctT	p.L499L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.L499L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGCCCCTGGCGGTGTCGT	0.642000													15	7					2.35188e-11	2.98493e-11	0.006122	1	0
FRG1	2483	broad.mit.edu	37	4	190878615	190878615	+	Silent	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:190878615A>T	ENST00000226798.4	+	6	717	c.495A>T	c.(493-495)atA>atT	p.I165I	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	165					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CAGGGGACATAGAAGCAAAAA	0.378000													22	113					0	0	0.014410	0	0
LAMB4	22798	broad.mit.edu	37	7	107704266	107704266	+	Missense_Mutation	SNP	C	C	T	rs142967094		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:107704266C>T	ENST00000388781.3	-	22	3084	c.3001G>A	c.(3001-3003)Gca>Aca	p.A1001T	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1001T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1001T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1001	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGCAGTTTGCGCCCTGAGTG	0.527000													51	107					0	0	0.014410	0	0
USP2	9099	broad.mit.edu	37	11	119229766	119229766	+	Silent	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:119229766A>T	ENST00000260187.2	-	6	1434	c.1140T>A	c.(1138-1140)ccT>ccA	p.P380P	USP2_ENST00000525735.1_Silent_p.P171P|USP2_ENST00000455332.2_Silent_p.P137P	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	380					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGTTGGACTTAGGTCTCAGTG	0.483000													39	15					0	0	0.010771	0	0
MAP1B	4131	broad.mit.edu	37	5	71492252	71492252	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:71492252G>A	ENST00000296755.7	+	5	3368	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1024						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGATGAGGAGGACAAAGCTGA	0.532000													37	11					0	0	0.004878	0	0
MMP16	4325	broad.mit.edu	37	8	89128829	89128829	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:89128829G>A	ENST00000286614.6	-	6	1271	c.990C>T	c.(988-990)acC>acT	p.T330T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	330					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AGGGTCTGCCGGTTGGAGGCC	0.532000													78	56					0	0	0.014410	0	0
CDC37	11140	broad.mit.edu	37	19	10505718	10505718	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:10505718C>A	ENST00000222005.2	-	5	758	c.705G>T	c.(703-705)cgG>cgT	p.R235R		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	235					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TGAAGAACTGCCGGAAGCAGG	0.587000													78	22					4.97629e-18	6.9296e-18	0.014410	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712446	140712446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140712446T>A	ENST00000517417.1	+	1	2195	c.2195T>A	c.(2194-2196)tTa>tAa	p.L732*	PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.L732*	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGCGGCTTAGCGAGCATG	0.652000													50	35					0	0	0.014410	0	0
PRSS8	5652	broad.mit.edu	37	16	31143906	31143906	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:31143906C>T	ENST00000317508.6	-	5	812	c.549G>A	c.(547-549)ctG>ctA	p.L183L	PRSS8_ENST00000568261.1_Silent_p.L129L	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	183	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GCTTGGGCGTCAGGAGGCTCA	0.612000													37	40					0	0	0.006230	0	0
WDPCP	51057	broad.mit.edu	37	2	63380060	63380060	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:63380060C>A	ENST00000409120.1	-	11	5153	c.1603G>T	c.(1603-1605)Ggc>Tgc	p.G535C	WDPCP_ENST00000272321.7_Missense_Mutation_p.G727C|WDPCP_ENST00000409199.1_Missense_Mutation_p.G535C|WDPCP_ENST00000398544.3_Missense_Mutation_p.G568C			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	727					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGTTCTCTGCCGTCTTCTCTC	0.274000													10	29					1.05317e-09	1.28414e-09	0.002450	1	0
GFRA1	2674	broad.mit.edu	37	10	117885028	117885028	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:117885028C>T	ENST00000439649.3	-	5	826	c.459G>A	c.(457-459)gcG>gcA	p.A153A	GFRA1_ENST00000544592.1_Silent_p.A37A|GFRA1_ENST00000369236.1_Silent_p.A153A|GFRA1_ENST00000355422.6_Silent_p.A158A	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	158					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCAGGCCTTCGCTGCATCCA	0.557000													4	14					0	0	0.009096	0	0
C6orf203	51250	broad.mit.edu	37	6	107361208	107361208	+	Missense_Mutation	SNP	G	G	A	rs150832095	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:107361208G>A	ENST00000443043.1	+	3	934	c.259G>A	c.(259-261)Gta>Ata	p.V87I	C6orf203_ENST00000405204.2_Missense_Mutation_p.V82I|C6orf203_ENST00000311381.5_Missense_Mutation_p.V82I|C6orf203_ENST00000489790.1_3'UTR	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	82										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TCCTTTTTCCGTAAGACTCAA	0.333000													25	55					0	0	0.005443	0	0
NOL11	25926	broad.mit.edu	37	17	65722658	65722658	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:65722658G>A	ENST00000253247.4	+	7	862	c.747G>A	c.(745-747)ctG>ctA	p.L249L	NOL11_ENST00000535137.1_Silent_p.L67L	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	249						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTAAATCACTGCTGCTCAAGG	0.458000													33	42					0	0	0.013726	0	0
LILRA1	11024	broad.mit.edu	37	19	55106360	55106360	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55106360G>T	ENST00000453777.1	+	4	471	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.G101C|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	101	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTTTCTACGGTAGCCACAC	0.607000													42	63					4.01765e-15	5.43222e-15	0.009718	1	0
KCNH1	3756	broad.mit.edu	37	1	211093374	211093374	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:211093374C>A	ENST00000367007.4	-	7	1158	c.989G>T	c.(988-990)cGg>cTg	p.R330L	KCNH1_ENST00000271751.4_Missense_Mutation_p.R357L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	357					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGGAGCAGCCGGACAACTTT	0.567000													29	62					6.38683e-12	8.26075e-12	0.008361	1	0
OPCML	4978	broad.mit.edu	37	11	132306621	132306621	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:132306621C>T	ENST00000331898.7	-	5	1295	c.717G>A	c.(715-717)aaG>aaA	p.K239K	OPCML_ENST00000541867.1_Silent_p.K239K|OPCML_ENST00000524381.1_Silent_p.K232K|OPCML_ENST00000374778.4_Silent_p.K198K|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	239	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCAGGATGCCCTTCTGACCGA	0.502000													21	21					0	0	0.012319	0	0
GPKOW	27238	broad.mit.edu	37	X	48979051	48979051	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48979051G>T	ENST00000156109.5	-	2	330	c.252C>A	c.(250-252)gcC>gcA	p.A84A		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	84						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CAGGGGGCCGGGCTGGTGGCT	0.632000													12	23					1.08611e-07	1.24676e-07	0.010729	1	0
DZIP1L	199221	broad.mit.edu	37	3	137822454	137822454	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:137822454G>A	ENST00000327532.2	-	2	722	c.360C>T	c.(358-360)ggC>ggT	p.G120G	DZIP1L_ENST00000469243.1_Silent_p.G120G	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	120						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTGCTGCTGGCCCAGGCTGG	0.662000													10	14					0	0	0.008291	0	0
SNHG14	104472715	broad.mit.edu	37	15	25322271	25322271	+	RNA	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:25322271C>A	ENST00000549804.2	+	0	1243				SNORD116-12_ENST00000384468.1_RNA																							ATACCATCATCCTCATTGAAC	0.428000													24	76					1.66031e-10	2.06155e-10	0.003954	1	0
P4HA3	283208	broad.mit.edu	37	11	74013546	74013546	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74013546G>T	ENST00000331597.4	-	3	480	c.435C>A	c.(433-435)gaC>gaA	p.D145E	P4HA3_ENST00000427714.2_Missense_Mutation_p.D145E	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	145						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GCATGTACACGTCCTGCAGCC	0.552000													56	109					5.82218e-30	9.05537e-30	0.014410	1	0
USP32	84669	broad.mit.edu	37	17	58258936	58258936	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:58258936T>A	ENST00000300896.4	-	32	4491	c.4297A>T	c.(4297-4299)Aat>Tat	p.N1433Y	USP32_ENST00000592339.1_Missense_Mutation_p.N1103Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1433					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCAGCCCCATTTTCTTTGCTG	0.552000													17	55					0	0	0.004007	0	0
TPTE	7179	broad.mit.edu	37	21	10959762	10959762	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:10959762G>T	ENST00000298232.7	-	7	525	c.158C>A	c.(157-159)gCt>gAt	p.A53D	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A71D	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	71					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACATTTTCAGCATCTTCAAC	0.363000													9	192					2.74318e-10	3.38917e-10	0.006214	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89246879	89246879	+	RNA	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:89246879G>T	ENST00000496168.1	-	0	471																											GCAGGCTGCTGATGGTGAGAG	0.478000													56	132					2.40265e-35	3.80845e-35	0.014410	1	0
PITPNC1	26207	broad.mit.edu	37	17	65628289	65628289	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:65628289A>T	ENST00000580974.1	+	6	1093	c.397A>T	c.(397-399)Aga>Tga	p.R133*	PITPNC1_ENST00000581322.1_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000299954.9_Nonsense_Mutation_p.R133*|PITPNC1_ENST00000335257.6_Nonsense_Mutation_p.R133*	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	133					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGACGTGGAGAGAGAAGTTTG	0.433000													22	32					0	0	0.005443	0	0
CDH7	1005	broad.mit.edu	37	18	63547683	63547683	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:63547683C>A	ENST00000397968.2	+	12	2337	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P	CDH7_ENST00000323011.3_Silent_p.P637P	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	637					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAAAAGAGCCCCTTATTTTTG	0.458000													10	18					0.000442599	0.000469042	0.006214	1	0
CCL1	6346	broad.mit.edu	37	17	32690143	32690143	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:32690143A>T	ENST00000225842.3	-	1	107	c.38T>A	c.(37-39)cTa>cAa	p.L13Q		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	13					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CATCCCAGCTAGCAGCAAGCA	0.562000													20	30					0	0	0.003954	0	0
ATRX	546	broad.mit.edu	37	X	76939151	76939151	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:76939151C>G	ENST00000373344.5	-	9	1811	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	ATRX_ENST00000395603.3_Missense_Mutation_p.E495Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	533					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)	ATAGCAGTCTCAAGATTCTCA	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						159	124					0	0	0.014410	0	0
COL22A1	169044	broad.mit.edu	37	8	139603718	139603718	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:139603718C>T	ENST00000303045.6	-	64	5088	c.4642G>A	c.(4642-4644)Ggt>Agt	p.G1548S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1528S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1548	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGTGCACCTGGGTCACCT	0.602000										HNSCC(7;0.00092)			3	19					0	0	0.004672	0	0
RIC3	79608	broad.mit.edu	37	11	8132424	8132424	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:8132424C>T	ENST00000396677.2	-	3	444	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000309737.6_Missense_Mutation_p.E311K|RIC3_ENST00000539720.1_Missense_Mutation_p.E262K|RIC3_ENST00000425599.2_Missense_Mutation_p.E230K|RIC3_ENST00000335425.7_Missense_Mutation_p.E129K|RIC3_ENST00000343202.4_Missense_Mutation_p.E310K			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	311						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCAGGATCCTCGTCTTCATGA	0.483000													80	94					0	0	0.014410	0	0
G6PC	2538	broad.mit.edu	37	17	41052904	41052904	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:41052904G>A	ENST00000253801.2	+	1	90	c.11G>A	c.(10-12)gGa>gAa	p.G4E	G6PC_ENST00000592383.1_Missense_Mutation_p.G4E|G6PC_ENST00000585489.1_Missense_Mutation_p.G4E	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	4					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATGGAGGAAGGAATGAATGTT	0.498000													10	46					0	0	0.008291	0	0
EP400	57634	broad.mit.edu	37	12	132510276	132510276	+	Silent	SNP	G	G	T	rs79827647	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:132510276G>T	ENST00000333577.4	+	26	5158	c.5049G>T	c.(5047-5049)gcG>gcT	p.A1683A	EP400_ENST00000389561.2_Silent_p.A1647A|EP400_ENST00000332482.4_Silent_p.A1610A|EP400_ENST00000330386.6_Silent_p.A1566A|EP400_ENST00000389562.2_Silent_p.A1646A			Q96L91	EP400_HUMAN	E1A binding protein p400	1683					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGTCTCAGGCGGGCGCTGTGC	0.692000													5	24					1.23904e-05	1.35948e-05	0.000602	1	0
ROS1	6098	broad.mit.edu	37	6	117665282	117665282	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:117665282C>A	ENST00000368508.3	-	27	4663	c.4465G>T	c.(4465-4467)Gtt>Ttt	p.V1489F	ROS1_ENST00000368507.3_Missense_Mutation_p.V1483F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1489	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATAATAAACCAGGTATGTT	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	32					5.35267e-07	6.07887e-07	0.007413	1	0
MUC4	4585	broad.mit.edu	37	3	195479980	195479980	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:195479980G>A	ENST00000463781.3	-	20	15909	c.15450C>T	c.(15448-15450)gcC>gcT	p.A5150A	MUC4_ENST00000346145.4_Silent_p.A914A|MUC4_ENST00000349607.4_Silent_p.A863A|MUC4_ENST00000475231.1_Silent_p.A5098A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1907					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)		TGTCAGTGAAGGCTGGGGGGC	0.592000													77	191					0	0	0.014410	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691333	39691333	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:39691333G>C	ENST00000339852.4	+	6	787	c.765G>C	c.(763-765)gaG>gaC	p.E255D		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	255	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACCGCATGGAGCCTGGTGGGC	0.632000													121	196					0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57325220	57325220	+	Missense_Mutation	SNP	C	C	G	rs140891968		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:57325220C>G	ENST00000326441.9	-	10	4953	c.4590G>C	c.(4588-4590)atG>atC	p.M1530I	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1530I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1406I|PEG3_ENST00000593695.1_Missense_Mutation_p.M1404I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1530					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAATATGATCATGCTGGCAT	0.478000													44	69					0	0	0.009718	0	0
FAM9B	171483	broad.mit.edu	37	X	8997416	8997416	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:8997416G>A	ENST00000362066.3	-	5	633	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F	FAM9B_ENST00000428477.1_Missense_Mutation_p.L109F|FAM9B_ENST00000327220.5_Missense_Mutation_p.L109F			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	109						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TATTCTTCAAGGACATTTAGC	0.363000													4	25					0	0	0.009096	0	0
AHNAK	79026	broad.mit.edu	37	11	62296993	62296993	+	Silent	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:62296993T>C	ENST00000378024.4	-	5	5170	c.4896A>G	c.(4894-4896)ccA>ccG	p.P1632P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1632					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTCCCTTCTGGACCTTCAA	0.473000													99	142					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179610817	179610817	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179610817G>T	ENST00000360870.5	-	46	16532	c.16310C>A	c.(16309-16311)aCt>aAt	p.T5437N	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8944	Ig-like 35.						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)			AATTTTAAGAGTGTGACTTCC	0.418000													96	101					5.71645e-57	9.3599e-57	0.014410	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260834	30260834	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30260834C>A	ENST00000378982.2	+	1	778	c.582C>A	c.(580-582)acC>acA	p.T194T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	194	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTGCCTGGACCCTTCCAAGGA	0.522000													16	17					0.00316338	0.00328234	0.003163	1	0
OR10K1	391109	broad.mit.edu	37	1	158435444	158435444	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158435444C>T	ENST00000289451.2	+	1	173	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTGTTATCTTCCTGCTCCTCT	0.517000													40	65					0	0	0.006999	0	0
DMD	1756	broad.mit.edu	37	X	33146266	33146266	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:33146266G>A	ENST00000378677.2	-	1	211	c.17C>T	c.(16-18)tCt>tTt	p.S6F	DMD_ENST00000357033.4_Intron|DMD_ENST00000288447.4_Intron	NM_004009.3|NM_004010.3|NM_004011.3|NM_004012.3|NM_004014.2	NP_004000.1|NP_004001.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	0	Actin-binding.				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)				TTACTCACCAGATGAGACCTC	0.418000													4	17					0	0	0.000602	0	0
ZNF568	374900	broad.mit.edu	37	19	37440567	37440567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:37440567C>A	ENST00000415168.1	+	5	696	c.320C>A	c.(319-321)tCa>tAa	p.S107*	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.S171*	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	171	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTGTTACTTCAAGACAAAGC	0.338000													8	93					0.000157383	0.000168463	0.003080	1	0
COL11A1	1301	broad.mit.edu	37	1	103487279	103487279	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:103487279G>T	ENST00000358392.2	-	9	1645	c.1328C>A	c.(1327-1329)cCa>cAa	p.P443Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.P315Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P392Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P431Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	431	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACCACTGCTGGTTCTCCTTT	0.363000													29	20					1.99505e-19	2.85281e-19	0.012213	1	0
TEX2	55852	broad.mit.edu	37	17	62291328	62291328	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:62291328C>A	ENST00000258991.3	-	2	334	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	TEX2_ENST00000584379.1_Missense_Mutation_p.D84Y|TEX2_ENST00000583097.1_Missense_Mutation_p.D84Y			Q8IWB9	TEX2_HUMAN	testis expressed 2	84					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCGGCGGGGTCATGGCCAACT	0.577000													97	160					1.26289e-39	2.02334e-39	0.014410	1	0
ACE	1636	broad.mit.edu	37	17	61557822	61557822	+	Silent	SNP	C	C	T	rs4302	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:61557822C>T	ENST00000290866.4	+	5	804	c.780C>T	c.(778-780)cgC>cgT	p.R260R	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.R260R|ACE_ENST00000428043.1_Silent_p.R260R	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	260	Peptidase M2 1.		R -> C (in dbSNP:rs4302).|R -> L (in dbSNP:rs4303).		arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCGTCCGCCGCGCACTGCATC	0.607000													31	65					0	0	0.008361	0	0
XKR6	286046	broad.mit.edu	37	8	10782284	10782284	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:10782284C>T	ENST00000416569.2	-	2	847	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	XKR6_ENST00000304437.2_5'UTR	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	274						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GTAGAAGCGTCGCTGGTGTTC	0.582000													7	117					0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	3226842	3226842	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:3226842C>A	ENST00000520002.1	-	20	3391	c.2836G>T	c.(2836-2838)Ggg>Tgg	p.G946W	CSMD1_ENST00000400186.3_Missense_Mutation_p.G946W|CSMD1_ENST00000539096.1_Missense_Mutation_p.G945W|CSMD1_ENST00000602723.1_Missense_Mutation_p.G946W|CSMD1_ENST00000537824.1_Missense_Mutation_p.G945W|CSMD1_ENST00000602557.1_Missense_Mutation_p.G946W|CSMD1_ENST00000542608.1_Missense_Mutation_p.G945W			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	946	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGGAAACCCAGGAGAAAGG	0.393000													17	14					6.94344e-10	8.49403e-10	0.006122	1	0
LIN28B	389421	broad.mit.edu	37	6	105406156	105406156	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:105406156C>G	ENST00000345080.4	+	2	396	c.193C>G	c.(193-195)Cac>Gac	p.H65D		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	65	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TGTATTTGTACACCAAGTAAG	0.453000													36	56					0	0	0.004878	0	0
MYH3	4621	broad.mit.edu	37	17	10554888	10554888	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10554888T>A	ENST00000583535.1	-	5	533	c.446A>T	c.(445-447)cAg>cTg	p.Q149L	MYH3_ENST00000226209.7_Missense_Mutation_p.Q149L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	149	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGGGCCTCCTGGCGCTTTTT	0.577000													86	180					0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10366498	10366498	+	Silent	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10366498T>C	ENST00000255381.2	-	10	923	c.813A>G	c.(811-813)ctA>ctG	p.L271L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	271	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	p.L271L(1)		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						GGGACTTCTCTAGCAGATCTG	0.353000													26	43					0	0	0.005443	0	0
FRMD1	79981	broad.mit.edu	37	6	168464370	168464370	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:168464370C>A	ENST00000283309.6	-	6	779	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	FRMD1_ENST00000440994.2_Missense_Mutation_p.G171C|FRMD1_ENST00000537786.1_Missense_Mutation_p.G10C|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	239	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGCTCAGGCCCTGGCGCTCA	0.642000													15	31					1.02788e-11	1.31576e-11	0.004990	1	0
MYH4	4622	broad.mit.edu	37	17	10364260	10364260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10364260C>A	ENST00000255381.2	-	12	1230	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	374	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(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						TCTGCCTGCTCTTCCCTTTGC	0.493000													50	89					9.22156e-22	1.35504e-21	0.014410	1	0
INTU	27152	broad.mit.edu	37	4	128637585	128637585	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:128637585C>T	ENST00000335251.5	+	16	2926	c.2823C>T	c.(2821-2823)acC>acT	p.T941T		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	941										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGGGTTAACCTTGTAGCTGT	0.358000													22	17					0	0	0.010504	0	0
ZNF300	91975	broad.mit.edu	37	5	150275854	150275854	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:150275854T>C	ENST00000446148.2	-	7	1422	c.995A>G	c.(994-996)cAg>cGg	p.Q332R	ZNF300_ENST00000394226.2_Missense_Mutation_p.Q316R|ZNF300_ENST00000274599.5_Missense_Mutation_p.Q316R|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.Q280R	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAGTTCTCTGATGTACAAC	0.398000													69	43					0	0	0.014410	0	0
SKP2	6502	broad.mit.edu	37	5	36184011	36184011	+	Silent	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:36184011T>G	ENST00000274254.5	+	10	1405	c.1131T>G	c.(1129-1131)acT>acG	p.T377T	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATACAGAACTTCCAAACTCA	0.363000													7	71					0	0	0.001984	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657867	46657867	+	Silent	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:46657867G>C	ENST00000253255.5	-	1	1352	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	451	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGGTCCTTGGAGCACGTGGA	0.408000													43	40					0	0	0.009718	0	0
C16orf93	90835	broad.mit.edu	37	16	30770417	30770417	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30770417C>T	ENST00000543610.1	-	8	1694	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	C16orf93_ENST00000541260.1_Missense_Mutation_p.E310K|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	245										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TTGCTTTCTTCTTTCTCTGCA	0.597000													163	144					0	0	0.014410	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178770807	178770807	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:178770807G>A	ENST00000251582.7	-	2	596	c.495C>T	c.(493-495)gcC>gcT	p.A165A	ADAMTS2_ENST00000274609.5_Silent_p.A165A	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	165					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGAGGCTTCGGCTAGGCCGG	0.652000													6	8					0	0	0.001984	0	0
CHML	1122	broad.mit.edu	37	1	241798273	241798273	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:241798273G>C	ENST00000366553.1	-	1	959	c.796C>G	c.(796-798)Ctt>Gtt	p.L266V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	266					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGAAATGCAAGAATCCTAGTG	0.358000													19	36					0	0	0.006122	0	0
GALNT15	117248	broad.mit.edu	37	3	16254215	16254215	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:16254215G>T	ENST00000339732.5	+	6	1840	c.1337G>T	c.(1336-1338)gGg>gTg	p.G446V	GALNT15_ENST00000437509.1_Missense_Mutation_p.G446V	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		ACCTGGCTGGGGTCATTCAAA	0.557000													41	25					5.44703e-19	7.7149e-19	0.009718	1	0
TTC27	55622	broad.mit.edu	37	2	32859031	32859031	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:32859031C>G	ENST00000317907.4	+	3	586	c.355C>G	c.(355-357)Cag>Gag	p.Q119E		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	119							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTACACCCTCAGGACTTTTT	0.363000													23	64					0	0	0.003330	0	0
PIH1D2	120379	broad.mit.edu	37	11	111938637	111938637	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:111938637G>C	ENST00000280350.4	-	6	1128	c.906C>G	c.(904-906)atC>atG	p.I302M	PIH1D2_ENST00000528775.1_Intron|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I302M|PIH1D2_ENST00000431456.1_Intron	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	302										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATTTTTCTTTGATAAATTTTG	0.333000													38	33					0	0	0.006230	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59950740	59950740	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:59950740C>A	ENST00000247194.4	-	1	408	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		GAGCTGTAGCCCTCGTTGTGC	0.711000											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0.00307968	0.00320441	0.003080	1	0
MAT1A	4143	broad.mit.edu	37	10	82039969	82039969	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:82039969G>C	ENST00000372213.3	-	5	769	c.509C>G	c.(508-510)tCc>tGc	p.S170C		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	170					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAGGAGGCCGGAGCGCCTGAG	0.577000													48	29					0	0	0.014410	0	0
PDE1C	5137	broad.mit.edu	37	7	31864484	31864484	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:31864484G>C	ENST00000396184.3	-	14	1607	c.1403C>G	c.(1402-1404)tCg>tGg	p.S468W	PDE1C_ENST00000396182.2_Missense_Mutation_p.S468W|PDE1C_ENST00000396193.1_Missense_Mutation_p.S528W|PDE1C_ENST00000396191.1_Missense_Mutation_p.S468W|PDE1C_ENST00000321453.7_Missense_Mutation_p.S468W	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	468	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S468*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CACTGACCTCGAACGCCTCTG	0.512000													42	94					0	0	0.014410	0	0
TRAJ37	28718	broad.mit.edu	37	14	22972794	22972794	+	RNA	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:22972794C>A	ENST00000390500.1	+	0	60																											CCAAGTAAAACCAGGTAGGTC	0.393000													16	4					2.4624e-09	2.97806e-09	0.008871	1	0
PSMF1	9491	broad.mit.edu	37	20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552000													209	236					0	0	0.014410	0	0
C12orf50	160419	broad.mit.edu	37	12	88381702	88381702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:88381702G>A	ENST00000298699.2	-	9	922	c.742C>T	c.(742-744)Cga>Tga	p.R248*	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	248										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGTACTAGTCGGGTAGTTAGG	0.343000													23	31					0	0	0.006320	0	0
BMP2	650	broad.mit.edu	37	20	6759467	6759467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:6759467G>A	ENST00000378827.4	+	3	2141	c.922G>A	c.(922-924)Gtg>Atg	p.V308M		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	308					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CTTCAGTGACGTGGGGTGGAA	0.507000													26	87					0	0	0.010818	0	0
PARP9	83666	broad.mit.edu	37	3	122277281	122277281	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:122277281C>A	ENST00000360356.2	-	3	276	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C	PARP9_ENST00000462315.1_Splice_Site_p.E17_splice|PARP9_ENST00000492382.1_Splice_Site_p.D17_splice|PARP9_ENST00000471785.1_Splice_Site_p.E17_splice|PARP9_ENST00000477522.2_Splice_Site_p.E17_splice	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	17					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GTAATCCTACCTGATTTTTCA	0.423000													40	42					1.07121e-22	1.5993e-22	0.006999	1	0
DOCK9	23348	broad.mit.edu	37	13	99481561	99481561	+	Splice_Site	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:99481561C>G	ENST00000376460.1	-	43	4976	c.4896_splice	c.e43+1	p.E1632_splice	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Splice_Site_p.E1633_splice	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1633	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTACTACCTCTGAGAGAT	0.488000													4	2					0	0	0.000602	0	0
C1orf173	127254	broad.mit.edu	37	1	75072536	75072536	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:75072536C>A	ENST00000326665.5	-	10	1456	c.1238G>T	c.(1237-1239)aGg>aTg	p.R413M	C1orf173_ENST00000420661.2_Missense_Mutation_p.R216M|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	413										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTTCTTTCCTAGATTTCGG	0.408000													47	34					2.47907e-22	3.67909e-22	0.014410	1	0
SNHG14	104472715	broad.mit.edu	37	15	25423728	25423728	+	RNA	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:25423728A>C	ENST00000441592.2	+	0	299																											TTGCTTTGGGACCGCTGGCCC	0.617000													7	21					0	0	0.001984	0	0
ZNF83	55769	broad.mit.edu	37	19	53122257	53122257	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:53122257A>T	ENST00000600714.1	-	4	356	c.74T>A	c.(73-75)cTg>cAg	p.L25Q	ZNF83_ENST00000597161.1_Missense_Mutation_p.L25Q|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000596930.1_Missense_Mutation_p.L25Q|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000601257.1_Missense_Mutation_p.L25Q			P51522	ZNF83_HUMAN	zinc finger protein 83	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AGCAGGGTCCAGGCATTTCCA	0.468000													36	135					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237817705	237817705	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237817705G>T	ENST00000366574.2	+	52	8273	c.7956G>T	c.(7954-7956)ctG>ctT	p.L2652L	RYR2_ENST00000542537.1_Silent_p.L2636L|RYR2_ENST00000360064.6_Silent_p.L2650L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2652	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATGCCCTGTCTCAAAAGG	0.378000													11	24					2.80697e-09	3.38381e-09	0.010729	1	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139107	90139107	+	RNA	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:90139107G>T	ENST00000492446.1	+	0	30																											GACACAGCATGGACATGAGGG	0.537000													63	235					6.8682e-38	1.09568e-37	0.014410	1	0
CCT6P3	643180	broad.mit.edu	37	7	64525420	64525420	+	RNA	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:64525420C>T	ENST00000426828.1	+	0	250					NR_033416.1																						AAGGTAGCAACAGCCCAGGAT	0.393000													22	68					0	0	0.004656	0	0
SCN11A	11280	broad.mit.edu	37	3	38889201	38889201	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:38889201G>T	ENST00000450244.1	-	26	4558	c.4360C>A	c.(4360-4362)Cac>Aac	p.H1454N	SCN11A_ENST00000456224.3_Missense_Mutation_p.H1416N|SCN11A_ENST00000302328.3_Missense_Mutation_p.H1454N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1454					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAAGGAATGTGCTCCTGATTT	0.502000													19	10					4.30721e-22	6.37946e-22	0.010504	1	0
CCDC126	90693	broad.mit.edu	37	7	23682551	23682551	+	Splice_Site	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:23682551G>T	ENST00000307471.3	+	4	697	c.238_splice	c.e4-1	p.A80_splice	CCDC126_ENST00000409765.1_Splice_Site_p.A80_splice|CCDC126_ENST00000410069.1_Splice_Site_p.A80_splice	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	80						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						TTCCCCTAGCGGATCTGAAAA	0.368000													25	35					3.7963e-18	5.29634e-18	0.003330	1	0
RIPK2	8767	broad.mit.edu	37	8	90777691	90777691	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:90777691G>A	ENST00000220751.4	+	3	764	c.450G>A	c.(448-450)caG>caA	p.Q150Q	RIPK2_ENST00000540020.1_Silent_p.Q13Q	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	150	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|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	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGAAGACTCAGAATATCTTAT	0.313000													7	90					0	0	0.004482	0	0
ASIC2	40	broad.mit.edu	37	17	31340990	31340990	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:31340990G>T	ENST00000225823.2	-	10	2557	c.1685C>A	c.(1684-1686)gCc>gAc	p.A562D	ASIC2_ENST00000359872.6_Missense_Mutation_p.A511D	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	511					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GTGTCAGCAGGCAATCTCCTC	0.572000													4	6					1.23904e-05	1.35948e-05	0.000602	1	0
KRTAP5-9	3846	broad.mit.edu	37	11	71260116	71260116	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:71260116C>T	ENST00000528743.2	+	1	651	c.413C>T	c.(412-414)tCa>tTa	p.S138L		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	138	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TGCTCATCCTCAGGCTGTGGG	0.612000													93	163					0	0	0.014410	0	0
MASP1	5648	broad.mit.edu	37	3	186944202	186944202	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:186944202G>T	ENST00000337774.5	-	12	1937	c.1548C>A	c.(1546-1548)atC>atA	p.I516I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	516	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACCCAGGATGATTTTGAAGT	0.567000													6	21					5.9392e-07	6.73471e-07	0.001168	1	0
OR2M2	391194	broad.mit.edu	37	1	248343675	248343675	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248343675C>A	ENST00000359682.2	+	1	388	c.388C>A	c.(388-390)Cta>Ata	p.L130I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	130					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)			TTGCCACCCTCTAAGATATAC	0.403000													133	263					1.14977e-51	1.87846e-51	0.014410	1	0
NSUN2	54888	broad.mit.edu	37	5	6609987	6609987	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:6609987T>A	ENST00000264670.6	-	12	1586	c.1275A>T	c.(1273-1275)gcA>gcT	p.A425A	NSUN2_ENST00000506139.1_Silent_p.A390A|NSUN2_ENST00000539938.1_Silent_p.A189A	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	425						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCACCAATACTGCCACAAAAA	0.328000													35	40					0	0	0.009718	0	0
PCDH17	27253	broad.mit.edu	37	13	58298958	58298958	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:58298958G>C	ENST00000377918.3	+	4	3036	c.3010G>C	c.(3010-3012)Gac>Cac	p.D1004H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1004					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATTTGGAAAAGACAAGCGAGA	0.433000													55	23					0	0	0.014410	0	0
CNTN4	152330	broad.mit.edu	37	3	3081938	3081938	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:3081938T>G	ENST00000397461.1	+	19	2765	c.2381T>G	c.(2380-2382)gTg>gGg	p.V794G	CNTN4_ENST00000418658.1_Missense_Mutation_p.V794G|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.V466G|CNTN4_ENST00000427331.1_Missense_Mutation_p.V794G|CNTN4_ENST00000358480.3_Missense_Mutation_p.V575G|CNTN4_ENST00000397459.2_Missense_Mutation_p.V466G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	794	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACCACGGTGGTGTATTCTGCA	0.428000													25	17					0	0	0.003330	0	0
ATP10B	23120	broad.mit.edu	37	5	160029629	160029629	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:160029629G>A	ENST00000327245.5	-	21	4164	c.3318C>T	c.(3316-3318)taC>taT	p.Y1106Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1106					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGCGCGAGTAACACCAGT	0.567000													22	10					0	0	0.010504	0	0
FLRT2	23768	broad.mit.edu	37	14	86088031	86088031	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:86088031C>G	ENST00000330753.4	+	2	940	c.173C>G	c.(172-174)cCt>cGt	p.P58R	FLRT2_ENST00000554746.1_Missense_Mutation_p.P58R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	58	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACCTCAGTGCCTCTTGGGATC	0.522000													157	48					0	0	0.014410	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188217	140188217	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140188217C>A	ENST00000530339.1	+	1	1445	c.1445C>A	c.(1444-1446)gCg>gAg	p.A482E	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A482E|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A482E|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGGACGCGGACGCGCAG	0.657000													36	28					1.71298e-08	2.03536e-08	0.003755	1	0
TTN	7273	broad.mit.edu	37	2	179443986	179443986	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179443986G>C	ENST00000589042.1	-	320	67995	c.67771C>G	c.(67771-67773)Cta>Gta	p.L22591V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L13526V|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L13651V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L13718V|TTN_ENST00000342992.6_Missense_Mutation_p.L20023V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L20950V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20950	Fibronectin type-III 64.						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)			TCAGTTGCTAGAGGATCTTCC	0.438000													55	65					0	0	0.014410	0	0
TMC4	147798	broad.mit.edu	37	19	54666867	54666867	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54666867G>C	ENST00000376591.4	-	9	1452	c.1321C>G	c.(1321-1323)Ctg>Gtg	p.L441V	TMC4_ENST00000416963.1_Missense_Mutation_p.L23V|TMC4_ENST00000301187.4_Missense_Mutation_p.L435V	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	441						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGACCACCAGGGAGGCGAGG	0.577000													15	30					0	0	0.003163	0	0
TRHDE	29953	broad.mit.edu	37	12	72936127	72936127	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:72936127G>A	ENST00000261180.4	+	7	1740	c.1644G>A	c.(1642-1644)agG>agA	p.R548R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	548					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTTCCAGAGGGGTTTGCAAG	0.308000													16	20					0	0	0.004007	0	0
RBFOX1	54715	broad.mit.edu	37	16	7102088	7102088	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:7102088G>A	ENST00000547372.1	+	4	451	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RBFOX1_ENST00000422070.4_Missense_Mutation_p.E49K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000547427.1_3'UTR|RBFOX1_ENST00000547338.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.E6K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E42K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E42K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	6					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						TTGTGAAAGAGAGCAGCTAAG	0.398000													8	17					0	0	0.006214	0	0
ZNF425	155054	broad.mit.edu	37	7	148800930	148800930	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:148800930C>T	ENST00000378061.2	-	4	2165	c.2033G>A	c.(2032-2034)aGg>aAg	p.R678K		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	678					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAAGCTGCCCCTGATGCAGTA	0.547000													56	95					0	0	0.014410	0	0
FMN2	56776	broad.mit.edu	37	1	240370334	240370334	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:240370334C>T	ENST00000319653.9	+	5	2452	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	741					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATTTTAGAGGCGAAATCGATA	0.567000													10	27					0	0	0.008291	0	0
TAF1L	138474	broad.mit.edu	37	9	32633172	32633172	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:32633172G>A	ENST00000242310.4	-	1	2495	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	802					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACACTGCTGGCCAACCACAA	0.423000													53	112					0	0	0.014410	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997435	59997435	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:59997435A>T	ENST00000427611.2	-	2	240	c.21T>A	c.(19-21)tgT>tgA	p.C7*	MS4A4E_ENST00000398986.2_Missense_Mutation_p.C32S|MS4A4E_ENST00000398984.2_Missense_Mutation_p.C32S|MS4A4E_ENST00000526086.1_Missense_Mutation_p.C32S|MS4A4E_ENST00000528394.1_Missense_Mutation_p.C32S|MS4A4E_ENST00000425663.1_Missense_Mutation_p.C32S					membrane-spanning 4-domains, subfamily A, member 4E											ovary(1)	1						AATCCTTTACACAGATATGAA	0.463000													12	15					0	0	0.010729	0	0
STEAP2	261729	broad.mit.edu	37	7	89856546	89856546	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:89856546A>G	ENST00000287908.3	+	3	1147	c.754A>G	c.(754-756)Ata>Gta	p.I252V	STEAP2_ENST00000394632.1_Missense_Mutation_p.I252V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I252V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I252V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	252					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAAAATTCCTATAGAGATTGT	0.378000													36	62					0	0	0.005524	0	0
NXPE1	120400	broad.mit.edu	37	11	114393726	114393726	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:114393726G>A	ENST00000536271.1	-	3	1374	c.131C>T	c.(130-132)aCa>aTa	p.T44I	NXPE1_ENST00000251921.2_Missense_Mutation_p.T186I|NXPE1_ENST00000424269.1_Missense_Mutation_p.T328I					neurexophilin and PC-esterase domain family, member 1																		GTTGCAAAATGTTGTTATCCA	0.403000													19	12					0	0	0.007413	0	0
NUP62	23636	broad.mit.edu	37	19	50412135	50412135	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50412135C>A	ENST00000596217.1	-	2	2817	c.930G>T	c.(928-930)gtG>gtT	p.V310V	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.V310V|NUP62_ENST00000352066.3_Silent_p.V310V|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.V310V|NUP62_ENST00000597029.1_Silent_p.V310V|NUP62_ENST00000597723.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	310	Ala-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)		GTGGAGCGGTCACGGCAGCTG	0.652000													25	54					4.22769e-11	5.34742e-11	0.006320	1	0
PXDN	7837	broad.mit.edu	37	2	1652098	1652098	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1652098G>T	ENST00000252804.4	-	17	3504	c.3454C>A	c.(3454-3456)Ctg>Atg	p.L1152M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1152					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCCAGGTCCAGAGCCACCGTG	0.647000													24	42					1.37878e-21	2.01806e-21	0.003330	1	0
PIGR	5284	broad.mit.edu	37	1	207106357	207106357	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:207106357C>A	ENST00000356495.4	-	7	2043	c.1860G>T	c.(1858-1860)ggG>ggT	p.G620G		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	620						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATGCTCTGCTCCCATCGGCTT	0.557000													25	63					3.65163e-15	4.9463e-15	0.006320	1	0
FAN1	22909	broad.mit.edu	37	15	31197880	31197880	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:31197880G>A	ENST00000362065.4	+	2	1305	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	FAN1_ENST00000561594.1_Silent_p.E338E|FAN1_ENST00000565466.1_Silent_p.E338E|FAN1_ENST00000561607.1_Silent_p.E338E	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	338					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACATCCAAGAGGCTCCTCTGC	0.458000								Direct reversal of damage					30	68					0	0	0.007291	0	0
PSMB2	5690	broad.mit.edu	37	1	36068886	36068886	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:36068886G>A	ENST00000373237.3	-	6	999	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	CCTGTTTGGGGAAGGAAATGT	0.458000													12	54					0	0	0.001855	0	0
SEL1L	6400	broad.mit.edu	37	14	81953772	81953772	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:81953772C>T	ENST00000336735.4	-	16	1710	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	532	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACGCCGGTGCCACTGGCATGC	0.478000													60	17					0	0	0.014410	0	0
CDH22	64405	broad.mit.edu	37	20	44839176	44839176	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:44839176G>T	ENST00000372262.3	-	6	1456	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.P352P	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	352	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTGTGCACGGGCTGGGATT	0.677000													16	11					2.94398e-08	3.47036e-08	0.007413	1	0
SNHG14	104472715	broad.mit.edu	37	15	25488662	25488662	+	RNA	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:25488662G>T	ENST00000453082.2	+	0	2290					NR_003343.1																						AGGCGCTGAAGCTCAGGCCCT	0.627000													15	50					3.27435e-08	3.84156e-08	0.002450	1	0
SLC9B1	150159	broad.mit.edu	37	4	103870556	103870556	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:103870556C>A	ENST00000296422.7	-	4	381	c.240G>T	c.(238-240)atG>atT	p.M80I	SLC9B1_ENST00000394789.3_Missense_Mutation_p.M80I	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	80						integral to membrane	solute:hydrogen antiporter activity										TTGACCAGGTCATACACCATA	0.338000													37	35					9.14704e-12	1.1729e-11	0.008740	1	0
CWH43	80157	broad.mit.edu	37	4	49000563	49000563	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:49000563C>T	ENST00000226432.4	+	6	983	c.800C>T	c.(799-801)aCa>aTa	p.T267I	CWH43_ENST00000513409.1_Missense_Mutation_p.T240I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	267					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						TGGTGGGTTACAGGTATGTGG	0.453000													48	20					0	0	0.014410	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	RNA	SNP	C	C	T	rs142431664	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:142713407C>T	ENST00000369381.2	-	0	1198																											CAGTAAGAAACTCATTCTTAT	0.318000													4	8					0	0	0.000602	0	0
POTEC	388468	broad.mit.edu	37	18	14542920	14542920	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:14542920C>T	ENST00000358970.5	-	1	225	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	76										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCGTGCCGCTCCCCCTG	0.572000													14	402					0	0	0.006122	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164299	150164299	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:150164299G>A	ENST00000307271.3	+	2	1087	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	171						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)		TCAACAACAAGACCAATAGTA	0.443000													8	142					0	0	0.004482	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800700	74800700	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:74800700C>T	ENST00000305159.3	-	1	99	c.59G>A	c.(58-60)gGc>gAc	p.G20D		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGAGGGGATGCCCAATAGATA	0.507000													28	39					0	0	0.007291	0	0
KANTR	102723508	broad.mit.edu	37	X	53172355	53172355	+	RNA	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53172355G>A	ENST00000604849.1	+	0	918																											GTTGCCGATGGTGATGACCTG	0.572000													16	35					0	0	0.003163	0	0
EEF2K	29904	broad.mit.edu	37	16	22271832	22271832	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:22271832T>G	ENST00000263026.5	+	11	1755	c.1281T>G	c.(1279-1281)gaT>gaG	p.D427E		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	427					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GAGACCATGATCATCTAGACA	0.542000													60	91					0	0	0.014410	0	0
MROH5	389690	broad.mit.edu	37	8	142486153	142486153	+	RNA	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:142486153C>G	ENST00000430863.1	-	0	1620					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GTGTGCTTCTCCAGGGCATCC	0.642000													6	19					0	0	0.001168	0	0
SPRED2	200734	broad.mit.edu	37	2	65540979	65540979	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:65540979C>G	ENST00000356388.4	-	6	1102	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	SPRED2_ENST00000443619.2_Missense_Mutation_p.E302Q	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	305					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CGCGAGCGCTCTCCGTCCTCC	0.682000													20	94					0	0	0.012319	0	0
ZNF709	163051	broad.mit.edu	37	19	12577309	12577309	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:12577309A>C	ENST00000397732.3	-	3	326	c.155T>G	c.(154-156)aTt>aGt	p.I52S	ZNF709_ENST00000428311.1_Missense_Mutation_p.I52S|CTD-3105H18.18_ENST00000598753.1_Missense_Mutation_p.I52S	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTGATCTTCAATGTTCTTCTC	0.338000													7	113					0	0	0.003080	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59950741	59950741	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:59950741C>A	ENST00000247194.4	-	1	407	c.294G>T	c.(292-294)gaG>gaT	p.E98D	RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		AGCTGTAGCCCTCGTTGTGCA	0.706000											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0.00307968	0.00320441	0.003080	1	0
SYT11	23208	broad.mit.edu	37	1	155837912	155837912	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:155837912T>C	ENST00000368324.4	+	2	444	c.191T>C	c.(190-192)aTa>aCa	p.I64T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	64						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGCATCAGCATATACCCAGAG	0.502000													33	70					0	0	0.003755	0	0
BMX	660	broad.mit.edu	37	X	15543445	15543445	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:15543445C>G	ENST00000357607.2	+	8	975	c.787C>G	c.(787-789)Caa>Gaa	p.Q263E	BMX_ENST00000342014.6_Missense_Mutation_p.Q263E|BMX_ENST00000348343.6_Missense_Mutation_p.Q263E			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	263					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAGCAGTAACCAAAAAGAAAG	0.313000													15	68					0	0	0.004007	0	0
FAM135B	51059	broad.mit.edu	37	8	139149455	139149455	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:139149455C>G	ENST00000395297.1	-	19	4120	c.3950G>C	c.(3949-3951)cGt>cCt	p.R1317P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1317										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGCACATAACGGTCTTGGGG	0.413000										HNSCC(54;0.14)			24	117					0	0	0.008361	0	0
CIB2	10518	broad.mit.edu	37	15	78398049	78398049	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78398049C>T	ENST00000560618.1	-	4	586	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	CIB2_ENST00000258930.3_Intron|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_Intron			O75838	CIB2_HUMAN	calcium and integrin binding family member 2	0	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CTGCTCTGCCCTGCCCAAGCC	0.632000													17	34					0	0	0.006122	0	0
TPPP	11076	broad.mit.edu	37	5	677917	677917	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:677917C>A	ENST00000360578.5	-	2	380	c.259G>T	c.(259-261)Gac>Tac	p.D87Y		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	87	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCCTGCCGTCGATCACCTGG	0.642000													33	56					8.4185e-14	1.11996e-13	0.012213	1	0
KIF13B	23303	broad.mit.edu	37	8	29037627	29037627	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:29037627C>T	ENST00000524189.1	-	8	752	c.714G>A	c.(712-714)aaG>aaA	p.K238K	KIF13B_ENST00000521515.1_Silent_p.K238K	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	238	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTACCCCAGACTTCACATCGT	0.408000													52	135					0	0	0.014410	0	0
DACT1	51339	broad.mit.edu	37	14	59112862	59112862	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:59112862A>G	ENST00000395153.3	+	4	1557	c.1410A>G	c.(1408-1410)aaA>aaG	p.K470K	DACT1_ENST00000556859.1_Silent_p.K226K|DACT1_ENST00000335867.4_Silent_p.K507K|DACT1_ENST00000395151.3_Silent_p.K226K|DACT1_ENST00000541264.2_Silent_p.K226K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	507					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGCCCCTGAAAAAGATGTCAC	0.592000													159	29					0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158627344	158627344	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158627344C>G	ENST00000368148.3	-	19	2908	c.2728G>C	c.(2728-2730)Gaa>Caa	p.E910Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.E910Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	910					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTCTGCTTCATGCAGGTCA	0.473000													71	111					0	0	0.014410	0	0
GAPDH	2597	broad.mit.edu	37	12	6646845	6646845	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:6646845C>A	ENST00000229239.5	+	8	1287	c.621C>A	c.(619-621)atC>atA	p.I207I	GAPDH_ENST00000396859.1_Silent_p.I207I|GAPDH_ENST00000396861.1_Silent_p.I207I|GAPDH_ENST00000396856.1_Silent_p.I132I|GAPDH_ENST00000396858.1_Silent_p.I165I	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	207					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	AGAACATCATCCCTGCCTCTA	0.622000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					0.000308642	0.000328015	0.003163	1	0
LAIR2	3904	broad.mit.edu	37	19	55019221	55019221	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55019221G>T	ENST00000301202.2	+	3	308	c.186G>T	c.(184-186)agG>agT	p.R62S	LAIR2_ENST00000351841.2_Missense_Mutation_p.R62S	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	62	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCCTGGAGAGGGAGGATAGAG	0.527000													50	76					1.23713e-20	1.79311e-20	0.014410	1	0
RHEBL1	121268	broad.mit.edu	37	12	49460759	49460759	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:49460759C>T	ENST00000301068.6	-	3	423	c.184G>A	c.(184-186)Gca>Aca	p.A62T		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	62					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						ACCTGCCCTGCTGTGTCCACC	0.453000													5	66					0	0	0.001168	0	0
BSN	8927	broad.mit.edu	37	3	49690362	49690362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:49690362G>C	ENST00000296452.4	+	5	3487	c.3373G>C	c.(3373-3375)Gag>Cag	p.E1125Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1125					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCTGCTCTGAGTACTCACC	0.612000													36	27					0	0	0.004289	0	0
TENM2	57451	broad.mit.edu	37	5	167655022	167655022	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:167655022A>G	ENST00000519204.1	+	24	5162	c.5044A>G	c.(5044-5046)Att>Gtt	p.I1682V	TENM2_ENST00000518659.1_Missense_Mutation_p.I1803V|TENM2_ENST00000520394.1_Missense_Mutation_p.I1564V|TENM2_ENST00000403607.2_Missense_Mutation_p.I1627V|TENM2_ENST00000545108.1_Missense_Mutation_p.I1802V					teneurin transmembrane protein 2																		CACCCCCACCATTGGACGCTG	0.512000													14	5					0	0	0.002450	0	0
DEGS2	123099	broad.mit.edu	37	14	100615483	100615483	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:100615483G>C	ENST00000305631.5	-	2	1222	c.647C>G	c.(646-648)tCc>tGc	p.S216C	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	216					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCAGGAAGGAGCTGGCCAG	0.647000													83	17					0	0	0.014410	0	0
FAM65C	140876	broad.mit.edu	37	20	49221286	49221286	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:49221286C>G	ENST00000327979.2	-	12	1381	c.970G>C	c.(970-972)Gtg>Ctg	p.V324L	FAM65C_ENST00000535356.1_Missense_Mutation_p.V328L|FAM65C_ENST00000045083.2_Missense_Mutation_p.V324L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	324										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						CTGGGTGACACCAGGAAGCTC	0.602000													10	13					0	0	0.006214	0	0
TCTN2	79867	broad.mit.edu	37	12	124191294	124191294	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:124191294G>T	ENST00000303372.5	+	16	1919	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	TCTN2_ENST00000426174.2_Missense_Mutation_p.Q596H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	597					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGAACTGGCAGTACCAGTGTG	0.502000													39	61					2.26627e-22	3.37001e-22	0.007835	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318731	21318731	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21318731C>T	ENST00000583088.1	+	3	972	c.77C>T	c.(76-78)tCg>tTg	p.S26L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S26L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GTCACCATGTCGGGCGCCAAC	0.662000										Prostate(3;0.18)			4	45					0	0	0.009096	0	0
OTOGL	283310	broad.mit.edu	37	12	80655759	80655759	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:80655759G>A	ENST00000458043.2	+	18	1879	c.1873G>A	c.(1873-1875)Ggc>Agc	p.G625S	OTOGL_ENST00000547103.1_Missense_Mutation_p.G625S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCTCCATCAGGCATGATAGA	0.393000													9	43					0	0	0.010729	0	0
DDR2	4921	broad.mit.edu	37	1	162731083	162731083	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:162731083G>T	ENST00000367922.2	+	10	1376	c.938G>T	c.(937-939)tGg>tTg	p.W313L	DDR2_ENST00000367921.3_Missense_Mutation_p.W313L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	313					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCCAGTGAGTGGGAACCTAAT	0.527000													28	30					2.12542e-12	2.76341e-12	0.006320	1	0
C1R	715	broad.mit.edu	37	12	7188341	7188341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:7188341C>A	ENST00000542285.1	-	11	1606	c.1457G>T	c.(1456-1458)cGc>cTc	p.R486L				P00736	C1R_HUMAN	complement component 1, r subcomponent	538	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GCTGACCCTGCGGATGGGGTG	0.552000													30	98					2.46105e-21	3.59507e-21	0.010818	1	0
GPR112	139378	broad.mit.edu	37	X	135431250	135431250	+	Silent	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135431250T>G	ENST00000394143.1	+	6	5676	c.5385T>G	c.(5383-5385)acT>acG	p.T1795T	GPR112_ENST00000412101.1_Silent_p.T1590T|GPR112_ENST00000287534.4_Silent_p.T1732T|GPR112_ENST00000394141.1_Silent_p.T1590T|GPR112_ENST00000370652.1_Silent_p.T1795T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1795					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCTAATACTAGAAAGATGA	0.398000													31	111					0	0	0.003271	0	0
GPR6	2830	broad.mit.edu	37	6	110301114	110301114	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:110301114G>T	ENST00000414000.2	+	3	1083	c.844G>T	c.(844-846)Gcg>Tcg	p.A282S	GPR6_ENST00000275169.3_Missense_Mutation_p.A267S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	267						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCACTGCCTGGCGCCACCCCA	0.637000													7	37					5.4927e-09	6.55779e-09	0.004482	1	0
OR52D1	390066	broad.mit.edu	37	11	5510563	5510563	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5510563C>A	ENST00000322641.5	+	1	649	c.627C>A	c.(625-627)gcC>gcA	p.A209A	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCTGGCCATGGGACTGG	0.483000													93	167					1.10192e-24	1.66856e-24	0.014410	1	0
IREB2	3658	broad.mit.edu	37	15	78765606	78765606	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78765606A>G	ENST00000258886.8	+	8	1055	c.906A>G	c.(904-906)gaA>gaG	p.E302E	IREB2_ENST00000560440.1_Silent_p.E302E	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	302							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTGAAACAGAAGCAGTTATGC	0.388000													50	117					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179439363	179439363	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179439363G>T	ENST00000589042.1	-	326	71720	c.71496C>A	c.(71494-71496)acC>acA	p.T23832T	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.T14767T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T14892T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T14959T|TTN_ENST00000342992.6_Silent_p.T21264T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.T22191T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22191	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACCTGAGGGGTACCAGGAG	0.448000													18	87					3.51602e-12	4.55553e-12	0.008871	1	0
TRPC5	7224	broad.mit.edu	37	X	111090412	111090412	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:111090412T>A	ENST00000262839.2	-	6	2548	c.1630A>T	c.(1630-1632)Acc>Tcc	p.T544S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	544					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATAGCTCTGGTTTCATAATAG	0.433000													54	36					0	0	0.014410	0	0
IREB2	3658	broad.mit.edu	37	15	78758820	78758820	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:78758820A>G	ENST00000258886.8	+	5	767	c.618A>G	c.(616-618)caA>caG	p.Q206Q	IREB2_ENST00000560440.1_Silent_p.Q206Q|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	206							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTCATTTGCAACCAGTGCCTG	0.383000													23	51					0	0	0.003954	0	0
OR10A4	283297	broad.mit.edu	37	11	6898647	6898647	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:6898647A>T	ENST00000379829.2	+	1	792	c.769A>T	c.(769-771)Atc>Ttc	p.I257F		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGCACTGCCATCCTCACGTA	0.527000													52	72					0	0	0.014410	0	0
TAF3	83860	broad.mit.edu	37	10	8006089	8006089	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:8006089G>A	ENST00000344293.5	+	3	822	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	206					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGACACGCTAGATGTTGTGTT	0.478000													36	28					0	0	0.004878	0	0
CDH6	1004	broad.mit.edu	37	5	31323142	31323142	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:31323142C>A	ENST00000265071.2	+	12	2365	c.2100C>A	c.(2098-2100)ccC>ccA	p.P700P		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTCCTACCCCGACGGACTC	0.517000													15	50					0.000308642	0.000328015	0.003163	1	0
TNRC6A	27327	broad.mit.edu	37	16	24800997	24800997	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:24800997G>C	ENST00000395799.3	+	6	1163	c.1034G>C	c.(1033-1035)tGg>tCg	p.W345S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W345S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	345	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGAATGCTTGGGGCACTGTA	0.438000													45	101					0	0	0.014410	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188563	140188563	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140188563G>A	ENST00000530339.1	+	1	1791	c.1791G>A	c.(1789-1791)gtG>gtA	p.V597V	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.V597V|PCDHA4_ENST00000356878.4_Silent_p.V597V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCGGTGGATGCTGACT	0.692000													41	21					0	0	0.011902	0	0
NOS2	4843	broad.mit.edu	37	17	26084314	26084314	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:26084314C>A	ENST00000313735.6	-	27	3653	c.3420G>T	c.(3418-3420)agG>agT	p.R1140S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1140					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCACCGCCACCCTGTCCTTCT	0.537000											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	57					4.527e-37	7.20644e-37	0.005524	1	0
SLFN13	146857	broad.mit.edu	37	17	33768373	33768373	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:33768373G>A	ENST00000285013.6	-	6	2210	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	SLFN13_ENST00000526861.1_Silent_p.I645I|SLFN13_ENST00000534689.1_Silent_p.I327I|SLFN13_ENST00000533791.1_Silent_p.I645I|SLFN13_ENST00000542635.1_Silent_p.I645I|SLFN13_ENST00000360502.2_Silent_p.I327I	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	645						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCTCGGCAGATATTTCTAT	0.388000													26	53					0	0	0.004656	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239568	135239568	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:135239568G>T	ENST00000265605.2	-	7	1517	c.1449C>A	c.(1447-1449)atC>atA	p.I483I	ALDH8A1_ENST00000367847.2_Silent_p.I433I|ALDH8A1_ENST00000367845.2_Silent_p.I429I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	483					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTTAACGGTGATGGTTTTGA	0.478000													13	30					1.49906e-05	1.64235e-05	0.002450	1	0
REG1A	5967	broad.mit.edu	37	2	79349979	79349979	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:79349979C>T	ENST00000233735.1	+	5	437	c.334C>T	c.(334-336)Cac>Tac	p.H112Y		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	112	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCGCCGCTGGCACTGGAGCAG	0.557000													34	120					0	0	0.007835	0	0
IFRD1	3475	broad.mit.edu	37	7	112097034	112097034	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:112097034A>G	ENST00000403825.3	+	4	611	c.350A>G	c.(349-351)gAa>gGa	p.E117G	IFRD1_ENST00000005558.4_Missense_Mutation_p.E117G|IFRD1_ENST00000429071.1_Missense_Mutation_p.E117G|IFRD1_ENST00000535603.1_Missense_Mutation_p.E67G	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	117					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						ATGCTGTATGAATTTATTCTG	0.368000													26	40					0	0	0.005443	0	0
TBX10	347853	broad.mit.edu	37	11	67399229	67399229	+	Silent	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:67399229C>G	ENST00000335385.3	-	8	1092	c.1005G>C	c.(1003-1005)ccG>ccC	p.P335P		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	335					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTAGGTGGCTCGGGGCTCCAG	0.652000													7	12					0	0	0.001984	0	0
ATP13A3	79572	broad.mit.edu	37	3	194149602	194149602	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:194149602C>T	ENST00000439040.1	-	28	3710	c.2919G>A	c.(2917-2919)ctG>ctA	p.L973L	ATP13A3_ENST00000256031.4_Silent_p.L973L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	973					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAATGATTGCCAGATCAATGA	0.274000													12	94					0	0	0.003163	0	0
COL6A2	1292	broad.mit.edu	37	21	47545908	47545908	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:47545908G>T	ENST00000300527.4	+	26	2283	c.2179G>T	c.(2179-2181)Gcg>Tcg	p.A727S	COL6A2_ENST00000409416.1_Missense_Mutation_p.A727S|COL6A2_ENST00000397763.1_Missense_Mutation_p.A727S|COL6A2_ENST00000310645.5_Missense_Mutation_p.A727S|COL6A2_ENST00000357838.4_Missense_Mutation_p.A727S	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	727	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACGTGTGTTTGCGGTGGTCAT	0.657000													12	31					3.03607e-14	4.06812e-14	0.013537	1	0
GRIN2A	2903	broad.mit.edu	37	16	9923430	9923430	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:9923430G>T	ENST00000396573.2	-	10	2166	c.1857C>A	c.(1855-1857)gtC>gtA	p.V619V	GRIN2A_ENST00000535259.1_Silent_p.V462V|GRIN2A_ENST00000330684.3_Silent_p.V619V|GRIN2A_ENST00000404927.2_Silent_p.V619V|GRIN2A_ENST00000562109.1_Silent_p.V619V|GRIN2A_ENST00000396575.2_Silent_p.V619V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	619					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGATTCTGGACAGGCACGG	0.488000													34	64					4.3181e-19	6.13928e-19	0.013726	1	0
RPL8	6132	broad.mit.edu	37	8	146017246	146017246	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:146017246C>A	ENST00000262584.3	-	3	424	c.192G>T	c.(190-192)cgG>cgT	p.R64R	RPL8_ENST00000527914.1_Intron|RPL8_ENST00000528957.1_Silent_p.R64R|RPL8_ENST00000394920.2_Silent_p.R64R|RPL8_ENST00000529163.1_Intron	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	64					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GATACGGATCCCGGAAGACCA	0.657000													33	171					3.28013e-08	3.84229e-08	0.004878	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971035	21971035	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:21971035T>A	ENST00000304494.5	-	2	593	c.323A>T	c.(322-324)gAt>gTt	p.D108V	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000530628.2_Silent_p.R122R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57V|CDKN2A_ENST00000361570.3_Silent_p.R163R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57V|CDKN2A_ENST00000579755.1_Silent_p.R122R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	108			D -> H (in a bladder tumor).|D -> Y (in a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D108G(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R163R(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCAGGCATCGCGCACGTC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			23	4					0	0	0.012319	0	0
OR10A4	283297	broad.mit.edu	37	11	6898646	6898646	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:6898646C>A	ENST00000379829.2	+	1	791	c.768C>A	c.(766-768)gcC>gcA	p.A256A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAGCACTGCCATCCTCACGT	0.527000													53	71					4.88482e-21	7.12171e-21	0.014410	1	0
PLSCR4	57088	broad.mit.edu	37	3	145917674	145917674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:145917674G>A	ENST00000354952.2	-	6	790	c.550C>T	c.(550-552)Cga>Tga	p.R184*	PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.R184*|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.R184*|PLSCR4_ENST00000383083.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	184					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						ATGATTTCTCGGCCCATACAA	0.502000													15	15					0	0	0.003163	0	0
TLR4	7099	broad.mit.edu	37	9	120476132	120476132	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:120476132C>A	ENST00000355622.6	+	3	1827	c.1726C>A	c.(1726-1728)Ctt>Att	p.L576I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.L536I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	576					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTTCTTAAATCTTACTCAGAA	0.413000													17	34					0.000422831	0.000448731	0.004007	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133291	91133291	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:91133291G>T	ENST00000373094.1	+	2	2897	c.2052G>T	c.(2050-2052)ttG>ttT	p.L684F	PCDH11X_ENST00000504220.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L684F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L684F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L684F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L684F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	684	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTATGAATTGGTTCTACCGT	0.423000													73	53					8.87156e-34	1.39437e-33	0.014410	1	0
BRINP2	57795	broad.mit.edu	37	1	177226407	177226407	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:177226407A>T	ENST00000361539.4	+	4	868	c.556A>T	c.(556-558)Agc>Tgc	p.S186C	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		186						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAGTGGGAACAGCACAGCTGT	0.557000													16	33					0	0	0.004990	0	0
CD1E	913	broad.mit.edu	37	1	158325824	158325824	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:158325824G>C	ENST00000444681.2	+	3	829	c.536G>C	c.(535-537)gGg>gCg	p.G179A	CD1E_ENST00000434258.1_Missense_Mutation_p.G276A|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.G89A|CD1E_ENST00000368166.3_Missense_Mutation_p.G89A|CD1E_ENST00000368156.1_Missense_Mutation_p.G188A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G278A|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G278A|CD1E_ENST00000368165.3_Missense_Mutation_p.G188A|CD1E_ENST00000368163.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	278					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGGCGGCTGGGGAGGCAGCT	0.607000													39	64					0	0	0.008740	0	0
CSMD2	114784	broad.mit.edu	37	1	34123627	34123627	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:34123627C>T	ENST00000373381.4	-	27	4542	c.4366G>A	c.(4366-4368)Gcg>Acg	p.A1456T	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A329T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1416	CUB 9.					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)				CCCTGCAGCGCGTAGCCAGGG	0.592000													44	22					0	0	0.009718	0	0
KIAA1257	57501	broad.mit.edu	37	3	128695838	128695838	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:128695838C>T	ENST00000265068.5	-	6	1047	c.880G>A	c.(880-882)Gat>Aat	p.D294N	KIAA1257_ENST00000511438.1_Missense_Mutation_p.D294N|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D182N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	294										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GTGGAAGAATCGTCCATTTTG	0.443000													18	21					0	0	0.008871	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366417	7366417	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7366417C>A	ENST00000311403.4	-	4	2223	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	ZBTB4_ENST00000380599.4_Silent_p.L628L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	628	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		cctcTCCGCTCAGCTCCCCAG	0.607000													6	7					0.00307968	0.00320441	0.003080	1	0
SHANK2	22941	broad.mit.edu	37	11	70332941	70332941	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:70332941G>T	ENST00000338508.4	-	32	3459	c.3460C>A	c.(3460-3462)Ccc>Acc	p.P1154T	SHANK2_ENST00000449833.2_Missense_Mutation_p.P558T|SHANK2_ENST00000423696.2_Missense_Mutation_p.P774T|SHANK2_ENST00000409161.1_Missense_Mutation_p.P557T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	774					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGTTTTCGGGCTCCCTGGGC	0.677000													34	49					2.20262e-25	3.34888e-25	0.013726	1	0
R3HDM1	23518	broad.mit.edu	37	2	136467633	136467633	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:136467633A>G	ENST00000264160.4	+	22	2833	c.2463A>G	c.(2461-2463)ggA>ggG	p.G821G	R3HDM1_ENST00000329971.3_Silent_p.G692G|R3HDM1_ENST00000409606.1_Silent_p.G822G|R3HDM1_ENST00000409478.1_Silent_p.G693G|R3HDM1_ENST00000410054.1_Silent_p.G766G	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	821							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTCAGCTGGACCACCACCGC	0.443000											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	73					0	0	0.007835	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140257259G>T	ENST00000398631.2	+	1	2202	c.2202G>T	c.(2200-2202)ccG>ccT	p.P734P	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682000													13	2					4.36969e-10	5.37198e-10	0.001855	1	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607338	26607338	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:26607338A>G	ENST00000270792.5	+	2	1111	c.131A>G	c.(130-132)aAc>aGc	p.N44S	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.N44S	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamic acid-rich protein like 3	44	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGACAACGCCCTGAGG	0.617000													18	10					0	0	0.007413	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852064	38852064	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:38852064C>T	ENST00000310803.5	-	2	355	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	RASGRP1_ENST00000561180.1_Missense_Mutation_p.A111T|RASGRP1_ENST00000539159.1_Missense_Mutation_p.A12T|RASGRP1_ENST00000450598.2_Missense_Mutation_p.A60T|RASGRP1_ENST00000558164.1_Missense_Mutation_p.A60T|RASGRP1_ENST00000559830.1_Missense_Mutation_p.A60T	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	60	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCCAGGCTGGCTCCTTTGGCT	0.502000													11	34					0	0	0.001855	0	0
PTPRM	5797	broad.mit.edu	37	18	8113617	8113617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:8113617G>T	ENST00000332175.8	+	12	3027	c.1990G>T	c.(1990-1992)Gaa>Taa	p.E664*	PTPRM_ENST00000444013.1_Nonsense_Mutation_p.E451*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.E664*|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.E602*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.E664*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	664	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTTGCTGCAGAATTTCCTGC	0.428000													125	37					2.60151e-83	4.30694e-83	0.014410	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720611	140720611	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140720611G>T	ENST00000394576.2	+	1	2073	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCACTCTGTACCTGGTGG	0.677000													84	53					1.52804e-57	2.50746e-57	0.014410	1	0
CACNG7	59284	broad.mit.edu	37	19	54418659	54418659	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:54418659C>A	ENST00000391767.1	+	4	536	c.324C>A	c.(322-324)ctC>ctA	p.L108L	CACNG7_ENST00000222212.2_Silent_p.L108L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.L108L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	108					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTCAGCCTCTTCCTCGTGT	0.607000													22	32					1.85244e-09	2.24767e-09	0.003330	1	0
C1QTNF4	114900	broad.mit.edu	37	11	47611622	47611622	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:47611622C>T	ENST00000302514.3	-	2	1257	c.741G>A	c.(739-741)ctG>ctA	p.L247L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	247	C1q 2.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGTTCTTCATCAGCTTAACCG	0.677000													11	20					0	0	0.010729	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544345	89544345	+	RNA	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:89544345G>T	ENST00000468494.1	-	0	308																											TGAAATCAGTGCCTGACCCAC	0.537000													60	133					1.12115e-39	1.80013e-39	0.014410	1	0
MTRR	4552	broad.mit.edu	37	5	7897181	7897181	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:7897181A>G	ENST00000264668.2	+	14	1884	c.1854A>G	c.(1852-1854)aaA>aaG	p.K618K	MTRR_ENST00000440940.2_Silent_p.K591K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	618					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATTTCAGAAAAGAGCTCAGAC	0.388000													15	20					0	0	0.004007	0	0
TOP2A	7153	broad.mit.edu	37	17	38564238	38564238	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:38564238C>A	ENST00000423485.1	-	12	1639	c.1481G>T	c.(1480-1482)cGa>cTa	p.R494L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	494					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGAAGCTTCTCGAACATTGAG	0.373000													36	68					1.59932e-28	2.47198e-28	0.007835	1	0
KLHL4	56062	broad.mit.edu	37	X	86919890	86919890	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:86919890G>A	ENST00000373119.4	+	10	2197	c.2052G>A	c.(2050-2052)ttG>ttA	p.L684L	KLHL4_ENST00000373114.4_Silent_p.L684L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	684						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATACTTATTTGAACACAGTTG	0.383000													23	18					0	0	0.006320	0	0
LYN	4067	broad.mit.edu	37	8	56879420	56879420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:56879420G>T	ENST00000520220.2	+	9	1148	c.874G>T	c.(874-876)Gag>Tag	p.E292*	LYN_ENST00000519728.1_Nonsense_Mutation_p.E313*|LYN_ENST00000420292.1_3'UTR	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	313	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CACCAGGGAGGAGCCCATTTA	0.512000													15	57					1.5739e-10	1.95752e-10	0.004007	1	0
PRX	57716	broad.mit.edu	37	19	40909731	40909731	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:40909731C>G	ENST00000291825.7	-	5	334	c.66G>C	c.(64-66)gaG>gaC	p.E22D	PRX_ENST00000324001.7_Missense_Mutation_p.E22D	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	22	PDZ.				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)			GCGCCTCCGTCTCCACGATAA	0.692000													6	15					0	0	0.001168	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67068516	67068516	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:67068516G>T	ENST00000447274.2	+	11	2043	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L	ANKRD13D_ENST00000514166.1_Missense_Mutation_p.V290L|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.V290L|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.V377L|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.V27L			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	290										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGTGACCAGGTGACCCCCAT	0.607000													16	29					3.52763e-06	3.92838e-06	0.004990	1	0
IRF7	3665	broad.mit.edu	37	11	613308	613308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:613308C>T	ENST00000397566.1	-	7	1583	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	IRF7_ENST00000525445.1_Missense_Mutation_p.E273K|IRF7_ENST00000397562.3_Missense_Mutation_p.E86K|IRF7_ENST00000397570.1_Missense_Mutation_p.E350K|IRF7_ENST00000397574.2_Missense_Mutation_p.E379K|IRF7_ENST00000330243.5_Missense_Mutation_p.E392K|IRF7_ENST00000348655.6_Missense_Mutation_p.E350K	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	379					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCCCACCTCCCAGTACACC	0.677000													13	32					0	0	0.001855	0	0
RXRA	6256	broad.mit.edu	37	9	137293648	137293648	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:137293648G>T	ENST00000481739.1	+	2	251	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	67	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCCTTTCTCGGTCATCAGCTC	0.697000													124	40					4.56963e-79	7.53179e-79	0.014410	1	0
MAP2K3	5606	broad.mit.edu	37	17	21205550	21205550	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:21205550C>A	ENST00000342679.4	+	6	744	c.495C>A	c.(493-495)atC>atA	p.I165I	MAP2K3_ENST00000361818.5_Silent_p.I136I|MAP2K3_ENST00000316920.6_Silent_p.I136I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	165	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAGAGGACATCCTTGGGGAGA	0.582000													16	52					6.49762e-13	8.53744e-13	0.006122	1	0
LMLN	89782	broad.mit.edu	37	3	197707351	197707351	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:197707351G>A	ENST00000330198.4	+	6	726	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	LMLN_ENST00000420910.2_Missense_Mutation_p.C235Y|LMLN_ENST00000332636.5_Missense_Mutation_p.C183Y|LMLN_ENST00000482695.1_Missense_Mutation_p.C183Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	235					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCAGCCTATTGTCAGCAGGAA	0.433000													13	277					0	0	0.004007	0	0
TARS	6897	broad.mit.edu	37	5	33461070	33461070	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:33461070G>A	ENST00000265112.3	+	12	1625	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	TARS_ENST00000502553.1_Silent_p.G438G|TARS_ENST00000541634.1_Silent_p.G334G|TARS_ENST00000414361.2_Silent_p.G317G|TARS_ENST00000455217.2_Silent_p.G471G	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	438					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTGATTTTGGGGTACTTCATA	0.502000													18	48					0	0	0.006122	0	0
PDHA2	5161	broad.mit.edu	37	4	96762223	96762223	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:96762223G>A	ENST00000295266.4	+	1	985	c.922G>A	c.(922-924)Gta>Ata	p.V308I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	308					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTCAGGAAGTAAGAAGTAA	0.438000													38	22					0	0	0.005524	0	0
TRIM51	84767	broad.mit.edu	37	11	55658943	55658943	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55658943G>T	ENST00000449290.2	+	7	1286	c.1194G>T	c.(1192-1194)gtG>gtT	p.V398V	TRIM51_ENST00000244891.3_Silent_p.V255V	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	398	B30.2/SPRY.					intracellular	zinc ion binding										CCCCACTTGTGGTGCAATATG	0.448000													24	41					7.26314e-15	9.78488e-15	0.007291	1	0
FOXB2	442425	broad.mit.edu	37	9	79634859	79634859	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:79634859T>A	ENST00000376708.1	+	1	289	c.289T>A	c.(289-291)Ttc>Atc	p.F97I		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	97					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CGGGGACATGTTCGAGAACGG	0.652000													26	35					0	0	0.004656	0	0
C1orf110	339512	broad.mit.edu	37	1	162824618	162824618	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:162824618G>A	ENST00000367910.1	-	4	966	c.846C>T	c.(844-846)tcC>tcT	p.S282S	C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	282										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TGGATGATGAGGATTCCCCAT	0.473000													50	71					0	0	0.014410	0	0
ZNF32	7580	broad.mit.edu	37	10	44140211	44140211	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:44140211C>T	ENST00000395797.1	-	3	297	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32_ENST00000374433.2_Missense_Mutation_p.E37K|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CCTGTAGCCTCAGAGTGGTCA	0.418000													14	90					0	0	0.002450	0	0
DUPD1	338599	broad.mit.edu	37	10	76803730	76803730	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:76803730C>T	ENST00000338487.5	-	2	245	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	82	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCAGCACGTGCGTGAACCCCG	0.711000													13	13					0	0	0.001855	0	0
GRID1	2894	broad.mit.edu	37	10	87614373	87614373	+	Splice_Site	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:87614373C>A	ENST00000327946.7	-	8	1199		c.e8-1			NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1							cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGATGTGGCCCTGCAGAAGAG	0.498000										Multiple Myeloma(13;0.14)			23	9					5.35356e-11	6.7258e-11	0.002780	1	0
KMT2C	58508	broad.mit.edu	37	7	151877135	151877135	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:151877135T>C	ENST00000355193.2	-	37	7444	c.7226A>G	c.(7225-7227)cAg>cGg	p.Q2409R	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q2409R					lysine (K)-specific methyltransferase 2C																		GGGTGAGTCCTGTGACCCCTT	0.517000													99	190					0	0	0.014410	0	0
PARP3	10039	broad.mit.edu	37	3	51982442	51982442	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:51982442C>T	ENST00000417220.2	+	12	2036	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000398755.3_Silent_p.L523L|PARP3_ENST00000431474.1_Silent_p.L516L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	516	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGAGTACCTCATCTACCAGG	0.642000													38	15					0	0	0.009718	0	0
RYR2	6262	broad.mit.edu	37	1	237843850	237843850	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237843850C>G	ENST00000366574.2	+	62	9307	c.8990C>G	c.(8989-8991)tCc>tGc	p.S2997C	RYR2_ENST00000542537.1_Missense_Mutation_p.S2981C|RYR2_ENST00000360064.6_Missense_Mutation_p.S2995C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2997	Calmodulin-binding (Potential).|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGACATGCTTCCAACAAAGAG	0.388000													9	8					0	0	0.006214	0	0
FBXO34	55030	broad.mit.edu	37	14	55818402	55818402	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:55818402G>A	ENST00000313833.4	+	2	1539	c.1294G>A	c.(1294-1296)Gtt>Att	p.V432I	FBXO34_ENST00000440021.1_Missense_Mutation_p.V432I	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	432			V -> A (in dbSNP:rs35070799).							breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CACAGATGCTGTTGATTGTAT	0.418000													16	282					0	0	0.007413	0	0
EXOC1	55763	broad.mit.edu	37	4	56744196	56744196	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:56744196G>A	ENST00000381295.2	+	9	1536	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	EXOC1_ENST00000349598.6_Silent_p.K396K|EXOC1_ENST00000346134.7_Silent_p.K396K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	396					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGTGGCTAAAGAGTACAGATT	0.383000													46	31					0	0	0.014410	0	0
MYLK2	85366	broad.mit.edu	37	20	30408307	30408307	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:30408307C>T	ENST00000375994.2	+	2	704	c.431C>T	c.(430-432)cCt>cTt	p.P144L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P144L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	144			P -> A (in dbSNP:rs34396614).		cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGGGCTCACCTGCCTTTCTG	0.637000													39	40					0	0	0.006999	0	0
KCNT2	343450	broad.mit.edu	37	1	196227558	196227558	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:196227558G>T	ENST00000367433.5	-	25	3006	c.2905C>A	c.(2905-2907)Cgc>Agc	p.R969S	KCNT2_ENST00000367431.4_Missense_Mutation_p.R927S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.R993S|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	993						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGGTTGCTGCGGTGGTGCCCT	0.468000													40	79					6.48837e-15	8.75694e-15	0.010771	1	0
TP53	7157	broad.mit.edu	37	17	7577569	7577569	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7577569A>T	ENST00000420246.2	-	7	844	c.712T>A	c.(712-714)Tgt>Agt	p.C238S	TP53_ENST00000269305.4_Missense_Mutation_p.C238S|TP53_ENST00000413465.2_Missense_Mutation_p.C238S|TP53_ENST00000445888.2_Missense_Mutation_p.C238S|TP53_ENST00000455263.2_Missense_Mutation_p.C238S|TP53_ENST00000359597.4_Missense_Mutation_p.C238S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAACTGTTACACATGTAGTTG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	54					0	0	0.003954	0	0
STAB2	55576	broad.mit.edu	37	12	104152959	104152959	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:104152959T>C	ENST00000388887.2	+	65	7360	c.7156T>C	c.(7156-7158)Ttt>Ctt	p.F2386L	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2386	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTCAGCATGTTTTTCTACAA	0.507000													58	51					0	0	0.014410	0	0
ECEL1	9427	broad.mit.edu	37	2	233349956	233349956	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:233349956G>T	ENST00000304546.1	-	3	1018	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	ECEL1_ENST00000409941.1_Missense_Mutation_p.L270M	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	270					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTCTCTGGCAGGGTGAGCCCA	0.632000													16	5					2.21704e-12	2.87751e-12	0.002780	1	0
OR8J1	219477	broad.mit.edu	37	11	56128446	56128446	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:56128446G>A	ENST00000303039.3	+	1	756	c.724G>A	c.(724-726)Gct>Act	p.A242T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTCTACCTGTGCTTCACATAT	0.348000													49	79					0	0	0.014410	0	0
DARC	2532	broad.mit.edu	37	1	159175930	159175930	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:159175930C>A	ENST00000537147.1	+	3	1544	c.701C>A	c.(700-702)gCa>gAa	p.A234E	DARC_ENST00000368121.2_Missense_Mutation_p.A236E|DARC_ENST00000368122.2_Missense_Mutation_p.A234E			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	234					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTGAAGAAGGCATTGGGTATG	0.542000													26	62					6.12954e-19	8.64868e-19	0.004656	1	0
PROM2	150696	broad.mit.edu	37	2	95952298	95952298	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:95952298C>A	ENST00000317620.9	+	17	2152	c.2019C>A	c.(2017-2019)gtC>gtA	p.V673V	PROM2_ENST00000403131.2_Silent_p.V673V|PROM2_ENST00000317668.4_Silent_p.V673V|PROM2_ENST00000542147.1_Silent_p.V624V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	673						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGAGAAGGTCGTCCCCCAGC	0.612000													34	44					2.87052e-16	3.93113e-16	0.005524	1	0
VRTN	55237	broad.mit.edu	37	14	74825284	74825284	+	Missense_Mutation	SNP	G	G	A	rs45447993	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:74825284G>A	ENST00000256362.4	+	2	2039	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	600					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGAAGATGTAGAGGGAGGGCC	0.662000													52	20					0	0	0.014410	0	0
IMMP1L	196294	broad.mit.edu	37	11	31484808	31484808	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:31484808G>A	ENST00000278200.1	-	3	211	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	IMMP1L_ENST00000526776.1_Silent_p.L6L|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000532287.1_Silent_p.L6L	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	6					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					GTTTTCCCCAGAACACCACGA	0.363000													6	79					0	0	0.001984	0	0
DNAH2	146754	broad.mit.edu	37	17	7662908	7662908	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:7662908C>G	ENST00000572933.1	+	16	4077	c.2617C>G	c.(2617-2619)Ctg>Gtg	p.L873V	DNAH2_ENST00000389173.2_Missense_Mutation_p.L873V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	873	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAAGAATGATCTGCAAGGAAG	0.448000													10	98					0	0	0.008291	0	0
HDAC6	10013	broad.mit.edu	37	X	48681696	48681696	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48681696G>C	ENST00000334136.5	+	25	3065	c.2887G>C	c.(2887-2889)Gac>Cac	p.D963H	HDAC6_ENST00000444343.2_Missense_Mutation_p.D977H|HDAC6_ENST00000376619.2_Missense_Mutation_p.D963H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	963					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGCCATTCTGGACCAGACCAC	0.647000													3	14					0	0	0.004672	0	0
KIF1A	547	broad.mit.edu	37	2	241661290	241661290	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:241661290C>T	ENST00000498729.2	-	44	4923	c.4677G>A	c.(4675-4677)ctG>ctA	p.L1559L	KIF1A_ENST00000320389.7_Silent_p.L1458L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1458					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)		TGTGCGTGAGCAGGCGCAAGC	0.657000													6	2					0	0	0.001984	0	0
NBAS	51594	broad.mit.edu	37	2	15415825	15415825	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:15415825T>A	ENST00000281513.5	-	44	5532	c.5507A>T	c.(5506-5508)aAg>aTg	p.K1836M	NBAS_ENST00000441750.1_Missense_Mutation_p.K1716M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1836										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGTCCATCCTTTTCAGGGAT	0.433000													17	54					0	0	0.006122	0	0
C16orf93	90835	broad.mit.edu	37	16	30770423	30770423	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30770423C>T	ENST00000543610.1	-	8	1689		c.e8-1		C16orf93_ENST00000541260.1_Splice_Site|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93											breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCTTCTTTCTCTGCAAACCAG	0.587000													148	139					0	0	0.014410	0	0
RBM34	23029	broad.mit.edu	37	1	235324273	235324273	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:235324273G>A	ENST00000408888.3	-	2	393	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	RBM34_ENST00000366606.3_Missense_Mutation_p.R50W			P42696	RBM34_HUMAN	RNA binding motif protein 34	55						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GACGCCAGCCGACCGGTGCCA	0.587000													16	61					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179613353	179613353	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179613353C>T	ENST00000360870.5	-	46	13996	c.13774G>A	c.(13774-13776)Gaa>Aaa	p.E4592K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	717	Ig-like 26.						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)			CTATCTAATTCTTGGAATTTC	0.318000													11	234					0	0	0.013537	0	0
ZP1	22917	broad.mit.edu	37	11	60637115	60637115	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:60637115C>A	ENST00000278853.5	+	3	424	c.424C>A	c.(424-426)Cgg>Agg	p.R142R		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	142					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCCTCCCGGACTCTGGA	0.597000													20	27					3.08376e-08	3.62366e-08	0.003330	1	0
DSCAM	1826	broad.mit.edu	37	21	41539196	41539196	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:41539196C>A	ENST00000400454.1	-	16	3444	c.2967G>T	c.(2965-2967)caG>caT	p.Q989H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	989	Fibronectin type-III 2.				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)				GGTGAACTTCCTGAGGTGGAC	0.532000													18	42					7.45023e-12	9.58621e-12	0.010504	1	0
RUNX1T1	862	broad.mit.edu	37	8	93027017	93027017	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:93027017G>A	ENST00000523629.1	-	4	712	c.258C>T	c.(256-258)gcC>gcT	p.A86A	RUNX1T1_ENST00000265814.3_Silent_p.A86A|RUNX1T1_ENST00000360348.2_Silent_p.A49A|RUNX1T1_ENST00000396218.1_Silent_p.A59A|RUNX1T1_ENST00000436581.2_Silent_p.A97A|RUNX1T1_ENST00000520724.1_Silent_p.A49A|RUNX1T1_ENST00000422361.2_Silent_p.A49A|RUNX1T1_ENST00000518844.1_Silent_p.A59A|RUNX1T1_ENST00000521553.1_Silent_p.A49A	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	86					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CGCCATTCAAGGCTGTAGGAG	0.512000													8	51					0	0	0.006214	0	0
ALX4	60529	broad.mit.edu	37	11	44286554	44286554	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:44286554C>T	ENST00000329255.3	-	4	1189	c.1086G>A	c.(1084-1086)acG>acA	p.T362T		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	362					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCCCATGTGCGTCTGGCCCA	0.677000													12	41					0	0	0.013537	0	0
USP27X	389856	broad.mit.edu	37	X	49646067	49646067	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49646067G>A	ENST00000508866.2	+	1	1598	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q		NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked	386					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)	7						AGCTTCATCCGGCACCACAAG	0.458000													15	18					0	0	0.010504	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87126074	87126074	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:87126074C>A	ENST00000285393.3	+	2	409	c.267C>A	c.(265-267)tcC>tcA	p.S89S	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	89					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGAATCATTCCCTGGAGCCCC	0.423000													25	121					4.59853e-10	5.64399e-10	0.005443	1	0
DNAH11	8701	broad.mit.edu	37	7	21747362	21747362	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:21747362C>T	ENST00000328843.6	+	41	6644	c.6613C>T	c.(6613-6615)Ccg>Tcg	p.P2205S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2198S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2205	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAACAGAAGCCGGTTTGGAA	0.383000									Kartagener syndrome				13	25					0	0	0.003163	0	0
PEX1	5189	broad.mit.edu	37	7	92143172	92143172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:92143172C>G	ENST00000248633.4	-	6	1444	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	PEX1_ENST00000428214.1_Missense_Mutation_p.R450T|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R128T	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	450					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TAAATTCTCTCTAGGTTGTAA	0.328000													41	70					0	0	0.007835	0	0
SGCZ	137868	broad.mit.edu	37	8	13959908	13959908	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:13959908G>T	ENST00000382080.1	-	7	1436	c.721C>A	c.(721-723)Cat>Aat	p.H241N	SGCZ_ENST00000421524.2_Missense_Mutation_p.H194N	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	228					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GATTGCAGATGGAGCTCCTTC	0.512000													24	63					1.10513e-12	1.44951e-12	0.014323	1	0
ACHE	43	broad.mit.edu	37	7	100490790	100490790	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100490790A>G	ENST00000302913.4	-	2	1202	c.1064T>C	c.(1063-1065)cTg>cCg	p.L355P	ACHE_ENST00000428317.1_Missense_Mutation_p.L355P|ACHE_ENST00000419336.2_Missense_Mutation_p.L355P|ACHE_ENST00000412389.1_Missense_Mutation_p.L355P|ACHE_ENST00000411582.1_Missense_Mutation_p.L355P|ACHE_ENST00000241069.5_Missense_Mutation_p.L355P	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	355					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AGTTACCTGCAGGCCGTGGAA	0.622000													7	19					0	0	0.001984	0	0
CEP350	9857	broad.mit.edu	37	1	180006140	180006140	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:180006140G>T	ENST00000367607.3	+	17	4444	c.4026G>T	c.(4024-4026)tcG>tcT	p.S1342S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1342						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGAGGAGTCGGTGCGCCAAC	0.468000													7	7					5.4927e-09	6.55779e-09	0.004482	1	0
ZNF346	23567	broad.mit.edu	37	5	176489129	176489129	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:176489129C>T	ENST00000503039.1	+	7	853	c.849C>T	c.(847-849)gtC>gtT	p.V283V	ZNF346_ENST00000506693.1_Silent_p.V160V|ZNF346_ENST00000503425.1_Silent_p.V226V|ZNF346_ENST00000512315.1_Silent_p.V82V|ZNF346_ENST00000358149.3_Silent_p.V258V|ZNF346_ENST00000261948.4_Silent_p.V283V|ZNF346_ENST00000511834.1_Silent_p.V274V			Q9UL40	ZN346_HUMAN	zinc finger protein 346	258						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTCATGTCAGCGGCTTCA	0.423000													66	48					0	0	0.014410	0	0
PXN	5829	broad.mit.edu	37	12	120652757	120652757	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:120652757G>T	ENST00000397506.3	-	6	1638	c.585C>A	c.(583-585)gtC>gtA	p.V195V	PXN_ENST00000458477.2_Silent_p.V216V|PXN_ENST00000267257.7_Silent_p.V397V|PXN_ENST00000228307.7_Silent_p.V383V|PXN_ENST00000536957.1_Silent_p.V381V|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.V349V			P49023	PAXI_HUMAN	paxillin	383					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTGGGTGCAGACGAAGTGCT	0.632000													4	23					0.00024832	0.000265421	0.009096	1	0
CROCC	9696	broad.mit.edu	37	1	17295649	17295649	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:17295649G>T	ENST00000375541.5	+	32	5184	c.5115G>T	c.(5113-5115)ctG>ctT	p.L1705L		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1705					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCCTGCAGCTGACCGTGGAGC	0.667000													3	11					0.004672	0.00481416	0.004672	1	0
CCDC22	28952	broad.mit.edu	37	X	49099871	49099871	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49099871C>T	ENST00000376227.3	+	6	827	c.657C>T	c.(655-657)ggC>ggT	p.G219G	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	219										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGCAGACGGGCCGGGACCGGC	0.682000													7	13					0	0	0.003080	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42117604	42117604	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:42117604C>T	ENST00000457542.2	+	31	4783	c.4497C>T	c.(4495-4497)gcC>gcT	p.A1499A	MAPKBP1_ENST00000514566.1_Silent_p.A1222A|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000221214.6_Silent_p.A1382A|MAPKBP1_ENST00000456763.2_Silent_p.A1505A|MAPKBP1_ENST00000260357.7_Silent_p.A1338A	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1505										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGCTTCGAGCCGTGGAACGGC	0.607000													13	22					0	0	0.003163	0	0
PITPNM2	57605	broad.mit.edu	37	12	123485364	123485364	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:123485364G>A	ENST00000280562.5	-	9	1390	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PITPNM2_ENST00000546049.1_Silent_p.F433F|PITPNM2_ENST00000542749.1_Silent_p.F395F|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Silent_p.F116F|PITPNM2_ENST00000320201.4_Silent_p.F395F			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	395					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCCACCCTGAACTCAGGGG	0.652000													4	26					0	0	0.009096	0	0
AKAP4	8852	broad.mit.edu	37	X	49958928	49958928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49958928C>A	ENST00000376056.2	-	5	559	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E137*|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E146*|AKAP4_ENST00000376058.2_Nonsense_Mutation_p.E137*			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	146					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGTGATATTCGCCCTCTGTG	0.448000													55	46					5.39261e-20	7.77078e-20	0.014410	1	0
FOXP3	50943	broad.mit.edu	37	X	49108103	49108103	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49108103C>T	ENST00000557224.1	-	9	1062	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	FOXP3_ENST00000376207.4_Intron|FOXP3_ENST00000376197.1_Missense_Mutation_p.V340M|FOXP3_ENST00000455775.2_Intron|FOXP3_ENST00000518685.1_Intron|FOXP3_ENST00000376199.2_Intron			Q9BZS1	FOXP3_HUMAN	forkhead box P3	390					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					ATCCCAGTCACCGCCACCTCA	0.577000													9	18					0	0	0.004482	0	0
LAIR2	3904	broad.mit.edu	37	19	55019222	55019222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55019222G>T	ENST00000301202.2	+	3	309	c.187G>T	c.(187-189)Gag>Tag	p.E63*	LAIR2_ENST00000351841.2_Nonsense_Mutation_p.E63*	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	63	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CCTGGAGAGGGAGGATAGAGC	0.527000													51	76					2.24722e-20	3.25083e-20	0.014410	1	0
SP140L	93349	broad.mit.edu	37	2	231248247	231248247	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:231248247G>T	ENST00000243810.6	+	8	660	c.660G>T	c.(658-660)tgG>tgT	p.W220C	SP140L_ENST00000396563.4_Missense_Mutation_p.W220C|SP140L_ENST00000415673.2_Missense_Mutation_p.W220C|SP140L_ENST00000444636.1_Missense_Mutation_p.W220C			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	220						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGCATGGCTGGAGCAGAATGG	0.358000													8	15					2.17888e-05	2.36973e-05	0.006214	1	0
KIF12	113220	broad.mit.edu	37	9	116858353	116858353	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:116858353G>C	ENST00000374118.3	-	6	696	c.459C>G	c.(457-459)atC>atG	p.I153M	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	286	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCTTCGGTTGATGCTGTTAG	0.617000													39	68					0	0	0.009718	0	0
CIT	11113	broad.mit.edu	37	12	120173008	120173008	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:120173008C>A	ENST00000392521.2	-	25	3168	c.3113G>T	c.(3112-3114)cGg>cTg	p.R1038L	CIT_ENST00000261833.7_Missense_Mutation_p.R996L|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	996					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGTGATCTCCCGGCGGAGATG	0.498000													31	88					4.3181e-19	6.13928e-19	0.013726	1	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230585	29230585	+	RNA	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:29230585A>T	ENST00000441381.1	+	0	79																											ACCTATATCTAACAGTCCCAT	0.438000													29	19					0	0	0.008361	0	0
NCOA6	23054	broad.mit.edu	37	20	33337564	33337564	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:33337564C>A	ENST00000374796.2	-	10	5004	c.2434G>T	c.(2434-2436)Gtc>Ttc	p.V812F	NCOA6_ENST00000359003.2_Missense_Mutation_p.V812F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	812	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATAAACTGACATCGTTATTT	0.542000													48	71					1.56793e-16	2.15517e-16	0.014410	1	0
DNMT3A	1788	broad.mit.edu	37	2	25464448	25464448	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:25464448T>A	ENST00000264709.3	-	17	2402	c.2065A>T	c.(2065-2067)Agc>Tgc	p.S689C	DNMT3A_ENST00000380746.4_Missense_Mutation_p.S500C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.S689C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.S466C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	689					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTGACGCTGCGGACGTCC	0.612000			"""Mis, F, N, S"""		AML								9	43					0	0	0.006214	0	0
DPP10	57628	broad.mit.edu	37	2	116598360	116598360	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:116598360C>G	ENST00000410059.1	+	25	2697	c.2217C>G	c.(2215-2217)atC>atG	p.I739M	DPP10_ENST00000393147.2_Missense_Mutation_p.I743M|DPP10_ENST00000409163.1_Missense_Mutation_p.I689M|DPP10_ENST00000310323.8_Missense_Mutation_p.I732M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	739					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGAATTAATCAAGCACCTAA	0.343000													37	52					0	0	0.008740	0	0
AP3B1	8546	broad.mit.edu	37	5	77385258	77385258	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:77385258G>T	ENST00000255194.6	-	22	2711	c.2536C>A	c.(2536-2538)Ctt>Att	p.L846I	AP3B1_ENST00000519295.1_Missense_Mutation_p.L797I	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	846					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAACCTTCAAGATCAGCCATC	0.393000									Hermansky-Pudlak syndrome				28	14					1.5548e-18	2.18552e-18	0.005443	1	0
CHAT	1103	broad.mit.edu	37	10	50863176	50863176	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:50863176C>T	ENST00000395562.2	+	13	1893	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	CHAT_ENST00000455728.2_Missense_Mutation_p.A439V|CHAT_ENST00000339797.1_Missense_Mutation_p.A439V|CHAT_ENST00000351556.3_Missense_Mutation_p.A439V|CHAT_ENST00000337653.2_Missense_Mutation_p.A557V|CHAT_ENST00000395559.2_Missense_Mutation_p.A439V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	557					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.A557V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TACGAGAGCGCGTCCATCCGC	0.547000													15	45					0	0	0.002450	0	0
PRSS1	5644	broad.mit.edu	37	7	142459743	142459743	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:142459743G>A	ENST00000486171.1	+	4	378	c.361G>A	c.(361-363)Gac>Aac	p.D121N	PRSS1_ENST00000311737.7_Missense_Mutation_p.D107N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	107	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGAACAATGACATCATGTT	0.552000													11	165					0	0	0.010729	0	0
SPATA17	128153	broad.mit.edu	37	1	217822275	217822275	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:217822275A>T	ENST00000366933.4	+	2	175	c.120A>T	c.(118-120)caA>caT	p.Q40H		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	40	IQ 1.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTAAAATCCAAAGCTGGTTTC	0.303000													25	60					0	0	0.010818	0	0
ECEL1	9427	broad.mit.edu	37	2	233349955	233349955	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:233349955A>T	ENST00000304546.1	-	3	1019	c.809T>A	c.(808-810)cTg>cAg	p.L270Q	ECEL1_ENST00000409941.1_Missense_Mutation_p.L270Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	270					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCTCTGGCAGGGTGAGCCC	0.632000													15	5					0	0	0.002780	0	0
SFMBT1	51460	broad.mit.edu	37	3	52945182	52945182	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:52945182C>A	ENST00000394752.3	-	17	2125	c.1743G>T	c.(1741-1743)aaG>aaT	p.K581N	SFMBT1_ENST00000394750.1_Missense_Mutation_p.K581N|SFMBT1_ENST00000358080.2_Missense_Mutation_p.K581N|SFMBT1_ENST00000296295.6_Missense_Mutation_p.K581N	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	581					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCCGATAACTCTTTCCTTTAT	0.388000													41	22					1.6237e-14	2.17956e-14	0.013114	1	0
DST	667	broad.mit.edu	37	6	56481471	56481471	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:56481471G>A	ENST00000370765.6	-	24	6901	c.6794C>T	c.(6793-6795)cCa>cTa	p.P2265L	DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1607					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCAATTTCTGGAGGAACACG	0.438000													26	93					0	0	0.005443	0	0
CACNA1E	777	broad.mit.edu	37	1	181690908	181690908	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:181690908G>A	ENST00000526775.1	+	16	2136	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	CACNA1E_ENST00000367567.4_Silent_p.E264E|CACNA1E_ENST00000357570.5_Silent_p.E608E|CACNA1E_ENST00000358338.5_Silent_p.E608E|CACNA1E_ENST00000367570.1_Silent_p.E657E|CACNA1E_ENST00000367573.2_Silent_p.E657E|CACNA1E_ENST00000360108.3_Silent_p.E657E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	657		Calcium ion selectivity and permeability (By similarity).			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGACGGGTGAGGACTGGAATG	0.542000													54	122					0	0	0.014410	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591844	125591844	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:125591844C>T	ENST00000504087.1	-	4	3625	c.2588G>A	c.(2587-2589)tGt>tAt	p.C863Y	ANKRD50_ENST00000515641.1_Missense_Mutation_p.C684Y	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	863										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCTTCACATATCAATCT	0.408000													63	29					0	0	0.014410	0	0
PTTG1IP	754	broad.mit.edu	37	21	46271460	46271460	+	Missense_Mutation	SNP	T	T	C	rs2236442	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:46271460T>C	ENST00000445724.2	-	3	325	c.251A>G	c.(250-252)gAg>gGg	p.E84G	PTTG1IP_ENST00000397887.3_3'UTR|PTTG1IP_ENST00000397886.3_3'UTR|PTTG1IP_ENST00000330938.3_3'UTR			P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	0	PSI.				protein import into nucleus	cytoplasm|integral to membrane|nucleus		p.E84G(1)		ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		AGCGTGCACCTCACAGGAAGC	0.557000													4	56					0	0	0.009096	0	0
USH2A	7399	broad.mit.edu	37	1	216258127	216258127	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:216258127G>T	ENST00000366943.2	-	25	5466	c.5080C>A	c.(5080-5082)Cag>Aag	p.Q1694K	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1694K|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1694	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)		TCAGAACTCTGCCAATCCAGA	0.433000										HNSCC(13;0.011)			54	88					3.4597e-24	5.22815e-24	0.014410	1	0
BRS3	680	broad.mit.edu	37	X	135574475	135574475	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135574475G>A	ENST00000370648.3	+	3	1369	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	381					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACAGATGTCTGAAATTAGTGT	0.542000													13	77					0	0	0.013537	0	0
MYO16	23026	broad.mit.edu	37	13	109793638	109793638	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:109793638C>A	ENST00000356711.2	+	32	5138	c.5012C>A	c.(5011-5013)cCc>cAc	p.P1671H	MYO16_ENST00000357550.2_Missense_Mutation_p.P1671H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1671	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCAGCAGCCCCCTGGACGAG	0.672000													6	4					8.12818e-05	8.7255e-05	0.001984	1	0
PIK3R2	5296	broad.mit.edu	37	19	18271316	18271316	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:18271316C>T	ENST00000593731.1	+	3	918	c.358C>T	c.(358-360)Cca>Tca	p.P120S	PIK3R2_ENST00000222254.7_Missense_Mutation_p.P120S			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	120	Rho-GAP.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GCAGTTCTCCCCACCTGATGT	0.602000													29	34					0	0	0.009535	0	0
WDR52	55779	broad.mit.edu	37	3	113099870	113099870	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:113099870T>C	ENST00000393845.2	-	16	1994	c.1928A>G	c.(1927-1929)tAt>tGt	p.Y643C	WDR52_ENST00000295868.2_Missense_Mutation_p.Y643C|WDR52_ENST00000475568.1_5'UTR	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	643										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCAAGAATATAGCCATTTTC	0.299000													30	47					0	0	0.010818	0	0
MED12L	116931	broad.mit.edu	37	3	151082807	151082807	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:151082807G>C	ENST00000474524.1	+	20	2931	c.2893G>C	c.(2893-2895)Gtg>Ctg	p.V965L	MED12L_ENST00000273432.4_Missense_Mutation_p.V825L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	965					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATATAATAACGTGATGCCTGC	0.363000													68	97					0	0	0.014410	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044350	90044350	+	RNA	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:90044350G>T	ENST00000462693.1	+	0	301																											CAGTGGCAGTGGGGCAGGGAC	0.512000													107	151					5.87034e-48	9.54892e-48	0.014410	1	0
CUL7	9820	broad.mit.edu	37	6	43020081	43020081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:43020081C>T	ENST00000535468.1	-	2	688	c.602G>A	c.(601-603)aGc>aAc	p.S201N	CUL7_ENST00000265348.3_Missense_Mutation_p.S149N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	149					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCTCAATGCTGGCATAGGC	0.557000													4	35					0	0	0.009096	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543234	34543234	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:34543234G>T	ENST00000354181.3	-	11	1850	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	SLC12A6_ENST00000558667.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.P444H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.P453H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P438H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.P394H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.P265H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.P265H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.P402H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.P394H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	453					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCTCCCTTGGGTAGGTAATT	0.383000													28	53					2.48696e-23	3.73545e-23	0.003271	1	0
GLP2R	9340	broad.mit.edu	37	17	9792910	9792910	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:9792910C>A	ENST00000262441.5	+	13	2063	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	GLP2R_ENST00000574745.1_Missense_Mutation_p.P337H	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	517					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGCGCCCAGCCCCAACAGGAC	0.632000													24	29					1.10923e-09	1.35029e-09	0.002780	1	0
ATXN2	6311	broad.mit.edu	37	12	111923529	111923529	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:111923529G>A	ENST00000377617.3	-	17	3086	c.2925C>T	c.(2923-2925)agC>agT	p.S975S	ATXN2_ENST00000389153.4_Silent_p.S710S|ATXN2_ENST00000550104.1_Silent_p.S975S|ATXN2_ENST00000542287.2_Silent_p.S710S|ATXN2_ENST00000535949.1_Silent_p.S686S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	975	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCACGCCTGGGCTCACTGGGA	0.453000													16	56					0	0	0.007413	0	0
ZFAND6	54469	broad.mit.edu	37	15	80423525	80423525	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:80423525C>T	ENST00000261749.6	+	6	790	c.368C>T	c.(367-369)tCa>tTa	p.S123L	ZFAND6_ENST00000561060.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.S111L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559835.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000558688.1_Missense_Mutation_p.S123L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.S123L	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	123							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTGTTAGCTTCAGTATCAGAC	0.393000													9	94					0	0	0.006214	0	0
ISM2	145501	broad.mit.edu	37	14	77948965	77948965	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:77948965C>A	ENST00000393684.3	-	5	800	c.409G>T	c.(409-411)Gac>Tac	p.D137Y	ISM2_ENST00000429906.1_Missense_Mutation_p.D144Y|ISM2_ENST00000412904.1_Missense_Mutation_p.D144Y|ISM2_ENST00000342219.4_Missense_Mutation_p.D225Y|ISM2_ENST00000493585.1_Intron			Q6H9L7	ISM2_HUMAN	isthmin 2	225						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCCAACAGGTCTATCGACACC	0.612000													107	151					1.07149e-41	1.72411e-41	0.014410	1	0
ANK2	287	broad.mit.edu	37	4	114275560	114275560	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:114275560C>T	ENST00000357077.4	+	38	5839	c.5786C>T	c.(5785-5787)tCg>tTg	p.S1929L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1896L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1896	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S1929L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGCCAGTATCGCCTGGGAGA	0.522000													12	27					0	0	0.003163	0	0
MKRN3	7681	broad.mit.edu	37	15	23811411	23811411	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:23811411C>A	ENST00000314520.3	+	1	958	c.482C>A	c.(481-483)cCg>cAg	p.P161Q	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	161						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAGCCCCCCCGGCTGCATCC	0.642000													17	24					1.15088e-07	1.31706e-07	0.004007	1	0
LRAT	9227	broad.mit.edu	37	4	155665906	155665906	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:155665906G>A	ENST00000336356.3	+	2	681	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	LRAT_ENST00000507827.1_Missense_Mutation_p.R143Q	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	143					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GAGGTGGCGCGGAGGGCTGAA	0.582000													33	19					0	0	0.003271	0	0
FIGN	55137	broad.mit.edu	37	2	164466811	164466811	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:164466811C>A	ENST00000333129.3	-	3	1845	c.1531G>T	c.(1531-1533)Gcg>Tcg	p.A511S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	511						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCACTGAACGCGTCTGACCTC	0.532000													54	60					9.10829e-22	1.3437e-21	0.014410	1	0
SGCZ	137868	broad.mit.edu	37	8	13959909	13959909	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:13959909G>T	ENST00000382080.1	-	7	1435	c.720C>A	c.(718-720)ctC>ctA	p.L240L	SGCZ_ENST00000421524.2_Silent_p.L193L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	227					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTGCAGATGGAGCTCCTTCC	0.517000													23	62					5.26018e-13	6.93599e-13	0.012319	1	0
PCDH20	64881	broad.mit.edu	37	13	61985813	61985813	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:61985813C>T	ENST00000409186.1	-	5	4524	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E807K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	780	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AATGCCTCTTCCAAAGTAATG	0.488000													81	30					0	0	0.014410	0	0
LRP5	4041	broad.mit.edu	37	11	68181317	68181317	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:68181317C>T	ENST00000294304.7	+	12	2770	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	888	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGACTTCGTGATGGACA	0.592000													27	33					0	0	0.006320	0	0
TFEB	7942	broad.mit.edu	37	6	41653831	41653831	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:41653831G>T	ENST00000230323.4	-	9	1249	c.948C>A	c.(946-948)atC>atA	p.I316I	TFEB_ENST00000403298.4_Silent_p.I316I|TFEB_ENST00000420312.1_Silent_p.I231I|TFEB_ENST00000358871.2_Silent_p.I330I|TFEB_ENST00000373033.1_Silent_p.I316I	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	316	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACCAGACCTGGATACGGAGCC	0.537000			T	ALPHA	renal (childhood epithelioid)								15	61					3.41278e-10	4.20252e-10	0.004990	1	0
SYNE1	23345	broad.mit.edu	37	6	152652521	152652521	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:152652521G>T	ENST00000367255.5	-	78	13900	c.13299C>A	c.(13297-13299)caC>caA	p.H4433Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.H4362Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H4433Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.H4298Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.H4362Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4433					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACAATTCACGTGGCTTTGTG	0.493000										HNSCC(10;0.0054)			35	29					9.80977e-26	1.4976e-25	0.004289	1	0
RNF133	168433	broad.mit.edu	37	7	122338457	122338457	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:122338457G>A	ENST00000340112.2	-	1	753	c.516C>T	c.(514-516)ctC>ctT	p.L172L	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	172						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CGGCTGTAATGAGAACTCCCT	0.398000													51	96					0	0	0.014410	0	0
RAB19	401409	broad.mit.edu	37	7	140125809	140125809	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:140125809C>T	ENST00000275874.5	+	5	852	c.654C>T	c.(652-654)gtC>gtT	p.V218V	RAB19_ENST00000356407.3_Silent_p.V171V|RAB19_ENST00000537763.1_Silent_p.V171V			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	171					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TAGAAGAAGTCTTCGTGCTCA	0.582000													31	92					0	0	0.010818	0	0
FRMPD4	9758	broad.mit.edu	37	X	12632926	12632926	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:12632926G>A	ENST00000380682.1	+	4	854	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	116	PDZ.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGCTGATCCCGGGAGATCAGA	0.517000													21	73					0	0	0.003330	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397201	5397201	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:5397201C>A	ENST00000341928.2	-	18	3037	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E677D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E677D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E899D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E730D|EPB41L3_ENST00000542146.1_Missense_Mutation_p.E204D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E196D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	899	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTTTAGCCCCCTCCGTCAAGG	0.602000													175	53					2.60769e-80	4.3076e-80	0.014410	1	0
TGFB1	7040	broad.mit.edu	37	19	41854358	41854358	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:41854358T>C	ENST00000221930.5	-	2	1224	c.358A>G	c.(358-360)Atc>Gtc	p.I120V		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	120					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTGTCATAGATTTCTAGCAGG	0.527000													45	68					0	0	0.014410	0	0
COG5	10466	broad.mit.edu	37	7	107198559	107198559	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:107198559C>T	ENST00000393603.2	-	2	460	c.187_splice	c.e2-1	p.G63_splice	COG5_ENST00000347053.3_Splice_Site_p.G63_splice|COG5_ENST00000297135.3_Splice_Site_p.G63_splice	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	63					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACTATAACACCCTGGATTGG	0.308000													10	33					0	0	0.010729	0	0
C17orf47	284083	broad.mit.edu	37	17	56620307	56620307	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:56620307G>T	ENST00000321691.3	-	1	1422	c.1241C>A	c.(1240-1242)cCt>cAt	p.P414H	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	414										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGACCGAGGAGGCAAGGGCCT	0.527000													24	79					4.7796e-09	5.73398e-09	0.004656	1	0
NCOA6	23054	broad.mit.edu	37	20	33345322	33345322	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:33345322C>A	ENST00000374796.2	-	8	3799	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	NCOA6_ENST00000359003.2_Missense_Mutation_p.G410V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	410	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTAGAGGGCCCTCCCTGCAA	0.597000													23	51					2.27731e-05	2.46957e-05	0.012319	1	0
URGCP	55665	broad.mit.edu	37	7	43917780	43917780	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:43917780C>A	ENST00000336086.6	-	4	3389	c.1153G>T	c.(1153-1155)Gtg>Ttg	p.V385L	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.V385L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.V419L|URGCP_ENST00000453200.1_Missense_Mutation_p.V428L|URGCP_ENST00000223341.7_Missense_Mutation_p.V385L|URGCP_ENST00000447717.3_Missense_Mutation_p.V385L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	428					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCTCTTCACGAAGCTGTCG	0.537000													46	110					1.48734e-19	2.13912e-19	0.013114	1	0
CCDC138	165055	broad.mit.edu	37	2	109408221	109408221	+	Silent	SNP	G	G	A	rs36034137	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:109408221G>A	ENST00000295124.4	+	4	417	c.357G>A	c.(355-357)tcG>tcA	p.S119S	CCDC138_ENST00000412964.2_Silent_p.S119S|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	119										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTAGTACCTCGAAAATAACCA	0.284000													18	101					0	0	0.010504	0	0
TMEM44	93109	broad.mit.edu	37	3	194344010	194344010	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:194344010C>A	ENST00000392432.2	-	5	760	c.555G>T	c.(553-555)ctG>ctT	p.L185L	TMEM44_ENST00000473092.1_Silent_p.L185L|TMEM44_ENST00000347147.4_Silent_p.L185L|TMEM44_ENST00000381975.3_Silent_p.L185L|TMEM44_ENST00000330115.3_Silent_p.L82L|TMEM44_ENST00000273580.7_Silent_p.L185L	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	185						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CAACGCTACCCAGCAGGTAGC	0.572000													28	17					4.15321e-07	4.72388e-07	0.009535	1	0
OTOA	146183	broad.mit.edu	37	16	21696600	21696600	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:21696600T>A	ENST00000388958.3	+	6	318	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	OTOA_ENST00000388956.4_Missense_Mutation_p.L27Q|OTOA_ENST00000286149.4_Missense_Mutation_p.L106Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	106					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCCCAGAAGCTGCTGGAGGAC	0.577000													28	32					0	0	0.006320	0	0
LILRB4	11006	broad.mit.edu	37	19	55177324	55177324	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:55177324C>A	ENST00000391736.1	+	9	1131	c.816C>A	c.(814-816)ctC>ctA	p.L272L	LILRB4_ENST00000391733.3_Silent_p.L272L|LILRB4_ENST00000430952.2_Silent_p.L272L|LILRB4_ENST00000270452.2_Silent_p.L272L|LILRB4_ENST00000391734.3_Silent_p.L272L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	272						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		tcctgcttctctccctcctcc	0.557000													9	19					0.00621372	0.00638513	0.006214	1	0
MYH8	4626	broad.mit.edu	37	17	10310220	10310220	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10310220G>A	ENST00000403437.2	-	18	2136	c.2042C>T	c.(2041-2043)aCc>aTc	p.T681I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	681	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						AGGAGTTTTGGTTTCATTGGG	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	65					0	0	0.004482	0	0
NR0B1	190	broad.mit.edu	37	X	30327199	30327199	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:30327199C>T	ENST00000378970.4	-	1	516	c.282G>A	c.(280-282)ccG>ccA	p.P94P	NR0B1_ENST00000453287.1_Silent_p.P94P	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	94	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.P94P(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687000													16	18					0	0	0.004990	0	0
MOXD1	26002	broad.mit.edu	37	6	132722446	132722446	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:132722446G>T	ENST00000367963.3	-	1	238	c.120C>A	c.(118-120)ggC>ggA	p.G40G	MOXD1_ENST00000392401.3_Silent_p.G40G	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	40	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.W41fs*59(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCTGGCTCCAGCCCAGCCAGT	0.736000													6	7					1.06961e-07	1.23736e-07	0.003080	1	0
ANKRD24	170961	broad.mit.edu	37	19	4216937	4216937	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:4216937G>T	ENST00000600132.1	+	18	2056	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A684S|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A594S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	594										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCACAGGAGCCAAGGTCAC	0.562000													3	11					0.004672	0.00481416	0.004672	1	0
DSCAML1	57453	broad.mit.edu	37	11	117299175	117299175	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:117299175G>A	ENST00000321322.6	-	33	6212	c.6211C>T	c.(6211-6213)Cca>Tca	p.P2071S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1801S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2011					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGCTCGTGGAGGCTCGGTG	0.746000													7	6					0	0	0.003080	0	0
BMPER	168667	broad.mit.edu	37	7	34009964	34009964	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:34009964G>A	ENST00000297161.2	+	6	800	c.426G>A	c.(424-426)ggG>ggA	p.G142G	BMPER_ENST00000426693.1_Silent_p.G142G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGAGTCTGGGGTGCGCTGTG	0.488000													44	77					0	0	0.014410	0	0
PROX1	5629	broad.mit.edu	37	1	214170119	214170119	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:214170119G>A	ENST00000366958.4	+	2	849	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	PROX1_ENST00000261454.4_Missense_Mutation_p.E81K|PROX1_ENST00000435016.1_Missense_Mutation_p.E81K|PROX1_ENST00000498508.2_Missense_Mutation_p.E81K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	81					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAACTCGTATGAAGATGCCAT	0.478000													9	71					0	0	0.008291	0	0
MYH13	8735	broad.mit.edu	37	17	10206572	10206572	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10206572C>A	ENST00000418404.3	-	38	5771	c.5608G>T	c.(5608-5610)Gac>Tac	p.D1870Y	MYH13_ENST00000570743.1_Missense_Mutation_p.D1870Y|MYH13_ENST00000252172.4_Missense_Mutation_p.D1870Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1870					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						TCCACCAGGTCCTGGAGCCTA	0.582000													92	154					1.11883e-47	1.81596e-47	0.014410	1	0
GBF1	8729	broad.mit.edu	37	10	104120033	104120033	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:104120033G>A	ENST00000369983.3	+	12	1530	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	424					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCATAACTCAGAGGTTATGAT	0.562000													183	89					0	0	0.014410	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041671	51041671	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:51041671G>T	ENST00000329492.3	+	3	308	c.191G>T	c.(190-192)cGc>cTc	p.R64L	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R64L|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R37L|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R64L|MAPK8IP2_ENST00000399908.2_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	64					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCTGGGGCGCTCGGAGCAG	0.612000													16	14					2.32078e-09	2.81136e-09	0.003163	1	0
COL5A2	1290	broad.mit.edu	37	2	189918902	189918902	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:189918902C>A	ENST00000374866.3	-	36	2702	c.2428G>T	c.(2428-2430)Ggt>Tgt	p.G810C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	810					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGTAGGACCTGCCGGACCT	0.393000													55	71					3.63617e-18	5.08246e-18	0.014410	1	0
RELN	5649	broad.mit.edu	37	7	103389906	103389906	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:103389906G>T	ENST00000428762.1	-	6	782	c.623C>A	c.(622-624)tCc>tAc	p.S208Y	RELN_ENST00000343529.5_Missense_Mutation_p.S208Y|RELN_ENST00000424685.2_Missense_Mutation_p.S208Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGGTGGTAGGAGTCAAAGTC	0.343000													57	70					2.165e-29	3.35327e-29	0.014410	1	0
MSN	4478	broad.mit.edu	37	X	64957172	64957172	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:64957172G>T	ENST00000360270.5	+	10	1395	c.1223G>T	c.(1222-1224)cGg>cTg	p.R408L	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	408					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CAGGCCTCCCGGGACCAGAAA	0.542000			T	ALK	ALCL								5	13					1.23904e-05	1.35948e-05	0.000602	1	0
PKDREJ	10343	broad.mit.edu	37	22	46658330	46658330	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:46658330G>A	ENST00000253255.5	-	1	889	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	297	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCACTGTAACGAATTATTGGG	0.572000													125	132					0	0	0.014410	0	0
PDE10A	10846	broad.mit.edu	37	6	165752772	165752772	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:165752772C>A	ENST00000366882.1	-	21	2297	c.2143G>T	c.(2143-2145)Ggc>Tgc	p.G715C	PDE10A_ENST00000539869.2_Missense_Mutation_p.G725C|PDE10A_ENST00000354448.4_Missense_Mutation_p.G715C			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	715					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CATACCTGGCCTTGGGGGACT	0.353000													23	92					5.35356e-11	6.7258e-11	0.002780	1	0
TNIP3	79931	broad.mit.edu	37	4	122075747	122075747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:122075747C>A	ENST00000454328.1	-	7	678	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	TNIP3_ENST00000057513.3_Nonsense_Mutation_p.E151*|TNIP3_ENST00000509841.1_Nonsense_Mutation_p.E228*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.E221*			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	151										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TGTTCCTTTTCCTTGTTCGCA	0.343000													19	14					4.96729e-08	5.79128e-08	0.008871	1	0
FARP1	10160	broad.mit.edu	37	13	99092244	99092244	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:99092244G>T	ENST00000376586.2	+	23	2892	c.2556G>T	c.(2554-2556)gtG>gtT	p.V852V	FARP1_ENST00000595437.1_Silent_p.V852V|FARP1_ENST00000319562.6_Silent_p.V821V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	821	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTGGGGGGTGCCCCACTGCC	0.617000													157	65					1.46131e-73	2.40326e-73	0.014410	1	0
OR5J2	282775	broad.mit.edu	37	11	55944656	55944656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55944656C>A	ENST00000312298.1	+	1	563	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTAAAGCTGTCATGTTCTGAC	0.438000													47	77					2.13384e-23	3.21154e-23	0.014410	1	0
GCOM1	145781	broad.mit.edu	37	15	57929944	57929944	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:57929944G>A	ENST00000574161.1	+	9	1104	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	GCOM1_ENST00000380560.2_Missense_Mutation_p.G260R|MYZAP_ENST00000380565.4_Missense_Mutation_p.G329R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.G329R|GCOM1_ENST00000380569.2_Missense_Mutation_p.G329R|MYZAP_ENST00000267853.5_Missense_Mutation_p.G329R|GCOM1_ENST00000380561.2_Missense_Mutation_p.G298R|GCOM1_ENST00000396180.1_Missense_Mutation_p.G298R|GCOM1_ENST00000587652.1_Missense_Mutation_p.G329R|GCOM1_ENST00000572390.1_Missense_Mutation_p.G329R	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		329					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGAAATGTCTGGGGAGTTAAC	0.383000													6	9					0	0	0.001984	0	0
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													5	29					0.00116845	0.00122777	0.001168	1	0
SUPT6H	6830	broad.mit.edu	37	17	27008409	27008409	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:27008409G>T	ENST00000314616.6	+	12	1768	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E495D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	495					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCAGGGAAGAGGGAGATGAAG	0.468000													24	41					6.12954e-19	8.64868e-19	0.004656	1	0
FBXO24	26261	broad.mit.edu	37	7	100192139	100192139	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100192139C>A	ENST00000241071.6	+	6	1249	c.927C>A	c.(925-927)aaC>aaA	p.N309K	FBXO24_ENST00000427939.2_Missense_Mutation_p.N347K|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.N295K|FBXO24_ENST00000468962.1_Missense_Mutation_p.N297K|FBXO24_ENST00000465843.1_Missense_Mutation_p.N295K	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	309						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGACTTCCAACCAGAGCAGCA	0.602000													18	22					5.01169e-05	5.39554e-05	0.004990	1	0
OPALIN	93377	broad.mit.edu	37	10	98105775	98105775	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:98105775C>T	ENST00000419479.1	-	7	826	c.319G>A	c.(319-321)Gac>Aac	p.D107N	OPALIN_ENST00000371172.3_Missense_Mutation_p.D117N|OPALIN_ENST00000393870.2_Missense_Mutation_p.D106N|OPALIN_ENST00000536387.1_Missense_Mutation_p.D107N|OPALIN_ENST00000393871.1_Missense_Mutation_p.D94N	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	117						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CGGTAACGGTCATGCACAGGT	0.507000													59	41					0	0	0.014410	0	0
ZNF878	729747	broad.mit.edu	37	19	12154763	12154763	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:12154763C>G	ENST00000602107.1	-	5	1593	c.1594G>C	c.(1594-1596)Ggg>Cgg	p.G532R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.G485R			C9JN71	ZN878_HUMAN	zinc finger protein 878	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGCTTTCCCACACTGTTTA	0.383000													49	13					0	0	0.014410	0	0
AGAP3	116988	broad.mit.edu	37	7	150784095	150784095	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:150784095G>T	ENST00000397238.2	+	1	267	c.267G>T	c.(265-267)ctG>ctT	p.L89L	AGAP3_ENST00000473312.1_Silent_p.L89L|AGAP3_ENST00000479901.1_Silent_p.L89L|AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	53	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTACGACCTGATCGAGCGCA	0.667000													7	12					1.76689e-08	2.09274e-08	0.006214	1	0
MAP3K19	80122	broad.mit.edu	37	2	135744037	135744037	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:135744037G>A	ENST00000375845.3	-	7	2435	c.2405C>T	c.(2404-2406)cCt>cTt	p.P802L	MAP3K19_ENST00000358371.4_Missense_Mutation_p.P689L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P819L|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TGAGACAGGAGGGAATTCATT	0.388000													54	56					0	0	0.014410	0	0
CACNA1G	8913	broad.mit.edu	37	17	48676874	48676874	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:48676874G>T	ENST00000352832.5	+	16	3647	c.3275G>T	c.(3274-3276)cGt>cTt	p.R1092L	CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1092L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1092L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1092L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1092L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1115L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1115L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1092L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1115L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1115L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1115L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1115					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCCTCGGCCGTGCACCCAGC	0.677000													10	9					4.68919e-08	5.48422e-08	0.008291	1	0
RIBC1	158787	broad.mit.edu	37	X	53455483	53455483	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53455483C>G	ENST00000457095.1	+	5	656	c.452C>G	c.(451-453)aCa>aGa	p.T151R	RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.T151R	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	151										lung(2)	2						GACAGGGACACACGGCTGAGA	0.507000													14	18					0	0	0.003163	0	0
SI	6476	broad.mit.edu	37	3	164737463	164737463	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:164737463A>T	ENST00000264382.3	-	28	3412	c.3350T>A	c.(3349-3351)gTg>gAg	p.V1117E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1117	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTATGTTCCACTTCCCCAAA	0.438000										HNSCC(35;0.089)			19	76					0	0	0.007413	0	0
AKAP3	10566	broad.mit.edu	37	12	4747326	4747326	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:4747326C>T	ENST00000545990.2	-	4	561	c.37G>A	c.(37-39)Gga>Aga	p.G13R	AKAP3_ENST00000228850.1_Missense_Mutation_p.G13R	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	13					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.G13*(2)		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						TTGCATACTCCATTTTGGCTT	0.408000													44	149					0	0	0.011902	0	0
KRT10	3858	broad.mit.edu	37	17	38975866	38975866	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:38975866C>G	ENST00000269576.5	-	6	1285	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	426	Coil 2.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTCTGGCACTCGGTTTCAGCT	0.483000													6	135					0	0	0.001984	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846439	43846439	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43846439G>C	ENST00000389420.3	-	13	1819	c.1820C>G	c.(1819-1821)aCt>aGt	p.T607S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T607S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	607	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATGAATCAGTATTACATGA	0.403000													3	20					0	0	0.004672	0	0
STRN3	29966	broad.mit.edu	37	14	31405784	31405784	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:31405784C>A	ENST00000355683.5	-	6	978	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	STRN3_ENST00000357479.5_Missense_Mutation_p.D255Y	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	255					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TCACTGTCATCGGCATTTTCT	0.363000													58	17					2.37032e-18	3.31934e-18	0.014410	1	0
T	6862	broad.mit.edu	37	6	166581041	166581041	+	Silent	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:166581041C>G	ENST00000296946.2	-	2	507	c.39G>C	c.(37-39)ctG>ctC	p.L13L	T_ENST00000366871.3_Silent_p.L13L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	13					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTCGGTACTGCAGGCTCTTTC	0.697000									Chordoma, Familial Clustering of				5	8					0	0	0.000602	0	0
HDAC6	10013	broad.mit.edu	37	X	48678561	48678561	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48678561G>T	ENST00000334136.5	+	23	2414	c.2236G>T	c.(2236-2238)Ggg>Tgg	p.G746W	HDAC6_ENST00000444343.2_Missense_Mutation_p.G760W|HDAC6_ENST00000376619.2_Missense_Mutation_p.G746W			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	746	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGCTGCACGGGGGGATCCGCT	0.572000													15	74					1.15088e-07	1.31706e-07	0.004007	1	0
DIEXF	27042	broad.mit.edu	37	1	210006693	210006693	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:210006693A>G	ENST00000491415.2	+	4	609	c.552A>G	c.(550-552)aaA>aaG	p.K184K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	184					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTTCTTTGAAAGCCTCTCAAG	0.398000													44	85					0	0	0.013114	0	0
ARPP21	10777	broad.mit.edu	37	3	35778754	35778754	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:35778754G>A	ENST00000187397.4	+	16	2000	c.1544G>A	c.(1543-1545)gGg>gAg	p.G515E	ARPP21_ENST00000417925.1_Missense_Mutation_p.G481E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G461E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G481E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G461E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	515	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCATGGTGGGGCAGTCCCAA	0.627000													30	27					0	0	0.008361	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243466	23243466	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:23243466T>G	ENST00000356206.6	-	13	1926	c.1691A>C	c.(1690-1692)cAc>cCc	p.H564P	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		acattgcaagtgtttggtggc	0.448000													35	92					0	0	0.003755	0	0
GAGE10	643832	broad.mit.edu	37	X	49173663	49173663	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:49173663G>C	ENST00000407599.3	+	4	317	c.224G>C	c.(223-225)aGc>aCc	p.S75T		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	75								p.S75I(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GAAGCTGATAGCCAGGAACAG	0.423000													68	152					0	0	0.014410	0	0
PLCH1	23007	broad.mit.edu	37	3	155218533	155218533	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:155218533G>T	ENST00000460012.1	-	14	2022	c.1665C>A	c.(1663-1665)gaC>gaA	p.D555E	PLCH1_ENST00000494598.1_Missense_Mutation_p.D573E|PLCH1_ENST00000414191.1_Missense_Mutation_p.D555E|PLCH1_ENST00000340059.7_Missense_Mutation_p.D573E|PLCH1_ENST00000334686.6_Missense_Mutation_p.D555E|PLCH1_ENST00000447496.2_Missense_Mutation_p.D573E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	573					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTGCTGTGTGTCTTCCTCAT	0.428000													14	129					1.5739e-10	1.95752e-10	0.004007	1	0
PRDM9	56979	broad.mit.edu	37	5	23522738	23522738	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:23522738A>G	ENST00000296682.3	+	8	808	c.626A>G	c.(625-627)cAg>cGg	p.Q209R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	209					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGATGTGTCAGAACTTCTTC	0.483000										HNSCC(3;0.000094)			20	15					0	0	0.008871	0	0
SPTB	6710	broad.mit.edu	37	14	65268548	65268548	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:65268548G>A	ENST00000389722.3	-	5	624	c.571C>T	c.(571-573)Cct>Tct	p.P191S	SPTB_ENST00000389720.3_Missense_Mutation_p.P191S|SPTB_ENST00000389721.5_Missense_Mutation_p.P191S|SPTB_ENST00000542895.1_Missense_Mutation_p.P191S|SPTB_ENST00000556626.1_Missense_Mutation_p.P191S	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	191	Actin-binding.|CH 2.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTAACATGAGGGTAGCTGCAT	0.463000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	129	17					0	0	0.014410	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202224	9202224	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:9202224C>A	ENST00000382496.5	-	9	1440	c.775G>T	c.(775-777)Ggt>Tgt	p.G259C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	259	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGCGCCCACCAATATCGTTC	0.507000													30	59					4.02929e-09	4.84946e-09	0.010818	1	0
FASTKD3	79072	broad.mit.edu	37	5	7867502	7867502	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:7867502C>T	ENST00000264669.5	-	2	831	c.695G>A	c.(694-696)gGt>gAt	p.G232D	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	232					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTCACACAACCTGAACTGTG	0.418000													22	74					0	0	0.010504	0	0
RYR2	6262	broad.mit.edu	37	1	237774236	237774236	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:237774236C>A	ENST00000366574.2	+	36	5175	c.4858C>A	c.(4858-4860)Cag>Aag	p.Q1620K	RYR2_ENST00000542537.1_Missense_Mutation_p.Q1604K|RYR2_ENST00000360064.6_Missense_Mutation_p.Q1618K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1620	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGTTGGTGCAGTGTTTGGA	0.502000													5	14					2.0095e-06	2.26486e-06	0.001984	1	0
ARMC3	219681	broad.mit.edu	37	10	23248003	23248003	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:23248003T>A	ENST00000298032.5	+	5	381	c.297T>A	c.(295-297)gaT>gaA	p.D99E	ARMC3_ENST00000409049.3_Missense_Mutation_p.D99E|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.D99E	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	99							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTAGATGATGTTAAAAAAT	0.373000													30	27					0	0	0.009535	0	0
PPM1A	5494	broad.mit.edu	37	14	60756619	60756619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:60756619G>T	ENST00000395076.4	+	4	1478	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	PPM1A_ENST00000325642.3_Nonsense_Mutation_p.E423*|PPM1A_ENST00000529574.1_Nonsense_Mutation_p.E350*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	350					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ACCAGGGGGTGAATTGGCAAG	0.438000													28	37					8.58068e-18	1.19265e-17	0.007291	1	0
OR52K2	119774	broad.mit.edu	37	11	4470788	4470788	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:4470788G>T	ENST00000325719.4	+	1	264	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCGACCTGGTCCTTTCCT	0.527000													74	107					4.12397e-46	6.66456e-46	0.014410	1	0
LRFN2	57497	broad.mit.edu	37	6	40399511	40399511	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:40399511G>A	ENST00000338305.6	-	2	1884	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	448	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTTCACCCGGGGTGCTGAC	0.592000													11	37					0	0	0.013537	0	0
HTR3C	170572	broad.mit.edu	37	3	183776244	183776244	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:183776244G>A	ENST00000318351.1	+	6	623	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	197						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CATGGACAAGGAGGTGTGGGA	0.582000													9	108					0	0	0.004482	0	0
LCT	3938	broad.mit.edu	37	2	136566979	136566979	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:136566979A>T	ENST00000264162.2	-	8	2948	c.2938T>A	c.(2938-2940)Tgg>Agg	p.W980R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	980	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCCGAGACCAGGAGATAGAG	0.498000													40	50					0	0	0.008740	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43769237	43769237	+	Silent	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:43769237A>G	ENST00000389420.3	-	36	5390	c.5391T>C	c.(5389-5391)gcT>gcC	p.A1797A		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1797	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGTGTATCCAGCAGCTAAGT	0.338000													15	57					0	0	0.002450	0	0
C11orf16	56673	broad.mit.edu	37	11	8947492	8947492	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:8947492G>A	ENST00000326053.5	-	5	828	c.722C>T	c.(721-723)cCt>cTt	p.P241L	C11orf16_ENST00000525780.1_Missense_Mutation_p.P241L	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	241										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGAGCAGCAAGGGGCCCAGTG	0.612000													14	91					0	0	0.002450	0	0
CSMD2	114784	broad.mit.edu	37	1	34174731	34174731	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:34174731C>T	ENST00000373381.4	-	22	3710	c.3534G>A	c.(3532-3534)ctG>ctA	p.L1178L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.L51L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1138	CUB 7.					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)				CCCTGGCTTTCAGCTGAATTC	0.443000													8	60					0	0	0.008291	0	0
WIZ	58525	broad.mit.edu	37	19	15537872	15537872	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:15537872C>A	ENST00000389282.4	-	6	3786	c.3573G>T	c.(3571-3573)ccG>ccT	p.P1191P	WIZ_ENST00000263381.6_Silent_p.P334P|WIZ_ENST00000599910.1_Silent_p.P508P|WIZ_ENST00000599686.2_Silent_p.P375P|WIZ_ENST00000545156.1_Silent_p.P505P			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1191						nucleus	zinc ion binding	p.E331fs*9(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GAAGGGCCCCCGGCAGCATCT	0.607000													75	22					5.02462e-34	7.93081e-34	0.014410	1	0
DPH1	1801	broad.mit.edu	37	17	1936719	1936719	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:1936719C>A	ENST00000570477.1	+	0	33				DPH1_ENST00000263083.6_Intron			Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1						peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						accggcaggccctgaaaaggg	0.512000													22	29					0.000295444	0.000314886	0.014323	1	0
HUWE1	10075	broad.mit.edu	37	X	53658553	53658553	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:53658553G>C	ENST00000342160.3	-	9	1116	c.659C>G	c.(658-660)aCa>aGa	p.T220R	HUWE1_ENST00000218328.8_Missense_Mutation_p.T220R|HUWE1_ENST00000262854.6_Missense_Mutation_p.T220R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	220					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						ATAATGTAGTGTGTTACTAGT	0.378000													18	63					0	0	0.010504	0	0
AP2A1	160	broad.mit.edu	37	19	50305113	50305113	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:50305113C>T	ENST00000354293.5	+	14	2086	c.1920C>T	c.(1918-1920)atC>atT	p.I640I	AP2A1_ENST00000359032.5_Silent_p.I640I	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	640					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCAACGACATCAACGGGGGCA	0.716000													6	4					0	0	0.001168	0	0
GABRA5	2558	broad.mit.edu	37	15	27128609	27128609	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:27128609C>T	ENST00000335625.5	+	6	1290	c.402C>T	c.(400-402)ttC>ttT	p.F134F	GABRA5_ENST00000355395.5_Silent_p.F134F|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Silent_p.F134F	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	134					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGACACGTTCTTCCACAACG	0.577000													6	47					0	0	0.001168	0	0
BEST3	144453	broad.mit.edu	37	12	70087573	70087573	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:70087573C>A	ENST00000330891.5	-	4	588	c.362G>T	c.(361-363)gGg>gTg	p.G121V	BEST3_ENST00000266661.4_Missense_Mutation_p.G15V|BEST3_ENST00000331471.4_Missense_Mutation_p.G121V|BEST3_ENST00000393365.1_Missense_Mutation_p.G15V|BEST3_ENST00000553096.1_Missense_Mutation_p.G15V|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000551160.1_Missense_Mutation_p.G15V|BEST3_ENST00000476098.1_5'UTR	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	121						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGCAGGCGCCCGTGCTCGTC	0.532000													15	30					1.52009e-12	1.98679e-12	0.003163	1	0
MXRA5	25878	broad.mit.edu	37	X	3235181	3235181	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:3235181T>A	ENST00000217939.6	-	6	6695	c.6541A>T	c.(6541-6543)Agg>Tgg	p.R2181W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2181	Ig-like C2-type 6.					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)				GACGGCAGCCTCCAGAGGATG	0.652000													3	8					0	0	0.004672	0	0
TRIM36	55521	broad.mit.edu	37	5	114472790	114472790	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:114472790A>G	ENST00000513154.1	-	7	1443	c.1117T>C	c.(1117-1119)Ttt>Ctt	p.F373L	TRIM36_ENST00000514154.1_Missense_Mutation_p.F230L|TRIM36_ENST00000282369.3_Missense_Mutation_p.F385L			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	385	COS.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCAGGTCTAAAGCTCTTCAAA	0.333000													12	13					0	0	0.002450	0	0
NOS1	4842	broad.mit.edu	37	12	117685212	117685212	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:117685212C>T	ENST00000317775.6	-	18	3449	c.2764G>A	c.(2764-2766)Ggg>Agg	p.G922R	NOS1_ENST00000338101.4_Missense_Mutation_p.G956R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	922	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTCATCCCCTTCCCTCATC	0.552000													54	61					0	0	0.014410	0	0
OTOGL	283310	broad.mit.edu	37	12	80655760	80655760	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:80655760G>T	ENST00000458043.2	+	18	1880	c.1874G>T	c.(1873-1875)gGc>gTc	p.G625V	OTOGL_ENST00000547103.1_Missense_Mutation_p.G625V	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCTCCATCAGGCATGATAGAA	0.393000													9	45					3.07112e-06	3.44058e-06	0.010729	1	0
TBC1D2	55357	broad.mit.edu	37	9	101017708	101017708	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:101017708C>G	ENST00000375066.5	-	1	207	c.116G>C	c.(115-117)cGg>cCg	p.R39P	TBC1D2_ENST00000375064.1_Missense_Mutation_p.R39P|TBC1D2_ENST00000342112.5_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	39	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTCCAGGGACCGGGCGCAGTC	0.637000													14	30					0	0	0.002450	0	0
RAB39B	116442	broad.mit.edu	37	X	154493403	154493403	+	Silent	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:154493403G>C	ENST00000369454.3	-	1	471	c.171C>G	c.(169-171)cgC>cgG	p.R57R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	57				R -> T (in Ref. 1; AAL12244).	protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	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)					GGAGCTTGATGCGTTTTCCTG	0.622000													34	24					0	0	0.003755	0	0
ZNF341	84905	broad.mit.edu	37	20	32378871	32378871	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:32378871C>T	ENST00000375200.1	+	15	2478	c.2113C>T	c.(2113-2115)Cac>Tac	p.H705Y	RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.H698Y			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCAGCGCGCCCACACGGGCAA	0.612000													17	44					0	0	0.004007	0	0
OR2G3	81469	broad.mit.edu	37	1	247769784	247769784	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:247769784G>C	ENST00000320002.2	+	1	929	c.897G>C	c.(895-897)gaG>gaC	p.E299D	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATATGAAAGAGGCTCTGAGGA	0.408000													39	76					0	0	0.009718	0	0
NR2F1	7025	broad.mit.edu	37	5	92923837	92923837	+	Silent	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:92923837G>C	ENST00000327111.3	+	2	2365	c.678G>C	c.(676-678)ctG>ctC	p.L226L		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	226					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCGCGCGCCTGCTCTTCAGCG	0.652000													40	28					0	0	0.009718	0	0
SLC26A9	115019	broad.mit.edu	37	1	205900999	205900999	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:205900999C>G	ENST00000367135.3	-	5	654	c.541G>C	c.(541-543)Gcc>Ccc	p.A181P	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A181P|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A181P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	181						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGGATGATGGCGGTGAGGCAG	0.562000													21	31					0	0	0.010504	0	0
HTR3C	170572	broad.mit.edu	37	3	183776222	183776222	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:183776222C>A	ENST00000318351.1	+	6	601	c.567C>A	c.(565-567)agC>agA	p.S189R		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	189						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGGACAGCATGCTGCTGG	0.567000													6	90					0.00198382	0.00207576	0.001984	1	0
OR2M7	391196	broad.mit.edu	37	1	248487047	248487047	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248487047G>A	ENST00000317965.2	-	1	852	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGAATACAGACACCATCTT	0.463000													43	64					0	0	0.007835	0	0
CTSG	1511	broad.mit.edu	37	14	25043923	25043923	+	Silent	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:25043923T>C	ENST00000216336.2	-	3	333	c.297A>G	c.(295-297)caA>caG	p.Q99Q		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	99	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GCTGATTATATTGAGGGTGGC	0.537000													104	28					0	0	0.014410	0	0
DDX43	55510	broad.mit.edu	37	6	74116174	74116174	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:74116174C>A	ENST00000370336.4	+	7	1053	c.895C>A	c.(895-897)Cct>Act	p.P299T	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	299	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTATTTAATGCCTGGATTTAT	0.378000													23	20					9.57634e-11	1.19704e-10	0.003330	1	0
SHROOM2	357	broad.mit.edu	37	X	9862691	9862691	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:9862691G>T	ENST00000380913.3	+	4	833	c.743G>T	c.(742-744)gGt>gTt	p.G248V		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	248					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCAGGCAGGGTGGCCGGCAG	0.667000													3	13					2.56e-06	2.87662e-06	0.009096	1	0
TELO2	9894	broad.mit.edu	37	16	1552736	1552736	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:1552736G>T	ENST00000262319.6	+	14	2023	c.1744G>T	c.(1744-1746)Gcc>Tcc	p.A582S	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	582						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCCCTGGTGGCCGTCACGGT	0.672000													33	92					1.58521e-26	2.43501e-26	0.005524	1	0
ANK2	287	broad.mit.edu	37	4	114238907	114238907	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:114238907C>T	ENST00000357077.4	+	25	2791	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V	ANK2_ENST00000394537.3_Missense_Mutation_p.A913V|ANK2_ENST00000506722.1_Missense_Mutation_p.A892V|ANK2_ENST00000509550.1_Missense_Mutation_p.A122V|ANK2_ENST00000264366.6_Missense_Mutation_p.A913V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	913					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGAGCCATGCCTCCTACCTG	0.527000													26	18					0	0	0.009535	0	0
GMPS	8833	broad.mit.edu	37	3	155632262	155632262	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:155632262A>G	ENST00000496455.1	+	8	1276	c.941A>G	c.(940-942)gAt>gGt	p.D314G	GMPS_ENST00000295920.7_Missense_Mutation_p.D215G	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	314					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAATATCAGATGAAGATAGA	0.358000			T	MLL	AML								8	84					0	0	0.003080	0	0
RB1	5925	broad.mit.edu	37	13	48941688	48941688	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:48941688C>T	ENST00000267163.4	+	10	1136	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	333					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTAGATGCAAGATTATTT	0.284000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			48	29					0	0	0.014410	0	0
ZNF415	55786	broad.mit.edu	37	19	53612438	53612438	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:53612438A>G	ENST00000455735.2	-	7	1324	c.1004T>C	c.(1003-1005)cTt>cCt	p.L335P	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.L57P|ZNF415_ENST00000243643.4_Missense_Mutation_p.L287P|ZNF415_ENST00000440291.1_Missense_Mutation_p.L274P|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.L299P|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.L287P|ZNF415_ENST00000448501.1_Missense_Mutation_p.L335P			Q09FC8	ZN415_HUMAN	zinc finger protein 415	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.L287H(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ATGTAGTGCAAGGCATGAGTT	0.413000													11	75					0	0	0.008291	0	0
BPIFC	254240	broad.mit.edu	37	22	32828502	32828502	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:32828502G>T	ENST00000397452.1	-	11	1117	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H	BPIFC_ENST00000300399.3_Missense_Mutation_p.P336H|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000534972.1_Missense_Mutation_p.P60H			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	336						extracellular region	lipopolysaccharide binding|phospholipid binding										CACCATGAAGGGCTGGGACAA	0.488000													33	66					4.4194e-11	5.58043e-11	0.013726	1	0
GCAT	23464	broad.mit.edu	37	22	38212669	38212669	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:38212669G>T	ENST00000323205.6	+	9	1345	c.1282G>T	c.(1282-1284)Gac>Tac	p.D428Y	GCAT_ENST00000248924.6_Missense_Mutation_p.D402Y	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	402					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGAAGACATTGACCGCTGCGT	0.627000													43	60					7.53189e-24	1.13588e-23	0.007835	1	0
GRID2	2895	broad.mit.edu	37	4	94377028	94377028	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:94377028G>C	ENST00000282020.4	+	11	2019	c.1761G>C	c.(1759-1761)ttG>ttC	p.L587F	GRID2_ENST00000510992.1_Missense_Mutation_p.L492F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	587					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTACCTCTTGAACTGGCTTA	0.453000													8	74					0	0	0.003080	0	0
FUT9	10690	broad.mit.edu	37	6	96651708	96651708	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:96651708T>A	ENST00000302103.5	+	3	1003	c.677T>A	c.(676-678)gTc>gAc	p.V226D		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	226					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGAGAATATGTCAATGATAAA	0.353000													8	20					0	0	0.006214	0	0
NXPE4	54827	broad.mit.edu	37	11	114453199	114453199	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:114453199T>G	ENST00000375478.3	-	3	821	c.641A>C	c.(640-642)cAa>cCa	p.Q214P	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AGAGTGGACTTGGGAAGTGCC	0.512000													36	28					0	0	0.005524	0	0
LIMA1	51474	broad.mit.edu	37	12	50594642	50594642	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:50594642T>C	ENST00000341247.4	-	7	1039	c.890A>G	c.(889-891)gAa>gGa	p.E297G	LIMA1_ENST00000552909.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552823.1_Missense_Mutation_p.E137G|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.E297G|LIMA1_ENST00000552783.1_Missense_Mutation_p.E137G	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	297					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AATTTTGATTTCGCCACCACT	0.388000													110	123					0	0	0.014410	0	0
GPR112	139378	broad.mit.edu	37	X	135429618	135429618	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:135429618C>A	ENST00000394143.1	+	6	4044	c.3753C>A	c.(3751-3753)acC>acA	p.T1251T	GPR112_ENST00000412101.1_Silent_p.T1046T|GPR112_ENST00000287534.4_Silent_p.T1188T|GPR112_ENST00000394141.1_Silent_p.T1046T|GPR112_ENST00000370652.1_Silent_p.T1251T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1251					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACTAGCACCTCTGTCTTAT	0.433000													16	123					0.00498961	0.00513433	0.004990	1	0
ESPL1	9700	broad.mit.edu	37	12	53684657	53684657	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:53684657G>T	ENST00000257934.4	+	25	5488	c.5397G>T	c.(5395-5397)ctG>ctT	p.L1799L	ESPL1_ENST00000552462.1_Silent_p.L1799L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1799					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGTCTGTGCTGGGCTGCTGGA	0.592000													8	11					1.06961e-07	1.23736e-07	0.003080	1	0
CHFR	55743	broad.mit.edu	37	12	133433063	133433063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:133433063G>C	ENST00000266880.7	-	11	1319	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*	CHFR_ENST00000432561.2_Nonsense_Mutation_p.S419*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.S378*|CHFR_ENST00000450056.2_Nonsense_Mutation_p.S407*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.S327*|CHFR_ENST00000537522.1_Nonsense_Mutation_p.S41*|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	419					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTAATGTCTGAGGACTCACT	0.537000													31	108					0	0	0.008361	0	0
TCN1	6947	broad.mit.edu	37	11	59626621	59626621	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:59626621C>G	ENST00000257264.3	-	5	780	c.676G>C	c.(676-678)Gaa>Caa	p.E226Q	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	226					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAATCTTTTCTACCAGTGAC	0.413000													56	105					0	0	0.014410	0	0
OR5W2	390148	broad.mit.edu	37	11	55681386	55681386	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:55681386C>T	ENST00000344514.1	-	1	672	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTCCAAGACTGATAGGATG	0.403000													20	45					0	0	0.012319	0	0
COL11A2	1302	broad.mit.edu	37	6	33146751	33146751	+	Splice_Site	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:33146751C>A	ENST00000341947.2	-	17	1839		c.e17-1		COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						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						CTGCCCGGCCCTGGGAGAACA	0.647000													16	11					0.00400662	0.00415151	0.004007	1	0
UCHL5	51377	broad.mit.edu	37	1	193028325	193028325	+	Translation_Start_Site	SNP	A	A	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:193028325A>C	ENST00000530098.2	-	0	142				UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367451.4_Missense_Mutation_p.I22M|UCHL5_ENST00000367455.3_Missense_Mutation_p.I22M|UCHL5_ENST00000367454.1_Missense_Mutation_p.I22M|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Missense_Mutation_p.I22M|UCHL5_ENST00000367448.1_Missense_Mutation_p.I22M			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CGAATCCTTTAATGAGCTCGG	0.677000													14	7					0	0	0.002450	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848626	92848626	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:92848626G>A	ENST00000394468.2	-	2	295	c.218C>T	c.(217-219)cCc>cTc	p.P73L	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P61L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P61L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P96L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	73						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATTGTGTGGGGTCTCTCAAA	0.498000													38	55					0	0	0.004878	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:90161618C>T	ENST00000567960.1	+	0	354				TUBB8P7_ENST00000564451.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													5	38					0	0	0.006214	0	0
ENOSF1	55556	broad.mit.edu	37	18	677394	677394	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr18:677394G>A	ENST00000319815.6	-	6	1673	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.H374Y|ENOSF1_ENST00000383578.3_Missense_Mutation_p.H285Y|ENOSF1_ENST00000580982.1_Missense_Mutation_p.H291Y|ENOSF1_ENST00000251101.7_Missense_Mutation_p.H367Y			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	367					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATAATCAGGTGCTGCACCAGT	0.433000													6	129					0	0	0.001984	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209620	140209620	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:140209620G>T	ENST00000529310.1	+	1	2058	c.1944G>T	c.(1942-1944)ctG>ctT	p.L648L	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGGCTGCTGGTGCTGGTGA	0.667000													37	16					3.6622e-26	5.61386e-26	0.003755	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497720	1497720	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:1497720G>A	ENST00000421627.2	+	2	995	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	366					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGTACCTGAAGCGCAGCTCCT	0.642000													11	40					0	0	0.010729	0	0
TRIM67	440730	broad.mit.edu	37	1	231335944	231335944	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:231335944C>T	ENST00000444294.3	+	4	2172	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	TRIM67_ENST00000366652.2_Silent_p.T438T|TRIM67_ENST00000449018.3_Silent_p.T376T|TRIM67_ENST00000366653.5_Silent_p.T438T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	438						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTCAGTCCACCGGACTGATGG	0.522000													14	147					0	0	0.004990	0	0
SNRPB2	6629	broad.mit.edu	37	20	16719498	16719498	+	Splice_Site	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:16719498G>A	ENST00000246071.6	+	5	596	c.378_splice	c.e5-1	p.G127_splice	SNRPB2_ENST00000377943.5_Splice_Site_p.G127_splice	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	127						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTGCTTAGGGAACTCCAAAT	0.299000													7	22					0	0	0.001984	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419983	105419983	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:105419983C>A	ENST00000333244.5	-	7	1924	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	602						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTTTTTCTCTGCCTGTCTT	0.502000													49	546					6.03219e-31	9.44114e-31	0.014410	1	0
STEAP4	79689	broad.mit.edu	37	7	87910388	87910388	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:87910388G>A	ENST00000380079.4	-	4	1092	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.L155F|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	331	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TCCTTCTTGAGTATTGCCTAA	0.368000													13	23					0	0	0.013537	0	0
PXDN	7837	broad.mit.edu	37	2	1668820	1668820	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:1668820G>C	ENST00000252804.4	-	11	1368	c.1318C>G	c.(1318-1320)Cag>Gag	p.Q440E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	440	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTCTGTCCTGAGGCGTCACA	0.532000													9	8					0	0	0.010729	0	0
NEURL3	93082	broad.mit.edu	37	2	97165148	97165148	+	RNA	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:97165148C>T	ENST00000310865.3	-	0	790									neuralized E3 ubiquitin protein ligase 3																		TTGCTGAGGTCCCATGGCATG	0.642000													21	69					0	0	0.012319	0	0
GPR139	124274	broad.mit.edu	37	16	20043241	20043241	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:20043241C>T	ENST00000570682.1	-	2	1178	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCCATGGTGCGGAACCGCTT	0.512000													51	98					0	0	0.014410	0	0
RELB	5971	broad.mit.edu	37	19	45540703	45540703	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:45540703C>A	ENST00000221452.8	+	12	1545	c.1395C>A	c.(1393-1395)gaC>gaA	p.D465E	RELB_ENST00000505236.1_Missense_Mutation_p.D462E|RELB_ENST00000540120.1_Missense_Mutation_p.D465E	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	465						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CAGACCCTGACTTCTTCTCTG	0.632000													41	193					5.44703e-19	7.7149e-19	0.009718	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113518193	113518193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:113518193G>T	ENST00000284601.3	-	4	3022	c.2954C>A	c.(2953-2955)tCa>tAa	p.S985*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	985					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTACTACCTGATGTCACTAT	0.368000													12	90					1.08611e-07	1.24676e-07	0.010729	1	0
ATP13A5	344905	broad.mit.edu	37	3	193042775	193042775	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:193042775C>A	ENST00000342358.4	-	14	1669	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	518					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAGCCTGGCCTGAGGCAAAG	0.502000													36	284					2.42023e-17	3.33902e-17	0.003271	1	0
PTK7	5754	broad.mit.edu	37	6	43109969	43109969	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:43109969G>T	ENST00000230419.4	+	13	2200	c.1979G>T	c.(1978-1980)gGc>gTc	p.G660V	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.G620V|PTK7_ENST00000481273.1_Missense_Mutation_p.G668V|PTK7_ENST00000349241.2_Missense_Mutation_p.G530V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	660	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGACTCAGGCCGCTACACC	0.607000													27	40					4.74835e-14	6.35103e-14	0.010818	1	0
NPAP1	23742	broad.mit.edu	37	15	24922301	24922301	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:24922301G>T	ENST00000329468.2	+	1	1761	c.1287G>T	c.(1285-1287)ttG>ttT	p.L429F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCCCTGACTTGGCTGACCTGG	0.542000													32	56					2.08457e-15	2.83395e-15	0.010818	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532518	84532518	+	RNA	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:84532518C>T	ENST00000527857.1	+	0	2540					NR_026851.1																						CCTGACAGTACGTTTGAGCAA	0.443000													34	17					0	0	0.005524	0	0
BAZ2B	29994	broad.mit.edu	37	2	160257124	160257124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:160257124G>A	ENST00000392783.2	-	17	3379	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q928*|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q926*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q862*|AC008277.1_ENST00000594921.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	962	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGAATTTGCTGAGCTCGAAGT	0.264000													11	26					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179401131	179401131	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:179401131C>G	ENST00000589042.1	-	357	100567	c.100343G>C	c.(100342-100344)cGa>cCa	p.R33448P	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24383P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24508P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24575P|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30880P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31807P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31807							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)			GACAGTTTCTCGAATTTCTTC	0.388000													23	61					0	0	0.004656	0	0
CCL28	56477	broad.mit.edu	37	5	43382139	43382139	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:43382139G>T	ENST00000537013.1	-	4	304	c.305C>A	c.(304-306)gCa>gAa	p.A102E	CCL28_ENST00000361115.4_Silent_p.R69R|CCL28_ENST00000513525.1_Silent_p.R22R			Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	0					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						AGATTCTTCTGCGCTTGACAT	0.398000													12	60					6.40141e-05	6.88175e-05	0.010729	1	0
GRIA1	2890	broad.mit.edu	37	5	153077675	153077675	+	Silent	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:153077675A>T	ENST00000285900.5	+	9	1549	c.1206A>T	c.(1204-1206)tcA>tcT	p.S402S	GRIA1_ENST00000518142.1_Silent_p.S322S|GRIA1_ENST00000521843.2_Silent_p.S333S|GRIA1_ENST00000448073.4_Silent_p.S412S|GRIA1_ENST00000340592.5_Silent_p.S402S|GRIA1_ENST00000518783.1_Silent_p.S412S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	402					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)	GCGATAATTCAAGTGTTCAGA	0.458000													16	15					0	0	0.006122	0	0
C16orf93	90835	broad.mit.edu	37	16	30771764	30771764	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:30771764C>G	ENST00000543610.1	-	4	1271	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	C16orf93_ENST00000545825.1_Missense_Mutation_p.E104Q|C16orf93_ENST00000541260.1_Missense_Mutation_p.E104Q|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	104										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCAGCAGCTCAGCCAGCACC	0.597000													33	40					0	0	0.010818	0	0
ZNF615	284370	broad.mit.edu	37	19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V|ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438000													76	103					0	0	0.014410	0	0
PARD3	56288	broad.mit.edu	37	10	34671813	34671813	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:34671813T>C	ENST00000374789.3	-	9	1379	c.1054A>G	c.(1054-1056)Atc>Gtc	p.I352V	PARD3_ENST00000340077.5_Missense_Mutation_p.I352V|PARD3_ENST00000544292.1_Missense_Mutation_p.I82V|PARD3_ENST00000350537.4_Missense_Mutation_p.I352V|PARD3_ENST00000374773.1_Missense_Mutation_p.I352V|PARD3_ENST00000545693.1_Missense_Mutation_p.I352V|PARD3_ENST00000374776.1_Missense_Mutation_p.I352V|PARD3_ENST00000374788.3_Missense_Mutation_p.I352V|PARD3_ENST00000545260.1_Missense_Mutation_p.I308V|PARD3_ENST00000346874.4_Missense_Mutation_p.I352V|PARD3_ENST00000374790.3_Missense_Mutation_p.I308V|PARD3_ENST00000374794.3_Missense_Mutation_p.I308V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	352	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AACCAAATGATGGGTGTACGC	0.398000													66	50					0	0	0.014410	0	0
SERPING1	710	broad.mit.edu	37	11	57379390	57379390	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:57379390C>A	ENST00000403558.1	+	6	1725	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L	SERPING1_ENST00000378323.4_Silent_p.L415L|SERPING1_ENST00000378324.2_Silent_p.L358L|SERPING1_ENST00000278407.4_Silent_p.L410L|SERPING1_ENST00000340687.6_Silent_p.L373L	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	410					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGGATATGCTCTCAATCATGG	0.502000													28	49					3.70037e-05	4.00113e-05	0.009535	1	0
TAAR2	9287	broad.mit.edu	37	6	132938351	132938351	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:132938351C>T	ENST00000275191.2	-	1	966	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	TAAR2_ENST00000367931.1_Missense_Mutation_p.G332S|TAAR2_ENST00000537809.1_Missense_Mutation_p.G287S	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	332						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAAATTTTACCTAGCAAAATG	0.343000													23	20					0	0	0.002780	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147793	82147793	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:82147793G>T	ENST00000550584.2	-	2	503	c.208C>A	c.(208-210)Cga>Aga	p.R70R	PPFIA2_ENST00000549325.1_Silent_p.R70R|PPFIA2_ENST00000552948.1_Silent_p.R70R|PPFIA2_ENST00000549396.1_Silent_p.R70R|PPFIA2_ENST00000548586.1_Silent_p.R70R|PPFIA2_ENST00000333447.7_Silent_p.R70R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	329										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTGAGTCTCGGTCATAGATG	0.468000													6	20					2.0095e-06	2.26486e-06	0.001984	1	0
ST18	9705	broad.mit.edu	37	8	53025853	53025853	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:53025853T>G	ENST00000276480.7	-	26	3732	c.3049A>C	c.(3049-3051)Aca>Cca	p.T1017P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	1017						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TACATATCTGTGAGTGTATTT	0.433000													31	88					0	0	0.008361	0	0
TDO2	6999	broad.mit.edu	37	4	156831334	156831334	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:156831334C>A	ENST00000536354.2	+	6	653	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	197					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TAAATCTGAGCAGGAAAAGAC	0.328000													34	26					3.2961e-07	3.75473e-07	0.004878	1	0
C3orf20	84077	broad.mit.edu	37	3	14745912	14745912	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:14745912C>T	ENST00000253697.3	+	7	1399	c.947C>T	c.(946-948)gCa>gTa	p.A316V	C3orf20_ENST00000412910.1_Missense_Mutation_p.A194V|C3orf20_ENST00000435614.1_Missense_Mutation_p.A194V|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	316						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AACTACAAGGCAAAGATGCCC	0.512000													46	26					0	0	0.013114	0	0
NIM1K	167359	broad.mit.edu	37	5	43280809	43280809	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:43280809C>G	ENST00000512796.1	+	4	2788	c.1289C>G	c.(1288-1290)tCc>tGc	p.S430C	NIM1_ENST00000326035.2_Missense_Mutation_p.S430C			Q8IY84	NIM1_HUMAN		430							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AGACACACATCCAAATTTTGC	0.403000													25	33					0	0	0.008361	0	0
SCG3	29106	broad.mit.edu	37	15	51984366	51984366	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:51984366C>A	ENST00000220478.3	+	7	1104	c.701C>A	c.(700-702)gCa>gAa	p.A234E	SCG3_ENST00000542355.2_Missense_Mutation_p.A2E	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	234					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACTCCAATGGCAGCAATTCAA	0.378000													17	98					1.64113e-05	1.79273e-05	0.010504	1	0
GFRA3	2676	broad.mit.edu	37	5	137593402	137593402	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:137593402G>T	ENST00000274721.3	-	4	957	c.711C>A	c.(709-711)ccC>ccA	p.P237P	GFRA3_ENST00000378362.3_Silent_p.P206P	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	237					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCGCGCAGTTGGGGGCGATGG	0.711000													16	6					3.52763e-06	3.92838e-06	0.004990	1	0
PAX1	5075	broad.mit.edu	37	20	21687098	21687098	+	Silent	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:21687098C>T	ENST00000398485.2	+	2	363	c.309C>T	c.(307-309)aaC>aaT	p.N103N	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.N79N	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	103	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGAGGTGAACCAGCTGGGCG	0.662000													23	76					0	0	0.008361	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133292	91133292	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:91133292G>T	ENST00000373094.1	+	2	2898	c.2053G>T	c.(2053-2055)Gtt>Ttt	p.V685F	PCDH11X_ENST00000504220.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V685F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V685F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V685F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V685F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	685	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V685L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTATGAATTGGTTCTACCGTC	0.428000													73	54					8.87156e-34	1.39437e-33	0.014410	1	0
TNIP3	79931	broad.mit.edu	37	4	122075748	122075748	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:122075748C>A	ENST00000454328.1	-	7	677	c.450G>T	c.(448-450)aaG>aaT	p.K150N	TNIP3_ENST00000057513.3_Missense_Mutation_p.K150N|TNIP3_ENST00000509841.1_Missense_Mutation_p.K227N|TNIP3_ENST00000507879.1_Missense_Mutation_p.K220N			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	150										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTCCTTTTCCTTGTTCGCAA	0.348000													17	14					3.52763e-06	3.92838e-06	0.004990	1	0
MYH10	4628	broad.mit.edu	37	17	8451705	8451705	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:8451705G>A	ENST00000360416.3	-	11	1223	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	MYH10_ENST00000379980.4_Missense_Mutation_p.S368L|MYH10_ENST00000269243.4_Missense_Mutation_p.S352L|MYH10_ENST00000396239.1_Missense_Mutation_p.S352L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	352	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGTAGCACTGAAGATACTAC	0.299000													52	49					0	0	0.014410	0	0
RGS17	26575	broad.mit.edu	37	6	153347653	153347653	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:153347653C>A	ENST00000367225.2	-	2	169	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	RGS17_ENST00000206262.1_Missense_Mutation_p.G49W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	49					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GCATTTTCCCCTCTTTCTTCA	0.398000													23	89					1.75199e-13	2.31835e-13	0.007291	1	0
MUC17	140453	broad.mit.edu	37	7	100679156	100679156	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:100679156G>A	ENST00000306151.4	+	3	4523	c.4459G>A	c.(4459-4461)Gtc>Atc	p.V1487I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1487	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)					CAGTCCTGTGGTCACTTCTAC	0.468000													100	238					0	0	0.014410	0	0
CYP46A1	10858	broad.mit.edu	37	14	100157458	100157458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:100157458G>T	ENST00000261835.3	+	2	264	c.160G>T	c.(160-162)Gag>Tag	p.E54*	CYP46A1_ENST00000423126.2_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	54					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAAAAAGGATGAGGTTGGTGG	0.502000													76	115					3.64303e-30	5.67794e-30	0.014410	1	0
DNAH7	56171	broad.mit.edu	37	2	196825030	196825030	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:196825030T>C	ENST00000312428.6	-	18	2945	c.2845A>G	c.(2845-2847)Act>Gct	p.T949A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	949	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						CCTCGCATAGTTTGTGTTTTA	0.323000													11	157					0	0	0.010729	0	0
ACOT9	23597	broad.mit.edu	37	X	23723192	23723192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:23723192G>A	ENST00000379303.5	-	14	1153	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ACOT9_ENST00000379295.1_Missense_Mutation_p.S273F|ACOT9_ENST00000336430.7_Missense_Mutation_p.S333F	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	333					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAACGGTCGAGAACCACTGTT	0.408000													46	68					0	0	0.014410	0	0
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373000													26	38					0	0	0.008361	0	0
ZNF408	79797	broad.mit.edu	37	11	46726538	46726538	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:46726538G>C	ENST00000311764.2	+	5	1518	c.1288G>C	c.(1288-1290)Gta>Cta	p.V430L		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCACCAGGTGGTACATTCAGG	0.647000													26	66					0	0	0.003330	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762559	48762559	+	Silent	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:48762559G>A	ENST00000376521.1	-	4	948	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Silent_p.S237S|SLC35A2_ENST00000247138.5_Silent_p.S209S|SLC35A2_ENST00000413561.2_Silent_p.S148S|SLC35A2_ENST00000376515.3_Intron	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	209					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						AGGAGAGACAGGAGGCCACGA	0.647000													9	7					0	0	0.004482	0	0
C17orf47	284083	broad.mit.edu	37	17	56620308	56620308	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:56620308G>T	ENST00000321691.3	-	1	1421	c.1240C>A	c.(1240-1242)Cct>Act	p.P414T	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	414										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACCGAGGAGGCAAGGGCCTA	0.527000													22	79					3.08376e-08	3.62366e-08	0.003330	1	0
OR51B6	390058	broad.mit.edu	37	11	5373014	5373014	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:5373014G>T	ENST00000380219.1	+	1	277	c.277G>T	c.(277-279)Gga>Tga	p.G93*	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGGCCATGGAGCCTGCTT	0.483000													52	62					7.06795e-37	1.12273e-36	0.014410	1	0
NSUN5	55695	broad.mit.edu	37	7	72718297	72718297	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr7:72718297C>A	ENST00000428206.1	-	7	763	c.750G>T	c.(748-750)gcG>gcT	p.A250A	NSUN5_ENST00000438747.2_Silent_p.A288A|NSUN5_ENST00000310326.8_Silent_p.A288A|NSUN5_ENST00000252594.6_Silent_p.A288A	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	288							methyltransferase activity	p.A288A(1)		breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGGGGGAGACCGCCAGGAAGT	0.632000													17	33					5.3912e-06	5.95912e-06	0.006122	1	0
CEACAM7	1087	broad.mit.edu	37	19	42187790	42187790	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:42187790A>T	ENST00000006724.3	-	3	833	c.632T>A	c.(631-633)aTa>aAa	p.I211K	CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.I211K|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	211	Ig-like C2-type.					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)		ATAGGGTCCTATGTCATTCTT	0.542000													93	131					0	0	0.014410	0	0
UPP2	151531	broad.mit.edu	37	2	158962720	158962720	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:158962720G>C	ENST00000605860.1	+	5	389	c.343G>C	c.(343-345)Gat>Cat	p.D115H	UPP2_ENST00000005756.4_Missense_Mutation_p.D58H|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000409859.4_Missense_Mutation_p.D115H			O95045	UPP2_HUMAN	uridine phosphorylase 2	58					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AATGTTTGGAGATGTAAAGGT	0.328000													15	27					0	0	0.004990	0	0
OLFM1	10439	broad.mit.edu	37	9	137998625	137998625	+	Missense_Mutation	SNP	C	C	A	rs146984036		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr9:137998625C>A	ENST00000252854.4	+	5	840	c.653C>A	c.(652-654)cCc>cAc	p.P218H	OLFM1_ENST00000371793.3_Missense_Mutation_p.P236H|OLFM1_ENST00000371796.3_Missense_Mutation_p.P209H	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	236					nervous system development	endoplasmic reticulum lumen	protein binding	p.P218L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ATCAGTGACCCCGTGACTGTC	0.637000													15	10					3.41278e-10	4.20252e-10	0.004990	1	0
LOXL3	84695	broad.mit.edu	37	2	74763195	74763195	+	Silent	SNP	T	T	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:74763195T>A	ENST00000264094.3	-	7	1247	c.1176A>T	c.(1174-1176)acA>acT	p.T392T	LOXL3_ENST00000393937.2_Silent_p.T247T|LOXL3_ENST00000409986.1_Silent_p.T247T|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Silent_p.T392T	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	392	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AATCCTCAGCTGTGATGTTCT	0.567000													39	46					0	0	0.008740	0	0
PTGER4	5734	broad.mit.edu	37	5	40681505	40681505	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr5:40681505G>T	ENST00000302472.3	+	2	1434	c.410G>T	c.(409-411)gGc>gTc	p.G137V	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	137					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGATTGGCGGGCCTCACGCTC	0.597000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	74					9.59835e-30	1.48974e-29	0.014410	1	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231810	125231810	+	RNA	SNP	A	A	G			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:125231810A>G	ENST00000439075.1	-	0	2935					NR_026876.1																						cagagatgagacaatgttctt	0.313000													5	8					0	0	0.000602	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893986	32893986	+	RNA	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr16:32893986G>A	ENST00000330048.5	-	0	1271					NR_003083.2																						GGCCACATGTGGCCCAGGGCA	0.567000													9	94					0	0	0.008291	0	0
DDIT4L	115265	broad.mit.edu	37	4	101111077	101111077	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:101111077C>A	ENST00000273990.2	-	2	278	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	22					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GGGTGATAGCCACAGTCCAGC	0.592000													27	16					1.08312e-15	1.47788e-15	0.009535	1	0
LAMA2	3908	broad.mit.edu	37	6	129704301	129704301	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:129704301G>T	ENST00000421865.2	+	35	5043	c.4994G>T	c.(4993-4995)gGa>gTa	p.G1665V		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1665	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGCAGACCGGACAGGATGCT	0.448000													10	17					0.000978159	0.00102928	0.010729	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51633327	51633327	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:51633327C>A	ENST00000250360.3	+	7	1450	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	461					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGATCAAGATCCACAGATGAG	0.542000													22	50					1.28384e-07	1.46696e-07	0.012319	1	0
PCSK9	255738	broad.mit.edu	37	1	55518372	55518372	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:55518372G>A	ENST00000302118.5	+	5	997	c.707G>A	c.(706-708)gGc>gAc	p.G236D	PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.G36D	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	236	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGGTCAGCGGCCGGGATGCC	0.637000													25	11					0	0	0.002780	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003956	93003956	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:93003956C>T	ENST00000523629.1	-	7	1356	c.902G>A	c.(901-903)cGt>cAt	p.R301H	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R301H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R274H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R312H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R264H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R264H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R274H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	301					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATCATCCAAACGGTAATGCTG	0.552000													20	124					0	0	0.008871	0	0
SHF	90525	broad.mit.edu	37	15	45491299	45491299	+	Splice_Site	SNP	C	C	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:45491299C>T	ENST00000318390.6	-	2	145		c.e2-1		RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.7_ENST00000568314.1_RNA|SHF_ENST00000290894.8_5'UTR			B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		AATGCCGCCTCTGTGGAGATT	0.597000											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	0.004672	0	0
ULBP1	80329	broad.mit.edu	37	6	150290448	150290448	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:150290448T>C	ENST00000229708.2	+	3	620	c.577T>C	c.(577-579)Tgg>Cgg	p.W193R	ULBP1_ENST00000367345.1_Missense_Mutation_p.W193R	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	193	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TTGTAAGATGTGGCTTGAAGA	0.448000													52	65					0	0	0.014410	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677074	219677074	+	Silent	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr2:219677074G>T	ENST00000258415.4	+	3	1003	c.576G>T	c.(574-576)ctG>ctT	p.L192L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	192					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGGACCAGCTGCGGGCAGAGA	0.557000													11	173					1.08611e-07	1.24676e-07	0.010729	1	0
SLC28A2	9153	broad.mit.edu	37	15	45560574	45560574	+	Nonsense_Mutation	SNP	C	C	T	rs142426040	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr15:45560574C>T	ENST00000347644.3	+	13	1431	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	456					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCTCACTTTCCAGGTAAAGGA	0.493000													65	97					0	0	0.014410	0	0
ANO5	203859	broad.mit.edu	37	11	22242683	22242683	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:22242683G>T	ENST00000324559.8	+	5	538	c.221G>T	c.(220-222)cGa>cTa	p.R74L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	74						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCTTCTTCCGAGATGGGATT	0.353000													23	32					1.17739e-12	1.54158e-12	0.005443	1	0
ACACB	32	broad.mit.edu	37	12	109684049	109684049	+	Silent	SNP	C	C	A			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:109684049C>A	ENST00000338432.7	+	39	5486	c.5367C>A	c.(5365-5367)atC>atA	p.I1789I	ACACB_ENST00000377854.5_Silent_p.I1719I|ACACB_ENST00000543201.1_Silent_p.I455I|ACACB_ENST00000377848.3_Silent_p.I1789I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1789					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGGATGTGATCGTCATCGGCA	0.552000													39	33					1.57019e-19	2.25394e-19	0.007835	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													3	4	---	---	---	---					
CNST	163882	broad.mit.edu	37	1	246784843	246784844	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:246784843_246784844insGC	ENST00000366513.4	+	3	761_762	c.492_493insGC	c.(490-495)gacgccfs	p.DA164fs	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Frame_Shift_Ins_p.DA164fs	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	164					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCAGCCAGAGGCGCCAAAGCT	0.441													134	214	---	---	---	---					
OR2T12	127064	broad.mit.edu	37	1	248458101	248458101	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr1:248458101delG	ENST00000317996.1	-	1	779	c.780delC	c.(778-780)ccfs	p.P260fs		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			TGTGGGATTTGGGTCTCATAT	0.483													52	96	---	---	---	---					
TFDP2	7029	broad.mit.edu	37	3	141682777	141682777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr3:141682777delC	ENST00000499676.2	-	10	1252	c.581delG	c.(580-582)aafs	p.R194fs	TFDP2_ENST00000310282.6_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000495310.1_Frame_Shift_Del_p.R157fs|TFDP2_ENST00000467072.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000489671.1_Frame_Shift_Del_p.R254fs|TFDP2_ENST00000486111.1_Frame_Shift_Del_p.R194fs|TFDP2_ENST00000397991.4_Frame_Shift_Del_p.R226fs|TFDP2_ENST00000479040.1_Frame_Shift_Del_p.R193fs|TFDP2_ENST00000477292.1_Frame_Shift_Del_p.R118fs|TFDP2_ENST00000317104.7_Frame_Shift_Del_p.R178fs	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	254					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TTGTCGATTTCTCTGTACCAG	0.368													47	64	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187629115	187629116	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr4:187629115_187629116delCC	ENST00000441802.2	-	2	2075_2076	c.1866_1867delGG	c.(1864-1869)ggtafs	p.GV622fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	622	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATGACAATACCCCCGAGTTGG	0.426										HNSCC(5;0.00058)			29	27	---	---	---	---					
GPRC6A	222545	broad.mit.edu	37	6	117130668	117130668	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:117130668delA	ENST00000310357.3	-	2	328	c.307delT	c.(307-309)gtfs	p.C103fs	GPRC6A_ENST00000530250.1_Frame_Shift_Del_p.C103fs|GPRC6A_ENST00000368549.3_Frame_Shift_Del_p.C103fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	103					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTTCTGTACAAGTGTCATAG	0.408													13	34	---	---	---	---					
RNF217-AS1	7955	broad.mit.edu	37	6	125231565	125231565	+	RNA	DEL	A	A	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr6:125231565delA	ENST00000439075.1	-	0	3180					NR_026876.1																						TTTTTAATCTAAAAAAAGTAC	0.279													4	8	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77767550	77767550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr8:77767550delC	ENST00000521891.2	+	10	8841	c.8393delC	c.(8392-8394)acfs	p.T2798fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.T2753fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.T2772fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.T2753fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2753						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAAATAAAACCGATTTTGAT	0.438										HNSCC(33;0.089)			24	21	---	---	---	---					
NET1	10276	broad.mit.edu	37	10	5498668	5498668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr10:5498668delC	ENST00000355029.4	+	12	1644	c.1502delC	c.(1501-1503)gcfs	p.A501fs	NET1_ENST00000542715.1_Frame_Shift_Del_p.A320fs|NET1_ENST00000380359.3_Frame_Shift_Del_p.A447fs	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	501	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.F503fs*9(1)|p.F449fs*9(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GCGGCCATTGCCCCCTTCCAG	0.602													42	25	---	---	---	---					
MRGPRX3	117195	broad.mit.edu	37	11	18158862	18158862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr11:18158862delC	ENST00000396275.2	+	3	474	c.113delC	c.(112-114)tcfs	p.S38fs		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	38						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCATCGTTTCCCTTGTCGCG	0.592													78	164	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													2	4	---	---	---	---					
MCF2L	23263	broad.mit.edu	37	13	113729415	113729415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr13:113729415delG	ENST00000397030.1	+	11	1356	c.1319delG	c.(1318-1320)cgfs	p.R440fs	MCF2L_ENST00000434480.2_Frame_Shift_Del_p.R413fs|MCF2L_ENST00000421756.1_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000375608.3_Frame_Shift_Del_p.R437fs|MCF2L_ENST00000375601.3_Frame_Shift_Del_p.R411fs|MCF2L_ENST00000535094.2_Frame_Shift_Del_p.R407fs|MCF2L_ENST00000423482.2_Frame_Shift_Del_p.R405fs|MCF2L_ENST00000375604.2_Frame_Shift_Del_p.R464fs|MCF2L_ENST00000442652.2_Frame_Shift_Del_p.R437fs|MCF2L_ENST00000375597.4_Frame_Shift_Del_p.R405fs			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	437					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGGAGCTCCGGCACCTCTGT	0.667													45	26	---	---	---	---					
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650	by1000genomes	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55																											GACTCTTTTTTAAAAAAACAGG	0.450													10	18	---	---	---	---					
EFS	10278	broad.mit.edu	37	14	23826490	23826491	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr14:23826490_23826491delTC	ENST00000216733.3	-	6	2237_2238	c.1630_1631delGA	c.(1630-1632)afs	p.E544fs	EFS_ENST00000429593.2_Frame_Shift_Del_p.E375fs|EFS_ENST00000351354.3_Frame_Shift_Del_p.E451fs	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	544					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCCTGCCAGTTCTGTTACACAC	0.619													26	127	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10351938	10351938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr17:10351938delG	ENST00000255381.2	-	32	4638	c.4528delC	c.(4528-4530)aafs	p.Q1511fs	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1511					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						GACTCACGTTGTAAGTTCTTA	0.378													44	93	---	---	---	---					
ZNF66	7617	broad.mit.edu	37	19	20988980	20988981	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:20988980_20988981insTT	ENST00000344519.8	+	4	597_598	c.574_575insTT	c.(574-576)gaafs	p.E192fs	ZNF66_ENST00000425625.1_Frame_Shift_Ins_p.E238fs																							tactacacataagaaaattcat	0.361													11	60	---	---	---	---					
DPY19L3	147991	broad.mit.edu	37	19	32954307	32954307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:32954307delA	ENST00000342179.5	+	13	1573	c.1358delA	c.(1357-1359)gafs	p.E453fs	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Frame_Shift_Del_p.E453fs|DPY19L3_ENST00000392250.2_Frame_Shift_Del_p.E453fs	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	453						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGTAAAATGGAAAAAGGCACA	0.333													46	60	---	---	---	---					
SIGLEC14	100049587	broad.mit.edu	37	19	52149112	52149112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr19:52149112delC	ENST00000360844.6	-	3	664	c.623delG	c.(622-624)gcfs	p.G208fs	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	208	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.G208A(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGTTGGTGCCATGGTCCTC	0.637													35	54	---	---	---	---					
RAB22A	57403	broad.mit.edu	37	20	56929251	56929254	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr20:56929251_56929254delTATT	ENST00000244040.3	+	6	698_701	c.417_420delTATT	c.(415-420)tcfs	p.SI139fs		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	139					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			ACGCCGACTCTATTCATGCAATTT	0.402													16	27	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37586451	37586452	+	Frame_Shift_Ins	INS	-	-	T	rs147590869	byFrequency	TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:37586451_37586452insT	ENST00000399151.3	+	8	1062_1063	c.977_978insT	c.(976-978)tttfs	p.F326fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	326					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGTCGTCTTATTTTTTTGAAA	0.396													13	99	---	---	---	---					
KRTAP10-9	386676	broad.mit.edu	37	21	46047615	46047615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr21:46047615delC	ENST00000397911.3	+	1	576	c.527delC	c.(526-528)tcfs	p.S176fs	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	176	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGCACTTCCTCCCCCTGCCAG	0.587													97	251	---	---	---	---					
MICAL3	57553	broad.mit.edu	37	22	18300912	18300912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chr22:18300912delG	ENST00000441493.2	-	26	4867	c.4515delC	c.(4513-4515)ccfs	p.P1505fs		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1505	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTCCTCTCTGGGGGGCTGAG	0.652													10	10	---	---	---	---					
KLHL4	56062	broad.mit.edu	37	X	86890748	86890754	+	Frame_Shift_Del	DEL	GCTCCAG	GCTCCAG	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:86890748_86890754delGCTCCAG	ENST00000373119.4	+	9	2043_2049	c.1898_1904delGCTCCAG	c.(1897-1905)tgfs	p.CSR633fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.CSR633fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	633						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCCAACCATTGCTCCAGGCTTTCTGAC	0.382													11	22	---	---	---	---					
DCX	1641	broad.mit.edu	37	X	110653517	110653517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7370-01A-11D-2129-08	TCGA-CR-7370-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f8ec337-85f7-4b01-a2b6-5db9a9e62f30	dd17d255-c853-4d2d-ad5e-cbec1719ca9d	g.chrX:110653517delA	ENST00000338081.3	-	2	524	c.353delT	c.(352-354)tcfs	p.F118fs	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000371993.2_Frame_Shift_Del_p.F37fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.F37fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.F37fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	118					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGTTCGGTAGAAGCTACAGTG	0.512													55	47	---	---	---	---					
